Incidental Mutation 'IGL02657:Bcr'
ID 302386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcr
Ensembl Gene ENSMUSG00000009681
Gene Name BCR activator of RhoGEF and GTPase
Synonyms breakpoint cluster region, 5133400C09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL02657
Quality Score
Status
Chromosome 10
Chromosomal Location 74896424-75020753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74990796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 767 (D767E)
Ref Sequence ENSEMBL: ENSMUSP00000126377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164107]
AlphaFold Q6PAJ1
Predicted Effect probably benign
Transcript: ENSMUST00000164107
AA Change: D767E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: D767E

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably damaging 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
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 74,990,745 (GRCm39) nonsense probably null
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
Posted On 2015-04-16