Incidental Mutation 'R3237:Bcar3'
ID 259079
Institutional Source Beutler Lab
Gene Symbol Bcar3
Ensembl Gene ENSMUSG00000028121
Gene Name breast cancer anti-estrogen resistance 3
Synonyms AND-34
MMRRC Submission 040619-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R3237 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 122213406-122323840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 122318645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 678 (Q678K)
Ref Sequence ENSEMBL: ENSMUSP00000029766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029766] [ENSMUST00000199344]
AlphaFold Q9QZK2
Predicted Effect probably benign
Transcript: ENSMUST00000029766
AA Change: Q678K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000029766
Gene: ENSMUSG00000028121
AA Change: Q678K

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 noncoding transcript
Transcript: ENSMUST00000197959
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
Meta Mutation Damage Score 0.0717 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aff2 T A X: 68,907,543 (GRCm39) V1175E possibly damaging Het
Agbl3 A G 6: 34,800,022 (GRCm39) probably null Het
Ccm2 G A 11: 6,520,090 (GRCm39) V53I probably benign Het
Cd3e G T 9: 44,913,608 (GRCm39) C42* probably null Het
Cd4 A T 6: 124,844,633 (GRCm39) I384N probably benign Het
Ceacam11 T A 7: 17,707,379 (GRCm39) F54L probably benign Het
Cfap46 A G 7: 139,197,506 (GRCm39) S2122P probably damaging Het
Clptm1 A G 7: 19,369,271 (GRCm39) S461P probably damaging Het
Dlat T C 9: 50,549,331 (GRCm39) T518A possibly damaging Het
Dnah17 T C 11: 117,985,680 (GRCm39) T1466A probably benign Het
Dnah9 G A 11: 65,845,815 (GRCm39) T3023I probably benign Het
Fam181a T G 12: 103,282,348 (GRCm39) C84W possibly damaging Het
Gask1a C T 9: 121,793,935 (GRCm39) P30S possibly damaging Het
H2-Q6 C A 17: 35,644,676 (GRCm39) T155K probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Inpp5b A G 4: 124,674,279 (GRCm39) R329G probably benign Het
Klrb1f A T 6: 129,031,306 (GRCm39) I168L possibly damaging Het
Lama4 A T 10: 38,973,175 (GRCm39) I1581F probably damaging Het
Lipn A G 19: 34,046,138 (GRCm39) N37S probably benign Het
Lyzl4 T C 9: 121,413,233 (GRCm39) D65G probably benign Het
Med29 A G 7: 28,092,046 (GRCm39) probably benign Het
Myrip C A 9: 120,270,473 (GRCm39) D574E possibly damaging Het
N4bp3 A T 11: 51,536,761 (GRCm39) F104Y probably damaging Het
Nlrp9a A T 7: 26,270,810 (GRCm39) K892* probably null Het
Nsd1 T A 13: 55,460,701 (GRCm39) H2309Q possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Optn T C 2: 5,039,014 (GRCm39) S370G probably damaging Het
Pbrm1 T C 14: 30,754,432 (GRCm39) F151L probably damaging Het
Plekhs1 A T 19: 56,453,032 (GRCm39) probably null Het
Rpn1 A G 6: 88,080,396 (GRCm39) K565R probably benign Het
Rrh T C 3: 129,605,360 (GRCm39) Y110C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr1 C T 7: 28,769,075 (GRCm39) probably null Het
Scai C T 2: 39,040,326 (GRCm39) probably benign Het
Scap C G 9: 110,208,650 (GRCm39) P564A probably damaging Het
Setdb1 A G 3: 95,246,065 (GRCm39) V619A probably damaging Het
Slc41a3 T C 6: 90,613,847 (GRCm39) Y226H probably benign Het
Slf2 A G 19: 44,930,773 (GRCm39) I617V probably benign Het
Sned1 G A 1: 93,186,725 (GRCm39) R180Q probably benign Het
Spata22 T A 11: 73,236,713 (GRCm39) F340I probably damaging Het
St8sia3 T C 18: 64,402,886 (GRCm39) F175S probably damaging Het
Supt20 T C 3: 54,616,501 (GRCm39) S253P possibly damaging Het
Syngap1 T A 17: 27,176,067 (GRCm39) Y118* probably null Het
Szt2 A C 4: 118,240,231 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Uba3 G T 6: 97,163,201 (GRCm39) T319K probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Zc3hav1 A G 6: 38,296,650 (GRCm39) L751S probably damaging Het
Zfp804b T C 5: 6,819,239 (GRCm39) M1275V probably benign Het
Zgrf1 A G 3: 127,407,024 (GRCm39) D1597G probably 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
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
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'- TGACAGCTTCATGATCATCTGTC -3'
(R):5'- ACGCTGCAGAGCTATATGAG -3'

Sequencing Primer
(F):5'- GTCACCTGTTCCAAAACTTTAGCAG -3'
(R):5'- AGGGCCACTGTGTGAGC -3'
Posted On 2015-01-23