Incidental Mutation 'R5364:Bcar3'
ID 422981
Institutional Source Beutler Lab
Gene Symbol Bcar3
Ensembl Gene ENSMUSG00000028121
Gene Name breast cancer anti-estrogen resistance 3
Synonyms AND-34
MMRRC Submission 042942-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R5364 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 122213406-122323840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 122323281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 779 (M779L)
Ref Sequence ENSEMBL: ENSMUSP00000029766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029766]
AlphaFold Q9QZK2
Predicted Effect probably benign
Transcript: ENSMUST00000029766
AA Change: M779L

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029766
Gene: ENSMUSG00000028121
AA Change: M779L

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
Meta Mutation Damage Score 0.0761 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.3%
Validation Efficiency 100% (102/102)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C G 7: 27,278,192 (GRCm39) T242R probably damaging Het
Abcc10 G A 17: 46,616,577 (GRCm39) R1205C probably benign Het
Acer1 A G 17: 57,289,000 (GRCm39) F37L probably damaging Het
Acp7 C A 7: 28,310,448 (GRCm39) G463V probably benign Het
Actr2 A T 11: 20,050,797 (GRCm39) probably benign Het
Adam15 A T 3: 89,252,902 (GRCm39) I272K probably damaging Het
Adam1b T A 5: 121,638,946 (GRCm39) I700F possibly damaging Het
Adam33 A G 2: 130,896,392 (GRCm39) probably null Het
Ano1 T C 7: 144,190,941 (GRCm39) Y380C probably damaging Het
Arfgap3 A C 15: 83,198,562 (GRCm39) M307R probably damaging Het
Arhgap21 T A 2: 20,854,533 (GRCm39) R1610W probably damaging Het
Bbs2 A G 8: 94,801,023 (GRCm39) Y603H probably benign Het
Bbs9 G T 9: 22,486,492 (GRCm39) probably null Het
Bub3 A T 7: 131,162,467 (GRCm39) N10I possibly damaging Het
Cacna1c T G 6: 118,633,504 (GRCm39) E1098D probably benign Het
Cacna1g T A 11: 94,307,684 (GRCm39) M1738L probably benign Het
Camk2d G T 3: 126,574,069 (GRCm39) G159C probably damaging Het
Ccdc51 A T 9: 108,921,188 (GRCm39) E358D possibly damaging Het
Cdc42bpa A G 1: 179,894,747 (GRCm39) D309G probably benign Het
Cdhr3 A T 12: 33,101,007 (GRCm39) F468I possibly damaging Het
Chrd A G 16: 20,551,898 (GRCm39) M1V probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Dcdc2b T C 4: 129,502,963 (GRCm39) Y253C probably damaging Het
Dclk1 A C 3: 55,163,366 (GRCm39) N153H possibly damaging Het
Dgkg G T 16: 22,419,211 (GRCm39) S96R probably benign Het
Dnah9 A G 11: 65,772,522 (GRCm39) Y3737H possibly damaging Het
Elovl4 A T 9: 83,672,076 (GRCm39) I81N probably benign Het
Epha7 T A 4: 28,950,557 (GRCm39) Y791N probably damaging Het
Fam193a C A 5: 34,623,597 (GRCm39) T1395N probably benign Het
Fbln5 A T 12: 101,737,623 (GRCm39) V141E probably damaging Het
Flii T C 11: 60,610,954 (GRCm39) T492A probably benign Het
Fnip2 A G 3: 79,388,475 (GRCm39) I752T probably benign Het
Fpr3 T C 17: 18,190,806 (GRCm39) W26R probably benign Het
Gabrb1 A T 5: 72,294,105 (GRCm39) T460S probably benign Het
Gde1 T C 7: 118,297,874 (GRCm39) N4S probably benign Het
Ghitm G T 14: 36,847,156 (GRCm39) T306K probably benign Het
Ghitm A T 14: 36,847,174 (GRCm39) I300N probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Iqcd T C 5: 120,738,332 (GRCm39) I50T probably damaging Het
Itpripl1 G A 2: 126,983,739 (GRCm39) P128S possibly damaging Het
Jag2 C A 12: 112,874,154 (GRCm39) L1000F probably damaging Het
Klhdc4 A T 8: 122,533,375 (GRCm39) probably benign Het
Klra5 A G 6: 129,876,316 (GRCm39) F164L probably benign Het
Larp1b A G 3: 40,931,658 (GRCm39) Y288C probably damaging Het
Lrfn3 T A 7: 30,055,078 (GRCm39) E622D possibly damaging Het
Lyst A G 13: 13,831,439 (GRCm39) D1621G probably benign Het
Mastl T C 2: 23,023,665 (GRCm39) T353A probably benign Het
Mkln1 T C 6: 31,473,647 (GRCm39) Y130H probably damaging Het
Mms22l T A 4: 24,496,882 (GRCm39) probably benign Het
Mroh7 T A 4: 106,548,840 (GRCm39) M1008L probably benign Het
Nipal1 T C 5: 72,825,243 (GRCm39) V312A probably damaging Het
Nlrp5 T A 7: 23,117,753 (GRCm39) Y492* probably null Het
Odad1 T A 7: 45,585,756 (GRCm39) I105N probably damaging Het
Or1n1 T C 2: 36,750,006 (GRCm39) Y118C probably damaging Het
Otulinl G A 15: 27,660,031 (GRCm39) Q24* probably null Het
Pcdhb11 T A 18: 37,555,232 (GRCm39) D187E probably benign Het
Pcdhb13 A G 18: 37,576,561 (GRCm39) Y313C probably damaging Het
Pdpn G A 4: 143,000,526 (GRCm39) T102I possibly damaging Het
Pear1 A T 3: 87,665,668 (GRCm39) C120S probably damaging Het
Peg10 T C 6: 4,756,128 (GRCm39) probably benign Het
Ppm1e A G 11: 87,128,007 (GRCm39) W384R probably benign Het
Ppp1r10 C T 17: 36,241,324 (GRCm39) P700S unknown Het
Prl2c5 G A 13: 13,357,627 (GRCm39) R13K probably benign Het
Prmt3 C A 7: 49,498,554 (GRCm39) P487T probably damaging Het
Proser3 C A 7: 30,245,573 (GRCm39) A144S possibly damaging Het
Ptcd1 G A 5: 145,088,241 (GRCm39) T590I probably damaging Het
Rbsn A G 6: 92,170,958 (GRCm39) V321A probably damaging Het
Slc40a1 C A 1: 45,964,383 (GRCm39) C14F probably damaging Het
Slc6a15 T C 10: 103,229,369 (GRCm39) I136T probably damaging Het
Slc7a4 A G 16: 17,391,227 (GRCm39) I449T probably benign Het
Snrnp48 T A 13: 38,394,165 (GRCm39) probably null Het
Tada2a A G 11: 84,011,973 (GRCm39) Y23H probably benign Het
Tbx15 A T 3: 99,259,508 (GRCm39) S460C possibly damaging Het
Tbx21 C T 11: 96,992,304 (GRCm39) probably null Het
Tmcc2 T G 1: 132,285,534 (GRCm39) T376P probably damaging Het
Tmco4 G A 4: 138,779,815 (GRCm39) C420Y probably damaging Het
Tmem235 C A 11: 117,755,020 (GRCm39) Y157* probably null Het
Tmem63b T C 17: 45,975,653 (GRCm39) probably benign Het
Tnfrsf1a T C 6: 125,334,356 (GRCm39) S92P possibly damaging Het
Top3b A T 16: 16,704,834 (GRCm39) T397S probably benign Het
Trabd C A 15: 88,967,007 (GRCm39) probably benign Het
Trbv21 A T 6: 41,179,764 (GRCm39) I27L possibly damaging Het
Trim3 C T 7: 105,268,276 (GRCm39) V169M probably damaging Het
Ttn T C 2: 76,807,458 (GRCm39) T92A probably damaging Het
Ttn C T 2: 76,738,860 (GRCm39) S3893N probably benign Het
Uchl4 A T 9: 64,142,821 (GRCm39) I101F possibly damaging Het
Vmn1r5 T A 6: 56,962,583 (GRCm39) M86K probably damaging Het
Vmn2r55 T A 7: 12,404,830 (GRCm39) Q191L possibly damaging Het
Zfp458 A T 13: 67,406,012 (GRCm39) C139* probably null Het
Zfp788 T C 7: 41,299,551 (GRCm39) L729P probably damaging Het
Zmym2 T A 14: 57,158,102 (GRCm39) M547K 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
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'- TCTTTGAAGCTGACAAATGCCC -3'
(R):5'- TTACTTAGAGTTGACAGGCATGCC -3'

Sequencing Primer
(F):5'- TTTGAAGCTGACAAATGCCCTACATC -3'
(R):5'- TTGACAGGCATGCCCAGTG -3'
Posted On 2016-08-04