Incidental Mutation 'R7443:Bcr'
| ID |
577102 |
| 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 |
045519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R7443 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
74896424-75020753 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 74978968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164107]
|
| AlphaFold |
Q6PAJ1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000164107
|
| SMART Domains |
Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
| Domain | Start | End | E-Value | Type |
|---|
|
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: 100.0%
- 10x: 99.8%
- 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,452,951 (GRCm39) |
I162T |
probably damaging |
Het |
| Acaca |
G |
A |
11: 84,206,619 (GRCm39) |
S1493N |
probably benign |
Het |
| Arf2 |
T |
A |
11: 103,859,976 (GRCm39) |
M18K |
probably benign |
Het |
| Bag5 |
A |
G |
12: 111,677,161 (GRCm39) |
S221P |
probably damaging |
Het |
| Btg2 |
T |
A |
1: 134,005,433 (GRCm39) |
K51* |
probably null |
Het |
| Chrne |
A |
G |
11: 70,509,092 (GRCm39) |
V130A |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,004,485 (GRCm39) |
V282A |
unknown |
Het |
| Cubn |
T |
A |
2: 13,460,320 (GRCm39) |
D714V |
probably damaging |
Het |
| Cyp4a29 |
A |
T |
4: 115,105,756 (GRCm39) |
I153F |
probably damaging |
Het |
| Dph7 |
C |
A |
2: 24,852,505 (GRCm39) |
H5Q |
probably benign |
Het |
| Epha6 |
T |
C |
16: 59,595,988 (GRCm39) |
N901S |
possibly damaging |
Het |
| Exosc9 |
C |
A |
3: 36,607,990 (GRCm39) |
P66Q |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,355,038 (GRCm39) |
D42G |
possibly damaging |
Het |
| Gbp11 |
A |
G |
5: 105,478,816 (GRCm39) |
|
probably null |
Het |
| Gm3264 |
A |
T |
14: 16,058,304 (GRCm39) |
Y37F |
probably damaging |
Het |
| H2-M10.2 |
T |
A |
17: 36,596,945 (GRCm39) |
I44F |
probably benign |
Het |
| Hemgn |
A |
T |
4: 46,396,145 (GRCm39) |
F364I |
probably damaging |
Het |
| Hnf4a |
A |
G |
2: 163,400,932 (GRCm39) |
I184V |
probably benign |
Het |
| Ighe |
G |
T |
12: 113,235,785 (GRCm39) |
C180* |
probably null |
Het |
| Iigp1c |
A |
T |
18: 60,379,122 (GRCm39) |
N219I |
probably benign |
Het |
| Klk1b22 |
T |
A |
7: 43,765,534 (GRCm39) |
I162K |
probably benign |
Het |
| Lmo3 |
C |
T |
6: 138,354,220 (GRCm39) |
A104T |
probably damaging |
Het |
| Lsm14a |
A |
G |
7: 34,053,263 (GRCm39) |
V263A |
probably benign |
Het |
| Ltbp1 |
T |
C |
17: 75,671,432 (GRCm39) |
Y1538H |
probably damaging |
Het |
| Ly6g6g |
T |
C |
15: 74,647,249 (GRCm39) |
E32G |
|
Het |
| Map9 |
A |
G |
3: 82,278,663 (GRCm39) |
E221G |
possibly damaging |
Het |
| Mccc2 |
G |
A |
13: 100,130,144 (GRCm39) |
A71V |
possibly damaging |
Het |
| Mdc1 |
T |
A |
17: 36,161,712 (GRCm39) |
V875E |
probably damaging |
Het |
| Mier2 |
A |
T |
10: 79,376,289 (GRCm39) |
I212N |
unknown |
Het |
| Mitd1 |
T |
C |
1: 37,920,117 (GRCm39) |
T164A |
probably benign |
Het |
| Myh1 |
T |
C |
11: 67,111,331 (GRCm39) |
I1590T |
probably benign |
Het |
| Mylk2 |
T |
G |
2: 152,753,346 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,829,652 (GRCm39) |
V118E |
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,108,873 (GRCm39) |
V1327I |
probably benign |
Het |
| Oas1c |
C |
A |
5: 120,943,484 (GRCm39) |
K218N |
probably damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,507 (GRCm39) |
D177G |
probably damaging |
Het |
| Or13a18 |
A |
G |
7: 140,190,961 (GRCm39) |
N286S |
probably damaging |
Het |
| Or1e23 |
A |
T |
11: 73,407,674 (GRCm39) |
V117D |
possibly damaging |
Het |
| Or4a80 |
T |
A |
2: 89,582,285 (GRCm39) |
M296L |
probably benign |
Het |
| Or5g26 |
T |
A |
2: 85,493,912 (GRCm39) |
I289F |
probably damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,353 (GRCm39) |
F102I |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,731,633 (GRCm39) |
M618L |
probably benign |
Het |
| P3r3urf |
G |
A |
4: 116,030,664 (GRCm39) |
G23R |
probably benign |
Het |
| Plcg2 |
A |
T |
8: 118,231,028 (GRCm39) |
T37S |
probably benign |
Het |
| Plekhg4 |
T |
C |
8: 106,107,499 (GRCm39) |
L1010P |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,943,675 (GRCm39) |
F1921L |
probably damaging |
Het |
| Prss47 |
T |
A |
13: 65,197,303 (GRCm39) |
K144N |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,988,531 (GRCm39) |
K953E |
probably damaging |
Het |
| Rasip1 |
T |
A |
7: 45,288,148 (GRCm39) |
I909N |
probably damaging |
Het |
| Rps5 |
A |
G |
7: 12,656,922 (GRCm39) |
T8A |
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,132,621 (GRCm39) |
K213E |
possibly damaging |
Het |
| Serpinb5 |
T |
C |
1: 106,809,700 (GRCm39) |
F369L |
probably benign |
Het |
| Slc4a5 |
T |
C |
6: 83,241,297 (GRCm39) |
V306A |
probably benign |
Het |
| Sox13 |
C |
A |
1: 133,312,311 (GRCm39) |
K484N |
probably damaging |
Het |
| Sox13 |
T |
C |
1: 133,312,369 (GRCm39) |
Y465C |
probably damaging |
Het |
| Stx3 |
A |
G |
19: 11,769,208 (GRCm39) |
I39T |
possibly damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,273,763 (GRCm39) |
Y116C |
probably damaging |
Het |
| Tcp11l1 |
T |
A |
2: 104,514,480 (GRCm39) |
Q429L |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,401,442 (GRCm39) |
T952I |
probably benign |
Het |
| Trib3 |
T |
C |
2: 152,181,692 (GRCm39) |
H176R |
possibly damaging |
Het |
| Trim12a |
A |
G |
7: 103,950,049 (GRCm39) |
Y297H |
probably damaging |
Het |
| Unc13a |
A |
G |
8: 72,083,603 (GRCm39) |
V1577A |
probably damaging |
Het |
| Vezf1 |
C |
A |
11: 87,965,489 (GRCm39) |
P244T |
probably damaging |
Het |
| Vmn1r121 |
T |
A |
7: 20,831,945 (GRCm39) |
D165V |
probably damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,679,107 (GRCm39) |
I706F |
probably benign |
Het |
| Vmn2r117 |
C |
T |
17: 23,679,319 (GRCm39) |
C635Y |
probably damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,339,909 (GRCm39) |
H22L |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,308,588 (GRCm39) |
M550K |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,451,489 (GRCm39) |
L798P |
probably damaging |
Het |
| Wtap |
C |
T |
17: 13,199,821 (GRCm39) |
G54D |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,917,047 (GRCm39) |
S541G |
|
Het |
| Zkscan3 |
A |
T |
13: 21,572,608 (GRCm39) |
Y341* |
probably null |
Het |
|
| Other mutations in Bcr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAGATGCTCCAGGTTTGG -3'
(R):5'- AGGCACCTGGAGATACTATTACTTC -3'
Sequencing Primer
(F):5'- CTCCAGGTTTGGCCTCATGG -3'
(R):5'- ACCTGGAGATACTATTACTTCTGTCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation