Incidental Mutation 'R6220:Bcr'
| ID |
503959 |
| 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 |
044352-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R6220 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
74896424-75020753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74898124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 423
(T423A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164107]
|
| AlphaFold |
Q6PAJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164107
AA Change: T423A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: T423A
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (65/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
A |
G |
2: 181,135,578 (GRCm39) |
D160G |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,780,505 (GRCm39) |
F15S |
probably damaging |
Het |
| Adam30 |
A |
T |
3: 98,068,625 (GRCm39) |
S153C |
probably damaging |
Het |
| Afp |
A |
T |
5: 90,652,269 (GRCm39) |
D420V |
possibly damaging |
Het |
| Ak9 |
T |
A |
10: 41,246,095 (GRCm39) |
H729Q |
unknown |
Het |
| Armh3 |
T |
C |
19: 45,834,554 (GRCm39) |
E618G |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
| Ctns |
T |
C |
11: 73,083,954 (GRCm39) |
T23A |
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,758,754 (GRCm39) |
N332K |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,126,727 (GRCm39) |
I1344N |
probably damaging |
Het |
| Elovl3 |
A |
T |
19: 46,122,939 (GRCm39) |
M172L |
probably benign |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Filip1l |
T |
A |
16: 57,390,352 (GRCm39) |
N313K |
probably benign |
Het |
| Foxp2 |
C |
A |
6: 15,437,947 (GRCm39) |
T716K |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm10645 |
A |
G |
8: 83,892,386 (GRCm39) |
|
probably benign |
Het |
| Gm10735 |
T |
C |
13: 113,178,030 (GRCm39) |
|
probably benign |
Het |
| Gm4847 |
A |
T |
1: 166,462,541 (GRCm39) |
D316E |
probably damaging |
Het |
| Gorasp2 |
T |
C |
2: 70,521,134 (GRCm39) |
L388P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,081,106 (GRCm39) |
L1382P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,341,070 (GRCm39) |
Y1729C |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,557,112 (GRCm39) |
L542H |
probably damaging |
Het |
| Ighv3-5 |
T |
A |
12: 114,226,338 (GRCm39) |
N96I |
probably damaging |
Het |
| Isl1 |
T |
C |
13: 116,439,803 (GRCm39) |
T182A |
probably benign |
Het |
| Jph4 |
T |
C |
14: 55,347,542 (GRCm39) |
E421G |
probably benign |
Het |
| Lrrc45 |
T |
C |
11: 120,610,353 (GRCm39) |
I488T |
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,075,083 (GRCm39) |
I471T |
probably benign |
Het |
| Ms4a2 |
A |
T |
19: 11,594,927 (GRCm39) |
D96E |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,784,547 (GRCm39) |
N68K |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,905,373 (GRCm39) |
M2075T |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,160,984 (GRCm39) |
K2229R |
probably null |
Het |
| Nkx6-3 |
T |
A |
8: 23,643,987 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
C |
A |
11: 71,033,164 (GRCm39) |
S10I |
probably benign |
Het |
| Npas2 |
A |
T |
1: 39,375,142 (GRCm39) |
T487S |
probably benign |
Het |
| Nrxn1 |
G |
C |
17: 91,395,904 (GRCm39) |
T84R |
probably benign |
Het |
| Or4k2 |
C |
A |
14: 50,424,135 (GRCm39) |
D180Y |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,699,700 (GRCm39) |
C921R |
probably damaging |
Het |
| Pcdha9 |
A |
G |
18: 37,131,531 (GRCm39) |
Y200C |
probably damaging |
Het |
| Pknox1 |
A |
T |
17: 31,822,177 (GRCm39) |
R315* |
probably null |
Het |
| Rasgrp1 |
C |
T |
2: 117,115,410 (GRCm39) |
W726* |
probably null |
Het |
| Rassf8 |
G |
A |
6: 145,762,859 (GRCm39) |
R402H |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,698,775 (GRCm39) |
Y1091N |
probably damaging |
Het |
| Riok3 |
T |
G |
18: 12,282,608 (GRCm39) |
V349G |
probably damaging |
Het |
| Rps18 |
A |
T |
17: 34,174,110 (GRCm39) |
V15E |
probably damaging |
Het |
| Rptor |
A |
T |
11: 119,788,268 (GRCm39) |
Y1323F |
possibly damaging |
Het |
| Rspry1 |
T |
C |
8: 95,385,378 (GRCm39) |
C437R |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,686,875 (GRCm39) |
Y996N |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,091,313 (GRCm39) |
I1011M |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,274,800 (GRCm39) |
M295K |
possibly damaging |
Het |
| Sv2c |
T |
C |
13: 96,113,134 (GRCm39) |
D605G |
probably damaging |
Het |
| Teddm1b |
G |
A |
1: 153,750,947 (GRCm39) |
W252* |
probably null |
Het |
| Tes |
T |
A |
6: 17,086,195 (GRCm39) |
C29* |
probably null |
Het |
| Thsd4 |
A |
G |
9: 59,890,030 (GRCm39) |
W856R |
probably damaging |
Het |
| Treml4 |
A |
T |
17: 48,571,876 (GRCm39) |
D93V |
possibly damaging |
Het |
| Trim66 |
T |
C |
7: 109,082,300 (GRCm39) |
T218A |
probably damaging |
Het |
| Tssk5 |
T |
C |
15: 76,257,973 (GRCm39) |
D128G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,850,819 (GRCm39) |
W1746R |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,434 (GRCm39) |
I357V |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,807 (GRCm39) |
D86E |
probably benign |
Het |
| Zfp184 |
T |
G |
13: 22,144,377 (GRCm39) |
H694Q |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,927,141 (GRCm39) |
F341L |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGCGAGGAGGACTTTTC -3'
(R):5'- CTTGCTCTAGATCTAGACCCAAGAG -3'
Sequencing Primer
(F):5'- CCGCATGTTCCGGGACAAG -3'
(R):5'- TCTAGATCTAGACCCAAGAGAGCAC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation