Incidental Mutation 'IGL02304:Cdh9'
| ID |
287525 |
| 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 # |
IGL02304
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
16728842-16857180 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16848687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 456
(T456S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026432]
[ENSMUST00000228307]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026432
AA Change: T456S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: T456S
| 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 benign
Transcript: ENSMUST00000228307
AA Change: T456S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
G |
T |
18: 69,083,122 (GRCm39) |
H31N |
unknown |
Het |
| Adamts8 |
A |
G |
9: 30,867,952 (GRCm39) |
N592S |
possibly damaging |
Het |
| Atp1a2 |
C |
A |
1: 172,116,920 (GRCm39) |
E232D |
probably benign |
Het |
| Cacnb3 |
A |
T |
15: 98,540,263 (GRCm39) |
D323V |
probably damaging |
Het |
| Cep162 |
A |
T |
9: 87,109,200 (GRCm39) |
|
probably benign |
Het |
| Clvs2 |
T |
C |
10: 33,404,443 (GRCm39) |
M258V |
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,805,613 (GRCm39) |
T1098A |
unknown |
Het |
| Foxs1 |
T |
C |
2: 152,774,270 (GRCm39) |
D261G |
probably benign |
Het |
| Gas2l2 |
T |
C |
11: 83,315,064 (GRCm39) |
|
probably benign |
Het |
| Gins4 |
A |
T |
8: 23,722,625 (GRCm39) |
M98K |
probably benign |
Het |
| Gm9637 |
A |
T |
14: 19,402,545 (GRCm38) |
|
noncoding transcript |
Het |
| Herc1 |
A |
G |
9: 66,383,696 (GRCm39) |
D3720G |
probably benign |
Het |
| Kcnh5 |
C |
T |
12: 75,023,471 (GRCm39) |
M532I |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,295 (GRCm39) |
Y147H |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,849,738 (GRCm39) |
F55Y |
probably damaging |
Het |
| Krt15 |
T |
A |
11: 100,024,503 (GRCm39) |
I278F |
possibly damaging |
Het |
| L3mbtl4 |
T |
A |
17: 68,894,180 (GRCm39) |
Y395* |
probably null |
Het |
| Mcm3ap |
T |
A |
10: 76,320,572 (GRCm39) |
N843K |
possibly damaging |
Het |
| Mpdz |
T |
C |
4: 81,228,394 (GRCm39) |
K1337E |
possibly damaging |
Het |
| Mpdz |
G |
A |
4: 81,215,796 (GRCm39) |
|
probably benign |
Het |
| Ms4a6d |
T |
C |
19: 11,580,505 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
G |
T |
7: 97,726,943 (GRCm39) |
R922S |
possibly damaging |
Het |
| Nek1 |
G |
T |
8: 61,465,201 (GRCm39) |
G97C |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,967,448 (GRCm39) |
Y2963H |
probably damaging |
Het |
| Or4k44 |
T |
C |
2: 111,367,746 (GRCm39) |
N296S |
probably benign |
Het |
| Or4k6 |
T |
C |
14: 50,476,217 (GRCm39) |
N42D |
probably damaging |
Het |
| Or5w15 |
C |
T |
2: 87,568,330 (GRCm39) |
V113M |
probably benign |
Het |
| Prmt3 |
G |
A |
7: 49,476,485 (GRCm39) |
V365I |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,511,705 (GRCm39) |
T958A |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,167,164 (GRCm39) |
Y947H |
probably damaging |
Het |
| Pus10 |
C |
T |
11: 23,662,275 (GRCm39) |
S315L |
probably damaging |
Het |
| Rmi1 |
C |
A |
13: 58,557,290 (GRCm39) |
S513* |
probably null |
Het |
| Sec14l3 |
C |
T |
11: 4,024,768 (GRCm39) |
P239L |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,320,723 (GRCm39) |
T93A |
possibly damaging |
Het |
| Srsf3-ps |
C |
T |
11: 98,516,364 (GRCm39) |
R3H |
probably benign |
Het |
| Stat1 |
G |
A |
1: 52,171,703 (GRCm39) |
A125T |
probably benign |
Het |
| Tigd2 |
C |
T |
6: 59,188,683 (GRCm39) |
Q517* |
probably null |
Het |
| Trav13d-3 |
C |
T |
14: 53,270,837 (GRCm39) |
Q100* |
probably null |
Het |
| Trim67 |
G |
A |
8: 125,552,691 (GRCm39) |
D598N |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,735,522 (GRCm39) |
L2856P |
probably 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 |
|
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 |
2015-04-16 |
Incidental Mutation