Mutagenetix > Incidental Mutation

Incidental Mutation 'R0892:Bcr'

83539

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

039055-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R0892 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74896424-75020753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74960895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 442 (A442V)

Ref Sequence

ENSEMBL: ENSMUSP00000126377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164107]

AlphaFold

Q6PAJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000164107
AA Change: A442V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: A442V

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: 99.5%
3x: 98.9%
10x: 97.5%
20x: 95.4%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,248,305 (GRCm39)	V2684E	probably benign	Het
Ankub1	T	C	3: 57,597,800 (GRCm39)	R57G	probably benign	Het
Cd46	T	C	1: 194,764,920 (GRCm39)	T226A	possibly damaging	Het
Dmkn	C	T	7: 30,466,829 (GRCm39)	R114C	probably damaging	Het
Ell2	A	T	13: 75,911,758 (GRCm39)	N348I	probably damaging	Het
Epg5	T	A	18: 78,011,843 (GRCm39)	I830N	possibly damaging	Het
Gm15737	C	T	6: 92,856,721 (GRCm39)		probably benign	Het
Gpa33	A	G	1: 165,985,211 (GRCm39)	N182S	probably damaging	Het
Gpr37	A	T	6: 25,688,206 (GRCm39)	I297N	probably damaging	Het
Hpse2	T	C	19: 43,376,585 (GRCm39)	K56E	probably benign	Het
Lamc1	G	A	1: 153,208,000 (GRCm39)	H96Y	possibly damaging	Het
Mapre2	A	G	18: 23,991,200 (GRCm39)	N189S	probably benign	Het
Msmo1	T	A	8: 65,175,587 (GRCm39)	I148F	possibly damaging	Het
Myh6	T	C	14: 55,184,511 (GRCm39)	T1607A	probably benign	Het
Oog2	A	T	4: 143,923,069 (GRCm39)	T445S	probably benign	Het
Or5b122	T	A	19: 13,562,881 (GRCm39)	V28D	probably damaging	Het
Plag1	G	A	4: 3,904,532 (GRCm39)	Q220*	probably null	Het
Pom121l2	A	G	13: 22,166,644 (GRCm39)	E305G	possibly damaging	Het
Prorp	A	G	12: 55,429,033 (GRCm39)		probably null	Het
Sbsn	A	T	7: 30,454,244 (GRCm39)	Q50L	possibly damaging	Het
Slc25a42	A	G	8: 70,644,597 (GRCm39)	L34P	probably damaging	Het
Sptbn1	C	A	11: 30,092,201 (GRCm39)	R521S	probably damaging	Het
St14	A	T	9: 31,011,724 (GRCm39)	V394E	probably benign	Het
Tatdn3	T	C	1: 190,795,002 (GRCm39)	D18G	probably benign	Het
Trappc8	A	G	18: 20,964,665 (GRCm39)		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
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
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'- ACTGGAGTCTCCAAGAGATGCCTG -3'
(R):5'- TTGCTGCATGTCCCCGAACAAG -3'

Sequencing Primer
(F):5'- CAAGAGATGCCTGTGTGTGAC -3'
(R):5'- CCCGAACAAGGAGTTGTTTTCAG -3'

Posted On

2013-11-08