Mutagenetix > Incidental Mutation

Incidental Mutation 'R7424:Bcr'

575935

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

045502-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R7424 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74896424-75020753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74992932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 809 (V809A)

Ref Sequence

ENSEMBL: ENSMUSP00000126377 (fasta)

Gene Model

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

AlphaFold

Q6PAJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000164107
AA Change: V809A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: V809A

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: ENSMUST00000218591

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (76/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,872,284 (GRCm39)	R71C	probably damaging	Het
Aanat	A	T	11: 116,486,455 (GRCm39)		probably benign	Het
Ahrr	G	T	13: 74,405,664 (GRCm39)	S91*	probably null	Het
Ampd1	A	T	3: 102,995,758 (GRCm39)	N223Y	probably benign	Het
Ankar	T	G	1: 72,719,217 (GRCm39)	N544T	probably damaging	Het
Ankk1	A	G	9: 49,330,050 (GRCm39)	S302P	possibly damaging	Het
Bpifb2	A	G	2: 153,732,460 (GRCm39)	N353S	possibly damaging	Het
Cyth1	A	T	11: 118,074,835 (GRCm39)		probably null	Het
Ddx5	A	T	11: 106,673,006 (GRCm39)	N506K	probably benign	Het
Dnaja1	A	T	4: 40,730,244 (GRCm39)	I239F	probably benign	Het
Ethe1	C	T	7: 24,305,676 (GRCm39)	T141I	probably damaging	Het
Fhip2b	T	C	14: 70,831,447 (GRCm39)	H29R	probably damaging	Het
Gdap2	A	T	3: 100,109,382 (GRCm39)	I36F	unknown	Het
Gm13030	A	T	4: 138,598,577 (GRCm39)	D115E	unknown	Het
Gm17019	A	T	5: 15,079,386 (GRCm39)	L227Q	probably damaging	Het
Gm9195	T	A	14: 72,673,217 (GRCm39)	E2517D	possibly damaging	Het
Gramd2a	T	A	9: 59,615,354 (GRCm39)	V39D	possibly damaging	Het
Hmcn1	C	T	1: 150,506,017 (GRCm39)	W3836*	probably null	Het
Hspa14	C	T	2: 3,490,078 (GRCm39)	D494N	possibly damaging	Het
Ifit2	A	G	19: 34,550,598 (GRCm39)	N46S	probably benign	Het
Ifna6	A	T	4: 88,746,044 (GRCm39)	E131V	possibly damaging	Het
Ift140	T	C	17: 25,256,010 (GRCm39)	V504A	possibly damaging	Het
Irgc	T	C	7: 24,131,653 (GRCm39)	N388S	probably damaging	Het
Itgal	T	A	7: 126,916,537 (GRCm39)	V743E	probably benign	Het
Itih5	T	C	2: 10,250,448 (GRCm39)	S716P	probably damaging	Het
Kcnab1	A	T	3: 65,173,924 (GRCm39)	K78N	possibly damaging	Het
Kif1a	A	T	1: 92,982,039 (GRCm39)	V787E	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt39	A	T	11: 99,408,917 (GRCm39)	V293E	probably damaging	Het
Lrrn4	A	G	2: 132,711,663 (GRCm39)	F720S	possibly damaging	Het
Map2	G	A	1: 66,453,983 (GRCm39)	A958T	possibly damaging	Het
Map3k9	A	G	12: 81,770,871 (GRCm39)	S906P	probably benign	Het
Mdc1	T	C	17: 36,164,201 (GRCm39)	S1250P	probably benign	Het
Meltf	G	A	16: 31,703,764 (GRCm39)	V164I	probably damaging	Het
Mtap	T	G	4: 89,097,699 (GRCm39)		probably null	Het
Mtus1	C	A	8: 41,475,443 (GRCm39)	V184F	probably damaging	Het
Myh1	A	T	11: 67,104,489 (GRCm39)	D1015V	probably damaging	Het
Ndrg1	T	C	15: 66,816,787 (GRCm39)		probably null	Het
Nkd1	G	T	8: 89,311,803 (GRCm39)	V130L	probably benign	Het
Nsfl1c	A	G	2: 151,342,673 (GRCm39)	D81G	probably benign	Het
Nt5c1b	T	A	12: 10,431,391 (GRCm39)		probably null	Het
Nucb1	T	C	7: 45,148,202 (GRCm39)	K204E	possibly damaging	Het
Nwd1	T	G	8: 73,401,801 (GRCm39)	M774R	possibly damaging	Het
Or2m13	A	T	16: 19,225,944 (GRCm39)	V274E	probably damaging	Het
Or52u1	G	C	7: 104,237,907 (GRCm39)	E299Q	probably damaging	Het
Or5an1c	A	T	19: 12,218,318 (GRCm39)	S236T	possibly damaging	Het
Pan3	T	A	5: 147,473,082 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,342,317 (GRCm39)	T1135S	probably benign	Het
Pfas	A	G	11: 68,890,918 (GRCm39)	I331T	probably damaging	Het
Plxna2	T	A	1: 194,488,647 (GRCm39)	I1641N	probably damaging	Het
Pramel27	C	T	4: 143,579,779 (GRCm39)	P455S	probably benign	Het
Ptar1	A	T	19: 23,695,465 (GRCm39)	R311W	probably damaging	Het
Ranbp2	T	G	10: 58,315,016 (GRCm39)	M1912R	probably damaging	Het
Rbm12	A	G	2: 155,939,223 (GRCm39)	F350L	possibly damaging	Het
Sdhaf1	T	C	7: 30,021,468 (GRCm39)	D96G	probably benign	Het
Serpinb6b	T	A	13: 33,152,650 (GRCm39)	M53K	probably damaging	Het
Sh2d6	A	T	6: 72,494,147 (GRCm39)	L147Q	probably benign	Het
Slc19a2	T	A	1: 164,088,445 (GRCm39)	C298S	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
St8sia2	T	A	7: 73,610,650 (GRCm39)	Q211L	possibly damaging	Het
Sult2a2	T	C	7: 13,468,822 (GRCm39)	I96T	possibly damaging	Het
Tab2	G	T	10: 7,783,247 (GRCm39)	H678Q	probably damaging	Het
Tnfaip6	A	G	2: 51,928,228 (GRCm39)	E14G	probably benign	Het
Trip11	A	T	12: 101,851,457 (GRCm39)	L869H	probably damaging	Het
Tslp	T	C	18: 32,952,133 (GRCm39)	Y133H	not run	Het
Ttn	T	C	2: 76,571,334 (GRCm39)	I26520V	probably damaging	Het
Ttn	A	G	2: 76,762,487 (GRCm39)	V3374A	unknown	Het
Tubgcp2	T	A	7: 139,587,837 (GRCm39)	I263F	possibly damaging	Het
Uaca	A	G	9: 60,777,392 (GRCm39)	E593G	probably damaging	Het
Unc13b	C	T	4: 43,172,235 (GRCm39)	T1021I	unknown	Het
Ush1c	T	A	7: 45,874,979 (GRCm39)	I131F	probably benign	Het
Usp24	C	A	4: 106,236,304 (GRCm39)	D997E	probably benign	Het
Usp54	T	C	14: 20,627,108 (GRCm39)	T517A	probably benign	Het
Vmn1r151	A	T	7: 22,198,505 (GRCm39)	M200K	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,328 (GRCm39)	D295G	probably damaging	Het
Vmn2r70	G	A	7: 85,213,076 (GRCm39)	P444S	probably damaging	Het
Vmn2r85	G	T	10: 130,254,849 (GRCm39)	P612T	probably damaging	Het
Vps13d	A	T	4: 144,875,317 (GRCm39)	V1736D		Het
Zbtb11	A	T	16: 55,810,850 (GRCm39)	H336L	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
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
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'- AAGCTCTTCACATCCTCTAAGG -3'
(R):5'- TGATCCCCTGTGCTGAAGAAC -3'

Sequencing Primer
(F):5'- TTCACATCCTCTAAGGGGCAC -3'
(R):5'- CTGAAGAACAGCTATTGCAAAGGC -3'

Posted On

2019-10-07