Incidental Mutation 'R4989:Celsr2'
| ID |
386010 |
| 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 |
042583-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4989 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108298167-108323383 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108319945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 956
(I956V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090558]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090558
AA Change: I956V
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000088046
Gene: ENSMUSG00000068740
AA Change: I956V
| 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 |
|
| Meta Mutation Damage Score |
0.0993 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (115/115) |
| 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: 114 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Acot6 |
A |
G |
12: 84,155,789 (GRCm39) |
K246E |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,808,615 (GRCm39) |
H979Q |
probably damaging |
Het |
| Adal |
T |
A |
2: 120,986,030 (GRCm39) |
|
probably benign |
Het |
| Add2 |
G |
A |
6: 86,087,840 (GRCm39) |
V596I |
probably benign |
Het |
| Adrb3 |
A |
C |
8: 27,717,798 (GRCm39) |
M217R |
probably damaging |
Het |
| Ank1 |
T |
C |
8: 23,631,134 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,757,094 (GRCm39) |
N1054K |
possibly damaging |
Het |
| Ankib1 |
T |
C |
5: 3,763,217 (GRCm39) |
Y504C |
probably damaging |
Het |
| Ankrd29 |
T |
C |
18: 12,395,242 (GRCm39) |
K217R |
probably damaging |
Het |
| Ankrd45 |
T |
C |
1: 160,982,876 (GRCm39) |
V129A |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,275,835 (GRCm39) |
D389V |
probably benign |
Het |
| Aph1a |
G |
T |
3: 95,802,843 (GRCm39) |
G148W |
probably damaging |
Het |
| Arhgef26 |
G |
A |
3: 62,247,806 (GRCm39) |
D297N |
possibly damaging |
Het |
| Atxn7l3b |
C |
A |
10: 112,764,649 (GRCm39) |
|
probably benign |
Het |
| Auh |
A |
G |
13: 52,995,065 (GRCm39) |
S167P |
probably damaging |
Het |
| Bach1 |
A |
T |
16: 87,515,888 (GRCm39) |
K143I |
possibly damaging |
Het |
| Bbx |
T |
A |
16: 50,045,101 (GRCm39) |
T487S |
probably damaging |
Het |
| Bche |
T |
G |
3: 73,609,177 (GRCm39) |
D83A |
probably benign |
Het |
| Bri3bp |
G |
T |
5: 125,518,760 (GRCm39) |
|
probably benign |
Het |
| Cd3d |
A |
T |
9: 44,896,296 (GRCm39) |
E28D |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,965,366 (GRCm39) |
T1028A |
probably damaging |
Het |
| Ceacam23 |
A |
G |
7: 17,639,143 (GRCm39) |
|
probably null |
Het |
| Cep95 |
A |
T |
11: 106,707,480 (GRCm39) |
|
probably null |
Het |
| Cic |
G |
T |
7: 24,986,535 (GRCm39) |
G1289C |
probably damaging |
Het |
| Cndp1 |
A |
G |
18: 84,650,025 (GRCm39) |
Y223H |
probably damaging |
Het |
| Cops8 |
A |
G |
1: 90,538,724 (GRCm39) |
D51G |
probably damaging |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,623 (GRCm39) |
E194G |
probably benign |
Het |
| Ctsm |
A |
G |
13: 61,686,776 (GRCm39) |
Y39H |
probably damaging |
Het |
| Dhrs2 |
T |
C |
14: 55,474,722 (GRCm39) |
V119A |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,935,093 (GRCm39) |
M1336K |
probably benign |
Het |
| Dsp |
G |
A |
13: 38,381,678 (GRCm39) |
D2808N |
possibly damaging |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Epas1 |
A |
G |
17: 87,116,882 (GRCm39) |
N184S |
probably damaging |
Het |
| Erich3 |
C |
T |
3: 154,454,025 (GRCm39) |
T597I |
possibly damaging |
Het |
| F10 |
T |
C |
8: 13,105,698 (GRCm39) |
V421A |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Fcgrt |
C |
T |
7: 44,751,372 (GRCm39) |
G192D |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,798,541 (GRCm39) |
E1184G |
possibly damaging |
Het |
| Garre1 |
A |
C |
7: 33,945,225 (GRCm39) |
Y552D |
probably damaging |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gvin-ps5 |
A |
T |
7: 105,928,664 (GRCm39) |
|
noncoding transcript |
Het |
| Hadh |
A |
T |
3: 131,029,197 (GRCm39) |
L274* |
probably null |
Het |
| Hus1 |
T |
C |
11: 8,956,027 (GRCm39) |
S169G |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,290,554 (GRCm39) |
I3338F |
possibly damaging |
Het |
| Ighv11-1 |
T |
G |
12: 113,945,768 (GRCm39) |
E28D |
probably benign |
Het |
| Kctd9 |
C |
T |
14: 67,966,805 (GRCm39) |
T106I |
probably damaging |
Het |
| Krit1 |
A |
T |
5: 3,872,238 (GRCm39) |
N421I |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,376,677 (GRCm39) |
D1619G |
probably damaging |
Het |
| Lpar6 |
G |
A |
14: 73,476,147 (GRCm39) |
C36Y |
probably damaging |
Het |
| Lrrc37a |
G |
C |
11: 103,347,565 (GRCm39) |
F3043L |
unknown |
Het |
| Lrrc46 |
A |
T |
11: 96,931,765 (GRCm39) |
V19D |
probably damaging |
Het |
| Mapkap1 |
G |
T |
2: 34,471,303 (GRCm39) |
S197I |
probably damaging |
Het |
| Mrps35 |
A |
C |
6: 146,961,645 (GRCm39) |
K173N |
possibly damaging |
Het |
| Mtf2 |
A |
G |
5: 108,220,894 (GRCm39) |
|
probably benign |
Het |
| Ncf1 |
A |
C |
5: 134,252,267 (GRCm39) |
D261E |
probably damaging |
Het |
| Notch1 |
C |
T |
2: 26,371,193 (GRCm39) |
E298K |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,928,274 (GRCm39) |
|
probably benign |
Het |
| Or13a18 |
C |
A |
7: 140,190,304 (GRCm39) |
A75E |
possibly damaging |
Het |
| Or4x13 |
T |
A |
2: 90,231,107 (GRCm39) |
M34K |
probably benign |
Het |
| Or52a33 |
A |
G |
7: 103,289,308 (GRCm39) |
F13S |
probably damaging |
Het |
| Or5k3 |
T |
C |
16: 58,969,981 (GRCm39) |
L256P |
probably damaging |
Het |
| Or5v1 |
G |
T |
17: 37,810,017 (GRCm39) |
L158F |
probably benign |
Het |
| Otud4 |
G |
A |
8: 80,382,318 (GRCm39) |
V176I |
probably damaging |
Het |
| Pakap |
T |
A |
4: 57,856,552 (GRCm39) |
V668E |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,823,919 (GRCm39) |
|
probably null |
Het |
| Pgk2 |
A |
G |
17: 40,518,402 (GRCm39) |
V342A |
probably damaging |
Het |
| Phf2 |
G |
A |
13: 48,961,320 (GRCm39) |
A790V |
unknown |
Het |
| Prkdc |
T |
C |
16: 15,491,861 (GRCm39) |
I602T |
possibly damaging |
Het |
| Prl3d3 |
T |
C |
13: 27,343,072 (GRCm39) |
I86T |
possibly damaging |
Het |
| Prss8 |
G |
T |
7: 127,525,635 (GRCm39) |
Q295K |
probably benign |
Het |
| Ptpre |
C |
T |
7: 135,270,861 (GRCm39) |
H346Y |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,068,702 (GRCm39) |
L282P |
probably benign |
Het |
| Qrfpr |
A |
G |
3: 36,276,285 (GRCm39) |
V35A |
probably damaging |
Het |
| Rpf1 |
A |
G |
3: 146,212,293 (GRCm39) |
L349S |
probably damaging |
Het |
| Rpl41 |
G |
T |
10: 128,384,652 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
G |
C |
3: 95,672,632 (GRCm39) |
R924G |
probably benign |
Het |
| Serpini1 |
T |
A |
3: 75,521,795 (GRCm39) |
N95K |
probably benign |
Het |
| Sfxn1 |
A |
T |
13: 54,242,933 (GRCm39) |
T64S |
probably benign |
Het |
| Siae |
T |
G |
9: 37,557,816 (GRCm39) |
I541S |
possibly damaging |
Het |
| Slc25a4 |
T |
A |
8: 46,660,509 (GRCm39) |
K296N |
probably benign |
Het |
| Slc37a1 |
A |
G |
17: 31,541,120 (GRCm39) |
N204S |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,413,800 (GRCm39) |
N976S |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,672,019 (GRCm39) |
S847P |
possibly damaging |
Het |
| Smg1 |
A |
T |
7: 117,757,323 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
C |
T |
7: 117,807,274 (GRCm39) |
A168T |
probably benign |
Het |
| Sptlc1 |
A |
G |
13: 53,505,692 (GRCm39) |
I242T |
probably damaging |
Het |
| St8sia2 |
T |
C |
7: 73,616,709 (GRCm39) |
I89V |
possibly damaging |
Het |
| Supt20 |
A |
T |
3: 54,602,555 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,076,457 (GRCm39) |
D1659G |
probably benign |
Het |
| Tex10 |
C |
A |
4: 48,458,525 (GRCm39) |
|
probably benign |
Het |
| Thbs3 |
CAGAAG |
CAG |
3: 89,130,409 (GRCm39) |
|
probably benign |
Het |
| Tmbim6 |
C |
A |
15: 99,299,950 (GRCm39) |
S22* |
probably null |
Het |
| Tmc2 |
A |
T |
2: 130,043,961 (GRCm39) |
K65M |
possibly damaging |
Het |
| Tmod1 |
A |
G |
4: 46,090,872 (GRCm39) |
S142G |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trmt6 |
T |
C |
2: 132,650,191 (GRCm39) |
R349G |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,537,586 (GRCm39) |
T26454S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,605,122 (GRCm39) |
V16555I |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,384,042 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,850,790 (GRCm39) |
|
probably benign |
Het |
| Vmn1r17 |
A |
C |
6: 57,337,460 (GRCm39) |
F253V |
possibly damaging |
Het |
| Vmn1r201 |
G |
T |
13: 22,659,622 (GRCm39) |
A279S |
possibly damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,739 (GRCm39) |
R203S |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,633,926 (GRCm39) |
E43G |
probably benign |
Het |
| Wdr86 |
C |
T |
5: 24,917,843 (GRCm39) |
|
probably null |
Het |
| Wdsub1 |
A |
T |
2: 59,700,758 (GRCm39) |
|
probably benign |
Het |
| Zcchc7 |
T |
C |
4: 44,931,039 (GRCm39) |
L76P |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp263 |
T |
C |
16: 3,566,992 (GRCm39) |
C148R |
probably damaging |
Het |
| Zfp687 |
A |
C |
3: 94,917,697 (GRCm39) |
F692V |
probably damaging |
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 |
|
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 |
|
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'- TTATCATTGCGGTCAAGGAGG -3'
(R):5'- AGAGTCGACATCGGGCATTG -3'
Sequencing Primer
(F):5'- GCGGACATGGACAGTAGCC -3'
(R):5'- TGAGAACGTGGCCCAGTAC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation