Incidental Mutation 'R5089:Cdh9'
| ID |
387655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh9
|
| Ensembl Gene |
ENSMUSG00000025370 |
| Gene Name |
cadherin 9 |
| Synonyms |
T1-cadherin |
| MMRRC Submission |
042678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R5089 (G1)
|
| Quality Score |
192 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
16728842-16857180 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16778362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 59
(F59Y)
|
| 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: F59Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: F59Y
| 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: F59Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.2860 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
98% (65/66) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
T |
C |
8: 117,698,672 (GRCm39) |
N145S |
possibly damaging |
Het |
| Acp2 |
T |
C |
2: 91,042,267 (GRCm39) |
|
probably benign |
Het |
| Adgrf2 |
G |
A |
17: 43,020,988 (GRCm39) |
A612V |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,651 (GRCm39) |
D2676E |
probably benign |
Het |
| Cct3 |
T |
G |
3: 88,208,150 (GRCm39) |
M46R |
probably damaging |
Het |
| Cdc123 |
T |
C |
2: 5,809,811 (GRCm39) |
D200G |
probably benign |
Het |
| Cluh |
A |
G |
11: 74,551,198 (GRCm39) |
E349G |
probably damaging |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
| Crbn |
T |
C |
6: 106,758,679 (GRCm39) |
H381R |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,681,519 (GRCm39) |
D991G |
probably damaging |
Het |
| Dhx16 |
A |
T |
17: 36,194,981 (GRCm39) |
M503L |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 63,007,248 (GRCm39) |
T650A |
probably benign |
Het |
| Etfa |
T |
A |
9: 55,396,150 (GRCm39) |
K139* |
probably null |
Het |
| Flnc |
T |
C |
6: 29,447,812 (GRCm39) |
I1205T |
probably damaging |
Het |
| Fzd6 |
T |
A |
15: 38,870,875 (GRCm39) |
C32S |
probably damaging |
Het |
| Gm1110 |
T |
A |
9: 26,793,683 (GRCm39) |
D515V |
probably damaging |
Het |
| Gm7676 |
T |
C |
8: 13,946,401 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr157 |
T |
C |
4: 150,186,750 (GRCm39) |
S293P |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,914,902 (GRCm39) |
D810G |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,876,942 (GRCm39) |
H1184R |
probably benign |
Het |
| Hoxc5 |
A |
T |
15: 102,922,487 (GRCm39) |
|
probably benign |
Het |
| Iah1 |
C |
T |
12: 21,373,309 (GRCm39) |
S196L |
possibly damaging |
Het |
| Il5 |
C |
T |
11: 53,612,655 (GRCm39) |
T55I |
possibly damaging |
Het |
| Kras |
T |
C |
6: 145,170,869 (GRCm39) |
K169E |
probably benign |
Het |
| Larp1 |
C |
A |
11: 57,938,693 (GRCm39) |
T492K |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,314,328 (GRCm39) |
D203G |
probably damaging |
Het |
| Lpcat2 |
G |
A |
8: 93,606,071 (GRCm39) |
V241M |
probably damaging |
Het |
| Mpeg1 |
G |
A |
19: 12,440,361 (GRCm39) |
M606I |
probably benign |
Het |
| Ms4a1 |
G |
A |
19: 11,236,176 (GRCm39) |
P4S |
probably benign |
Het |
| Nat10 |
A |
T |
2: 103,587,488 (GRCm39) |
|
probably benign |
Het |
| Ncaph2 |
T |
A |
15: 89,240,148 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
T |
A |
8: 108,078,070 (GRCm39) |
V403D |
probably damaging |
Het |
| Or2y10 |
T |
A |
11: 49,455,240 (GRCm39) |
M164K |
possibly damaging |
Het |
| Or4c109 |
A |
G |
2: 88,818,516 (GRCm39) |
F10S |
probably damaging |
Het |
| Pax7 |
T |
C |
4: 139,557,576 (GRCm39) |
H65R |
probably damaging |
Het |
| Phf20 |
C |
A |
2: 156,144,782 (GRCm39) |
H797N |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,455,283 (GRCm39) |
S4015T |
probably benign |
Het |
| Prdm5 |
C |
T |
6: 65,833,074 (GRCm39) |
H148Y |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,400,054 (GRCm39) |
|
probably null |
Het |
| Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,129,625 (GRCm39) |
|
probably null |
Het |
| Serpinb6b |
G |
A |
13: 33,162,133 (GRCm39) |
E192K |
probably benign |
Het |
| Shfl |
A |
T |
9: 20,780,212 (GRCm39) |
M1L |
probably benign |
Het |
| Skor1 |
A |
G |
9: 63,053,205 (GRCm39) |
S216P |
probably damaging |
Het |
| Slc51a |
A |
G |
16: 32,296,364 (GRCm39) |
|
probably null |
Het |
| Smarcb1 |
T |
C |
10: 75,751,013 (GRCm39) |
T74A |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,945,198 (GRCm39) |
Y107* |
probably null |
Het |
| Spmip5 |
A |
T |
19: 58,774,678 (GRCm39) |
L176H |
probably damaging |
Het |
| Stk25 |
T |
A |
1: 93,552,330 (GRCm39) |
K350M |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,355,444 (GRCm39) |
W379* |
probably null |
Het |
| Taco1 |
A |
T |
11: 105,960,437 (GRCm39) |
E126V |
probably benign |
Het |
| Tbc1d12 |
T |
A |
19: 38,905,232 (GRCm39) |
L649* |
probably null |
Het |
| Trpm3 |
G |
A |
19: 22,744,120 (GRCm39) |
G238R |
probably damaging |
Het |
| Yy1 |
C |
A |
12: 108,759,663 (GRCm39) |
Q109K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCTGAAGGTGAAGATAATGAGG -3'
(R):5'- TGGTACATTTCACACCTCTCAATGG -3'
Sequencing Primer
(F):5'- ATGAGGACTTACAGTTGTCTTCAAC -3'
(R):5'- CACCTCTCAATGGAAGAATTTACAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation