Incidental Mutation 'R4723:Bcr'
| ID |
354615 |
| 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 |
041959-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R4723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
74896424-75020753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75011161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 24
(M24K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164107]
[ENSMUST00000218057]
|
| AlphaFold |
Q6PAJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164107
AA Change: M1021K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: M1021K
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218057
AA Change: M24K
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218465
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219807
|
| Meta Mutation Damage Score |
0.1894 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
94% (77/82) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,581,644 (GRCm39) |
D4800G |
probably benign |
Het |
| Akna |
T |
C |
4: 63,305,269 (GRCm39) |
D499G |
probably benign |
Het |
| Arid1b |
A |
C |
17: 5,387,565 (GRCm39) |
I1673L |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,989,854 (GRCm39) |
V1966A |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,867,227 (GRCm39) |
N928S |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdc6 |
G |
A |
11: 98,799,657 (GRCm39) |
|
probably null |
Het |
| Cfap97d2 |
A |
T |
8: 13,785,937 (GRCm39) |
N69I |
probably damaging |
Het |
| Cmtm1 |
C |
T |
8: 105,020,307 (GRCm39) |
A371T |
probably damaging |
Het |
| Cmtm7 |
A |
C |
9: 114,592,459 (GRCm39) |
V46G |
possibly damaging |
Het |
| Cmtr1 |
A |
G |
17: 29,906,131 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
T |
C |
9: 20,720,887 (GRCm39) |
H149R |
unknown |
Het |
| Coro7 |
T |
G |
16: 4,449,858 (GRCm39) |
Q634P |
probably benign |
Het |
| Crym |
A |
G |
7: 119,800,298 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,532,556 (GRCm39) |
F2546L |
probably benign |
Het |
| Dmap1 |
T |
C |
4: 117,533,236 (GRCm39) |
T273A |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,994,899 (GRCm39) |
Y2786C |
probably damaging |
Het |
| Echs1 |
A |
C |
7: 139,690,561 (GRCm39) |
|
probably benign |
Het |
| Edem3 |
T |
A |
1: 151,680,449 (GRCm39) |
F525I |
possibly damaging |
Het |
| Exosc3 |
T |
C |
4: 45,319,642 (GRCm39) |
I127V |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,578,130 (GRCm39) |
D208G |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,508,621 (GRCm39) |
V773A |
probably benign |
Het |
| Gas6 |
A |
G |
8: 13,516,848 (GRCm39) |
V550A |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm2423 |
A |
G |
13: 13,406,961 (GRCm39) |
|
noncoding transcript |
Het |
| Grin1 |
T |
C |
2: 25,184,482 (GRCm39) |
S911G |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,236,133 (GRCm39) |
I470V |
probably benign |
Het |
| Hsdl2 |
T |
A |
4: 59,593,270 (GRCm39) |
|
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,048,176 (GRCm39) |
Y519H |
probably damaging |
Het |
| Ikbkb |
A |
T |
8: 23,159,623 (GRCm39) |
M455K |
probably benign |
Het |
| Keap1 |
G |
T |
9: 21,142,706 (GRCm39) |
H516Q |
probably benign |
Het |
| Klk1b27 |
A |
T |
7: 43,705,956 (GRCm39) |
I220F |
probably damaging |
Het |
| Knop1 |
G |
A |
7: 118,455,087 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
T |
C |
17: 89,050,030 (GRCm39) |
T499A |
probably benign |
Het |
| Lrch3 |
A |
T |
16: 32,808,854 (GRCm39) |
|
probably null |
Het |
| Lrrc2 |
G |
A |
9: 110,799,228 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
T |
C |
15: 91,648,962 (GRCm39) |
L1652P |
probably damaging |
Het |
| Mbl1 |
T |
C |
14: 40,876,515 (GRCm39) |
V71A |
possibly damaging |
Het |
| Med8 |
T |
A |
4: 118,268,998 (GRCm39) |
M1K |
probably null |
Het |
| Mfsd2b |
A |
G |
12: 4,918,992 (GRCm39) |
L88P |
probably benign |
Het |
| Mkrn2 |
T |
A |
6: 115,588,811 (GRCm39) |
C185S |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,670,667 (GRCm39) |
|
probably benign |
Het |
| Napg |
T |
G |
18: 63,125,563 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
A |
G |
11: 62,269,438 (GRCm39) |
M253T |
probably benign |
Het |
| Oas3 |
T |
C |
5: 120,904,321 (GRCm39) |
T518A |
unknown |
Het |
| Obox3-ps8 |
A |
G |
17: 36,764,036 (GRCm39) |
|
noncoding transcript |
Het |
| Opn5 |
A |
T |
17: 42,918,091 (GRCm39) |
M57K |
probably damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,028 (GRCm39) |
F195L |
probably benign |
Het |
| Or13j1 |
T |
C |
4: 43,705,785 (GRCm39) |
K261R |
probably damaging |
Het |
| Or52p1 |
T |
C |
7: 104,267,696 (GRCm39) |
V270A |
possibly damaging |
Het |
| Pde2a |
C |
G |
7: 101,143,825 (GRCm39) |
P148R |
possibly damaging |
Het |
| Prss56 |
C |
T |
1: 87,113,059 (GRCm39) |
L158F |
possibly damaging |
Het |
| Psmg3 |
G |
A |
5: 139,812,125 (GRCm39) |
|
probably benign |
Het |
| Rnase9 |
C |
T |
14: 51,276,901 (GRCm39) |
G26R |
probably damaging |
Het |
| Skint4 |
T |
C |
4: 111,975,433 (GRCm39) |
V131A |
possibly damaging |
Het |
| Slc10a4 |
T |
A |
5: 73,169,398 (GRCm39) |
V341E |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,890,741 (GRCm39) |
Y188C |
probably damaging |
Het |
| Slc7a1 |
G |
T |
5: 148,272,250 (GRCm39) |
P476T |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,743,742 (GRCm39) |
C474* |
probably null |
Het |
| Smurf1 |
A |
T |
5: 144,829,994 (GRCm39) |
D336E |
probably damaging |
Het |
| Sox30 |
G |
A |
11: 45,875,592 (GRCm39) |
S448N |
probably benign |
Het |
| Spag11a |
G |
A |
8: 19,209,398 (GRCm39) |
V63I |
possibly damaging |
Het |
| Sprr1b |
T |
G |
3: 92,344,600 (GRCm39) |
K92T |
probably damaging |
Het |
| Stam2 |
T |
C |
2: 52,610,962 (GRCm39) |
Y20C |
probably benign |
Het |
| Sult2b1 |
T |
A |
7: 45,391,489 (GRCm39) |
Y97F |
probably damaging |
Het |
| Tecpr2 |
C |
T |
12: 110,899,410 (GRCm39) |
P593S |
probably benign |
Het |
| Tek |
T |
C |
4: 94,687,397 (GRCm39) |
V170A |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,500,592 (GRCm39) |
Y891C |
probably benign |
Het |
| Tmem220 |
A |
G |
11: 66,920,819 (GRCm39) |
T75A |
possibly damaging |
Het |
| Traf3 |
T |
G |
12: 111,228,470 (GRCm39) |
D560E |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,675,015 (GRCm39) |
H56R |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,602 (GRCm39) |
N367Y |
probably benign |
Het |
| Vnn3 |
A |
G |
10: 23,727,589 (GRCm39) |
I36M |
possibly damaging |
Het |
| Zbtb7a |
G |
A |
10: 80,980,274 (GRCm39) |
R156H |
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 |
|
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'- TAATAGATCAGTTCCCTTCCCTGG -3'
(R):5'- TGACCTGAGAGGACTCCTTC -3'
Sequencing Primer
(F):5'- TGGCCGCAGTAGGACTCTG -3'
(R):5'- GGACTCCTTCCTATGCAGTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation