Incidental Mutation 'R8073:Cxadr'
ID 620374
Institutional Source Beutler Lab
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) question?
Stock # R8073 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 78098377-78156662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78130301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 156 (N156S)
Ref Sequence ENSEMBL: ENSMUSP00000023572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023572] [ENSMUST00000114229] [ENSMUST00000231353] [ENSMUST00000231356] [ENSMUST00000232148]
AlphaFold P97792
PDB Structure Crystal structure of the extracellular domains of coxsackie & adenovirus receptor from mouse (mCAR) [X-RAY DIFFRACTION]
Crystal structure of the complex of JAML and Coxsackie and Adenovirus receptor, CAR [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000023572
AA Change: N156S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023572
Gene: ENSMUSG00000022865
AA Change: N156S

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: N156S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109867
Gene: ENSMUSG00000022865
AA Change: N156S

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 probably benign
Transcript: ENSMUST00000232148
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,337,019 (GRCm39) V533I probably benign Het
Akap3 A T 6: 126,842,736 (GRCm39) T452S probably damaging Het
Angpt1 C T 15: 42,301,699 (GRCm39) M436I probably benign Het
B3galt4 T C 17: 34,169,797 (GRCm39) K147R probably damaging Het
Birc6 C A 17: 74,910,080 (GRCm39) T1491K probably damaging Het
Boll T C 1: 55,394,881 (GRCm39) probably benign Het
C6 T C 15: 4,764,675 (GRCm39) F124L probably benign Het
Camta1 T C 4: 151,163,281 (GRCm39) Y436C probably damaging Het
Celsr1 T C 15: 85,823,356 (GRCm39) N1684S probably benign Het
Cflar T C 1: 58,791,981 (GRCm39) L428P Het
Clk4 T C 11: 51,168,716 (GRCm39) I363T probably benign Het
Cnst A G 1: 179,434,002 (GRCm39) T273A probably benign Het
Col5a1 C T 2: 27,852,141 (GRCm39) A546V possibly damaging Het
Col6a6 T A 9: 105,659,146 (GRCm39) N600Y probably benign Het
Diaph1 C T 18: 38,024,850 (GRCm39) G537E unknown Het
Dmxl1 T A 18: 50,011,500 (GRCm39) V1219D probably damaging Het
Dnajb12 T A 10: 59,726,001 (GRCm39) Y95* probably null Het
Dnajc5g A G 5: 31,269,029 (GRCm39) T137A probably benign Het
Dpy19l3 G A 7: 35,429,173 (GRCm39) T89M probably damaging Het
Dusp19 C A 2: 80,447,828 (GRCm39) T34N probably benign Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Enpp1 A G 10: 24,555,142 (GRCm39) V68A possibly damaging Het
Epha7 T A 4: 28,821,022 (GRCm39) D62E probably damaging Het
Frmd4b A T 6: 97,283,674 (GRCm39) V445E probably benign Het
Gp9 A C 6: 87,756,336 (GRCm39) D117A probably benign Het
Haao T C 17: 84,142,649 (GRCm39) E152G possibly damaging Het
Ift70a2 A G 2: 75,806,997 (GRCm39) V505A probably damaging Het
Ighd A G 12: 113,379,789 (GRCm39) S52P probably benign Het
Ikzf3 T C 11: 98,358,255 (GRCm39) K361E probably benign Het
Lgi2 T A 5: 52,704,013 (GRCm39) E206V probably benign Het
Mfsd11 T A 11: 116,754,749 (GRCm39) V220E probably benign Het
Moxd1 G T 10: 24,128,848 (GRCm39) G200C probably damaging Het
Mthfd1l C A 10: 3,923,417 (GRCm39) Q55K probably benign Het
Nlrp9a T A 7: 26,260,260 (GRCm39) L672M probably damaging Het
Npvf A C 6: 50,631,349 (GRCm39) F9V probably damaging Het
Nup205 G T 6: 35,179,104 (GRCm39) probably null Het
Nup43 T C 10: 7,546,713 (GRCm39) V111A probably benign Het
Obscn C T 11: 59,026,516 (GRCm39) R229H probably benign Het
Olfml2a C A 2: 38,847,766 (GRCm39) R442S probably damaging Het
Or10j2 A G 1: 173,098,552 (GRCm39) D270G probably benign Het
Or2ag16 C A 7: 106,352,008 (GRCm39) E196* probably null Het
Or4c120 T A 2: 89,001,284 (GRCm39) I91F probably damaging Het
Or5b12b T A 19: 12,861,980 (GRCm39) V245E probably benign Het
Or9s13 T A 1: 92,547,806 (GRCm39) D59E probably damaging Het
Pcdhga7 T C 18: 37,848,398 (GRCm39) F135S probably damaging Het
Pde4a A T 9: 21,122,065 (GRCm39) I654F probably damaging Het
Pip5kl1 G A 2: 32,473,440 (GRCm39) R359Q possibly damaging Het
Ppp2ca T C 11: 52,010,124 (GRCm39) V244A possibly damaging Het
Qrich1 T A 9: 108,411,627 (GRCm39) L384H possibly damaging Het
Rab4a T C 8: 124,554,135 (GRCm39) V62A possibly damaging Het
Ranbp10 A G 8: 106,513,261 (GRCm39) L217P probably damaging Het
Rhebl1 C T 15: 98,776,405 (GRCm39) A131T probably benign Het
Rnf150 A T 8: 83,590,546 (GRCm39) probably benign Het
Slc32a1 G A 2: 158,456,685 (GRCm39) A447T probably damaging Het
Spag5 T A 11: 78,192,803 (GRCm39) M45K probably benign Het
Spata13 A G 14: 60,928,705 (GRCm39) N88D probably damaging Het
Spred2 C A 11: 19,958,422 (GRCm39) T128N probably benign Het
Tenm2 T C 11: 36,030,471 (GRCm39) E776G possibly damaging Het
Tet1 C G 10: 62,649,132 (GRCm39) E156Q probably damaging Het
Tmc1 T C 19: 20,845,725 (GRCm39) N166S probably benign Het
Trim43a C A 9: 88,464,490 (GRCm39) Q134K possibly damaging Het
Tsks A T 7: 44,607,305 (GRCm39) M543L probably benign Het
Ttn T C 2: 76,574,181 (GRCm39) K25571E probably damaging Het
Vamp5 C A 6: 72,357,436 (GRCm39) probably benign Het
Vmn2r79 A T 7: 86,651,462 (GRCm39) Q287L probably benign Het
Zfp326 T A 5: 106,062,682 (GRCm39) V517E unknown Het
Zfp467 A T 6: 48,414,959 (GRCm39) H564Q probably damaging Het
Zfp51 G A 17: 21,684,294 (GRCm39) C303Y probably 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
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
Predicted Primers PCR Primer
(F):5'- GCTGGTTTGACAACATATCATTCC -3'
(R):5'- CCGCTGGGTTGAAATCTCAATC -3'

Sequencing Primer
(F):5'- CCCATACTGGCTGATGAAGG -3'
(R):5'- GGTTGAAATCTCAATCAAGGACAC -3'
Posted On 2020-01-23