Incidental Mutation 'R1142:Cxadr'
ID 102180
Institutional Source Beutler Lab
Gene Symbol Cxadr
Ensembl Gene ENSMUSG00000022865
Gene Name coxsackie virus and adenovirus receptor
Synonyms MCAR, 2610206D03Rik, CAR, MCVADR
MMRRC Submission 039215-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1142 (G1)
Quality Score 194
Status Not validated
Chromosome 16
Chromosomal Location 78098377-78156662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78131727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 238 (T238A)
Ref Sequence ENSEMBL: ENSMUSP00000109867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023572] [ENSMUST00000114229] [ENSMUST00000231353] [ENSMUST00000231356]
AlphaFold P97792
Predicted Effect probably benign
Transcript: ENSMUST00000023572
AA Change: T238A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000023572
Gene: ENSMUSG00000022865
AA Change: T238A

DomainStartEndE-ValueType
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: ENSMUST00000114229
AA Change: T238A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109867
Gene: ENSMUSG00000022865
AA Change: T238A

DomainStartEndE-ValueType
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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 A G 19: 40,539,657 (GRCm39) S773P probably damaging Het
Alx3 T C 3: 107,507,980 (GRCm39) F163S possibly damaging Het
Apobr A G 7: 126,186,654 (GRCm39) M722V probably benign Het
Col6a5 A G 9: 105,811,516 (GRCm39) S668P unknown Het
Dph6 A G 2: 114,478,260 (GRCm39) I27T probably damaging Het
Ephx3 G A 17: 32,404,248 (GRCm39) H324Y probably benign Het
F830045P16Rik T A 2: 129,302,252 (GRCm39) K447* probably null Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Hsp90ab1 C A 17: 45,879,900 (GRCm39) E539* probably null Het
Jmjd1c T C 10: 67,061,124 (GRCm39) L1159P probably damaging Het
Lamc3 T C 2: 31,830,733 (GRCm39) I1490T probably damaging Het
Met T A 6: 17,527,182 (GRCm39) C544* probably null Het
Pdlim3 C A 8: 46,371,998 (GRCm39) R348S probably damaging Het
Phkg1 A G 5: 129,902,073 (GRCm39) F101L possibly damaging Het
Polq A G 16: 36,833,579 (GRCm39) M91V probably damaging Het
Slc38a9 T C 13: 112,850,744 (GRCm39) I376T probably damaging Het
Tnc C T 4: 63,932,231 (GRCm39) V728M probably damaging Het
Vmn1r85 T C 7: 12,818,481 (GRCm39) N221S probably benign Het
Vmn2r91 T A 17: 18,356,705 (GRCm39) W791R probably damaging Het
Zc3h13 T C 14: 75,553,424 (GRCm39) Y284H probably benign Het
Other mutations in Cxadr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Cxadr APN 16 78,131,115 (GRCm39) nonsense probably null
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
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
Predicted Primers
Posted On 2014-01-15