Incidental Mutation 'R6432:Cxadr'
ID 518608
Institutional Source Beutler Lab
Gene Symbol Cxadr
Ensembl Gene ENSMUSG00000022865
Gene Name coxsackie virus and adenovirus receptor
Synonyms MCAR, 2610206D03Rik, CAR, MCVADR
MMRRC Submission 044570-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6432 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 78098377-78156662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 78122147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 49 (D49A)
Ref Sequence ENSEMBL: ENSMUSP00000155907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023572] [ENSMUST00000114229] [ENSMUST00000231356] [ENSMUST00000232148]
AlphaFold P97792
Predicted Effect probably damaging
Transcript: ENSMUST00000023572
AA Change: D49A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023572
Gene: ENSMUSG00000022865
AA Change: D49A

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 damaging
Transcript: ENSMUST00000114229
AA Change: D49A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109867
Gene: ENSMUSG00000022865
AA Change: D49A

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 damaging
Transcript: ENSMUST00000231356
AA Change: D49A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000232148
AA Change: D49A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232189
Meta Mutation Damage Score 0.5312 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 100% (42/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora3 T A 3: 105,814,991 (GRCm39) L101* probably null Het
Atf7ip2 T C 16: 10,022,534 (GRCm39) I71T probably damaging Het
Atp2c1 A G 9: 105,322,512 (GRCm39) C206R probably damaging Het
Cacna1d A G 14: 29,845,411 (GRCm39) L606P probably damaging Het
Cass4 T C 2: 172,269,639 (GRCm39) F574L probably damaging Het
Cdcp3 G A 7: 130,846,601 (GRCm39) probably null Het
Col17a1 C A 19: 47,668,847 (GRCm39) E126* probably null Het
Dact1 T C 12: 71,365,327 (GRCm39) S703P probably damaging Het
Dchs2 T A 3: 83,178,425 (GRCm39) H1159Q possibly damaging Het
Dnmt3a T A 12: 3,952,399 (GRCm39) F697I probably damaging Het
Dnpep T A 1: 75,292,022 (GRCm39) K199N probably benign Het
Ear2 G T 14: 44,340,660 (GRCm39) C106F probably damaging Het
Gnl2 A T 4: 124,946,353 (GRCm39) I525F possibly damaging Het
Hsph1 C A 5: 149,542,441 (GRCm39) K692N probably damaging Het
Itga6 T A 2: 71,664,116 (GRCm39) C489S possibly damaging Het
Kdm2b C T 5: 123,018,254 (GRCm39) C1007Y probably damaging Het
Ly6m T C 15: 74,751,813 (GRCm39) T74A probably benign Het
Mast4 T C 13: 103,042,185 (GRCm39) S22G possibly damaging Het
Ms4a12 A G 19: 11,192,376 (GRCm39) *264Q probably null Het
Myh8 G T 11: 67,189,405 (GRCm39) A1194S probably benign Het
Ncapd3 T A 9: 26,955,805 (GRCm39) N131K probably damaging Het
Or10g6 T C 9: 39,933,824 (GRCm39) I45T probably damaging Het
Or5w13 A T 2: 87,523,872 (GRCm39) M118K probably damaging Het
Rbm14 G T 19: 4,853,191 (GRCm39) probably benign Het
Rnf130 T A 11: 49,986,617 (GRCm39) C320* probably null Het
Rnf5 A G 17: 34,821,101 (GRCm39) V77A possibly damaging Het
Sh3pxd2a G T 19: 47,258,366 (GRCm39) P418T probably damaging Het
Shank3 G T 15: 89,387,616 (GRCm39) V262F possibly damaging Het
Six5 T A 7: 18,830,696 (GRCm39) V441E probably damaging Het
Tbc1d9b T A 11: 50,037,155 (GRCm39) I268N probably benign Het
Terb1 G A 8: 105,212,078 (GRCm39) T301I possibly damaging Het
Tnxb A C 17: 34,936,891 (GRCm39) D2820A probably damaging Het
Tram2 C T 1: 21,074,457 (GRCm39) E242K possibly damaging Het
Trps1 T C 15: 50,694,793 (GRCm39) K210E probably damaging Het
Tulp2 T A 7: 45,168,012 (GRCm39) D141E probably benign Het
Umodl1 C T 17: 31,205,121 (GRCm39) T572I probably benign Het
Upf2 C A 2: 5,984,588 (GRCm39) A501E unknown Het
Vmn2r102 A G 17: 19,901,483 (GRCm39) T537A possibly damaging Het
Wdr11 T A 7: 129,208,242 (GRCm39) D332E possibly damaging Het
Wdr38 A G 2: 38,890,723 (GRCm39) N199S probably damaging Het
Zfp672 T A 11: 58,207,758 (GRCm39) I188F possibly damaging 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
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
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 PCR Primer
(F):5'- TTTGCTCCCATGAATAGCCC -3'
(R):5'- AGTATCTTCCGGGTGTGTCAAC -3'

Sequencing Primer
(F):5'- CCATGAATAGCCCCGGGG -3'
(R):5'- TGTGTCAACAGCACACAGTATG -3'
Posted On 2018-05-24