Incidental Mutation 'R8373:Bcar1'
ID 646543
Institutional Source Beutler Lab
Gene Symbol Bcar1
Ensembl Gene ENSMUSG00000031955
Gene Name breast cancer anti-estrogen resistance 1
Synonyms Cas, p130Cas, Crkas
MMRRC Submission 067741-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8373 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 112437106-112470441 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 112442370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 228 (Y228*)
Ref Sequence ENSEMBL: ENSMUSP00000129584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166232] [ENSMUST00000212349]
AlphaFold Q61140
Predicted Effect probably null
Transcript: ENSMUST00000166232
AA Change: Y228*
SMART Domains Protein: ENSMUSP00000129584
Gene: ENSMUSG00000031955
AA Change: Y228*

SH3 6 64 3e-20 SMART
low complexity region 71 92 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 353 388 N/A INTRINSIC
low complexity region 430 448 N/A INTRINSIC
Pfam:Serine_rich 458 612 9e-49 PFAM
Pfam:DUF3513 658 868 2.1e-78 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000212349
AA Change: Y228*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BCAR1, or CAS, is an Src (MIM 190090) family kinase substrate involved in various cellular events, including migration, survival, transformation, and invasion (Sawada et al., 2006 [PubMed 17129785]).[supplied by OMIM, May 2009]
PHENOTYPE: Homozygous null embryos exhibit growth retardation and embryonic lethality, following disruption of cardiac myofibrils, increased vasodilation, and systemic congestion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T C 10: 14,343,078 (GRCm39) T290A probably benign Het
Aff4 C T 11: 53,291,094 (GRCm39) Q685* probably null Het
Ankmy1 A G 1: 92,823,816 (GRCm39) M150T probably damaging Het
Armc1 T C 3: 19,203,731 (GRCm39) Y65C probably damaging Het
Armc8 A G 9: 99,409,152 (GRCm39) V222A probably benign Het
Cct2 T C 10: 116,896,729 (GRCm39) D158G possibly damaging Het
Cul1 T A 6: 47,491,997 (GRCm39) C426S possibly damaging Het
Deup1 G T 9: 15,503,671 (GRCm39) L297M possibly damaging Het
Dpp10 A G 1: 123,781,958 (GRCm39) S74P possibly damaging Het
Epha4 A G 1: 77,483,716 (GRCm39) Y98H possibly damaging Het
Epn3 T G 11: 94,383,762 (GRCm39) D296A probably damaging Het
Eri2 A C 7: 119,371,820 (GRCm39) I252S probably benign Het
Gp9 C T 6: 87,755,994 (GRCm39) T3I probably benign Het
H2-Q5 T A 17: 35,613,432 (GRCm39) V55E Het
Kif3c G T 12: 3,416,089 (GRCm39) V37L probably benign Het
Lct A T 1: 128,231,577 (GRCm39) N757K probably damaging Het
Lhx8 A C 3: 154,030,295 (GRCm39) N112K probably damaging Het
Loxl3 T A 6: 83,025,872 (GRCm39) S373R possibly damaging Het
Mettl4 G A 17: 95,041,077 (GRCm39) T359I probably damaging Het
Mpp7 A G 18: 7,444,096 (GRCm39) S109P probably damaging Het
Nckap5 A G 1: 125,954,032 (GRCm39) V840A probably benign Het
Ncoa4 T A 14: 31,898,893 (GRCm39) L571Q probably damaging Het
Or13a18 A T 7: 140,190,208 (GRCm39) Y35F possibly damaging Het
Or2f1 T C 6: 42,721,280 (GRCm39) F103S probably damaging Het
Phgdh G A 3: 98,228,561 (GRCm39) T204I probably damaging Het
Pla2g4d C T 2: 120,107,980 (GRCm39) V310M probably null Het
Prss3b T G 6: 41,008,622 (GRCm39) T231P possibly damaging Het
Psmd12 C T 11: 107,388,450 (GRCm39) P421L probably damaging Het
Ptch1 A G 13: 63,688,982 (GRCm39) Y432H probably damaging Het
Rapgef1 G A 2: 29,600,243 (GRCm39) G655S probably damaging Het
Rilpl2 C A 5: 124,616,097 (GRCm39) A18S probably damaging Het
Srsf7 T C 17: 80,512,815 (GRCm39) R88G probably benign Het
St6galnac1 T C 11: 116,660,059 (GRCm39) K85E possibly damaging Het
Trip12 A T 1: 84,773,488 (GRCm39) S49R probably damaging Het
Vinac1 T A 2: 128,880,091 (GRCm39) I612F Het
Wdr48 A G 9: 119,734,560 (GRCm39) T160A probably damaging Het
Zfp704 G A 3: 9,674,502 (GRCm39) T93M unknown Het
Other mutations in Bcar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Bcar1 APN 8 112,437,839 (GRCm39) missense possibly damaging 0.82
IGL02852:Bcar1 APN 8 112,441,979 (GRCm39) nonsense probably null
R1914:Bcar1 UTSW 8 112,442,030 (GRCm39) missense probably damaging 0.98
R1915:Bcar1 UTSW 8 112,442,030 (GRCm39) missense probably damaging 0.98
R4130:Bcar1 UTSW 8 112,440,797 (GRCm39) missense possibly damaging 0.47
R4249:Bcar1 UTSW 8 112,447,525 (GRCm39) missense probably benign
R4437:Bcar1 UTSW 8 112,442,021 (GRCm39) missense probably damaging 1.00
R4794:Bcar1 UTSW 8 112,447,552 (GRCm39) nonsense probably null
R4937:Bcar1 UTSW 8 112,447,669 (GRCm39) missense probably damaging 0.98
R5402:Bcar1 UTSW 8 112,440,962 (GRCm39) missense probably damaging 1.00
R5951:Bcar1 UTSW 8 112,440,032 (GRCm39) missense probably benign 0.02
R6443:Bcar1 UTSW 8 112,441,970 (GRCm39) missense probably damaging 1.00
R7595:Bcar1 UTSW 8 112,447,625 (GRCm39) missense probably benign 0.01
R8313:Bcar1 UTSW 8 112,440,270 (GRCm39) missense probably benign 0.01
R9037:Bcar1 UTSW 8 112,447,522 (GRCm39) missense probably benign 0.10
R9205:Bcar1 UTSW 8 112,442,341 (GRCm39) missense probably damaging 1.00
R9602:Bcar1 UTSW 8 112,440,498 (GRCm39) missense probably benign 0.22
RF025:Bcar1 UTSW 8 112,440,809 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-09-02