Incidental Mutation 'R6440:Cdh9'
| ID |
518992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh9
|
| Ensembl Gene |
ENSMUSG00000025370 |
| Gene Name |
cadherin 9 |
| Synonyms |
T1-cadherin |
| MMRRC Submission |
044578-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R6440 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
16728842-16857180 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16823509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 164
(T164S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026432]
[ENSMUST00000228307]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026432
AA Change: T164S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: T164S
| 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 benign
Transcript: ENSMUST00000228307
AA Change: T164S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Meta Mutation Damage Score |
0.0600 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.7%
|
| Validation Efficiency |
100% (40/40) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,101,744 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
C |
T |
5: 81,942,341 (GRCm39) |
Q684* |
probably null |
Het |
| Ahi1 |
T |
A |
10: 20,835,981 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,133,631 (GRCm39) |
T1070A |
probably damaging |
Het |
| B3gnt9 |
C |
T |
8: 105,980,531 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
G |
T |
6: 122,827,467 (GRCm39) |
A250E |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,771,143 (GRCm39) |
F284L |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,710,566 (GRCm39) |
I90T |
probably benign |
Het |
| Ces2a |
C |
T |
8: 105,467,954 (GRCm39) |
A528V |
probably benign |
Het |
| Cyp2c70 |
T |
C |
19: 40,145,250 (GRCm39) |
N402S |
possibly damaging |
Het |
| F3 |
A |
G |
3: 121,518,686 (GRCm39) |
E50G |
probably damaging |
Het |
| Fli1 |
A |
T |
9: 32,335,197 (GRCm39) |
S412T |
probably benign |
Het |
| Flt1 |
T |
A |
5: 147,501,115 (GRCm39) |
D1306V |
possibly damaging |
Het |
| Ggt7 |
T |
C |
2: 155,340,731 (GRCm39) |
D424G |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,230,981 (GRCm39) |
N468I |
probably damaging |
Het |
| Htr5a |
T |
A |
5: 28,055,870 (GRCm39) |
V287E |
probably damaging |
Het |
| Map3k21 |
T |
C |
8: 126,637,876 (GRCm39) |
V154A |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,552,655 (GRCm39) |
V4546A |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,147,516 (GRCm39) |
Y121C |
probably damaging |
Het |
| Nckap1l |
C |
A |
15: 103,379,659 (GRCm39) |
Y315* |
probably null |
Het |
| Ntpcr |
T |
A |
8: 126,471,981 (GRCm39) |
S64T |
probably damaging |
Het |
| Or1e1c |
A |
T |
11: 73,266,173 (GRCm39) |
E202D |
probably benign |
Het |
| Or6c215 |
A |
G |
10: 129,637,837 (GRCm39) |
S186P |
probably damaging |
Het |
| Or7e175 |
T |
C |
9: 20,048,490 (GRCm39) |
F26S |
probably damaging |
Het |
| Pate9 |
T |
A |
9: 36,453,168 (GRCm39) |
M1L |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,674,902 (GRCm39) |
C5R |
probably damaging |
Het |
| Pgap2 |
T |
A |
7: 101,886,594 (GRCm39) |
|
probably null |
Het |
| Pik3r6 |
T |
C |
11: 68,424,522 (GRCm39) |
W376R |
probably benign |
Het |
| Plekha2 |
T |
C |
8: 25,578,413 (GRCm39) |
Y29C |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,234,180 (GRCm39) |
K779E |
probably damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,330 (GRCm39) |
V98A |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,713,010 (GRCm39) |
D1287N |
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,426,997 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
A |
T |
1: 45,964,422 (GRCm39) |
M1K |
probably null |
Het |
| Smo |
A |
G |
6: 29,756,813 (GRCm39) |
H437R |
possibly damaging |
Het |
| Sult3a1 |
T |
C |
10: 33,746,198 (GRCm39) |
Y173H |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,116,555 (GRCm39) |
R898S |
possibly damaging |
Het |
| Synpo2l |
A |
G |
14: 20,718,244 (GRCm39) |
V7A |
probably damaging |
Het |
| Thsd1 |
C |
T |
8: 22,748,569 (GRCm39) |
A427V |
possibly damaging |
Het |
| Tnfrsf17 |
G |
A |
16: 11,137,754 (GRCm39) |
G164S |
probably benign |
Het |
| Zfp235 |
A |
G |
7: 23,840,040 (GRCm39) |
K153R |
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 |
|
R5894:Cdh9
|
UTSW |
15 |
16,832,186 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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'- GAGATATTCACGCTGCAAAGAGAC -3'
(R):5'- GCCATTGGAATCAAACAACTTCTC -3'
Sequencing Primer
(F):5'- TATTCACGCTGCAAAGAGACTAGAC -3'
(R):5'- ATGGAATCACATGGCTGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation