Incidental Mutation 'R4130:Bcar1'
ID 315508
Institutional Source Beutler Lab
Gene Symbol Bcar1
Ensembl Gene ENSMUSG00000031955
Gene Name breast cancer anti-estrogen resistance 1
Synonyms Cas, p130Cas, Crkas
MMRRC Submission 041636-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4130 (G1)
Quality Score 204
Status Validated
Chromosome 8
Chromosomal Location 112437106-112470441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112440797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 399 (L399P)
Ref Sequence ENSEMBL: ENSMUSP00000148364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166232] [ENSMUST00000212349]
AlphaFold Q61140
Predicted Effect possibly damaging
Transcript: ENSMUST00000166232
AA Change: L399P

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129584
Gene: ENSMUSG00000031955
AA Change: L399P

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000212349
AA Change: L399P

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.0878 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (29/29)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021A07Rik T C 10: 21,301,441 (GRCm39) noncoding transcript Het
A4gnt A G 9: 99,502,671 (GRCm39) D277G possibly damaging Het
Adam12 C T 7: 133,514,653 (GRCm39) V345I probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arpp21 T A 9: 111,984,376 (GRCm39) probably benign Het
Bbx T C 16: 50,045,221 (GRCm39) K447E probably damaging Het
Cytl1 T C 5: 37,892,985 (GRCm39) S32P probably damaging Het
Eif4e1b C T 13: 54,935,130 (GRCm39) T219M probably benign Het
F10 A G 8: 13,105,584 (GRCm39) D383G possibly damaging Het
Gm37267 T G 1: 180,336,643 (GRCm39) noncoding transcript Het
Golga2 G A 2: 32,178,178 (GRCm39) R29H probably benign Het
Gpd1 A T 15: 99,617,158 (GRCm39) probably null Het
Lrrk2 G A 15: 91,639,997 (GRCm39) R1514Q probably benign Het
Map1b T C 13: 99,568,188 (GRCm39) E1511G unknown Het
Nup35 G A 2: 80,486,443 (GRCm39) probably benign Het
Or13n4 C T 7: 106,422,792 (GRCm39) G314S probably benign Het
Pdzd9 A T 7: 120,262,092 (GRCm39) D123E possibly damaging Het
Pramel29 T A 4: 143,935,379 (GRCm39) I121F probably damaging Het
Rab3gap2 A G 1: 184,936,494 (GRCm39) D19G possibly damaging Het
Rnf213 T C 11: 119,373,832 (GRCm39) S4972P probably damaging Het
Skap1 A G 11: 96,416,871 (GRCm39) Y52C probably damaging Het
Sphkap T C 1: 83,255,619 (GRCm39) N710S probably damaging Het
Tedc1 T A 12: 113,126,828 (GRCm39) D363E probably benign Het
Vmn2r44 T A 7: 8,370,918 (GRCm39) Q709H probably damaging Het
Wdr5 G T 2: 27,410,441 (GRCm39) probably benign 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
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
R8373:Bcar1 UTSW 8 112,442,370 (GRCm39) nonsense probably null
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
(F):5'- AAGCTTGGCATGCAAGGTG -3'
(R):5'- AAGCCCAAGCCCTTTGATCC -3'

Sequencing Primer
(F):5'- GTGGCATTGCTCACAGCTC -3'
(R):5'- AAGCCCTTTGATCCCACCCG -3'
Posted On 2015-05-14