Incidental Mutation 'R8232:Bcr'
| ID |
637181 |
| 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 |
067664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R8232 (G1)
|
| Quality Score |
222.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
74896424-75020753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75001883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 929
(Y929C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164107]
|
| AlphaFold |
Q6PAJ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164107
AA Change: Y929C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: Y929C
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| Validation Efficiency |
100% (34/34) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
T |
4: 49,450,817 (GRCm39) |
M98K |
probably damaging |
Het |
| Actn3 |
A |
T |
19: 4,921,683 (GRCm39) |
W166R |
probably damaging |
Het |
| Adamts16 |
C |
A |
13: 70,941,217 (GRCm39) |
C390F |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,168,198 (GRCm39) |
D727V |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,757,329 (GRCm39) |
Y50F |
probably damaging |
Het |
| Camta2 |
G |
A |
11: 70,573,841 (GRCm39) |
R171C |
unknown |
Het |
| Ccnd2 |
A |
G |
6: 127,127,549 (GRCm39) |
L63P |
probably damaging |
Het |
| Clip1 |
G |
C |
5: 123,785,981 (GRCm39) |
D234E |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,746,149 (GRCm39) |
I3988N |
possibly damaging |
Het |
| Frmpd2 |
T |
G |
14: 33,261,724 (GRCm39) |
I843S |
probably damaging |
Het |
| Gcgr |
A |
G |
11: 120,427,328 (GRCm39) |
Y146C |
probably damaging |
Het |
| Gm5930 |
T |
G |
14: 44,573,181 (GRCm39) |
K158T |
probably damaging |
Het |
| Gnl1 |
T |
A |
17: 36,298,487 (GRCm39) |
C410* |
probably null |
Het |
| Gtf2h1 |
T |
A |
7: 46,451,103 (GRCm39) |
I4K |
probably benign |
Het |
| Il12b |
A |
G |
11: 44,299,401 (GRCm39) |
S157G |
possibly damaging |
Het |
| Jcad |
G |
T |
18: 4,674,862 (GRCm39) |
A875S |
probably benign |
Het |
| Kcnrg |
T |
A |
14: 61,845,386 (GRCm39) |
M142K |
probably benign |
Het |
| Krtap4-6 |
A |
C |
11: 99,556,568 (GRCm39) |
L53R |
unknown |
Het |
| Myo10 |
G |
A |
15: 25,804,400 (GRCm39) |
G1565D |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,469,157 (GRCm39) |
S806G |
probably damaging |
Het |
| Nlrp5 |
G |
T |
7: 23,116,770 (GRCm39) |
V165L |
probably benign |
Het |
| Nppa |
T |
C |
4: 148,085,795 (GRCm39) |
I134T |
possibly damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,938 (GRCm39) |
V44E |
noncoding transcript |
Het |
| Or51ai2 |
G |
A |
7: 103,586,980 (GRCm39) |
R131Q |
possibly damaging |
Het |
| Or5b107 |
A |
G |
19: 13,142,683 (GRCm39) |
M102V |
probably benign |
Het |
| Or5p68 |
A |
T |
7: 107,945,495 (GRCm39) |
M231K |
probably damaging |
Het |
| Or6c202 |
C |
A |
10: 128,996,097 (GRCm39) |
C252F |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,498,309 (GRCm39) |
F167I |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,665,722 (GRCm39) |
L740S |
probably damaging |
Het |
| Tmem183a |
T |
A |
1: 134,277,918 (GRCm39) |
D282V |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,636,442 (GRCm39) |
V255E |
possibly damaging |
Het |
| Vmn1r229 |
T |
A |
17: 21,035,309 (GRCm39) |
C185S |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,514,076 (GRCm39) |
M189K |
probably damaging |
Het |
| Vps50 |
T |
G |
6: 3,600,139 (GRCm39) |
V866G |
probably damaging |
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 |
|
|
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 |
|
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'- ACCAAGGGTATTGCACAAGG -3'
(R):5'- AAGATCTCTTGGCTGTAACACAC -3'
Sequencing Primer
(F):5'- TATTGCACAAGGGGCCAAGTTC -3'
(R):5'- TCCTCTAGGAGATTCCAGGAATGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation