Incidental Mutation 'IGL02505:Cdh9'
| ID |
296284 |
| 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 # |
IGL02505
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
16728842-16857180 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16856075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 705
(L705P)
|
| 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: L705P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: L705P
| 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: L705P
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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
C |
A |
9: 63,524,096 (GRCm39) |
L68M |
probably damaging |
Het |
| Abca13 |
T |
G |
11: 9,531,498 (GRCm39) |
L4575W |
probably damaging |
Het |
| Abcb11 |
A |
T |
2: 69,076,105 (GRCm39) |
V1201D |
probably damaging |
Het |
| Aldoa |
G |
T |
7: 126,395,166 (GRCm39) |
A252E |
probably damaging |
Het |
| Ap1b1 |
C |
T |
11: 4,981,700 (GRCm39) |
A536V |
probably benign |
Het |
| Arhgef3 |
A |
G |
14: 27,115,957 (GRCm39) |
H233R |
possibly damaging |
Het |
| Arhgef40 |
A |
T |
14: 52,238,320 (GRCm39) |
E1266D |
probably damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,062,642 (GRCm39) |
V622M |
probably damaging |
Het |
| Aup1 |
A |
G |
6: 83,032,258 (GRCm39) |
T142A |
probably benign |
Het |
| Bcl6 |
A |
T |
16: 23,796,319 (GRCm39) |
I36N |
probably damaging |
Het |
| Best1 |
A |
G |
19: 9,966,514 (GRCm39) |
S358P |
probably damaging |
Het |
| Cadps |
T |
G |
14: 12,449,759 (GRCm38) |
Q1150P |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 97,780,403 (GRCm39) |
E322D |
possibly damaging |
Het |
| Cd300ld2 |
A |
T |
11: 114,904,513 (GRCm39) |
M118K |
probably benign |
Het |
| Cep170b |
T |
G |
12: 112,709,504 (GRCm39) |
N436K |
probably damaging |
Het |
| Chil6 |
T |
A |
3: 106,313,278 (GRCm39) |
I24F |
probably benign |
Het |
| Chmp2a |
T |
A |
7: 12,767,782 (GRCm39) |
K48* |
probably null |
Het |
| Col19a1 |
C |
T |
1: 24,339,665 (GRCm39) |
|
probably benign |
Het |
| Cops7b |
C |
A |
1: 86,520,043 (GRCm39) |
Q65K |
probably benign |
Het |
| Cyp2e1 |
T |
A |
7: 140,349,069 (GRCm39) |
L133H |
probably damaging |
Het |
| Dkc1 |
T |
C |
X: 74,152,339 (GRCm39) |
|
probably benign |
Het |
| Erlec1 |
A |
G |
11: 30,900,767 (GRCm39) |
Y134H |
probably damaging |
Het |
| F8 |
C |
A |
X: 74,423,204 (GRCm39) |
|
probably benign |
Het |
| Fus |
G |
A |
7: 127,580,679 (GRCm39) |
R252Q |
possibly damaging |
Het |
| Fzd3 |
A |
T |
14: 65,490,555 (GRCm39) |
D9E |
probably benign |
Het |
| Gm15821 |
T |
C |
17: 34,433,259 (GRCm39) |
|
probably benign |
Het |
| Gm5117 |
C |
A |
8: 32,228,344 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
A |
G |
17: 35,644,152 (GRCm39) |
I45V |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,847,496 (GRCm39) |
|
probably null |
Het |
| Ifi204 |
T |
C |
1: 173,583,220 (GRCm39) |
K333E |
probably benign |
Het |
| Ildr1 |
G |
A |
16: 36,536,526 (GRCm39) |
G185D |
probably damaging |
Het |
| Itgb2 |
G |
A |
10: 77,383,052 (GRCm39) |
D141N |
probably damaging |
Het |
| Kdm1b |
G |
T |
13: 47,214,331 (GRCm39) |
D226Y |
probably damaging |
Het |
| Krt77 |
A |
G |
15: 101,769,381 (GRCm39) |
L460P |
probably damaging |
Het |
| Lamp3 |
A |
G |
16: 19,474,207 (GRCm39) |
I389T |
possibly damaging |
Het |
| Macroh2a1 |
A |
G |
13: 56,222,143 (GRCm39) |
V336A |
probably damaging |
Het |
| Mars1 |
C |
A |
10: 127,140,113 (GRCm39) |
E414* |
probably null |
Het |
| Mpg |
T |
C |
11: 32,180,042 (GRCm39) |
V190A |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,937,626 (GRCm39) |
I742M |
possibly damaging |
Het |
| Nell2 |
A |
T |
15: 95,194,144 (GRCm39) |
|
probably benign |
Het |
| Nmur1 |
T |
C |
1: 86,314,057 (GRCm39) |
D370G |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,009,578 (GRCm39) |
E28G |
probably benign |
Het |
| Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
| Or56a3 |
A |
T |
7: 104,735,540 (GRCm39) |
I206L |
probably benign |
Het |
| Or7a42 |
G |
T |
10: 78,791,767 (GRCm39) |
V243F |
probably benign |
Het |
| Or8b12c |
G |
A |
9: 37,715,627 (GRCm39) |
C140Y |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,899 (GRCm39) |
N589S |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,359,848 (GRCm39) |
L901P |
probably damaging |
Het |
| Plekhg1 |
G |
T |
10: 3,907,139 (GRCm39) |
K685N |
probably damaging |
Het |
| Prim1 |
T |
A |
10: 127,865,652 (GRCm39) |
*419R |
probably null |
Het |
| Ptk2b |
G |
T |
14: 66,391,692 (GRCm39) |
N905K |
probably damaging |
Het |
| Rbm34 |
T |
C |
8: 127,676,071 (GRCm39) |
I395V |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,822,438 (GRCm39) |
E912G |
possibly damaging |
Het |
| Rngtt |
T |
C |
4: 33,337,936 (GRCm39) |
V253A |
possibly damaging |
Het |
| Slc2a9 |
A |
G |
5: 38,594,002 (GRCm39) |
Y169H |
possibly damaging |
Het |
| Slc49a4 |
G |
T |
16: 35,555,928 (GRCm39) |
D177E |
probably benign |
Het |
| Susd4 |
C |
A |
1: 182,719,645 (GRCm39) |
T420K |
probably benign |
Het |
| Tdrd3 |
G |
A |
14: 87,749,118 (GRCm39) |
G676D |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,946,587 (GRCm39) |
K47E |
probably damaging |
Het |
| Tenm2 |
C |
A |
11: 35,942,743 (GRCm39) |
G1308* |
probably null |
Het |
| Tmprss15 |
A |
T |
16: 78,784,629 (GRCm39) |
D675E |
probably benign |
Het |
| Vmn1r84 |
A |
G |
7: 12,096,346 (GRCm39) |
C104R |
probably damaging |
Het |
| Vmn2r49 |
T |
A |
7: 9,710,378 (GRCm39) |
M785L |
probably benign |
Het |
| Vmn2r85 |
G |
T |
10: 130,261,449 (GRCm39) |
T296K |
probably damaging |
Het |
| Wdr3 |
C |
T |
3: 100,059,290 (GRCm39) |
S343N |
probably benign |
Het |
| Yju2 |
G |
T |
17: 56,269,051 (GRCm39) |
G53V |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 109,690,993 (GRCm39) |
M515L |
possibly damaging |
Het |
| Zfp735 |
A |
G |
11: 73,580,626 (GRCm39) |
I42V |
probably benign |
Het |
| Zswim5 |
A |
T |
4: 116,819,749 (GRCm39) |
M385L |
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 |
|
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