Incidental Mutation 'R9611:Bcr'
ID 724225
Institutional Source Beutler Lab
Gene Symbol Bcr
Ensembl Gene ENSMUSG00000009681
Gene Name BCR activator of RhoGEF and GTPase
Synonyms breakpoint cluster region, 5133400C09Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R9611 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 74896424-75020753 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 74990745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 750 (Y750*)
Ref Sequence ENSEMBL: ENSMUSP00000126377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164107]
AlphaFold Q6PAJ1
Predicted Effect probably null
Transcript: ENSMUST00000164107
AA Change: Y750*
SMART Domains Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: Y750*

DomainStartEndE-ValueType
Pfam:Bcr-Abl_Oligo 3 75 1.2e-44 PFAM
low complexity region 86 109 N/A INTRINSIC
low complexity region 121 147 N/A INTRINSIC
low complexity region 342 358 N/A INTRINSIC
low complexity region 371 389 N/A INTRINSIC
low complexity region 461 470 N/A INTRINSIC
RhoGEF 501 689 6.22e-51 SMART
PH 708 867 7.95e-8 SMART
C2 911 1016 2.85e-11 SMART
RhoGAP 1064 1248 6.42e-70 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are defective in hormonal and behavioral stress response regulation and prone to septic shock, whereas chimeric mice carrying a BCR-ABL fusion mutation mimicking human Philadelphia chromosome develop chronic myeloid leukemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A T 18: 59,023,399 (GRCm39) T265S probably benign Het
Ahnak T A 19: 8,989,162 (GRCm39) L3482Q probably damaging Het
Arhgef5 A G 6: 43,257,890 (GRCm39) I1311M probably damaging Het
Btbd16 T A 7: 130,407,595 (GRCm39) M295K probably benign Het
Ccdc88a T C 11: 29,427,316 (GRCm39) L1007P possibly damaging Het
Cnep1r1 A G 8: 88,860,457 (GRCm39) *126W probably null Het
Cntnap5b C A 1: 99,894,935 (GRCm39) P69Q probably damaging Het
Coa8 T G 12: 111,700,108 (GRCm39) Y163D probably damaging Het
Col4a3 A G 1: 82,678,018 (GRCm39) M1207V unknown Het
Colgalt2 T A 1: 152,360,745 (GRCm39) W261R probably damaging Het
Cstf1 T A 2: 172,214,984 (GRCm39) I35N probably benign Het
Cstpp1 T C 2: 91,135,127 (GRCm39) D111G probably damaging Het
Cul9 A G 17: 46,830,823 (GRCm39) L1690P possibly damaging Het
Dscaml1 C A 9: 45,579,522 (GRCm39) N356K possibly damaging Het
Ecm2 A G 13: 49,668,518 (GRCm39) N74D probably benign Het
Ecm2 A G 13: 49,681,216 (GRCm39) I450M probably damaging Het
Emc1 T A 4: 139,091,035 (GRCm39) D460E probably benign Het
Fhip2b T C 14: 70,824,258 (GRCm39) Y493C probably benign Het
Fmo5 C T 3: 97,549,089 (GRCm39) R246C possibly damaging Het
Fyco1 T C 9: 123,657,585 (GRCm39) T864A possibly damaging Het
Galk2 T C 2: 125,817,218 (GRCm39) Y336H probably damaging Het
Gcsh T A 8: 117,720,125 (GRCm39) Y14F probably benign Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gucy2g T C 19: 55,194,605 (GRCm39) I937M probably damaging Het
Hsp90ab1 T C 17: 45,880,600 (GRCm39) I370M possibly damaging Het
Hypk T C 2: 121,288,154 (GRCm39) S72P probably damaging Het
Ighv1-26 T C 12: 114,752,206 (GRCm39) Y46C probably damaging Het
Kctd13 G T 7: 126,544,180 (GRCm39) G293C probably damaging Het
Kmt2d CTGCTGTTGCTG CTGCTG 15: 98,743,054 (GRCm39) probably benign Het
Kmt2d CTGTTG CTG 15: 98,743,057 (GRCm39) probably benign Het
Krt13 T C 11: 100,012,318 (GRCm39) S2G probably benign Het
Mark4 C A 7: 19,167,338 (GRCm39) R467L possibly damaging Het
Mrps33 T A 6: 39,779,422 (GRCm39) K91M probably damaging Het
Or51f1 T G 7: 102,506,147 (GRCm39) H114P probably damaging Het
Or5ac25 A C 16: 59,182,242 (GRCm39) I113S probably benign Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Phldb3 G A 7: 24,328,372 (GRCm39) V639M probably damaging Het
Pigyl A T 9: 22,069,499 (GRCm39) H70L probably damaging Het
Pip4k2c A C 10: 127,036,069 (GRCm39) L266R probably damaging Het
Plg T C 17: 12,609,213 (GRCm39) Y173H probably benign Het
Pmp22 G T 11: 63,024,065 (GRCm39) V25F probably benign Het
Pot1b T A 17: 56,006,995 (GRCm39) T41S probably benign Het
Ppp1r16b T A 2: 158,537,998 (GRCm39) Y40N probably damaging Het
Prl5a1 A G 13: 28,329,492 (GRCm39) E57G possibly damaging Het
Prpf3 G A 3: 95,758,931 (GRCm39) R74* probably null Het
Psmb10 A G 8: 106,664,144 (GRCm39) F75S probably benign Het
Ptprm C A 17: 67,000,483 (GRCm39) R1167M probably damaging Het
Rmnd5b T C 11: 51,517,869 (GRCm39) I162V probably damaging Het
Sik1 T A 17: 32,073,246 (GRCm39) K70M probably damaging Het
Slc44a4 C T 17: 35,147,793 (GRCm39) S611F probably benign Het
St18 T C 1: 6,873,147 (GRCm39) V294A probably benign Het
Stk32a A G 18: 43,430,620 (GRCm39) I177V probably benign Het
Syne2 T C 12: 76,080,460 (GRCm39) F58S probably benign Het
Tcf7l2 A G 19: 55,899,038 (GRCm39) D215G probably null Het
Tcirg1 A T 19: 3,953,400 (GRCm39) F149Y probably benign Het
Tex14 T A 11: 87,377,084 (GRCm39) F143I probably damaging Het
Tjp3 A G 10: 81,119,411 (GRCm39) V26A possibly damaging Het
Tnfaip8 ACACACTCTC AC 18: 50,179,908 (GRCm39) probably benign Het
Tpx2 T A 2: 152,715,124 (GRCm39) V115D probably benign Het
Tubb2b C A 13: 34,311,742 (GRCm39) K350N probably damaging Het
Vps13b G T 15: 35,642,555 (GRCm39) G1389V possibly damaging Het
Vps39 T C 2: 120,172,485 (GRCm39) R183G probably damaging Het
Wdr47 A T 3: 108,518,729 (GRCm39) E72D probably damaging Het
Wnk4 G T 11: 101,159,250 (GRCm39) E556* probably null Het
Xpo7 T A 14: 70,925,617 (GRCm39) E474V probably benign Het
Zfat A G 15: 68,051,655 (GRCm39) V713A possibly damaging Het
Zfp189 G T 4: 49,530,058 (GRCm39) C387F probably damaging Het
Zmiz1 T C 14: 25,651,022 (GRCm39) V502A probably benign Het
Other mutations in Bcr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Bcr APN 10 74,992,903 (GRCm39) unclassified probably benign
IGL00662:Bcr APN 10 75,003,932 (GRCm39) splice site probably benign
IGL01359:Bcr APN 10 74,995,611 (GRCm39) unclassified probably benign
IGL01737:Bcr APN 10 74,990,783 (GRCm39) missense probably damaging 0.99
IGL01908:Bcr APN 10 74,897,705 (GRCm39) missense possibly damaging 0.85
IGL01954:Bcr APN 10 75,011,173 (GRCm39) splice site probably null
IGL02169:Bcr APN 10 74,995,714 (GRCm39) missense probably benign 0.07
IGL02379:Bcr APN 10 74,992,980 (GRCm39) missense probably benign 0.02
IGL02380:Bcr APN 10 75,011,131 (GRCm39) missense probably benign
IGL02385:Bcr APN 10 74,981,235 (GRCm39) missense probably damaging 1.00
IGL02657:Bcr APN 10 74,990,796 (GRCm39) missense probably benign 0.00
IGL02682:Bcr APN 10 75,001,878 (GRCm39) missense possibly damaging 0.67
IGL02959:Bcr APN 10 74,996,222 (GRCm39) missense probably benign 0.44
accrual UTSW 10 74,897,338 (GRCm39) missense possibly damaging 0.77
Appreciation UTSW 10 74,896,957 (GRCm39) nonsense probably null
R0329:Bcr UTSW 10 75,017,466 (GRCm39) missense possibly damaging 0.88
R0330:Bcr UTSW 10 75,017,466 (GRCm39) missense possibly damaging 0.88
R0376:Bcr UTSW 10 74,981,159 (GRCm39) missense probably damaging 1.00
R0685:Bcr UTSW 10 74,967,475 (GRCm39) missense probably damaging 1.00
R0828:Bcr UTSW 10 74,993,039 (GRCm39) unclassified probably benign
R0892:Bcr UTSW 10 74,960,895 (GRCm39) missense probably benign 0.00
R1143:Bcr UTSW 10 74,897,197 (GRCm39) missense probably benign 0.00
R1416:Bcr UTSW 10 74,897,338 (GRCm39) missense possibly damaging 0.77
R1479:Bcr UTSW 10 74,896,957 (GRCm39) nonsense probably null
R1611:Bcr UTSW 10 74,961,034 (GRCm39) splice site probably null
R1636:Bcr UTSW 10 74,966,898 (GRCm39) missense probably damaging 1.00
R1837:Bcr UTSW 10 75,003,932 (GRCm39) splice site probably benign
R2341:Bcr UTSW 10 74,966,944 (GRCm39) missense probably damaging 1.00
R2343:Bcr UTSW 10 74,981,254 (GRCm39) missense probably benign 0.03
R3753:Bcr UTSW 10 74,971,772 (GRCm39) missense probably benign 0.05
R4273:Bcr UTSW 10 74,960,943 (GRCm39) missense probably damaging 0.97
R4624:Bcr UTSW 10 74,989,752 (GRCm39) missense probably damaging 1.00
R4723:Bcr UTSW 10 75,011,161 (GRCm39) missense probably benign 0.45
R5013:Bcr UTSW 10 74,960,898 (GRCm39) missense probably benign 0.00
R5359:Bcr UTSW 10 75,001,917 (GRCm39) missense probably damaging 0.99
R5458:Bcr UTSW 10 74,990,792 (GRCm39) missense probably benign
R5982:Bcr UTSW 10 75,012,248 (GRCm39) missense probably benign 0.08
R5988:Bcr UTSW 10 75,011,167 (GRCm39) missense probably benign 0.01
R6220:Bcr UTSW 10 74,898,124 (GRCm39) missense probably benign
R6827:Bcr UTSW 10 74,966,896 (GRCm39) missense probably damaging 1.00
R6886:Bcr UTSW 10 74,989,769 (GRCm39) missense probably damaging 1.00
R6990:Bcr UTSW 10 74,966,868 (GRCm39) missense possibly damaging 0.80
R7003:Bcr UTSW 10 74,897,393 (GRCm39) missense probably benign 0.08
R7424:Bcr UTSW 10 74,992,932 (GRCm39) missense probably benign
R7443:Bcr UTSW 10 74,978,968 (GRCm39) critical splice donor site probably null
R7488:Bcr UTSW 10 74,996,162 (GRCm39) missense possibly damaging 0.80
R8232:Bcr UTSW 10 75,001,883 (GRCm39) missense probably damaging 1.00
R8360:Bcr UTSW 10 74,981,271 (GRCm39) missense probably damaging 0.96
R8992:Bcr UTSW 10 74,967,404 (GRCm39) missense probably damaging 1.00
R9362:Bcr UTSW 10 74,993,023 (GRCm39) missense probably benign 0.19
R9487:Bcr UTSW 10 74,967,431 (GRCm39) missense probably damaging 1.00
R9610:Bcr UTSW 10 74,990,745 (GRCm39) nonsense probably null
R9610:Bcr UTSW 10 74,990,743 (GRCm39) missense probably damaging 1.00
R9611:Bcr UTSW 10 74,990,743 (GRCm39) missense probably damaging 1.00
R9630:Bcr UTSW 10 74,966,950 (GRCm39) missense probably damaging 1.00
R9662:Bcr UTSW 10 75,011,152 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCCTTTCAAACTCTATGGTTCTG -3'
(R):5'- AGTATGTGCTCTCCCAGACAG -3'

Sequencing Primer
(F):5'- TATCCTGTCCAAAACTGGGGC -3'
(R):5'- AGACAGTCACACCTTCTCTCG -3'
Posted On 2022-09-12