Incidental Mutation 'IGL02679:Cdh9'
| ID |
303298 |
| 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: 0.105)
|
| Stock # |
IGL02679
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
16728842-16857180 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16832316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 401
(I401T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026432]
[ENSMUST00000228307]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026432
AA Change: I401T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: I401T
| 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 |
noncoding transcript
Transcript: ENSMUST00000227900
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228307
AA Change: I401T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930442H23Rik |
T |
A |
10: 81,018,813 (GRCm39) |
|
probably benign |
Het |
| Adam5 |
A |
T |
8: 25,296,542 (GRCm39) |
Y302N |
probably damaging |
Het |
| Ankrd34c |
A |
T |
9: 89,612,132 (GRCm39) |
Y70N |
probably damaging |
Het |
| Asph |
G |
A |
4: 9,601,349 (GRCm39) |
P190S |
possibly damaging |
Het |
| Atp6v1h |
T |
C |
1: 5,194,525 (GRCm39) |
C235R |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,804,023 (GRCm39) |
L2049P |
probably benign |
Het |
| Capn2 |
T |
A |
1: 182,300,149 (GRCm39) |
I614F |
probably benign |
Het |
| Ccdc126 |
T |
A |
6: 49,310,995 (GRCm39) |
M1K |
probably null |
Het |
| Cep57l1 |
T |
C |
10: 41,605,382 (GRCm39) |
E121G |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,194,386 (GRCm39) |
I2276T |
probably damaging |
Het |
| Cnnm3 |
T |
C |
1: 36,559,239 (GRCm39) |
S490P |
probably benign |
Het |
| D430041D05Rik |
C |
T |
2: 104,060,650 (GRCm39) |
V731I |
possibly damaging |
Het |
| Dynlt2b |
T |
C |
16: 32,244,125 (GRCm39) |
V107A |
possibly damaging |
Het |
| Fgf3 |
C |
A |
7: 144,394,487 (GRCm39) |
N100K |
probably damaging |
Het |
| Gas7 |
G |
A |
11: 67,566,553 (GRCm39) |
|
probably null |
Het |
| Gfm1 |
C |
T |
3: 67,382,100 (GRCm39) |
P725S |
possibly damaging |
Het |
| Gimap4 |
T |
A |
6: 48,667,429 (GRCm39) |
C61* |
probably null |
Het |
| Greb1 |
C |
T |
12: 16,758,724 (GRCm39) |
R664Q |
probably damaging |
Het |
| Kpnb1 |
T |
A |
11: 97,068,086 (GRCm39) |
I295F |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,835,410 (GRCm39) |
E1577G |
probably benign |
Het |
| Lrrk1 |
C |
T |
7: 65,924,620 (GRCm39) |
V235M |
probably damaging |
Het |
| Meak7 |
A |
T |
8: 120,499,149 (GRCm39) |
D114E |
probably benign |
Het |
| Mipol1 |
T |
A |
12: 57,352,829 (GRCm39) |
V56E |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,442,621 (GRCm39) |
I1927V |
probably benign |
Het |
| Ncaph |
A |
T |
2: 126,966,784 (GRCm39) |
N223K |
possibly damaging |
Het |
| Nipbl |
A |
G |
15: 8,325,037 (GRCm39) |
M2542T |
probably benign |
Het |
| Nolc1 |
C |
A |
19: 46,071,468 (GRCm39) |
|
probably benign |
Het |
| Or10j5 |
G |
A |
1: 172,784,743 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or51h1 |
A |
G |
7: 102,308,384 (GRCm39) |
M119V |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,393,441 (GRCm39) |
|
probably null |
Het |
| Ppat |
A |
T |
5: 77,067,316 (GRCm39) |
C306S |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,717,320 (GRCm39) |
M1821L |
possibly damaging |
Het |
| Rabl3 |
C |
T |
16: 37,362,287 (GRCm39) |
S42L |
probably damaging |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
G |
A |
19: 27,827,137 (GRCm39) |
H150Y |
possibly damaging |
Het |
| Rngtt |
A |
G |
4: 33,356,098 (GRCm39) |
M312V |
possibly damaging |
Het |
| Slc10a2 |
T |
A |
8: 5,148,499 (GRCm39) |
T149S |
probably damaging |
Het |
| Spata21 |
T |
C |
4: 140,838,576 (GRCm39) |
|
probably benign |
Het |
| Stx8 |
G |
T |
11: 67,860,598 (GRCm39) |
W6C |
probably damaging |
Het |
| Tcn2 |
T |
C |
11: 3,877,504 (GRCm39) |
E48G |
possibly damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,143,364 (GRCm39) |
N670K |
probably benign |
Het |
| Tmem255b |
G |
A |
8: 13,507,055 (GRCm39) |
M240I |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,186,445 (GRCm39) |
E651K |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,002,558 (GRCm39) |
T1498A |
probably benign |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,116 (GRCm39) |
C445Y |
probably damaging |
Het |
| Zfp429 |
T |
A |
13: 67,547,855 (GRCm39) |
|
probably benign |
Het |
| Zfp804b |
T |
G |
5: 6,821,392 (GRCm39) |
D557A |
possibly damaging |
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 |
|
IGL01768:Cdh9
|
APN |
15 |
16,778,311 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation