Incidental Mutation 'R3839:Cdh9'
ID |
277072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdh9
|
Ensembl Gene |
ENSMUSG00000025370 |
Gene Name |
cadherin 9 |
Synonyms |
T1-cadherin |
MMRRC Submission |
040892-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R3839 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
16728842-16857180 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 16823524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 169
(E169*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026432]
[ENSMUST00000228307]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000026432
AA Change: E169*
|
SMART Domains |
Protein: ENSMUSP00000026432 Gene: ENSMUSG00000025370 AA Change: E169*
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 null
Transcript: ENSMUST00000228307
AA Change: E169*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.8%
- 20x: 96.4%
|
Validation Efficiency |
98% (48/49) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
Abraxas2 |
T |
A |
7: 132,484,867 (GRCm39) |
S303R |
probably benign |
Het |
Ackr3 |
G |
A |
1: 90,141,850 (GRCm39) |
S103N |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
Aspm |
C |
T |
1: 139,405,792 (GRCm39) |
H1560Y |
probably benign |
Het |
Atg10 |
A |
T |
13: 91,085,499 (GRCm39) |
I150K |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
Cald1 |
A |
T |
6: 34,722,700 (GRCm39) |
D122V |
probably damaging |
Het |
Cc2d2a |
T |
C |
5: 43,876,056 (GRCm39) |
V1011A |
probably benign |
Het |
Cmbl |
T |
C |
15: 31,582,144 (GRCm39) |
V47A |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Ctnnd2 |
T |
A |
15: 31,009,174 (GRCm39) |
|
probably null |
Het |
Cyp4a10 |
A |
C |
4: 115,382,544 (GRCm39) |
E278A |
possibly damaging |
Het |
Ddx56 |
T |
C |
11: 6,217,712 (GRCm39) |
D3G |
probably benign |
Het |
Dnajb2 |
G |
A |
1: 75,218,124 (GRCm39) |
|
probably null |
Het |
Eif3d |
T |
A |
15: 77,848,300 (GRCm39) |
T211S |
probably benign |
Het |
Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
Garnl3 |
C |
T |
2: 32,879,558 (GRCm39) |
G923S |
probably benign |
Het |
Gcnt4 |
A |
T |
13: 97,083,522 (GRCm39) |
R273* |
probably null |
Het |
Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
Glra2 |
C |
T |
X: 164,072,612 (GRCm39) |
V85I |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
Gpr156 |
T |
A |
16: 37,808,962 (GRCm39) |
V228D |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hmgcr |
A |
G |
13: 96,795,597 (GRCm39) |
I324T |
probably benign |
Het |
Itga3 |
A |
G |
11: 94,948,095 (GRCm39) |
|
probably null |
Het |
Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
Klhl40 |
A |
G |
9: 121,609,482 (GRCm39) |
Y453C |
possibly damaging |
Het |
Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
Msn |
C |
A |
X: 95,203,805 (GRCm39) |
Q303K |
probably damaging |
Het |
Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
Rala |
A |
T |
13: 18,067,759 (GRCm39) |
C91S |
probably damaging |
Het |
Rps9 |
A |
G |
7: 3,709,823 (GRCm39) |
|
probably benign |
Het |
Sdr16c5 |
C |
A |
4: 4,006,601 (GRCm39) |
M230I |
probably damaging |
Het |
Sec14l3 |
A |
G |
11: 4,021,544 (GRCm39) |
|
probably null |
Het |
Senp2 |
T |
C |
16: 21,828,485 (GRCm39) |
S32P |
probably damaging |
Het |
Skor1 |
A |
C |
9: 63,051,730 (GRCm39) |
S746R |
probably damaging |
Het |
Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
Slc47a1 |
G |
T |
11: 61,243,884 (GRCm39) |
|
probably benign |
Het |
Slit3 |
A |
T |
11: 35,399,064 (GRCm39) |
N143I |
probably benign |
Het |
Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
Vmn2r109 |
A |
G |
17: 20,774,704 (GRCm39) |
V217A |
probably damaging |
Het |
Zfp108 |
A |
G |
7: 23,959,981 (GRCm39) |
I191V |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGCTGCAAAGAGACTAGAC -3'
(R):5'- CTGCCATTGGAATCAAACAACTTC -3'
Sequencing Primer
(F):5'- GAGACTAGACAGAGAAGAAAAATCTC -3'
(R):5'- CTGAGAGGGCATATGGAATC -3'
|
Posted On |
2015-04-06 |