Incidental Mutation 'IGL01768:Cdh9'
| ID |
153998 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdh9
|
| Ensembl Gene |
ENSMUSG00000025370 |
| Gene Name |
cadherin 9 |
| Synonyms |
T1-cadherin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL01768
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
16728842-16857180 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16778311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 42
(D42V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026432]
[ENSMUST00000228307]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026432
AA Change: D42V
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: D42V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CA
|
75 |
156 |
2.84e-15 |
SMART |
|
CA
|
180 |
265 |
5.63e-28 |
SMART |
|
CA
|
289 |
381 |
1.12e-13 |
SMART |
|
CA
|
404 |
485 |
8.03e-24 |
SMART |
|
CA
|
508 |
595 |
1.34e-2 |
SMART |
|
transmembrane domain
|
613 |
635 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
638 |
782 |
1.5e-54 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228307
AA Change: D42V
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout results in the formation of abnormal axonal arbors in some retinal type 5 bipolar cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aifm3 |
T |
C |
16: 17,324,141 (GRCm39) |
V567A |
possibly damaging |
Het |
| Arnt |
T |
C |
3: 95,398,327 (GRCm39) |
|
probably benign |
Het |
| C8b |
G |
A |
4: 104,644,151 (GRCm39) |
E273K |
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,774,480 (GRCm39) |
R570H |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,044,123 (GRCm39) |
S21P |
probably damaging |
Het |
| Cdkl3 |
T |
A |
11: 51,916,744 (GRCm39) |
F291I |
probably damaging |
Het |
| Cfap210 |
A |
T |
2: 69,612,471 (GRCm39) |
|
probably benign |
Het |
| Clmn |
T |
C |
12: 104,747,978 (GRCm39) |
E523G |
probably damaging |
Het |
| Cyp4f14 |
A |
T |
17: 33,126,976 (GRCm39) |
I318N |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 72,036,659 (GRCm39) |
F1068L |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,621,455 (GRCm39) |
|
probably benign |
Het |
| F5 |
T |
A |
1: 164,003,914 (GRCm39) |
F236L |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,394 (GRCm39) |
V3606A |
probably damaging |
Het |
| Gpam |
G |
A |
19: 55,075,952 (GRCm39) |
T220M |
probably benign |
Het |
| Hyal1 |
C |
A |
9: 107,456,338 (GRCm39) |
L342I |
probably damaging |
Het |
| Ilvbl |
C |
A |
10: 78,419,127 (GRCm39) |
P459T |
possibly damaging |
Het |
| Itga5 |
A |
G |
15: 103,259,997 (GRCm39) |
Y632H |
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,899 (GRCm39) |
L217M |
possibly damaging |
Het |
| Krt73 |
T |
C |
15: 101,707,291 (GRCm39) |
D299G |
probably benign |
Het |
| Lcp1 |
T |
C |
14: 75,461,573 (GRCm39) |
V522A |
probably benign |
Het |
| Lmo3 |
A |
G |
6: 138,393,495 (GRCm39) |
C53R |
probably damaging |
Het |
| Nsun7 |
T |
C |
5: 66,436,043 (GRCm39) |
V305A |
probably benign |
Het |
| Oprm1 |
T |
C |
10: 6,779,186 (GRCm39) |
S196P |
probably damaging |
Het |
| Or2y1e |
G |
A |
11: 49,218,958 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or4z4 |
A |
T |
19: 12,076,403 (GRCm39) |
I200N |
probably damaging |
Het |
| Or7e168 |
G |
A |
9: 19,720,456 (GRCm39) |
V281M |
possibly damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,888,667 (GRCm39) |
|
probably null |
Het |
| Pcdhb20 |
T |
C |
18: 37,639,768 (GRCm39) |
F765L |
possibly damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,547,664 (GRCm39) |
V3A |
probably benign |
Het |
| Ruvbl1 |
A |
G |
6: 88,474,253 (GRCm39) |
I419V |
probably benign |
Het |
| Scara5 |
T |
A |
14: 65,927,224 (GRCm39) |
C40* |
probably null |
Het |
| Siglec1 |
T |
C |
2: 130,916,314 (GRCm39) |
Q1212R |
probably benign |
Het |
| Slc31a1 |
G |
A |
4: 62,306,273 (GRCm39) |
|
probably null |
Het |
| Sparc |
G |
T |
11: 55,296,069 (GRCm39) |
N87K |
probably damaging |
Het |
| Tcf12 |
T |
C |
9: 71,776,278 (GRCm39) |
|
probably null |
Het |
| Timm44 |
A |
T |
8: 4,316,860 (GRCm39) |
F258I |
probably benign |
Het |
| Tm2d2 |
G |
T |
8: 25,508,095 (GRCm39) |
V80L |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,320,199 (GRCm39) |
D2249G |
possibly damaging |
Het |
| Trim50 |
G |
T |
5: 135,392,736 (GRCm39) |
G217V |
possibly damaging |
Het |
| Ugcg |
T |
C |
4: 59,217,216 (GRCm39) |
|
probably null |
Het |
| Vmn2r107 |
A |
T |
17: 20,565,868 (GRCm39) |
H61L |
probably benign |
Het |
| Zfp84 |
A |
G |
7: 29,476,091 (GRCm39) |
H261R |
probably benign |
Het |
| Zswim2 |
A |
T |
2: 83,748,301 (GRCm39) |
M293K |
probably benign |
Het |
|
| Other mutations in Cdh9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Cdh9
|
APN |
15 |
16,828,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00555:Cdh9
|
APN |
15 |
16,823,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01110:Cdh9
|
APN |
15 |
16,856,012 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01432:Cdh9
|
APN |
15 |
16,831,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02043:Cdh9
|
APN |
15 |
16,856,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02304:Cdh9
|
APN |
15 |
16,848,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02380:Cdh9
|
APN |
15 |
16,856,086 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02505:Cdh9
|
APN |
15 |
16,856,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:Cdh9
|
APN |
15 |
16,849,162 (GRCm39) |
splice site |
probably null |
|
|
IGL02679:Cdh9
|
APN |
15 |
16,832,316 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03288:Cdh9
|
APN |
15 |
16,856,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Cdh9
|
UTSW |
15 |
16,823,540 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0726:Cdh9
|
UTSW |
15 |
16,831,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1335:Cdh9
|
UTSW |
15 |
16,850,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1368:Cdh9
|
UTSW |
15 |
16,848,568 (GRCm39) |
splice site |
probably benign |
|
|
R1766:Cdh9
|
UTSW |
15 |
16,778,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Cdh9
|
UTSW |
15 |
16,823,361 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2325:Cdh9
|
UTSW |
15 |
16,778,286 (GRCm39) |
missense |
probably benign |
|
|
R2424:Cdh9
|
UTSW |
15 |
16,850,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3104:Cdh9
|
UTSW |
15 |
16,855,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3837:Cdh9
|
UTSW |
15 |
16,823,524 (GRCm39) |
nonsense |
probably null |
|
|
R3839:Cdh9
|
UTSW |
15 |
16,823,524 (GRCm39) |
nonsense |
probably null |
|
|
R4241:Cdh9
|
UTSW |
15 |
16,849,165 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4248:Cdh9
|
UTSW |
15 |
16,850,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4576:Cdh9
|
UTSW |
15 |
16,832,325 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4679:Cdh9
|
UTSW |
15 |
16,851,045 (GRCm39) |
missense |
probably benign |
|
|
R4896:Cdh9
|
UTSW |
15 |
16,778,242 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4961:Cdh9
|
UTSW |
15 |
16,850,914 (GRCm39) |
missense |
probably benign |
|
|
R5050:Cdh9
|
UTSW |
15 |
16,778,233 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5089:Cdh9
|
UTSW |
15 |
16,778,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5268:Cdh9
|
UTSW |
15 |
16,851,099 (GRCm39) |
missense |
probably benign |
|
|
R5567:Cdh9
|
UTSW |
15 |
16,855,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Cdh9
|
UTSW |
15 |
16,823,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5894:Cdh9
|
UTSW |
15 |
16,832,186 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6440:Cdh9
|
UTSW |
15 |
16,823,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6441:Cdh9
|
UTSW |
15 |
16,823,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7225:Cdh9
|
UTSW |
15 |
16,856,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:Cdh9
|
UTSW |
15 |
16,778,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Cdh9
|
UTSW |
15 |
16,823,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7615:Cdh9
|
UTSW |
15 |
16,856,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Cdh9
|
UTSW |
15 |
16,851,115 (GRCm39) |
splice site |
probably null |
|
|
R7991:Cdh9
|
UTSW |
15 |
16,828,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8035:Cdh9
|
UTSW |
15 |
16,831,152 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8834:Cdh9
|
UTSW |
15 |
16,850,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8909:Cdh9
|
UTSW |
15 |
16,848,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8936:Cdh9
|
UTSW |
15 |
16,831,162 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8973:Cdh9
|
UTSW |
15 |
16,831,131 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9138:Cdh9
|
UTSW |
15 |
16,823,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9305:Cdh9
|
UTSW |
15 |
16,832,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF006:Cdh9
|
UTSW |
15 |
16,855,916 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0062:Cdh9
|
UTSW |
15 |
16,848,625 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1177:Cdh9
|
UTSW |
15 |
16,850,450 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2014-02-04 |
Incidental Mutation