Incidental Mutation 'R2113:Celsr3'
| ID |
232800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Celsr3
|
| Ensembl Gene |
ENSMUSG00000023473 |
| Gene Name |
cadherin, EGF LAG seven-pass G-type receptor 3 |
| Synonyms |
Fmi1, flamingo, Adgrc3 |
| MMRRC Submission |
040117-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2113 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108703519-108730168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108715669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 2117
(Y2117F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024238]
[ENSMUST00000194079]
[ENSMUST00000213524]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024238
AA Change: Y2115F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024238
Gene: ENSMUSG00000023473
AA Change: Y2115F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
293 |
N/A |
INTRINSIC |
|
CA
|
338 |
422 |
2.25e-27 |
SMART |
|
CA
|
446 |
534 |
5.05e-30 |
SMART |
|
CA
|
558 |
640 |
7.6e-25 |
SMART |
|
CA
|
664 |
745 |
7.36e-32 |
SMART |
|
CA
|
769 |
847 |
5.95e-18 |
SMART |
|
CA
|
871 |
950 |
5.25e-28 |
SMART |
|
CA
|
974 |
1056 |
2.67e-29 |
SMART |
|
CA
|
1080 |
1158 |
1.18e-21 |
SMART |
|
CA
|
1186 |
1262 |
3.2e-1 |
SMART |
|
low complexity region
|
1328 |
1335 |
N/A |
INTRINSIC |
|
low complexity region
|
1350 |
1360 |
N/A |
INTRINSIC |
|
EGF
|
1369 |
1424 |
1.02e-2 |
SMART |
|
EGF
|
1429 |
1464 |
3.23e0 |
SMART |
|
EGF
|
1467 |
1503 |
8.78e-2 |
SMART |
|
LamG
|
1524 |
1691 |
2.27e-35 |
SMART |
|
EGF
|
1714 |
1747 |
4.22e-4 |
SMART |
|
LamG
|
1774 |
1913 |
9.02e-21 |
SMART |
|
EGF
|
1938 |
1971 |
2.43e-4 |
SMART |
|
EGF
|
1973 |
2009 |
1.3e-4 |
SMART |
|
EGF_Lam
|
2066 |
2111 |
5.08e-7 |
SMART |
|
HormR
|
2114 |
2176 |
3.42e-21 |
SMART |
|
Pfam:GAIN
|
2188 |
2441 |
1.1e-57 |
PFAM |
|
GPS
|
2467 |
2520 |
7.92e-20 |
SMART |
|
Pfam:7tm_2
|
2527 |
2758 |
1.5e-56 |
PFAM |
|
low complexity region
|
2813 |
2829 |
N/A |
INTRINSIC |
|
low complexity region
|
2882 |
2906 |
N/A |
INTRINSIC |
|
low complexity region
|
3058 |
3072 |
N/A |
INTRINSIC |
|
low complexity region
|
3149 |
3189 |
N/A |
INTRINSIC |
|
low complexity region
|
3239 |
3261 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193726
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194079
|
| SMART Domains |
Protein: ENSMUSP00000141789
Gene: ENSMUSG00000023473
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_2
|
1 |
185 |
6.9e-45 |
PFAM |
|
low complexity region
|
240 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195857
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213524
AA Change: Y2117F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, abnormal neurvous system development, and abnormal respiratory system development. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(2) Targeted, other(2) |
| Other mutations in this stock |
Total: 127 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
C |
A |
12: 84,655,790 (GRCm39) |
G295* |
probably null |
Het |
| Acad9 |
T |
C |
3: 36,128,525 (GRCm39) |
Y129H |
probably damaging |
Het |
| Actn4 |
C |
T |
7: 28,597,549 (GRCm39) |
G608D |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,458,100 (GRCm39) |
N300K |
probably damaging |
Het |
| Adh5 |
A |
G |
3: 138,157,245 (GRCm39) |
I269V |
probably benign |
Het |
| Afap1l2 |
G |
A |
19: 56,901,821 (GRCm39) |
A842V |
possibly damaging |
Het |
| AI429214 |
A |
T |
8: 37,461,154 (GRCm39) |
K101* |
probably null |
Het |
| Alg10b |
T |
A |
15: 90,109,860 (GRCm39) |
W58R |
probably damaging |
Het |
| Alpk2 |
C |
T |
18: 65,438,754 (GRCm39) |
E1347K |
probably benign |
Het |
| Amotl2 |
G |
T |
9: 102,601,922 (GRCm39) |
E389* |
probably null |
Het |
| Ap5m1 |
G |
A |
14: 49,323,705 (GRCm39) |
R465Q |
probably damaging |
Het |
| Apoa1 |
A |
C |
9: 46,140,512 (GRCm39) |
S48R |
probably damaging |
Het |
| Asb1 |
T |
C |
1: 91,471,950 (GRCm39) |
L34P |
probably damaging |
Het |
| Atg14 |
C |
T |
14: 47,788,781 (GRCm39) |
A191T |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,260,102 (GRCm39) |
V235I |
possibly damaging |
Het |
| Atrnl1 |
C |
T |
19: 57,744,048 (GRCm39) |
Q1217* |
probably null |
Het |
| Bltp2 |
T |
C |
11: 78,159,598 (GRCm39) |
V549A |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,992,085 (GRCm39) |
H1222Q |
probably benign |
Het |
| Catsper4 |
A |
T |
4: 133,945,552 (GRCm39) |
V169E |
probably damaging |
Het |
| Cbx4 |
C |
T |
11: 118,972,718 (GRCm39) |
G219E |
probably damaging |
Het |
| Ccdc136 |
C |
T |
6: 29,413,031 (GRCm39) |
T406I |
possibly damaging |
Het |
| Cenpf |
T |
A |
1: 189,411,299 (GRCm39) |
Q295L |
probably damaging |
Het |
| Ces1b |
A |
G |
8: 93,794,783 (GRCm39) |
V272A |
probably benign |
Het |
| Cgn |
A |
T |
3: 94,687,116 (GRCm39) |
V62D |
probably damaging |
Het |
| Ckap4 |
T |
G |
10: 84,369,387 (GRCm39) |
Q115P |
possibly damaging |
Het |
| Clec10a |
T |
C |
11: 70,060,650 (GRCm39) |
|
probably null |
Het |
| Clmn |
A |
T |
12: 104,747,067 (GRCm39) |
S827T |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,466,658 (GRCm39) |
S187P |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,116,095 (GRCm39) |
I526F |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,202,140 (GRCm39) |
Q329R |
probably benign |
Het |
| Col1a1 |
T |
A |
11: 94,839,188 (GRCm39) |
S979T |
unknown |
Het |
| Crat |
T |
A |
2: 30,292,654 (GRCm39) |
Y606F |
probably benign |
Het |
| Cyp2c29 |
G |
T |
19: 39,318,708 (GRCm39) |
C396F |
probably damaging |
Het |
| Cyp2d34 |
G |
T |
15: 82,501,817 (GRCm39) |
P231Q |
probably damaging |
Het |
| Ddi2 |
A |
T |
4: 141,430,591 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
T |
12: 104,679,473 (GRCm39) |
H501Q |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,488,098 (GRCm39) |
I1001V |
probably damaging |
Het |
| Dnase2a |
T |
A |
8: 85,637,500 (GRCm39) |
C301S |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,584,280 (GRCm39) |
D142V |
probably damaging |
Het |
| Dpp8 |
G |
A |
9: 64,971,150 (GRCm39) |
C590Y |
probably benign |
Het |
| Dst |
T |
A |
1: 34,314,317 (GRCm39) |
M6707K |
probably damaging |
Het |
| Duox1 |
T |
C |
2: 122,167,735 (GRCm39) |
V1006A |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,596,420 (GRCm39) |
S1623P |
probably damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,694,015 (GRCm39) |
D1011E |
probably damaging |
Het |
| Epc2 |
T |
A |
2: 49,422,235 (GRCm39) |
D376E |
probably benign |
Het |
| Eps8 |
C |
A |
6: 137,514,633 (GRCm39) |
|
probably null |
Het |
| F11 |
T |
C |
8: 45,699,869 (GRCm39) |
T406A |
probably benign |
Het |
| Fat3 |
T |
G |
9: 15,911,082 (GRCm39) |
D1640A |
probably damaging |
Het |
| Fbxo15 |
A |
T |
18: 84,977,230 (GRCm39) |
R47S |
probably benign |
Het |
| Fbxo28 |
A |
T |
1: 182,157,490 (GRCm39) |
V109E |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,665,323 (GRCm39) |
S931R |
probably damaging |
Het |
| Fndc3b |
T |
C |
3: 27,697,185 (GRCm39) |
D9G |
probably damaging |
Het |
| Frem2 |
G |
A |
3: 53,560,343 (GRCm39) |
T1388I |
probably damaging |
Het |
| Fstl3 |
C |
A |
10: 79,617,012 (GRCm39) |
T185N |
probably damaging |
Het |
| Glo1 |
A |
T |
17: 30,823,014 (GRCm39) |
Y49* |
probably null |
Het |
| Gtsf2 |
T |
C |
15: 103,348,100 (GRCm39) |
M137V |
probably benign |
Het |
| Gzmk |
C |
T |
13: 113,310,489 (GRCm39) |
G110S |
probably benign |
Het |
| Hdac9 |
G |
T |
12: 34,439,331 (GRCm39) |
S428R |
probably damaging |
Het |
| Hnrnpul1 |
G |
A |
7: 25,432,694 (GRCm39) |
T456I |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,284,565 (GRCm39) |
H172L |
probably damaging |
Het |
| Itgb8 |
A |
C |
12: 119,154,347 (GRCm39) |
L230R |
probably damaging |
Het |
| Klf9 |
C |
T |
19: 23,142,052 (GRCm39) |
R171W |
probably damaging |
Het |
| Kmt2b |
G |
T |
7: 30,282,812 (GRCm39) |
P1050Q |
probably damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,484 (GRCm39) |
F67L |
unknown |
Het |
| Maml3 |
T |
A |
3: 51,598,077 (GRCm39) |
Y223F |
probably damaging |
Het |
| Mcm9 |
C |
T |
10: 53,491,943 (GRCm39) |
|
probably null |
Het |
| Mettl3 |
A |
G |
14: 52,532,441 (GRCm39) |
*104Q |
probably null |
Het |
| Msrb3 |
T |
A |
10: 120,687,985 (GRCm39) |
D30V |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,457,512 (GRCm39) |
T1562A |
probably damaging |
Het |
| Nat14 |
T |
C |
7: 4,927,038 (GRCm39) |
V70A |
possibly damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,454,474 (GRCm39) |
T2685A |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,469,327 (GRCm39) |
D128G |
probably damaging |
Het |
| Nfam1 |
T |
A |
15: 82,899,202 (GRCm39) |
K155* |
probably null |
Het |
| Noc4l |
A |
T |
5: 110,798,425 (GRCm39) |
M255K |
possibly damaging |
Het |
| Nolc1 |
GCA |
GCAACA |
19: 46,069,800 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAG |
CAGGAG |
19: 46,069,798 (GRCm39) |
|
probably benign |
Het |
| Nprl2 |
T |
C |
9: 107,422,511 (GRCm39) |
S334P |
probably benign |
Het |
| Nsrp1 |
A |
G |
11: 76,937,396 (GRCm39) |
S267P |
probably benign |
Het |
| Ntn4 |
A |
T |
10: 93,480,701 (GRCm39) |
M142L |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,194,113 (GRCm39) |
C139* |
probably null |
Het |
| Nup210l |
A |
T |
3: 90,098,281 (GRCm39) |
N1411I |
possibly damaging |
Het |
| Or10g1 |
A |
G |
14: 52,647,753 (GRCm39) |
L192P |
probably damaging |
Het |
| Or5ak24 |
T |
G |
2: 85,260,430 (GRCm39) |
T248P |
probably damaging |
Het |
| Pard3 |
A |
T |
8: 128,115,018 (GRCm39) |
T579S |
probably damaging |
Het |
| Pcnx3 |
G |
T |
19: 5,721,584 (GRCm39) |
D1071E |
possibly damaging |
Het |
| Pi4k2a |
T |
A |
19: 42,103,510 (GRCm39) |
I340N |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,703,185 (GRCm39) |
D917V |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,106,066 (GRCm39) |
F821Y |
probably damaging |
Het |
| Ptgfrn |
C |
T |
3: 100,984,625 (GRCm39) |
R189H |
probably benign |
Het |
| Ptpn18 |
T |
A |
1: 34,510,742 (GRCm39) |
S235R |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,044,460 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
T |
G |
14: 33,678,014 (GRCm39) |
I654S |
probably benign |
Het |
| Rimbp3 |
T |
C |
16: 17,027,539 (GRCm39) |
L321P |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,374,722 (GRCm39) |
M1028K |
probably benign |
Het |
| Ruvbl1 |
T |
A |
6: 88,460,003 (GRCm39) |
V221D |
probably damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,073,527 (GRCm39) |
|
probably null |
Het |
| Scn7a |
C |
T |
2: 66,506,312 (GRCm39) |
D1526N |
probably damaging |
Het |
| Scnn1a |
T |
C |
6: 125,314,774 (GRCm39) |
F218S |
possibly damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,146,176 (GRCm39) |
M1185K |
probably damaging |
Het |
| Slain1 |
C |
A |
14: 103,888,282 (GRCm39) |
D67E |
possibly damaging |
Het |
| Snx33 |
T |
C |
9: 56,833,724 (GRCm39) |
D115G |
probably benign |
Het |
| Sowaha |
G |
A |
11: 53,369,789 (GRCm39) |
R316C |
probably damaging |
Het |
| Spata17 |
A |
T |
1: 186,830,108 (GRCm39) |
F309I |
possibly damaging |
Het |
| Spmip7 |
G |
A |
11: 11,440,293 (GRCm39) |
|
probably null |
Het |
| Ssrp1 |
G |
T |
2: 84,873,350 (GRCm39) |
|
probably null |
Het |
| St6gal1 |
C |
G |
16: 23,147,167 (GRCm39) |
T225S |
probably damaging |
Het |
| Sulf1 |
C |
G |
1: 12,918,398 (GRCm39) |
F38L |
probably damaging |
Het |
| Tbc1d7 |
G |
A |
13: 43,306,562 (GRCm39) |
T138M |
probably damaging |
Het |
| Tdpoz4 |
T |
A |
3: 93,704,351 (GRCm39) |
M216K |
probably damaging |
Het |
| Tmem200a |
A |
G |
10: 25,869,220 (GRCm39) |
S350P |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,551,871 (GRCm39) |
D903E |
probably benign |
Het |
| Trpc4ap |
A |
T |
2: 155,499,856 (GRCm39) |
I222N |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,781,021 (GRCm39) |
Y3261N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,954 (GRCm39) |
V33344A |
possibly damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,818 (GRCm39) |
T100S |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,810,933 (GRCm39) |
Y97H |
probably damaging |
Het |
| Vmn1r192 |
A |
T |
13: 22,371,800 (GRCm39) |
V140D |
possibly damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r7 |
A |
G |
3: 64,599,025 (GRCm39) |
S511P |
possibly damaging |
Het |
| Vmn2r88 |
T |
C |
14: 51,655,651 (GRCm39) |
L621P |
probably damaging |
Het |
| Vps45 |
A |
T |
3: 95,954,365 (GRCm39) |
M174K |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,052,454 (GRCm39) |
M162L |
probably benign |
Het |
| Wdr81 |
T |
A |
11: 75,344,461 (GRCm39) |
M269L |
probably benign |
Het |
| Zfp53 |
A |
G |
17: 21,728,713 (GRCm39) |
T249A |
probably benign |
Het |
| Zfp758 |
T |
C |
17: 22,580,626 (GRCm39) |
S22P |
probably benign |
Het |
| Zfp780b |
T |
C |
7: 27,663,298 (GRCm39) |
D419G |
possibly damaging |
Het |
| Zfp934 |
A |
T |
13: 62,666,507 (GRCm39) |
Y45N |
probably damaging |
Het |
|
| Other mutations in Celsr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Celsr3
|
APN |
9 |
108,726,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00536:Celsr3
|
APN |
9 |
108,706,391 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL00552:Celsr3
|
APN |
9 |
108,718,462 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00801:Celsr3
|
APN |
9 |
108,719,775 (GRCm39) |
missense |
probably benign |
|
|
IGL01420:Celsr3
|
APN |
9 |
108,718,389 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01541:Celsr3
|
APN |
9 |
108,708,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01619:Celsr3
|
APN |
9 |
108,711,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01619:Celsr3
|
APN |
9 |
108,714,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01631:Celsr3
|
APN |
9 |
108,714,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01777:Celsr3
|
APN |
9 |
108,713,141 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01938:Celsr3
|
APN |
9 |
108,705,614 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02135:Celsr3
|
APN |
9 |
108,704,755 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02231:Celsr3
|
APN |
9 |
108,719,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02234:Celsr3
|
APN |
9 |
108,707,159 (GRCm39) |
missense |
probably benign |
|
|
IGL02392:Celsr3
|
APN |
9 |
108,711,920 (GRCm39) |
splice site |
probably benign |
|
|
IGL02416:Celsr3
|
APN |
9 |
108,709,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02421:Celsr3
|
APN |
9 |
108,717,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02455:Celsr3
|
APN |
9 |
108,720,092 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02798:Celsr3
|
APN |
9 |
108,720,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Celsr3
|
APN |
9 |
108,726,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Celsr3
|
APN |
9 |
108,723,134 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02986:Celsr3
|
APN |
9 |
108,718,454 (GRCm39) |
splice site |
probably null |
|
|
IGL03089:Celsr3
|
APN |
9 |
108,703,806 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03162:Celsr3
|
APN |
9 |
108,719,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03267:Celsr3
|
APN |
9 |
108,713,724 (GRCm39) |
splice site |
probably benign |
|
|
Diminishment
|
UTSW |
9 |
108,719,907 (GRCm39) |
intron |
probably benign |
|
|
little_d
|
UTSW |
9 |
108,704,891 (GRCm39) |
missense |
probably damaging |
0.98 |
|
nogal
|
UTSW |
9 |
108,713,037 (GRCm39) |
missense |
probably benign |
|
|
F6893:Celsr3
|
UTSW |
9 |
108,712,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4243001:Celsr3
|
UTSW |
9 |
108,709,507 (GRCm39) |
missense |
probably benign |
0.13 |
|
PIT4810001:Celsr3
|
UTSW |
9 |
108,722,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Celsr3
|
UTSW |
9 |
108,704,204 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0243:Celsr3
|
UTSW |
9 |
108,720,923 (GRCm39) |
splice site |
probably benign |
|
|
R0382:Celsr3
|
UTSW |
9 |
108,706,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Celsr3
|
UTSW |
9 |
108,706,272 (GRCm39) |
nonsense |
probably null |
|
|
R0510:Celsr3
|
UTSW |
9 |
108,704,204 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0630:Celsr3
|
UTSW |
9 |
108,704,891 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0656:Celsr3
|
UTSW |
9 |
108,711,854 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0764:Celsr3
|
UTSW |
9 |
108,705,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Celsr3
|
UTSW |
9 |
108,719,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Celsr3
|
UTSW |
9 |
108,723,224 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1015:Celsr3
|
UTSW |
9 |
108,710,375 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1321:Celsr3
|
UTSW |
9 |
108,713,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1423:Celsr3
|
UTSW |
9 |
108,704,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1497:Celsr3
|
UTSW |
9 |
108,726,064 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1520:Celsr3
|
UTSW |
9 |
108,725,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1534:Celsr3
|
UTSW |
9 |
108,726,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1569:Celsr3
|
UTSW |
9 |
108,706,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1657:Celsr3
|
UTSW |
9 |
108,720,151 (GRCm39) |
nonsense |
probably null |
|
|
R1753:Celsr3
|
UTSW |
9 |
108,709,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1764:Celsr3
|
UTSW |
9 |
108,706,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Celsr3
|
UTSW |
9 |
108,711,825 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1838:Celsr3
|
UTSW |
9 |
108,707,105 (GRCm39) |
missense |
probably benign |
|
|
R1839:Celsr3
|
UTSW |
9 |
108,707,105 (GRCm39) |
missense |
probably benign |
|
|
R1874:Celsr3
|
UTSW |
9 |
108,713,037 (GRCm39) |
missense |
probably benign |
|
|
R1875:Celsr3
|
UTSW |
9 |
108,713,037 (GRCm39) |
missense |
probably benign |
|
|
R1953:Celsr3
|
UTSW |
9 |
108,720,381 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1960:Celsr3
|
UTSW |
9 |
108,723,016 (GRCm39) |
missense |
probably benign |
|
|
R2290:Celsr3
|
UTSW |
9 |
108,720,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2369:Celsr3
|
UTSW |
9 |
108,719,751 (GRCm39) |
missense |
probably benign |
|
|
R2373:Celsr3
|
UTSW |
9 |
108,719,751 (GRCm39) |
missense |
probably benign |
|
|
R2374:Celsr3
|
UTSW |
9 |
108,719,751 (GRCm39) |
missense |
probably benign |
|
|
R2375:Celsr3
|
UTSW |
9 |
108,719,751 (GRCm39) |
missense |
probably benign |
|
|
R2844:Celsr3
|
UTSW |
9 |
108,706,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2968:Celsr3
|
UTSW |
9 |
108,709,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3103:Celsr3
|
UTSW |
9 |
108,714,338 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3159:Celsr3
|
UTSW |
9 |
108,704,909 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3791:Celsr3
|
UTSW |
9 |
108,719,751 (GRCm39) |
missense |
probably benign |
|
|
R4194:Celsr3
|
UTSW |
9 |
108,720,501 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4329:Celsr3
|
UTSW |
9 |
108,723,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4365:Celsr3
|
UTSW |
9 |
108,707,046 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4419:Celsr3
|
UTSW |
9 |
108,720,443 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4484:Celsr3
|
UTSW |
9 |
108,723,262 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4582:Celsr3
|
UTSW |
9 |
108,722,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4681:Celsr3
