Incidental Mutation 'R8165:Bcar3'
ID 633707
Institutional Source Beutler Lab
Gene Symbol Bcar3
Ensembl Gene ENSMUSG00000028121
Gene Name breast cancer anti-estrogen resistance 3
Synonyms AND-34
MMRRC Submission 067591-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R8165 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 122213406-122323840 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 122304805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029766] [ENSMUST00000197073] [ENSMUST00000198659] [ENSMUST00000199344] [ENSMUST00000199358]
AlphaFold Q9QZK2
Predicted Effect probably benign
Transcript: ENSMUST00000029766
SMART Domains Protein: ENSMUSP00000029766
Gene: ENSMUSG00000028121

DomainStartEndE-ValueType
low complexity region 126 145 N/A INTRINSIC
SH2 146 234 3.17e-21 SMART
low complexity region 395 406 N/A INTRINSIC
RasGEF 539 814 2.55e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197073
SMART Domains Protein: ENSMUSP00000142469
Gene: ENSMUSG00000028121

DomainStartEndE-ValueType
low complexity region 41 60 N/A INTRINSIC
SH2 61 149 2e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198659
SMART Domains Protein: ENSMUSP00000143112
Gene: ENSMUSG00000028121

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
PDB:3T6A|D 149 186 4e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000199344
SMART Domains Protein: ENSMUSP00000143711
Gene: ENSMUSG00000028121

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
PDB:3T6A|D 149 261 3e-61 PDB
SCOP:d1bkds_ 168 260 1e-7 SMART
Blast:RasGEF 190 261 2e-42 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000199358
SMART Domains Protein: ENSMUSP00000142340
Gene: ENSMUSG00000028121

DomainStartEndE-ValueType
low complexity region 6 25 N/A INTRINSIC
SH2 26 114 2e-23 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cataracts due to rupture of the lens capsule and liquefaction of lens cortical fibers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,289 (GRCm39) probably null Het
Amph A G 13: 19,279,007 (GRCm39) K161E probably benign Het
Aox1 A T 1: 58,348,088 (GRCm39) H602L probably benign Het
Areg A G 5: 91,291,492 (GRCm39) N145S probably damaging Het
Arhgap29 C T 3: 121,782,222 (GRCm39) T142I probably damaging Het
Brpf3 C T 17: 29,025,248 (GRCm39) A107V probably benign Het
Btnl2 T A 17: 34,587,682 (GRCm39) S509T possibly damaging Het
Cacna2d2 A G 9: 107,402,653 (GRCm39) probably null Het
Casz1 C T 4: 149,028,888 (GRCm39) P1111L probably damaging Het
Ccdc91 C T 6: 147,533,086 (GRCm39) T411I unknown Het
Chd9 A C 8: 91,767,769 (GRCm39) E2422A probably damaging Het
Clrn3 T C 7: 135,130,133 (GRCm39) I34V probably benign Het
Cnksr3 C T 10: 7,104,467 (GRCm39) D79N probably damaging Het
Cops8 A G 1: 90,539,729 (GRCm39) probably null Het
Cpa2 A G 6: 30,564,345 (GRCm39) K392R probably benign Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Dnase1l3 T C 14: 7,994,299 (GRCm38) probably benign Het
Gdpd5 A T 7: 99,105,689 (GRCm39) T502S probably benign Het
Gp2 A T 7: 119,049,375 (GRCm39) D387E probably damaging Het
Gpr179 A G 11: 97,242,364 (GRCm39) L160P probably benign Het
Hmcn1 G A 1: 150,522,409 (GRCm39) T3497M probably benign Het
Idh3b T A 2: 130,122,420 (GRCm39) T322S possibly damaging Het
Kit A T 5: 75,781,540 (GRCm39) N323I possibly damaging Het
Kng2 T C 16: 22,806,246 (GRCm39) S445G unknown Het
Lin54 A G 5: 100,602,358 (GRCm39) V393A probably benign Het
Lyst T A 13: 13,872,945 (GRCm39) W2715R probably damaging Het
Mad1l1 T C 5: 140,300,813 (GRCm39) T28A probably benign Het
Med7 T A 11: 46,332,073 (GRCm39) C223S probably benign Het
Megf8 T A 7: 25,053,298 (GRCm39) L1823Q probably damaging Het
Mga C A 2: 119,777,719 (GRCm39) Q1755K probably benign Het
Mgat4b A T 11: 50,101,801 (GRCm39) N22I probably benign Het
Ndufb6 C T 4: 40,270,665 (GRCm39) probably null Het
Neil3 A G 8: 54,042,129 (GRCm39) L490P probably benign Het
Nek9 C T 12: 85,350,417 (GRCm39) V886I probably benign Het
Nol4l A T 2: 153,262,473 (GRCm39) Y366* probably null Het
Nt5dc2 A G 14: 30,860,886 (GRCm39) T354A probably damaging Het
Or1j11 T A 2: 36,311,715 (GRCm39) Y102N probably damaging Het
Pde2a G A 7: 101,149,655 (GRCm39) probably null Het
Phf1 T C 17: 27,156,044 (GRCm39) F444L possibly damaging Het
Plin4 G A 17: 56,414,019 (GRCm39) T202I possibly damaging Het
Plk4 G C 3: 40,768,009 (GRCm39) V851L probably damaging Het
Pp2d1 A G 17: 53,822,257 (GRCm39) S270P probably damaging Het
Ripor1 C A 8: 106,347,520 (GRCm39) L1028M unknown Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Sel1l2 T A 2: 140,104,626 (GRCm39) L306F probably damaging Het
Spic A T 10: 88,513,428 (GRCm39) S86T probably damaging Het
Spmip10 T A 18: 56,722,547 (GRCm39) probably benign Het
Stkld1 A G 2: 26,836,668 (GRCm39) N278S probably benign Het
Taar7d T A 10: 23,903,495 (GRCm39) F126I probably benign Het
Tbc1d31 A G 15: 57,824,345 (GRCm39) E869G possibly damaging Het
Tbcd C T 11: 121,384,711 (GRCm39) T315M probably benign Het
Terf2 T C 8: 107,809,656 (GRCm39) K221E possibly damaging Het
Thsd7a T A 6: 12,468,962 (GRCm39) T539S Het
Tll2 A G 19: 41,077,313 (GRCm39) F818L possibly damaging Het
Tmem87a T C 2: 120,200,959 (GRCm39) T427A possibly damaging Het
Ush2a C A 1: 188,183,952 (GRCm39) Q1419K possibly damaging Het
Vill T A 9: 118,895,821 (GRCm39) F511Y probably damaging Het
Virma T A 4: 11,542,128 (GRCm39) D1521E probably benign Het
Vps13c A G 9: 67,766,072 (GRCm39) D63G probably benign Het
Vrk2 A G 11: 26,485,575 (GRCm39) F138L probably benign Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zgrf1 T A 3: 127,357,032 (GRCm39) F753I possibly damaging Het
Other mutations in Bcar3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Bcar3 APN 3 122,306,585 (GRCm39) missense probably benign 0.36
IGL01372:Bcar3 APN 3 122,316,943 (GRCm39) missense probably damaging 1.00
IGL02681:Bcar3 APN 3 122,306,417 (GRCm39) splice site probably null
IGL03403:Bcar3 APN 3 122,306,618 (GRCm39) missense probably benign 0.01
R0408:Bcar3 UTSW 3 122,302,033 (GRCm39) missense probably damaging 0.98
R0531:Bcar3 UTSW 3 122,220,148 (GRCm39) missense probably benign 0.00
R0798:Bcar3 UTSW 3 122,318,948 (GRCm39) missense probably benign 0.01
R1445:Bcar3 UTSW 3 122,316,840 (GRCm39) missense probably damaging 0.98
R1892:Bcar3 UTSW 3 122,301,785 (GRCm39) missense probably benign 0.00
R2138:Bcar3 UTSW 3 122,306,645 (GRCm39) missense probably damaging 1.00
R3236:Bcar3 UTSW 3 122,318,645 (GRCm39) missense probably benign 0.02
R3237:Bcar3 UTSW 3 122,318,645 (GRCm39) missense probably benign 0.02
R3832:Bcar3 UTSW 3 122,220,298 (GRCm39) missense probably damaging 1.00
R4801:Bcar3 UTSW 3 122,323,243 (GRCm39) missense probably benign 0.22
R4802:Bcar3 UTSW 3 122,323,243 (GRCm39) missense probably benign 0.22
R5342:Bcar3 UTSW 3 122,220,298 (GRCm39) missense probably damaging 1.00
R5364:Bcar3 UTSW 3 122,323,281 (GRCm39) missense probably benign 0.41
R5560:Bcar3 UTSW 3 122,220,224 (GRCm39) missense possibly damaging 0.92
R5714:Bcar3 UTSW 3 122,248,736 (GRCm39) missense possibly damaging 0.88
R5716:Bcar3 UTSW 3 122,306,564 (GRCm39) missense probably damaging 1.00
R5944:Bcar3 UTSW 3 122,316,932 (GRCm39) missense probably benign
R6478:Bcar3 UTSW 3 122,220,225 (GRCm39) missense probably benign 0.04
R6615:Bcar3 UTSW 3 122,220,282 (GRCm39) missense probably benign 0.00
R6996:Bcar3 UTSW 3 122,302,033 (GRCm39) missense possibly damaging 0.95
R7272:Bcar3 UTSW 3 122,302,045 (GRCm39) missense possibly damaging 0.92
R7308:Bcar3 UTSW 3 122,302,142 (GRCm39) missense probably benign 0.00
R7353:Bcar3 UTSW 3 122,306,341 (GRCm39) missense probably benign 0.00
R7465:Bcar3 UTSW 3 122,316,879 (GRCm39) missense probably benign 0.13
R7816:Bcar3 UTSW 3 122,220,343 (GRCm39) missense probably benign 0.00
R7899:Bcar3 UTSW 3 122,301,902 (GRCm39) missense probably damaging 0.97
R8066:Bcar3 UTSW 3 122,318,573 (GRCm39) missense probably damaging 1.00
R8285:Bcar3 UTSW 3 122,306,383 (GRCm39) missense probably benign 0.00
R9224:Bcar3 UTSW 3 122,319,091 (GRCm39) missense probably damaging 1.00
R9340:Bcar3 UTSW 3 122,298,462 (GRCm39) start gained probably benign
R9480:Bcar3 UTSW 3 122,277,618 (GRCm39) nonsense probably null
R9631:Bcar3 UTSW 3 122,301,801 (GRCm39) missense possibly damaging 0.91
Z1177:Bcar3 UTSW 3 122,298,667 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTCATCAGATGCCTTCCCAC -3'
(R):5'- CTATTGGCAGGTGACTCTCC -3'

Sequencing Primer
(F):5'- AGCACGGTCTTTTCAACAGG -3'
(R):5'- AGGTGACTCTCCGACTGGTG -3'
Posted On 2020-07-13