Mutagenetix > Incidental Mutation

Incidental Mutation 'R2343:Bcr'

245904

Institutional Source

Beutler Lab

Gene Symbol

Bcr

Ensembl Gene

ENSMUSG00000009681

Gene Name

BCR activator of RhoGEF and GTPase

Synonyms

breakpoint cluster region, 5133400C09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R2343 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74896424-75020753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74981254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 691 (I691T)

Ref Sequence

ENSEMBL: ENSMUSP00000126377 (fasta)

Gene Model

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

AlphaFold

Q6PAJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000164107
AA Change: I691T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: I691T

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Col20a1	A	G	2: 180,643,124 (GRCm39)	T865A	possibly damaging	Het
Dmxl1	G	A	18: 50,023,745 (GRCm39)	R1676H	probably damaging	Het
Dsg2	T	C	18: 20,735,355 (GRCm39)	V1111A	probably damaging	Het
Eif3g	T	C	9: 20,806,450 (GRCm39)	Y213C	probably damaging	Het
Fat4	C	T	3: 39,011,254 (GRCm39)	S2118F	probably damaging	Het
Gpr85	A	G	6: 13,836,695 (GRCm39)	S70P	probably damaging	Het
Krtap31-1	A	C	11: 99,798,847 (GRCm39)	T17P	possibly damaging	Het
Lig1	A	G	7: 13,026,121 (GRCm39)		probably null	Het
Lman2l	A	T	1: 36,467,190 (GRCm39)	D269E	possibly damaging	Het
Mcc	A	G	18: 44,592,864 (GRCm39)		probably null	Het
Nav2	T	C	7: 49,248,565 (GRCm39)	F2302L	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or13p4	C	A	4: 118,547,384 (GRCm39)	M88I	probably benign	Het
Or4k38	A	G	2: 111,166,045 (GRCm39)	I126T	probably damaging	Het
Sema6c	T	C	3: 95,074,394 (GRCm39)	F67L	probably damaging	Het
Sez6l	A	T	5: 112,612,597 (GRCm39)	V448D	probably damaging	Het
Smoc2	A	G	17: 14,564,604 (GRCm39)	K160R	probably benign	Het
Spata2	A	T	2: 167,325,280 (GRCm39)	V513E	probably damaging	Het
Susd3	T	A	13: 49,392,335 (GRCm39)	M107L	probably damaging	Het
Tnni3k	A	G	3: 154,644,466 (GRCm39)	I564T	probably benign	Het
Zfp971	A	G	2: 177,674,787 (GRCm39)	K129E	possibly 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
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'- TCTTAGTAGGCCTGCAGCTC -3'
(R):5'- ACAGGAGCACCGTTCTTTCTAC -3'

Sequencing Primer
(F):5'- ACTCCGTGTGACAGGATTG -3'
(R):5'- AGGAGCACCGTTCTTTCTACTTTAC -3'

Posted On

2014-10-30