|
UTSW |
9 |
108,704,953 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4729:Celsr3
|
UTSW |
9 |
108,724,851 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4881:Celsr3
|
UTSW |
9 |
108,721,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4893:Celsr3
|
UTSW |
9 |
108,726,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Celsr3
|
UTSW |
9 |
108,714,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5207:Celsr3
|
UTSW |
9 |
108,709,958 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5290:Celsr3
|
UTSW |
9 |
108,720,357 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5327:Celsr3
|
UTSW |
9 |
108,719,907 (GRCm39) |
intron |
probably benign |
|
|
R5345:Celsr3
|
UTSW |
9 |
108,709,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5358:Celsr3
|
UTSW |
9 |
108,709,224 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5396:Celsr3
|
UTSW |
9 |
108,705,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Celsr3
|
UTSW |
9 |
108,717,241 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5452:Celsr3
|
UTSW |
9 |
108,721,233 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5467:Celsr3
|
UTSW |
9 |
108,705,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5479:Celsr3
|
UTSW |
9 |
108,721,743 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5629:Celsr3
|
UTSW |
9 |
108,726,266 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5637:Celsr3
|
UTSW |
9 |
108,714,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Celsr3
|
UTSW |
9 |
108,715,671 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5739:Celsr3
|
UTSW |
9 |
108,704,357 (GRCm39) |
missense |
probably benign |
|
|
R5785:Celsr3
|
UTSW |
9 |
108,704,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5877:Celsr3
|
UTSW |
9 |
108,722,926 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5961:Celsr3
|
UTSW |
9 |
108,708,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Celsr3
|
UTSW |
9 |
108,714,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6176:Celsr3
|
UTSW |
9 |
108,705,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Celsr3
|
UTSW |
9 |
108,706,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6468:Celsr3
|
UTSW |
9 |
108,712,989 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6481:Celsr3
|
UTSW |
9 |
108,714,283 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6547:Celsr3
|
UTSW |
9 |
108,706,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6763:Celsr3
|
UTSW |
9 |
108,704,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6870:Celsr3
|
UTSW |
9 |
108,706,390 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6977:Celsr3
|
UTSW |
9 |
108,704,914 (GRCm39) |
missense |
probably benign |
|
|
R7061:Celsr3
|
UTSW |
9 |
108,724,793 (GRCm39) |
nonsense |
probably null |
|
|
R7122:Celsr3
|
UTSW |
9 |
108,705,766 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7156:Celsr3
|
UTSW |
9 |
108,715,203 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7166:Celsr3
|
UTSW |
9 |
108,720,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7176:Celsr3
|
UTSW |
9 |
108,722,961 (GRCm39) |
missense |
probably benign |
|
|
R7213:Celsr3
|
UTSW |
9 |
108,726,239 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7314:Celsr3
|
UTSW |
9 |
108,706,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Celsr3
|
UTSW |
9 |
108,720,777 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7508:Celsr3
|
UTSW |
9 |
108,713,821 (GRCm39) |
missense |
probably benign |
|
|
R7554:Celsr3
|
UTSW |
9 |
108,718,408 (GRCm39) |
missense |
probably benign |
|
|
R7615:Celsr3
|
UTSW |
9 |
108,714,851 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7653:Celsr3
|
UTSW |
9 |
108,712,269 (GRCm39) |
nonsense |
probably null |
|
|
R7747:Celsr3
|
UTSW |
9 |
108,707,177 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7881:Celsr3
|
UTSW |
9 |
108,705,271 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7935:Celsr3
|
UTSW |
9 |
108,706,840 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7995:Celsr3
|
UTSW |
9 |
108,722,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8006:Celsr3
|
UTSW |
9 |
108,706,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8077:Celsr3
|
UTSW |
9 |
108,705,530 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8284:Celsr3
|
UTSW |
9 |
108,723,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8291:Celsr3
|
UTSW |
9 |
108,715,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Celsr3
|
UTSW |
9 |
108,725,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Celsr3
|
UTSW |
9 |
108,718,471 (GRCm39) |
frame shift |
probably null |
|
|
R8337:Celsr3
|
UTSW |
9 |
108,718,471 (GRCm39) |
frame shift |
probably null |
|
|
R8338:Celsr3
|
UTSW |
9 |
108,704,539 (GRCm39) |
nonsense |
probably null |
|
|
R8353:Celsr3
|
UTSW |
9 |
108,703,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8407:Celsr3
|
UTSW |
9 |
108,706,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8408:Celsr3
|
UTSW |
9 |
108,708,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8459:Celsr3
|
UTSW |
9 |
108,706,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8510:Celsr3
|
UTSW |
9 |
108,715,319 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8713:Celsr3
|
UTSW |
9 |
108,707,062 (GRCm39) |
missense |
probably benign |
|
|
R8728:Celsr3
|
UTSW |
9 |
108,723,940 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8829:Celsr3
|
UTSW |
9 |
108,717,582 (GRCm39) |
missense |
probably benign |
|
|
R8877:Celsr3
|
UTSW |
9 |
108,706,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8905:Celsr3
|
UTSW |
9 |
108,718,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9008:Celsr3
|
UTSW |
9 |
108,706,151 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9072:Celsr3
|
UTSW |
9 |
108,704,293 (GRCm39) |
missense |
probably benign |
|
|
R9157:Celsr3
|
UTSW |
9 |
108,707,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Celsr3
|
UTSW |
9 |
108,706,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9275:Celsr3
|
UTSW |
9 |
108,715,689 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9361:Celsr3
|
UTSW |
9 |
108,726,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9382:Celsr3
|
UTSW |
9 |
108,706,961 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9407:Celsr3
|
UTSW |
9 |
108,723,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Celsr3
|
UTSW |
9 |
108,726,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9607:Celsr3
|
UTSW |
9 |
108,717,701 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9626:Celsr3
|
UTSW |
9 |
108,726,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9628:Celsr3
|
UTSW |
9 |
108,703,559 (GRCm39) |
nonsense |
probably null |
|
|
R9630:Celsr3
|
UTSW |
9 |
108,704,296 (GRCm39) |
missense |
probably benign |
|
|
R9645:Celsr3
|
UTSW |
9 |
108,704,691 (GRCm39) |
nonsense |
probably null |
|
|
R9683:Celsr3
|
UTSW |
9 |
108,704,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9794:Celsr3
|
UTSW |
9 |
108,728,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9798:Celsr3
|
UTSW |
9 |
108,705,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Celsr3
|
UTSW |
9 |
108,726,256 (GRCm39) |
missense |
probably benign |
|
|
X0018:Celsr3
|
UTSW |
9 |
108,717,611 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0018:Celsr3
|
UTSW |
9 |
108,704,977 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
X0026:Celsr3
|
UTSW |
9 |
108,706,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Celsr3
|
UTSW |
9 |
108,703,676 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTCTTCCTGAGGGAGAC -3'
(R):5'- TTCACTTGGTAAAAGAGGAGACTG -3'
Sequencing Primer
(F):5'- CTACAGTCAGCTGGCATACTTGG -3'
(R):5'- CTGCAAGAATCAGAAGAGACCTGTC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation