Incidental Mutation 'IGL00429:Cdh9'
| ID |
4115 |
| 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 # |
IGL00429
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
16728842-16857180 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16828448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 180
(V180A)
|
| 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: V180A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: V180A
| 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: V180A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009J07Rik |
G |
A |
10: 77,729,673 (GRCm39) |
|
probably benign |
Het |
| 4933411K16Rik |
T |
C |
19: 42,040,983 (GRCm39) |
L38P |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,059,255 (GRCm39) |
|
probably null |
Het |
| Abca15 |
T |
A |
7: 119,996,277 (GRCm39) |
I1401N |
probably damaging |
Het |
| Adam3 |
A |
C |
8: 25,184,294 (GRCm39) |
Y569D |
probably damaging |
Het |
| Ap2a1 |
T |
C |
7: 44,555,192 (GRCm39) |
S458G |
probably damaging |
Het |
| Asxl3 |
C |
T |
18: 22,658,280 (GRCm39) |
P2097S |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,504,145 (GRCm39) |
D607G |
probably benign |
Het |
| Ccdc158 |
C |
A |
5: 92,805,740 (GRCm39) |
M338I |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,256,920 (GRCm39) |
S735P |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,432,171 (GRCm39) |
|
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,691,668 (GRCm39) |
V180A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,166,826 (GRCm39) |
T1672S |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,340 (GRCm39) |
L141Q |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,127,597 (GRCm39) |
E313G |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,693,809 (GRCm39) |
T593A |
probably benign |
Het |
| H2bc14 |
T |
C |
13: 21,906,310 (GRCm39) |
S15P |
possibly damaging |
Het |
| Il18r1 |
G |
A |
1: 40,537,812 (GRCm39) |
E526K |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,887,022 (GRCm39) |
H109L |
possibly damaging |
Het |
| Mab21l1 |
A |
C |
3: 55,690,557 (GRCm39) |
Q48P |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,294 (GRCm39) |
K1474N |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,714,109 (GRCm39) |
F237L |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,790,449 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
A |
C |
2: 156,872,784 (GRCm39) |
F909C |
probably damaging |
Het |
| Myh2 |
C |
T |
11: 67,071,616 (GRCm39) |
Q478* |
probably null |
Het |
| Mylip |
C |
A |
13: 45,562,043 (GRCm39) |
P282T |
probably benign |
Het |
| Mymk |
T |
C |
2: 26,952,799 (GRCm39) |
Y103C |
probably damaging |
Het |
| Necab1 |
A |
T |
4: 15,052,656 (GRCm39) |
N107K |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,730,753 (GRCm39) |
|
probably benign |
Het |
| Phgdh |
T |
C |
3: 98,235,631 (GRCm39) |
K129E |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,139,026 (GRCm39) |
Y1714C |
probably damaging |
Het |
| Pm20d2 |
A |
G |
4: 33,187,205 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,296,801 (GRCm39) |
T172A |
probably benign |
Het |
| Prkca |
T |
C |
11: 108,234,334 (GRCm39) |
T54A |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,328,410 (GRCm39) |
D295G |
probably benign |
Het |
| Rdh12 |
A |
G |
12: 79,258,176 (GRCm39) |
I68V |
probably benign |
Het |
| Slc14a2 |
A |
G |
18: 78,193,653 (GRCm39) |
F850L |
possibly damaging |
Het |
| Smad2 |
A |
T |
18: 76,431,566 (GRCm39) |
S185C |
possibly damaging |
Het |
| Trav13n-4 |
T |
A |
14: 53,601,288 (GRCm39) |
L19Q |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,132,311 (GRCm39) |
C844* |
probably null |
Het |
| Vwce |
T |
A |
19: 10,641,875 (GRCm39) |
|
probably null |
Het |
| Wdr95 |
T |
C |
5: 149,518,709 (GRCm39) |
|
probably benign |
Het |
| Zfp143 |
T |
C |
7: 109,690,979 (GRCm39) |
I510T |
probably damaging |
Het |
| Zfp930 |
G |
T |
8: 69,680,634 (GRCm39) |
K90N |
probably damaging |
Het |
|
| Other mutations in Cdh9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-04-20 |
Incidental Mutation