Mutagenetix > Incidental Mutation

Incidental Mutation 'R5982:Bcr'

481468

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

044163-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R5982 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74896424-75020753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75012248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 51 (T51K)

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: T1048K

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: T1048K

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: T51K

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218465

Predicted Effect

probably benign
Transcript: ENSMUST00000218591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219807

Meta Mutation Damage Score

0.0808

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,844,423 (GRCm39)	E931D	possibly damaging	Het
Aebp1	C	T	11: 5,817,911 (GRCm39)	T62I	possibly damaging	Het
Babam2	A	T	5: 31,977,964 (GRCm39)	E139V	possibly damaging	Het
Bclaf1	C	T	10: 20,198,809 (GRCm39)	R67*	probably null	Het
Best3	T	A	10: 116,840,322 (GRCm39)	C251S	probably damaging	Het
Birc6	A	G	17: 74,955,153 (GRCm39)	M3457V	probably benign	Het
C87436	C	A	6: 86,422,957 (GRCm39)	T177K	possibly damaging	Het
Cabin1	T	A	10: 75,561,394 (GRCm39)	T1036S	probably benign	Het
Catsperg2	C	A	7: 29,412,442 (GRCm39)	V383L	possibly damaging	Het
Ccdc182	C	T	11: 88,185,165 (GRCm39)	Q82*	probably null	Het
Ccl9	T	C	11: 83,466,700 (GRCm39)	T76A	probably damaging	Het
Cdc16	G	T	8: 13,831,399 (GRCm39)	C544F	possibly damaging	Het
Cdh18	A	C	15: 23,474,302 (GRCm39)	D724A	possibly damaging	Het
Cdip1	G	A	16: 4,587,946 (GRCm39)	P6S	probably damaging	Het
Col12a1	A	G	9: 79,537,842 (GRCm39)	V2542A	probably damaging	Het
Dnajc13	G	T	9: 104,061,814 (GRCm39)	T1380K	possibly damaging	Het
Dsg4	T	A	18: 20,598,226 (GRCm39)	S715T	possibly damaging	Het
Dync2h1	G	T	9: 6,955,986 (GRCm39)	T4132K	probably benign	Het
Egfem1	A	T	3: 29,711,419 (GRCm39)		probably null	Het
Etl4	G	T	2: 20,785,826 (GRCm39)	V716L	probably damaging	Het
Exoc3l2	A	G	7: 19,213,957 (GRCm39)	E461G	unknown	Het
Fam135b	A	G	15: 71,320,518 (GRCm39)		probably null	Het
Flrt3	G	T	2: 140,502,836 (GRCm39)	P264Q	possibly damaging	Het
Fmn2	G	C	1: 174,330,019 (GRCm39)	E136D	unknown	Het
Fosl2	A	G	5: 32,304,217 (GRCm39)	I51V	probably benign	Het
Foxm1	A	G	6: 128,347,998 (GRCm39)	T307A	probably damaging	Het
Garem1	T	C	18: 21,281,408 (GRCm39)	D316G	possibly damaging	Het
Gm14403	A	T	2: 177,200,345 (GRCm39)	H97L	probably damaging	Het
Gm5616	A	G	9: 48,361,890 (GRCm39)		noncoding transcript	Het
Hkdc1	T	C	10: 62,229,589 (GRCm39)	D696G	probably benign	Het
Igkv1-88	C	A	6: 68,839,432 (GRCm39)	W60L	probably damaging	Het
Iqgap3	G	A	3: 87,998,899 (GRCm39)	W333*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnk3	G	T	5: 30,780,014 (GRCm39)	V355L	probably benign	Het
Kmt5c	A	C	7: 4,749,790 (GRCm39)	K436T	probably damaging	Het
Lynx1	T	C	15: 74,623,264 (GRCm39)	Y56C	possibly damaging	Het
Lypd5	T	C	7: 24,052,462 (GRCm39)	S149P	probably damaging	Het
Map3k21	A	T	8: 126,638,169 (GRCm39)	N252Y	probably damaging	Het
Mgat2	T	C	12: 69,232,454 (GRCm39)	W343R	probably damaging	Het
Misp	T	G	10: 79,663,728 (GRCm39)	Y567*	probably null	Het
Mrgprb1	A	T	7: 48,097,568 (GRCm39)	S115T	probably benign	Het
Muc16	A	C	9: 18,558,442 (GRCm39)	I2617R	unknown	Het
Myo19	T	A	11: 84,790,226 (GRCm39)	V394E	probably damaging	Het
Myo9b	T	A	8: 71,801,040 (GRCm39)	L1065Q	probably benign	Het
Nap1l1	A	G	10: 111,331,229 (GRCm39)	D405G	possibly damaging	Het
Napb	A	T	2: 148,542,411 (GRCm39)		probably null	Het
Nbas	A	G	12: 13,443,431 (GRCm39)	Y1162C	probably benign	Het
Nfam1	A	T	15: 82,917,325 (GRCm39)	L36Q	probably damaging	Het
Nrros	T	C	16: 31,963,411 (GRCm39)	D202G	probably damaging	Het
Or51k1	T	G	7: 103,661,117 (GRCm39)	H264P	probably damaging	Het
Or7a39	T	G	10: 78,715,787 (GRCm39)	Y260*	probably null	Het
Osgin2	T	C	4: 15,998,908 (GRCm39)	E238G	probably benign	Het
Papss2	A	G	19: 32,616,636 (GRCm39)	T221A	probably benign	Het
Pcdhga12	A	C	18: 37,901,084 (GRCm39)	K639Q	probably damaging	Het
Pkhd1l1	T	A	15: 44,352,900 (GRCm39)		probably null	Het
Pmepa1	A	G	2: 173,076,105 (GRCm39)	S83P	possibly damaging	Het
Pnp	G	A	14: 51,188,000 (GRCm39)	V118M	probably damaging	Het
Ppat	T	C	5: 77,063,112 (GRCm39)	T500A	probably benign	Het
Pramel22	C	A	4: 143,381,034 (GRCm39)	V330F	probably damaging	Het
Rab11fip4	A	G	11: 79,581,601 (GRCm39)	N532S	probably benign	Het
Rbm25	A	G	12: 83,718,725 (GRCm39)	D499G	probably damaging	Het
Rnf139	A	G	15: 58,770,687 (GRCm39)	I237M	possibly damaging	Het
Rrp15	C	T	1: 186,471,952 (GRCm39)	S85N	possibly damaging	Het
Sidt1	T	C	16: 44,082,071 (GRCm39)	Y568C	probably damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Sltm	G	C	9: 70,494,086 (GRCm39)	E828Q	probably damaging	Het
Spindoc	A	G	19: 7,351,960 (GRCm39)	I129T	probably damaging	Het
Spire1	T	A	18: 67,630,386 (GRCm39)		probably null	Het
Styx	A	G	14: 45,605,909 (GRCm39)	T138A	probably benign	Het
Sv2c	A	T	13: 96,112,571 (GRCm39)	L642*	probably null	Het
Taf7	T	C	18: 37,776,498 (GRCm39)	E23G	probably damaging	Het
Tcp10a	A	T	17: 7,612,425 (GRCm39)	T406S	possibly damaging	Het
Tnrc6b	T	A	15: 80,765,017 (GRCm39)	S840T	probably benign	Het
Tns3	A	G	11: 8,442,245 (GRCm39)	I706T	probably damaging	Het
Tpsab1	A	G	17: 25,564,346 (GRCm39)	V36A	probably benign	Het
Trafd1	T	A	5: 121,511,342 (GRCm39)	D492V	probably damaging	Het
Trp53	A	G	11: 69,478,244 (GRCm39)	E51G	probably benign	Het
Vdr	C	T	15: 97,755,477 (GRCm39)	A349T	probably benign	Het
Vmn2r59	T	C	7: 41,695,491 (GRCm39)	D307G	probably benign	Het
Zfp365	C	A	10: 67,733,437 (GRCm39)	V252F	probably damaging	Het
Zfp830	T	A	11: 82,655,803 (GRCm39)	N202K	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
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'- TCTGGGACCTGTTTGACCTG -3'
(R):5'- ACAGTCTCACAGTTGTCCCTG -3'

Sequencing Primer
(F):5'- CCTGGAGGTGAAAAGGGTTGTTG -3'
(R):5'- TCACAGTTGTCCCTGGGGTC -3'

Posted On

2017-06-26