Incidental Mutation 'R5894:Cdh9'
| ID |
457411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh9
|
| Ensembl Gene |
ENSMUSG00000025370 |
| Gene Name |
cadherin 9 |
| Synonyms |
T1-cadherin |
| MMRRC Submission |
043238-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R5894 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
16728842-16857180 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16832186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 358
(L358I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026432]
[ENSMUST00000228307]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026432
AA Change: L358I
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: L358I
| 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 |
possibly damaging
Transcript: ENSMUST00000228307
AA Change: L358I
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
A |
3: 146,356,680 (GRCm39) |
E76V |
probably benign |
Het |
| Adcy2 |
A |
T |
13: 68,773,971 (GRCm39) |
I1024N |
probably damaging |
Het |
| Agr2 |
A |
C |
12: 36,045,509 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
T |
A |
18: 65,414,143 (GRCm39) |
H1991L |
probably damaging |
Het |
| Amotl2 |
T |
A |
9: 102,602,371 (GRCm39) |
M448K |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,780,577 (GRCm39) |
F1876L |
probably damaging |
Het |
| Arl14 |
T |
C |
3: 69,130,009 (GRCm39) |
V52A |
probably benign |
Het |
| Atp6v1b2 |
T |
A |
8: 69,560,218 (GRCm39) |
|
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,724,732 (GRCm39) |
T409A |
possibly damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,782,852 (GRCm39) |
R19H |
possibly damaging |
Het |
| Ces2h |
T |
G |
8: 105,745,658 (GRCm39) |
I460M |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,272,006 (GRCm39) |
Y507H |
probably benign |
Het |
| Crlf3 |
T |
A |
11: 79,948,678 (GRCm39) |
R256W |
probably damaging |
Het |
| Csdc2 |
T |
A |
15: 81,832,881 (GRCm39) |
F96I |
probably damaging |
Het |
| Csk |
A |
C |
9: 57,535,958 (GRCm39) |
I264S |
probably damaging |
Het |
| Cyp2c29 |
G |
C |
19: 39,318,833 (GRCm39) |
A438P |
possibly damaging |
Het |
| Ddx43 |
G |
A |
9: 78,324,016 (GRCm39) |
G449D |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,529,235 (GRCm39) |
A106E |
possibly damaging |
Het |
| Fchsd2 |
C |
T |
7: 100,840,959 (GRCm39) |
T156I |
probably benign |
Het |
| Frs2 |
T |
A |
10: 116,917,011 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
C |
T |
3: 36,074,124 (GRCm39) |
E342K |
possibly damaging |
Het |
| Grid2ip |
A |
T |
5: 143,374,666 (GRCm39) |
T922S |
probably damaging |
Het |
| Grm1 |
A |
G |
10: 10,955,999 (GRCm39) |
L95P |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,252,893 (GRCm39) |
V348A |
possibly damaging |
Het |
| Insr |
A |
G |
8: 3,224,869 (GRCm39) |
S200P |
possibly damaging |
Het |
| Ints12 |
A |
T |
3: 132,804,319 (GRCm39) |
D102V |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,401,564 (GRCm39) |
D1057G |
probably damaging |
Het |
| Kng1 |
T |
A |
16: 22,892,113 (GRCm39) |
D225E |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,086,042 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
A |
G |
17: 71,553,929 (GRCm39) |
D882G |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,388,233 (GRCm39) |
F464Y |
probably benign |
Het |
| Musk |
G |
A |
4: 58,373,583 (GRCm39) |
C836Y |
probably damaging |
Het |
| Mx1 |
C |
T |
16: 97,255,406 (GRCm39) |
D216N |
probably damaging |
Het |
| Ndrg3 |
A |
T |
2: 156,770,698 (GRCm39) |
N350K |
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,895,019 (GRCm39) |
P990L |
probably damaging |
Het |
| Or4c111 |
T |
A |
2: 88,844,399 (GRCm39) |
N3I |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,647,557 (GRCm39) |
S296P |
possibly damaging |
Het |
| Or6c2 |
A |
G |
10: 129,362,357 (GRCm39) |
D87G |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,721,092 (GRCm39) |
L369P |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,231,088 (GRCm39) |
T57A |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,098,755 (GRCm39) |
T1420S |
possibly damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,743,798 (GRCm39) |
F201S |
probably damaging |
Het |
| Rnf214 |
A |
G |
9: 45,777,916 (GRCm39) |
V630A |
probably damaging |
Het |
| Rxrb |
T |
A |
17: 34,254,718 (GRCm39) |
I181N |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,939,581 (GRCm39) |
N69S |
probably damaging |
Het |
| Scyl2 |
A |
G |
10: 89,476,681 (GRCm39) |
S815P |
probably benign |
Het |
| Sgcd |
A |
G |
11: 47,246,028 (GRCm39) |
V58A |
probably damaging |
Het |
| Slc13a3 |
C |
T |
2: 165,266,543 (GRCm39) |
V374I |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,888,341 (GRCm39) |
I229N |
probably benign |
Het |
| Slc44a5 |
A |
G |
3: 153,962,210 (GRCm39) |
Y381C |
probably damaging |
Het |
| Sohlh1 |
A |
G |
2: 25,734,679 (GRCm39) |
S205P |
possibly damaging |
Het |
| Spata20 |
T |
C |
11: 94,374,444 (GRCm39) |
M308V |
probably damaging |
Het |
| Stag3 |
T |
G |
5: 138,297,100 (GRCm39) |
I550R |
probably damaging |
Het |
| Tac2 |
A |
G |
10: 127,561,971 (GRCm39) |
E25G |
possibly damaging |
Het |
| Tars2 |
T |
C |
3: 95,654,964 (GRCm39) |
|
probably null |
Het |
| Tefm |
G |
A |
11: 80,031,057 (GRCm39) |
R60C |
probably damaging |
Het |
| Trem3 |
T |
C |
17: 48,565,483 (GRCm39) |
V179A |
probably benign |
Het |
| Trim37 |
G |
T |
11: 87,092,266 (GRCm39) |
D692Y |
probably damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,508,133 (GRCm39) |
T173A |
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,600,486 (GRCm39) |
|
probably null |
Het |
| Usp18 |
A |
G |
6: 121,238,456 (GRCm39) |
K201R |
probably benign |
Het |
| Usp35 |
T |
A |
7: 96,962,284 (GRCm39) |
Y524F |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,752,734 (GRCm39) |
F208L |
probably damaging |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,654 (GRCm39) |
I255F |
probably damaging |
Het |
| Vstm2a |
A |
T |
11: 16,211,483 (GRCm39) |
I98F |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,855,317 (GRCm39) |
I766F |
possibly damaging |
Het |
| Wdr17 |
T |
A |
8: 55,149,335 (GRCm39) |
Y55F |
probably damaging |
Het |
| Xpot |
T |
C |
10: 121,449,551 (GRCm39) |
K172R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATAGTTACTTAGCGCTACTTG -3'
(R):5'- GGATGTATTTATTGCTGTGACTCAC -3'
Sequencing Primer
(F):5'- CAACGATTGCTATCTTCAGAT -3'
(R):5'- ACACAAATAGATAGATGCTTTTCAGG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation