Incidental Mutation 'IGL00793:Cxadr'
| ID |
12562 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cxadr
|
| Ensembl Gene |
ENSMUSG00000022865 |
| Gene Name |
coxsackie virus and adenovirus receptor |
| Synonyms |
MCAR, 2610206D03Rik, CAR, MCVADR |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
78098377-78156662 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 78131115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 210
(Y210*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023572]
[ENSMUST00000114229]
[ENSMUST00000231353]
[ENSMUST00000231356]
|
| AlphaFold |
P97792 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023572
AA Change: Y210*
|
| SMART Domains |
Protein: ENSMUSP00000023572
Gene: ENSMUSG00000022865
AA Change: Y210*
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
138 |
1.99e-7 |
SMART |
|
IGc2
|
153 |
219 |
7.7e-5 |
SMART |
|
low complexity region
|
262 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114229
AA Change: Y210*
|
| SMART Domains |
Protein: ENSMUSP00000109867
Gene: ENSMUSG00000022865
AA Change: Y210*
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
138 |
1.99e-7 |
SMART |
|
IGc2
|
153 |
219 |
7.7e-5 |
SMART |
|
low complexity region
|
262 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231251
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231353
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232189
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein that is part of the Cortical Thymocyte marker in Xenopus (CTX) subfamily within the immunoglobulin superfamily. Members of this subfamily, predominantly expressed on the surface of endothelial and epithelial cells, help establish cell polarity and provide a barrier function, regulating migration of immune cells. This protein, first identified as the receptor for adenovirus subgroup C and coxsakieviruses group B, is developmentally regulated and plays an important role in cardiac development. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous null mice display embryonic lethality with focal cardiomyocyte apoptosis and extensive thoracic hemorrhaging. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,605 (GRCm39) |
D236G |
probably damaging |
Het |
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,327,846 (GRCm39) |
|
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,788 (GRCm39) |
Y52C |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,302,817 (GRCm39) |
T1097A |
probably damaging |
Het |
| Ccne1 |
A |
C |
7: 37,805,726 (GRCm39) |
V50G |
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,467,057 (GRCm39) |
T636A |
probably benign |
Het |
| Dnajc17 |
T |
C |
2: 119,011,441 (GRCm39) |
E163G |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,514,422 (GRCm39) |
M405K |
possibly damaging |
Het |
| Enpp7 |
A |
T |
11: 118,881,371 (GRCm39) |
N172I |
probably damaging |
Het |
| G2e3 |
T |
A |
12: 51,414,545 (GRCm39) |
S340T |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,972,852 (GRCm39) |
N722S |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,161,120 (GRCm39) |
V263F |
probably damaging |
Het |
| Ldlrad1 |
A |
G |
4: 107,075,086 (GRCm39) |
D211G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,378,074 (GRCm39) |
V4082A |
possibly damaging |
Het |
| Maco1 |
A |
G |
4: 134,555,517 (GRCm39) |
S319P |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,364,189 (GRCm39) |
V4370D |
possibly damaging |
Het |
| Npsr1 |
G |
T |
9: 24,165,989 (GRCm39) |
R125L |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,944,628 (GRCm39) |
I116V |
probably damaging |
Het |
| Parp4 |
G |
T |
14: 56,840,334 (GRCm39) |
A580S |
possibly damaging |
Het |
| Pfkm |
T |
C |
15: 98,023,475 (GRCm39) |
V391A |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,769,792 (GRCm39) |
S170T |
probably damaging |
Het |
| Rsbn1l |
C |
T |
5: 21,101,153 (GRCm39) |
V796I |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,590,494 (GRCm39) |
I396V |
probably benign |
Het |
| Spag16 |
T |
C |
1: 70,338,809 (GRCm39) |
C436R |
probably damaging |
Het |
| Stpg1 |
A |
G |
4: 135,233,718 (GRCm39) |
|
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,631,756 (GRCm39) |
|
probably benign |
Het |
| Trf |
A |
G |
9: 103,103,342 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,743 (GRCm39) |
Y173N |
possibly damaging |
Het |
| Wrap73 |
T |
C |
4: 154,237,096 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,252,779 (GRCm39) |
V1364A |
probably benign |
Het |
|
| Other mutations in Cxadr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0309:Cxadr
|
UTSW |
16 |
78,131,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1129:Cxadr
|
UTSW |
16 |
78,133,321 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1142:Cxadr
|
UTSW |
16 |
78,131,727 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1713:Cxadr
|
UTSW |
16 |
78,131,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6432:Cxadr
|
UTSW |
16 |
78,122,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6637:Cxadr
|
UTSW |
16 |
78,130,391 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7597:Cxadr
|
UTSW |
16 |
78,125,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7735:Cxadr
|
UTSW |
16 |
78,125,949 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7809:Cxadr
|
UTSW |
16 |
78,130,407 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7952:Cxadr
|
UTSW |
16 |
78,131,123 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8073:Cxadr
|
UTSW |
16 |
78,130,301 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation