Incidental Mutation 'R4273:Bcr'
| ID |
322284 |
| 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 |
041645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R4273 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
74896424-75020753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74960943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 458
(I458T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164107]
|
| AlphaFold |
Q6PAJ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164107
AA Change: I458T
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: I458T
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
T |
A |
4: 86,792,835 (GRCm39) |
|
probably null |
Het |
| Adgrf2 |
T |
A |
17: 43,021,013 (GRCm39) |
T604S |
probably damaging |
Het |
| Akap8l |
T |
A |
17: 32,540,905 (GRCm39) |
K533* |
probably null |
Het |
| Appbp2 |
T |
C |
11: 85,125,502 (GRCm39) |
Y45C |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,828,322 (GRCm39) |
I950V |
possibly damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,422,697 (GRCm39) |
E1123G |
possibly damaging |
Het |
| Atp2c1 |
G |
T |
9: 105,312,339 (GRCm39) |
N493K |
probably benign |
Het |
| Brd4 |
G |
A |
17: 32,433,756 (GRCm39) |
T468I |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,146,940 (GRCm39) |
D2774V |
possibly damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,495,417 (GRCm39) |
Y267C |
probably damaging |
Het |
| Chd6 |
C |
A |
2: 160,803,211 (GRCm39) |
A2156S |
probably benign |
Het |
| Dazap2 |
C |
A |
15: 100,515,971 (GRCm39) |
P100T |
probably damaging |
Het |
| Disp1 |
T |
A |
1: 182,869,208 (GRCm39) |
I1071F |
possibly damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,073,038 (GRCm39) |
S686T |
probably benign |
Het |
| Dst |
C |
T |
1: 34,231,421 (GRCm39) |
R3183C |
possibly damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,698 (GRCm39) |
N279D |
probably benign |
Het |
| Exoc3l |
T |
C |
8: 106,016,593 (GRCm39) |
*740W |
probably null |
Het |
| Exoc5 |
A |
T |
14: 49,252,937 (GRCm39) |
C625* |
probably null |
Het |
| Fam98b |
A |
T |
2: 117,090,712 (GRCm39) |
N137Y |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 38,945,776 (GRCm39) |
D1556E |
probably damaging |
Het |
| Fcer2a |
C |
A |
8: 3,732,848 (GRCm39) |
V319L |
possibly damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,499,371 (GRCm39) |
V1247A |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,632,748 (GRCm39) |
V201A |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,762,763 (GRCm39) |
G755D |
probably benign |
Het |
| Grid2 |
T |
C |
6: 63,886,029 (GRCm39) |
Y142H |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,608,784 (GRCm39) |
Q376R |
probably damaging |
Het |
| Impdh2 |
T |
C |
9: 108,442,155 (GRCm39) |
M414T |
probably damaging |
Het |
| Itm2c |
A |
G |
1: 85,834,750 (GRCm39) |
T160A |
probably damaging |
Het |
| Kcna2 |
T |
A |
3: 107,012,509 (GRCm39) |
D363E |
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,223,050 (GRCm39) |
C412Y |
probably damaging |
Het |
| Lims2 |
C |
G |
18: 32,089,390 (GRCm39) |
T151S |
probably benign |
Het |
| Mier1 |
T |
C |
4: 103,019,628 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,180 (GRCm39) |
W249R |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,634,609 (GRCm39) |
H2410R |
probably benign |
Het |
| Mvp |
C |
T |
7: 126,588,875 (GRCm39) |
A631T |
probably benign |
Het |
| Nepro |
T |
C |
16: 44,556,192 (GRCm39) |
V450A |
possibly damaging |
Het |
| Ngrn |
T |
C |
7: 79,914,269 (GRCm39) |
V140A |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,282,942 (GRCm39) |
E231G |
probably benign |
Het |
| Or10al7 |
A |
T |
17: 38,366,163 (GRCm39) |
I98N |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,923,971 (GRCm39) |
I155F |
probably benign |
Het |
| Pcdha3 |
C |
T |
18: 37,081,144 (GRCm39) |
R629C |
probably damaging |
Het |
| Pramel24 |
A |
T |
4: 143,453,416 (GRCm39) |
K175* |
probably null |
Het |
| Riok3 |
AGAAGCGG |
AG |
18: 12,268,998 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,110,020 (GRCm39) |
I1675T |
probably benign |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Slc35f4 |
G |
T |
14: 49,541,758 (GRCm39) |
T182N |
possibly damaging |
Het |
| Slc52a3 |
T |
A |
2: 151,847,660 (GRCm39) |
I256N |
possibly damaging |
Het |
| Sox9 |
T |
C |
11: 112,675,980 (GRCm39) |
S390P |
possibly damaging |
Het |
| Tango2 |
T |
C |
16: 18,120,654 (GRCm39) |
|
probably benign |
Het |
| Tas1r1 |
T |
C |
4: 152,116,614 (GRCm39) |
E340G |
possibly damaging |
Het |
| Tek |
G |
A |
4: 94,718,207 (GRCm39) |
G524R |
probably damaging |
Het |
| Tmem260 |
A |
T |
14: 48,742,761 (GRCm39) |
Y532F |
probably benign |
Het |
| Tsks |
C |
A |
7: 44,607,353 (GRCm39) |
L559I |
probably damaging |
Het |
| Unc79 |
C |
A |
12: 103,088,612 (GRCm39) |
L1702I |
probably damaging |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,133 (GRCm39) |
I237N |
probably damaging |
Het |
| Vmn2r17 |
G |
A |
5: 109,600,832 (GRCm39) |
C710Y |
probably benign |
Het |
| Zfp119b |
G |
T |
17: 56,245,926 (GRCm39) |
T420K |
possibly damaging |
Het |
| Zfp202 |
C |
T |
9: 40,118,790 (GRCm39) |
R68* |
probably null |
Het |
| Zfp229 |
T |
A |
17: 21,965,802 (GRCm39) |
S677R |
probably benign |
Het |
| Zfp462 |
C |
T |
4: 55,008,411 (GRCm39) |
H126Y |
probably benign |
Het |
| Zfp52 |
C |
A |
17: 21,780,459 (GRCm39) |
Y102* |
probably null |
Het |
| Zfp616 |
T |
A |
11: 73,974,526 (GRCm39) |
M265K |
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,538,173 (GRCm39) |
I1031N |
probably damaging |
Het |
| Zmynd11 |
T |
C |
13: 9,747,726 (GRCm39) |
Y203C |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTATCGATTTGGGCCCTAG -3'
(R):5'- CCGTCATGTTGCTGCATGTC -3'
Sequencing Primer
(F):5'- CCTAGTGGGGACAGGTGG -3'
(R):5'- CAAGGAGTTGTTTTCAGGACATGACC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation