Incidental Mutation 'R6637:Cxadr'
ID 525560
Institutional Source Beutler Lab
Gene Symbol Cxadr
Ensembl Gene ENSMUSG00000022865
Gene Name coxsackie virus and adenovirus receptor
Synonyms MCAR, 2610206D03Rik, CAR, MCVADR
MMRRC Submission 044758-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6637 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 78098377-78156662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78130391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 186 (T186M)
Ref Sequence ENSEMBL: ENSMUSP00000109867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023572] [ENSMUST00000114229] [ENSMUST00000231353] [ENSMUST00000231356] [ENSMUST00000232148]
AlphaFold P97792
Predicted Effect possibly damaging
Transcript: ENSMUST00000023572
AA Change: T186M

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023572
Gene: ENSMUSG00000022865
AA Change: T186M

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 possibly damaging
Transcript: ENSMUST00000114229
AA Change: T186M

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109867
Gene: ENSMUSG00000022865
AA Change: T186M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232189
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 92.1%
Validation Efficiency 100% (34/34)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 G A 3: 151,223,410 (GRCm39) W621* probably null Het
Adh1 T A 3: 137,988,231 (GRCm39) C98* probably null Het
Alms1 A G 6: 85,596,716 (GRCm39) H514R possibly damaging Het
Ap4m1 A G 5: 138,170,437 (GRCm39) probably benign Het
Atp6v1b2 T C 8: 69,554,026 (GRCm39) Y68H probably damaging Het
Cdh3 G C 8: 107,237,973 (GRCm39) V56L probably benign Het
Col3a1 C T 1: 45,386,890 (GRCm39) T234I probably damaging Het
Dmgdh A T 13: 93,845,706 (GRCm39) E453D probably benign Het
Fbxo16 A G 14: 65,533,210 (GRCm39) probably null Het
Fign A G 2: 63,858,252 (GRCm39) probably benign Het
Hfe C G 13: 23,890,778 (GRCm39) E120D possibly damaging Het
Hfe T C 13: 23,890,779 (GRCm39) E120G possibly damaging Het
Invs G A 4: 48,416,203 (GRCm39) probably null Het
Kcnb1 T C 2: 166,947,774 (GRCm39) D358G probably damaging Het
Kcnk5 A C 14: 20,194,789 (GRCm39) M183R probably null Het
Lamp3 A G 16: 19,519,983 (GRCm39) F67L probably benign Het
Lrrc8b A C 5: 105,628,137 (GRCm39) D161A possibly damaging Het
Lrriq1 A T 10: 103,057,293 (GRCm39) F169Y probably benign Het
Lsamp T A 16: 41,353,743 (GRCm39) V2D possibly damaging Het
Ltbp2 T C 12: 84,922,612 (GRCm39) I132V probably benign Het
Muc4 C T 16: 32,575,255 (GRCm39) P1280L probably benign Het
Muc5ac T C 7: 141,372,342 (GRCm39) Y2659H possibly damaging Het
Or2g7 G A 17: 38,378,115 (GRCm39) D18N probably damaging Het
Or4a27 T C 2: 88,559,185 (GRCm39) I253V probably benign Het
Or5b113 T C 19: 13,342,589 (GRCm39) V199A probably benign Het
Or5t15 T G 2: 86,681,784 (GRCm39) K86T probably benign Het
Spa17 A T 9: 37,523,270 (GRCm39) S6T probably benign Het
Ston2 G C 12: 91,680,886 (GRCm39) T126S probably damaging Het
Tal1 A G 4: 114,925,789 (GRCm39) N286S probably damaging Het
Tbr1 A G 2: 61,641,974 (GRCm39) D150G probably benign Het
Tgm7 T A 2: 120,931,571 (GRCm39) R197S probably damaging Het
Topaz1 A T 9: 122,578,851 (GRCm39) Q587L probably benign Het
Ubxn4 C A 1: 128,204,824 (GRCm39) Q505K probably damaging Het
Vcl A G 14: 21,053,200 (GRCm39) E405G probably damaging Het
Vmn2r26 A T 6: 124,038,650 (GRCm39) I742F 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
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'- AGACAAGTCCCGTTCGTTCC -3'
(R):5'- ACCGTGCACAGTTCTCAAC -3'

Sequencing Primer
(F):5'- CCGTTCGTTCCCTTGGATAAAG -3'
(R):5'- AATAGTTCTTCTTTGAGGACACTTGG -3'
Posted On 2018-06-22