Incidental Mutation 'IGL03288:Cdh9'
| ID |
415783 |
| 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 # |
IGL03288
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
16728842-16857180 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16856135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 725
(D725V)
|
| 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: D725V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: D725V
| 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 |
probably damaging
Transcript: ENSMUST00000228307
AA Change: D725V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
C |
5: 62,761,959 (GRCm39) |
K1589R |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,240,293 (GRCm39) |
F17L |
probably damaging |
Het |
| Ccdc17 |
T |
A |
4: 116,456,626 (GRCm39) |
L465H |
probably damaging |
Het |
| Cert1 |
T |
A |
13: 96,770,700 (GRCm39) |
D536E |
probably benign |
Het |
| Chl1 |
C |
T |
6: 103,652,058 (GRCm39) |
R309C |
probably damaging |
Het |
| Dbt |
T |
A |
3: 116,341,847 (GRCm39) |
*483K |
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,785,907 (GRCm39) |
D29G |
unknown |
Het |
| Des |
T |
C |
1: 75,338,985 (GRCm39) |
I222T |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,891,323 (GRCm39) |
N776S |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,145,103 (GRCm39) |
L2712Q |
probably benign |
Het |
| Glb1l3 |
A |
C |
9: 26,729,601 (GRCm39) |
V622G |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,487,704 (GRCm39) |
D398G |
possibly damaging |
Het |
| Itgb3 |
T |
C |
11: 104,524,293 (GRCm39) |
M143T |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,245,047 (GRCm39) |
R245C |
probably damaging |
Het |
| Lgals9 |
G |
A |
11: 78,875,626 (GRCm39) |
A6V |
probably benign |
Het |
| Lman2l |
A |
T |
1: 36,482,628 (GRCm39) |
Y83N |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,256,383 (GRCm39) |
T4586S |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
A |
C |
5: 112,937,863 (GRCm39) |
L1754R |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,172,679 (GRCm39) |
L1202S |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,594,878 (GRCm39) |
E1441G |
probably damaging |
Het |
| Nme8 |
T |
C |
13: 19,880,776 (GRCm39) |
E60G |
possibly damaging |
Het |
| Npffr2 |
G |
T |
5: 89,731,020 (GRCm39) |
A317S |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,540,726 (GRCm39) |
D893G |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,858,681 (GRCm39) |
E410G |
possibly damaging |
Het |
| Or11h7 |
T |
C |
14: 50,890,832 (GRCm39) |
I46T |
possibly damaging |
Het |
| Or7e178 |
A |
G |
9: 20,247,207 (GRCm39) |
|
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,358 (GRCm39) |
D478G |
probably damaging |
Het |
| Phf13 |
T |
C |
4: 152,076,826 (GRCm39) |
D122G |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,271,243 (GRCm39) |
H3103Q |
probably benign |
Het |
| Prr11 |
A |
C |
11: 86,987,787 (GRCm39) |
|
probably null |
Het |
| Rac3 |
C |
T |
11: 120,614,092 (GRCm39) |
T118M |
possibly damaging |
Het |
| Rad54b |
T |
C |
4: 11,569,833 (GRCm39) |
S50P |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,419,747 (GRCm39) |
Q455R |
possibly damaging |
Het |
| Semp2l1 |
T |
A |
1: 32,584,841 (GRCm39) |
E356D |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,944,858 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,147,827 (GRCm39) |
I858F |
possibly damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,742,447 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
C |
4: 58,116,532 (GRCm39) |
V906G |
probably benign |
Het |
| Tlr4 |
A |
G |
4: 66,757,990 (GRCm39) |
E261G |
probably damaging |
Het |
| Zfp704 |
C |
T |
3: 9,504,951 (GRCm39) |
|
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,580,996 (GRCm39) |
|
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation