Incidental Mutation 'R7353:Bcar3'
ID 570719
Institutional Source Beutler Lab
Gene Symbol Bcar3
Ensembl Gene ENSMUSG00000028121
Gene Name breast cancer anti-estrogen resistance 3
Synonyms AND-34
MMRRC Submission 045439-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R7353 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 122213406-122323840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122306341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 454 (T454A)
Ref Sequence ENSEMBL: ENSMUSP00000029766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029766] [ENSMUST00000197073] [ENSMUST00000198659] [ENSMUST00000199344] [ENSMUST00000199358]
AlphaFold Q9QZK2
Predicted Effect probably benign
Transcript: ENSMUST00000029766
AA Change: T454A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029766
Gene: ENSMUSG00000028121
AA Change: T454A

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
AA Change: T105A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143112
Gene: ENSMUSG00000028121
AA Change: T105A

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
PDB:3T6A|D 149 186 4e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000199344
AA Change: T105A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143711
Gene: ENSMUSG00000028121
AA Change: T105A

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: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik C A 13: 119,624,714 (GRCm39) A11S unknown Het
Aadacl4 G A 4: 144,344,490 (GRCm39) V89I probably damaging Het
Abcc9 T A 6: 142,546,731 (GRCm39) I1369F probably damaging Het
Adgrf3 T A 5: 30,403,495 (GRCm39) I427F probably damaging Het
Alox12e T C 11: 70,212,261 (GRCm39) Y139C probably damaging Het
Arhgef2 T A 3: 88,542,993 (GRCm39) V397E possibly damaging Het
Arhgef28 T A 13: 98,211,710 (GRCm39) Y91F probably damaging Het
Bicc1 G T 10: 70,783,730 (GRCm39) T469K probably benign Het
Boc C T 16: 44,306,100 (GRCm39) V1070M unknown Het
Ccdc88a T A 11: 29,413,368 (GRCm39) N635K probably benign Het
Ccr2 T C 9: 123,906,793 (GRCm39) S358P probably damaging Het
Ccser2 T C 14: 36,663,100 (GRCm39) Q28R possibly damaging Het
Cenpf T A 1: 189,386,335 (GRCm39) K1982* probably null Het
Csn1s2a A T 5: 87,933,161 (GRCm39) I137F possibly damaging Het
Cttnbp2 A T 6: 18,375,943 (GRCm39) I1532K possibly damaging Het
Dnajc13 C A 9: 104,107,230 (GRCm39) R304L possibly damaging Het
Dop1a T A 9: 86,394,912 (GRCm39) M664K probably damaging Het
Emilin3 T A 2: 160,750,741 (GRCm39) E336V probably damaging Het
Eml5 A G 12: 98,791,683 (GRCm39) Y63H Het
Fbxo41 G T 6: 85,456,958 (GRCm39) R404S possibly damaging Het
Gpr155 A T 2: 73,197,835 (GRCm39) Y456* probably null Het
Gpr156 T A 16: 37,812,523 (GRCm39) N286K probably damaging Het
Kcna5 A G 6: 126,511,808 (GRCm39) S107P probably benign Het
Kcne2 A T 16: 92,093,710 (GRCm39) H79L possibly damaging Het
Kcnh4 T A 11: 100,648,025 (GRCm39) M113L probably benign Het
Lad1 T A 1: 135,755,513 (GRCm39) L263Q probably damaging Het
Lctl G A 9: 64,034,249 (GRCm39) G296D probably damaging Het
Lmtk3 A T 7: 45,437,424 (GRCm39) I205F possibly damaging Het
Magel2 G T 7: 62,029,079 (GRCm39) R661L unknown Het
Mcm10 G A 2: 5,011,920 (GRCm39) P180S possibly damaging Het
Mia3 G T 1: 183,108,247 (GRCm39) A446D Het
N4bp2 G A 5: 65,963,714 (GRCm39) V588M probably benign Het
Naip6 C T 13: 100,436,259 (GRCm39) V755M probably benign Het
Neurl1a T C 19: 47,229,099 (GRCm39) V213A probably damaging Het
Nrdc A G 4: 108,896,946 (GRCm39) T522A probably damaging Het
Ntng1 T C 3: 110,042,763 (GRCm39) Q21R probably damaging Het
Nup160 T C 2: 90,534,296 (GRCm39) L707S probably damaging Het
Oas2 A T 5: 120,876,587 (GRCm39) V452D probably damaging Het
Or10a3n A G 7: 108,493,429 (GRCm39) F67L probably damaging Het
Or1j1 A G 2: 36,702,915 (GRCm39) L63P probably damaging Het
Or1j4 A T 2: 36,740,081 (GRCm39) M8L probably benign Het
Or1n1 G A 2: 36,749,680 (GRCm39) R227* probably null Het
Or52s1 A C 7: 102,861,516 (GRCm39) T150P probably damaging Het
Plekhg1 A T 10: 3,914,327 (GRCm39) T1405S Het
Pnrc1 G A 4: 33,248,300 (GRCm39) P33L probably damaging Het
Prkag2 A T 5: 25,085,684 (GRCm39) V312E possibly damaging Het
Rps17 T A 7: 80,994,093 (GRCm39) E76V possibly damaging Het
Rsph10b G A 5: 143,904,038 (GRCm39) G672S possibly damaging Het
Slc2a13 T C 15: 91,205,807 (GRCm39) N460S probably benign Het
Slco2b1 A T 7: 99,339,764 (GRCm39) C56S possibly damaging Het
Speer1f G A 5: 11,466,403 (GRCm39) D7N possibly damaging Het
Spn T C 7: 126,736,178 (GRCm39) T110A probably benign Het
Sult2a8 T C 7: 14,147,640 (GRCm39) N217S possibly damaging Het
Tbx2 C A 11: 85,724,315 (GRCm39) T128N probably damaging Het
Tecpr2 A T 12: 110,934,278 (GRCm39) M1313L probably benign Het
Tmc2 G A 2: 130,038,497 (GRCm39) probably null Het
Tstd1 G T 1: 171,247,523 (GRCm39) A69S probably damaging Het
Txnrd3 A G 6: 89,638,567 (GRCm39) D252G probably benign Het
Ulk2 T C 11: 61,710,174 (GRCm39) N345D probably damaging Het
Unc13c T C 9: 73,481,355 (GRCm39) D1694G probably benign Het
Vill T C 9: 118,894,561 (GRCm39) V406A probably damaging Het
Vmn2r115 T C 17: 23,564,887 (GRCm39) V258A possibly damaging Het
Vmn2r82 T A 10: 79,232,452 (GRCm39) M817K probably benign Het
Xpnpep3 T C 15: 81,315,088 (GRCm39) S263P probably benign Het
Zfp980 A G 4: 145,428,714 (GRCm39) D481G probably benign Het
Zmpste24 A G 4: 120,952,778 (GRCm39) S81P probably damaging Het
Znrf4 A G 17: 56,819,169 (GRCm39) V46A probably benign 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
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
R8165:Bcar3 UTSW 3 122,304,805 (GRCm39) unclassified probably benign
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'- TCTTCAGATGCTAGGACAGGG -3'
(R):5'- CTGAATGACGACACGGTCTC -3'

Sequencing Primer
(F):5'- TTCGGGGATCAGACAGCCAG -3'
(R):5'- ATGACGACACGGTCTCCATGAG -3'
Posted On 2019-09-13