Incidental Mutation 'R0049:Celsr2'
| ID |
40861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Celsr2
|
| Ensembl Gene |
ENSMUSG00000068740 |
| Gene Name |
cadherin, EGF LAG seven-pass G-type receptor 2 |
| Synonyms |
EGFL2, Adgrc2, flamingo, mfmi1 |
| MMRRC Submission |
038343-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0049 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108298167-108323383 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108304570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 2263
(Y2263F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090558]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090558
AA Change: Y2263F
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000088046
Gene: ENSMUSG00000068740
AA Change: Y2263F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
53 |
N/A |
INTRINSIC |
|
CA
|
203 |
287 |
1.36e-26 |
SMART |
|
CA
|
311 |
397 |
1.33e-29 |
SMART |
|
CA
|
421 |
503 |
2.59e-27 |
SMART |
|
CA
|
527 |
608 |
3.33e-30 |
SMART |
|
CA
|
632 |
710 |
5.18e-18 |
SMART |
|
CA
|
734 |
813 |
1.08e-29 |
SMART |
|
CA
|
837 |
919 |
8.08e-29 |
SMART |
|
low complexity region
|
920 |
932 |
N/A |
INTRINSIC |
|
CA
|
943 |
1021 |
4.3e-24 |
SMART |
|
CA
|
1049 |
1125 |
1.87e-1 |
SMART |
|
low complexity region
|
1188 |
1198 |
N/A |
INTRINSIC |
|
EGF
|
1231 |
1286 |
1.81e-3 |
SMART |
|
EGF_CA
|
1288 |
1324 |
2.24e-8 |
SMART |
|
EGF
|
1331 |
1366 |
6.65e-2 |
SMART |
|
LamG
|
1387 |
1554 |
8.4e-30 |
SMART |
|
EGF
|
1577 |
1610 |
8e-5 |
SMART |
|
LamG
|
1636 |
1770 |
1.56e-24 |
SMART |
|
EGF
|
1796 |
1829 |
2.35e-2 |
SMART |
|
EGF
|
1831 |
1867 |
3.88e-3 |
SMART |
|
TNFR
|
1908 |
1943 |
1.35e-1 |
SMART |
|
EGF_Lam
|
1924 |
1969 |
9.54e-12 |
SMART |
|
HormR
|
1972 |
2034 |
1.57e-20 |
SMART |
|
Pfam:GAIN
|
2046 |
2289 |
3e-62 |
PFAM |
|
GPS
|
2315 |
2368 |
1.86e-25 |
SMART |
|
Pfam:7tm_2
|
2373 |
2605 |
1.1e-48 |
PFAM |
|
low complexity region
|
2715 |
2733 |
N/A |
INTRINSIC |
|
low complexity region
|
2857 |
2873 |
N/A |
INTRINSIC |
|
low complexity region
|
2874 |
2881 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133216
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000147251
AA Change: Y251F
|
| SMART Domains |
Protein: ENSMUSP00000122329
Gene: ENSMUSG00000068740
AA Change: Y251F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GAIN
|
35 |
278 |
5.1e-63 |
PFAM |
|
GPS
|
304 |
357 |
1.86e-25 |
SMART |
|
Pfam:7tm_2
|
362 |
594 |
2e-49 |
PFAM |
|
low complexity region
|
704 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
862 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
870 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147565
|
| SMART Domains |
Protein: ENSMUSP00000122516
Gene: ENSMUSG00000068740
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
13 |
46 |
8e-5 |
SMART |
|
LamG
|
72 |
206 |
1.56e-24 |
SMART |
|
| Meta Mutation Damage Score |
0.1163 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
99% (114/115) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(1) Targeted, other(3)
|
| Other mutations in this stock |
Total: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,615,267 (GRCm39) |
H9L |
possibly damaging |
Het |
| Aars1 |
T |
A |
8: 111,779,083 (GRCm39) |
I739K |
possibly damaging |
Het |
| Abcb1b |
T |
A |
5: 8,875,661 (GRCm39) |
H611Q |
probably damaging |
Het |
| Acod1 |
T |
A |
14: 103,292,643 (GRCm39) |
I389K |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,709,841 (GRCm39) |
L166* |
probably null |
Het |
| Akap1 |
C |
A |
11: 88,730,450 (GRCm39) |
|
probably null |
Het |
| Akna |
T |
A |
4: 63,312,872 (GRCm39) |
Q417L |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,512,678 (GRCm39) |
D285G |
probably damaging |
Het |
| Arhgap1 |
T |
C |
2: 91,500,514 (GRCm39) |
Y308H |
probably damaging |
Het |
| Arhgef10 |
A |
C |
8: 15,004,446 (GRCm39) |
R360S |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,636,500 (GRCm39) |
|
probably null |
Het |
| Arid3a |
A |
G |
10: 79,766,899 (GRCm39) |
T58A |
possibly damaging |
Het |
| Atosb |
A |
T |
4: 43,036,441 (GRCm39) |
S97T |
probably benign |
Het |
| Atp6v0a4 |
G |
A |
6: 38,059,016 (GRCm39) |
R256C |
probably damaging |
Het |
| Camsap3 |
C |
A |
8: 3,648,772 (GRCm39) |
S163R |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,395,663 (GRCm39) |
E518V |
probably damaging |
Het |
| Ccdc180 |
G |
A |
4: 45,930,119 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
T |
C |
15: 98,462,960 (GRCm39) |
M71V |
probably benign |
Het |
| Cfap36 |
A |
T |
11: 29,196,514 (GRCm39) |
|
probably null |
Het |
| Cfap69 |
T |
C |
5: 5,663,734 (GRCm39) |
T498A |
probably benign |
Het |
| Chadl |
T |
C |
15: 81,578,213 (GRCm39) |
D6G |
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,436,812 (GRCm39) |
I132F |
possibly damaging |
Het |
| Cnot4 |
A |
G |
6: 35,028,212 (GRCm39) |
V468A |
probably benign |
Het |
| Crmp1 |
T |
G |
5: 37,422,617 (GRCm39) |
D141E |
possibly damaging |
Het |
| Crtc1 |
A |
G |
8: 70,844,509 (GRCm39) |
|
probably null |
Het |
| Cryz |
C |
A |
3: 154,317,189 (GRCm39) |
A136D |
probably damaging |
Het |
| Dph6 |
A |
G |
2: 114,353,525 (GRCm39) |
V221A |
probably benign |
Het |
| Dst |
A |
T |
1: 34,314,862 (GRCm39) |
N4267Y |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,127,167 (GRCm39) |
D170V |
possibly damaging |
Het |
| Ecm2 |
A |
T |
13: 49,677,922 (GRCm39) |
K403* |
probably null |
Het |
| Eif3d |
T |
C |
15: 77,843,924 (GRCm39) |
N474S |
probably benign |
Het |
| Elf1 |
T |
C |
14: 79,802,965 (GRCm39) |
L106P |
probably damaging |
Het |
| Exoc4 |
G |
C |
6: 33,273,857 (GRCm39) |
|
probably null |
Het |
| F12 |
T |
C |
13: 55,574,130 (GRCm39) |
D34G |
probably benign |
Het |
| Fam228b |
A |
T |
12: 4,798,117 (GRCm39) |
F200Y |
probably damaging |
Het |
| Fgl2 |
T |
A |
5: 21,580,661 (GRCm39) |
D334E |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,924,481 (GRCm39) |
F3641I |
probably benign |
Het |
| Gabrb2 |
T |
G |
11: 42,484,674 (GRCm39) |
Y244D |
probably damaging |
Het |
| Gcc1 |
A |
T |
6: 28,421,268 (GRCm39) |
D16E |
probably benign |
Het |
| Gga3 |
C |
A |
11: 115,477,915 (GRCm39) |
G558* |
probably null |
Het |
| Glt1d1 |
T |
C |
5: 127,740,391 (GRCm39) |
|
probably benign |
Het |
| Gorasp2 |
T |
C |
2: 70,521,067 (GRCm39) |
S346P |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,582 (GRCm39) |
S1048P |
probably damaging |
Het |
| Henmt1 |
T |
A |
3: 108,861,105 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
C |
5: 35,066,006 (GRCm39) |
K3060N |
probably damaging |
Het |
| Ibsp |
C |
T |
5: 104,450,024 (GRCm39) |
L8F |
probably damaging |
Het |
| Kif27 |
A |
T |
13: 58,451,378 (GRCm39) |
D983E |
probably damaging |
Het |
| Kif3a |
T |
A |
11: 53,481,560 (GRCm39) |
|
probably benign |
Het |
| Kif3c |
A |
C |
12: 3,417,090 (GRCm39) |
K370N |
possibly damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,468,256 (GRCm39) |
|
probably benign |
Het |
| Maz |
A |
T |
7: 126,623,758 (GRCm39) |
D74E |
probably damaging |
Het |
| Med21 |
T |
C |
6: 146,551,732 (GRCm39) |
S128P |
probably damaging |
Het |
| Mms19 |
A |
C |
19: 41,943,607 (GRCm39) |
M374R |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,657,571 (GRCm39) |
V801A |
probably damaging |
Het |
| Mrpl3 |
T |
C |
9: 104,932,872 (GRCm39) |
V111A |
probably benign |
Het |
| Mtfr2 |
T |
A |
10: 20,224,158 (GRCm39) |
Y31N |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,990,498 (GRCm39) |
R1677C |
probably damaging |
Het |
| Mynn |
T |
A |
3: 30,661,230 (GRCm39) |
*61K |
probably null |
Het |
| Neb |
A |
C |
2: 52,060,479 (GRCm39) |
M2286R |
possibly damaging |
Het |
| Ngf |
A |
T |
3: 102,427,661 (GRCm39) |
R137* |
probably null |
Het |
| Nr1i3 |
T |
A |
1: 171,041,982 (GRCm39) |
V22E |
probably damaging |
Het |
| Nxpe5 |
T |
C |
5: 138,249,566 (GRCm39) |
V452A |
probably damaging |
Het |
| Oas1e |
C |
A |
5: 120,933,395 (GRCm39) |
A57S |
probably benign |
Het |
| Or11g27 |
A |
T |
14: 50,771,151 (GRCm39) |
K94M |
probably damaging |
Het |
| Or14j10 |
T |
A |
17: 37,935,024 (GRCm39) |
R167S |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Pax3 |
A |
G |
1: 78,080,141 (GRCm39) |
L415P |
probably damaging |
Het |
| Pcnt |
G |
T |
10: 76,205,655 (GRCm39) |
|
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,714,672 (GRCm39) |
D183E |
possibly damaging |
Het |
| Pglyrp1 |
G |
T |
7: 18,623,313 (GRCm39) |
G120V |
probably damaging |
Het |
| Pnp2 |
T |
A |
14: 51,196,990 (GRCm39) |
Y25* |
probably null |
Het |
| Pomt1 |
T |
A |
2: 32,142,023 (GRCm39) |
H584Q |
possibly damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,089,193 (GRCm39) |
N611D |
possibly damaging |
Het |
| Prkcq |
G |
A |
2: 11,288,643 (GRCm39) |
G532E |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,501,980 (GRCm39) |
I116F |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,576,361 (GRCm39) |
T300S |
possibly damaging |
Het |
| Pwp1 |
A |
G |
10: 85,721,480 (GRCm39) |
T361A |
possibly damaging |
Het |
| Rab4a |
A |
T |
8: 124,554,081 (GRCm39) |
H5L |
probably damaging |
Het |
| Raet1e |
C |
A |
10: 22,056,761 (GRCm39) |
H112Q |
possibly damaging |
Het |
| Ramp1 |
T |
C |
1: 91,124,592 (GRCm39) |
I51T |
possibly damaging |
Het |
| Raph1 |
G |
T |
1: 60,565,058 (GRCm39) |
T143K |
probably benign |
Het |
| Rhpn1 |
A |
G |
15: 75,581,088 (GRCm39) |
E110G |
possibly damaging |
Het |
| Rnf168 |
A |
T |
16: 32,117,287 (GRCm39) |
T283S |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 51,977,857 (GRCm39) |
Y1463F |
possibly damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,797,430 (GRCm39) |
Q223R |
probably null |
Het |
| Rtp4 |
G |
T |
16: 23,431,679 (GRCm39) |
M70I |
probably benign |
Het |
| Sag |
C |
A |
1: 87,762,340 (GRCm39) |
T335K |
probably damaging |
Het |
| Satb1 |
T |
A |
17: 52,047,374 (GRCm39) |
Q647L |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,508,847 (GRCm39) |
|
probably benign |
Het |
| Sgo1 |
C |
T |
17: 53,986,691 (GRCm39) |
D167N |
probably damaging |
Het |
| Slco1a8 |
T |
C |
6: 141,936,147 (GRCm39) |
T313A |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,738,231 (GRCm39) |
I545V |
probably benign |
Het |
| St6gal1 |
G |
T |
16: 23,139,891 (GRCm39) |
A21S |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,530,300 (GRCm39) |
L2186I |
probably damaging |
Het |
| Sun2 |
T |
A |
15: 79,611,810 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,565,884 (GRCm39) |
T849M |
probably damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,129,473 (GRCm39) |
I79N |
probably damaging |
Het |
| Tdrd7 |
A |
G |
4: 45,987,582 (GRCm39) |
I72V |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,928,542 (GRCm39) |
V2652E |
possibly damaging |
Het |
| Trim30a |
C |
T |
7: 104,078,559 (GRCm39) |
|
probably null |
Het |
| Tshz3 |
A |
G |
7: 36,469,534 (GRCm39) |
T508A |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,053,908 (GRCm39) |
L757P |
probably damaging |
Het |
| Ubtd2 |
A |
C |
11: 32,449,223 (GRCm39) |
|
probably null |
Het |
| Ubtd2 |
G |
T |
11: 32,449,224 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
C |
T |
13: 23,321,225 (GRCm39) |
Q111* |
probably null |
Het |
| Vmn2r75 |
G |
A |
7: 85,797,309 (GRCm39) |
Q835* |
probably null |
Het |
| Vwa8 |
T |
A |
14: 79,331,179 (GRCm39) |
M1229K |
probably benign |
Het |
| Wdr76 |
C |
T |
2: 121,349,932 (GRCm39) |
R111C |
probably damaging |
Het |
| Xcr1 |
T |
A |
9: 123,684,940 (GRCm39) |
D274V |
possibly damaging |
Het |
| Ypel5 |
C |
T |
17: 73,153,332 (GRCm39) |
T12I |
probably benign |
Het |
|
| Other mutations in Celsr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Celsr2
|
APN |
3 |
108,321,195 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01020:Celsr2
|
APN |
3 |
108,310,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01420:Celsr2
|
APN |
3 |
108,301,079 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01448:Celsr2
|
APN |
3 |
108,300,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01559:Celsr2
|
APN |
3 |
108,314,183 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01674:Celsr2
|
APN |
3 |
108,322,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01863:Celsr2
|
APN |
3 |
108,301,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02309:Celsr2
|
APN |
3 |
108,303,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02325:Celsr2
|
APN |
3 |
108,320,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02409:Celsr2
|
APN |
3 |
108,321,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02514:Celsr2
|
APN |
3 |
108,304,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02812:Celsr2
|
APN |
3 |
108,321,429 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02894:Celsr2
|
APN |
3 |
108,302,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03281:Celsr2
|
APN |
3 |
108,320,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
barrow
|
UTSW |
3 |
108,302,281 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
goldeneye
|
UTSW |
3 |
108,302,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
1mM(1):Celsr2
|
UTSW |
3 |
108,308,154 (GRCm39) |
missense |
probably benign |
0.01 |
|
ANU74:Celsr2
|
UTSW |
3 |
108,319,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Celsr2
|
UTSW |
3 |
108,321,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Celsr2
|
UTSW |
3 |
108,320,718 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0031:Celsr2
|
UTSW |
3 |
108,320,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Celsr2
|
UTSW |
3 |
108,304,570 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0090:Celsr2
|
UTSW |
3 |
108,300,643 (GRCm39) |
splice site |
probably benign |
|
|
R0140:Celsr2
|
UTSW |
3 |
108,305,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0524:Celsr2
|
UTSW |
3 |
108,308,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Celsr2
|
UTSW |
3 |
108,311,211 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0662:Celsr2
|
UTSW |
3 |
108,305,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0690:Celsr2
|
UTSW |
3 |
108,322,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0691:Celsr2
|
UTSW |
3 |
108,319,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0710:Celsr2
|
UTSW |
3 |
108,320,028 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0730:Celsr2
|
UTSW |
3 |
108,305,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0815:Celsr2
|
UTSW |
3 |
108,308,617 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0848:Celsr2
|
UTSW |
3 |
108,321,654 (GRCm39) |
missense |
probably benign |
|
|
R0989:Celsr2
|
UTSW |
3 |
108,310,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1185:Celsr2
|
UTSW |
3 |
108,307,025 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1185:Celsr2
|
UTSW |
3 |
108,307,025 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1185:Celsr2
|
UTSW |
3 |
108,307,025 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1469:Celsr2
|
UTSW |
3 |
108,321,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Celsr2
|
UTSW |
3 |
108,321,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Celsr2
|
UTSW |
3 |
108,301,055 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1608:Celsr2
|
UTSW |
3 |
108,309,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1653:Celsr2
|
UTSW |
3 |
108,320,836 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1659:Celsr2
|
UTSW |
3 |
108,321,411 (GRCm39) |
missense |
probably benign |
|
|
R1689:Celsr2
|
UTSW |
3 |
108,314,620 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1848:Celsr2
|
UTSW |
3 |
108,308,626 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1859:Celsr2
|
UTSW |
3 |
108,303,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Celsr2
|
UTSW |
3 |
108,305,966 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1974:Celsr2
|
UTSW |
3 |
108,321,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Celsr2
|
UTSW |
3 |
108,309,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2167:Celsr2
|
UTSW |
3 |
108,320,509 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2333:Celsr2
|
UTSW |
3 |
108,305,921 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2434:Celsr2
|
UTSW |
3 |
108,311,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Celsr2
|
UTSW |
3 |
108,320,907 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3420:Celsr2
|
UTSW |
3 |
108,321,732 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3712:Celsr2
|
UTSW |
3 |
108,308,155 (GRCm39) |
missense |
probably benign |
|
|
R3723:Celsr2
|
UTSW |
3 |
108,304,731 (GRCm39) |
splice site |
probably benign |
|
|
R3809:Celsr2
|
UTSW |
3 |
108,310,555 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4018:Celsr2
|
UTSW |
3 |
108,302,281 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4126:Celsr2
|
UTSW |
3 |
108,309,413 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4177:Celsr2
|
UTSW |
3 |
108,321,294 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4232:Celsr2
|
UTSW |
3 |
108,321,088 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4293:Celsr2
|
UTSW |
3 |
108,300,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4458:Celsr2
|
UTSW |
3 |
108,302,313 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4621:Celsr2
|
UTSW |
3 |
108,302,532 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4645:Celsr2
|
UTSW |
3 |
108,303,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Celsr2
|
UTSW |
3 |
108,304,547 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4732:Celsr2
|
UTSW |
3 |
108,306,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4733:Celsr2
|
UTSW |
3 |
108,306,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4901:Celsr2
|
UTSW |
3 |
108,314,303 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4932:Celsr2
|
UTSW |
3 |
108,310,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Celsr2
|
UTSW |
3 |
108,319,945 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5052:Celsr2
|
UTSW |
3 |
108,319,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Celsr2
|
UTSW |
3 |
108,320,689 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5114:Celsr2
|
UTSW |
3 |
108,301,312 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5120:Celsr2
|
UTSW |
3 |
108,300,436 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5135:Celsr2
|
UTSW |
3 |
108,305,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5247:Celsr2
|
UTSW |
3 |
108,304,946 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5381:Celsr2
|
UTSW |
3 |
108,310,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5412:Celsr2
|
UTSW |
3 |
108,307,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5445:Celsr2
|
UTSW |
3 |
108,299,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5528:Celsr2
|
UTSW |
3 |
108,320,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5598:Celsr2
|
UTSW |
3 |
108,310,119 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5652:Celsr2
|
UTSW |
3 |
108,304,051 (GRCm39) |
missense |
probably null |
0.49 |
|
R5697:Celsr2
|
UTSW |
3 |
108,311,237 (GRCm39) |
nonsense |
probably null |
|
|
R5718:Celsr2
|
UTSW |
3 |
108,300,674 (GRCm39) |
missense |
probably benign |
|
|
R5869:Celsr2
|
UTSW |
3 |
108,321,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Celsr2
|
UTSW |
3 |
108,321,259 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6021:Celsr2
|
UTSW |
3 |
108,308,561 (GRCm39) |
missense |
probably benign |
|
|
R6054:Celsr2
|
UTSW |
3 |
108,314,279 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6244:Celsr2
|
UTSW |
3 |
108,300,444 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6313:Celsr2
|
UTSW |
3 |
108,308,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6322:Celsr2
|
UTSW |
3 |
108,319,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6555:Celsr2
|
UTSW |
3 |
108,302,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6682:Celsr2
|
UTSW |
3 |
108,307,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7062:Celsr2
|
UTSW |
3 |
108,309,826 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7110:Celsr2
|
UTSW |
3 |
108,305,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Celsr2
|
UTSW |
3 |
108,322,675 (GRCm39) |
missense |
unknown |
|
|
R7326:Celsr2
|
UTSW |
3 |
108,302,311 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7425:Celsr2
|
UTSW |
3 |
108,309,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Celsr2
|
UTSW |
3 |
108,320,406 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7461:Celsr2
|
UTSW |
3 |
108,302,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7502:Celsr2
|
UTSW |
3 |
108,306,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7613:Celsr2
|
UTSW |
3 |
108,302,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Celsr2
|
UTSW |
3 |
108,320,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7666:Celsr2
|
UTSW |
3 |
108,305,904 (GRCm39) |
missense |
probably benign |
|
|
R7687:Celsr2
|
UTSW |
3 |
108,305,085 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7695:Celsr2
|
UTSW |
3 |
108,310,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8002:Celsr2
|
UTSW |
3 |
108,311,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Celsr2
|
UTSW |
3 |
108,319,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8283:Celsr2
|
UTSW |
3 |
108,303,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Celsr2
|
UTSW |
3 |
108,320,847 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8381:Celsr2
|
UTSW |
3 |
108,302,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Celsr2
|
UTSW |
3 |
108,299,949 (GRCm39) |
makesense |
probably null |
|
|
R8435:Celsr2
|
UTSW |
3 |
108,321,715 (GRCm39) |
missense |
probably benign |
|
|
R8438:Celsr2
|
UTSW |
3 |
108,301,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Celsr2
|
UTSW |
3 |
108,306,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8460:Celsr2
|
UTSW |
3 |
108,304,093 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8462:Celsr2
|
UTSW |
3 |
108,320,167 (GRCm39) |
nonsense |
probably null |
|
|
R8479:Celsr2
|
UTSW |
3 |
108,306,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8480:Celsr2
|
UTSW |
3 |
108,306,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8512:Celsr2
|
UTSW |
3 |
108,321,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Celsr2
|
UTSW |
3 |
108,314,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Celsr2
|
UTSW |
3 |
108,304,389 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8843:Celsr2
|
UTSW |
3 |
108,303,443 (GRCm39) |
splice site |
probably benign |
|
|
R8888:Celsr2
|
UTSW |
3 |
108,320,880 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8895:Celsr2
|
UTSW |
3 |
108,320,880 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8917:Celsr2
|
UTSW |
3 |
108,303,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9119:Celsr2
|
UTSW |
3 |
108,309,288 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9169:Celsr2
|
UTSW |
3 |
108,309,862 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9209:Celsr2
|
UTSW |
3 |
108,321,349 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9342:Celsr2
|
UTSW |
3 |
108,320,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9416:Celsr2
|
UTSW |
3 |
108,322,084 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9493:Celsr2
|
UTSW |
3 |
108,301,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Celsr2
|
UTSW |
3 |
108,321,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Celsr2
|
UTSW |
3 |
108,322,578 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9629:Celsr2
|
UTSW |
3 |
108,308,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9691:Celsr2
|
UTSW |
3 |
108,301,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Celsr2
|
UTSW |
3 |
108,303,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0050:Celsr2
|
UTSW |
3 |
108,308,588 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1088:Celsr2
|
UTSW |
3 |
108,321,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Celsr2
|
UTSW |
3 |
108,319,657 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1176:Celsr2
|
UTSW |
3 |
108,300,447 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Celsr2
|
UTSW |
3 |
108,320,887 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1177:Celsr2
|
UTSW |
3 |
108,319,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Celsr2
|
UTSW |
3 |
108,321,865 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTCCAGAAGACACAGATGGGC -3'
(R):5'- TGAGCGTAGCAGCATTTACTTCCAG -3'
Sequencing Primer
(F):5'- TGAACGCTGATGCTCACC -3'
(R):5'- AGCATTTACTTCCAGAGATGCC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation