Mutagenetix > Incidental Mutations

Incidental Mutation 'R1141:Brinp2'

102084

Institutional Source

Beutler Lab

Gene Symbol

Brinp2

Ensembl Gene

ENSMUSG00000004031

Gene Name

bone morphogenic protein/retinoic acid inducible neural-specific 2

Synonyms

6430517E21Rik, Fam5b

MMRRC Submission

039214-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R1141 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

158245269-158356326 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 158247270 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 427 (C427F)

Ref Sequence

ENSEMBL: ENSMUSP00000004133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004133] [ENSMUST00000195271]

Predicted Effect

probably damaging
Transcript: ENSMUST00000004133
AA Change: C427F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004133
Gene: ENSMUSG00000004031
AA Change: C427F

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
MACPF	89	281	6.58e-50	SMART
Blast:MACPF	338	362	1e-5	BLAST
EGF	457	492	6.92e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195271

SMART Domains

Protein: ENSMUSP00000141709
Gene: ENSMUSG00000004031

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:MACPF	63	160	2.1e-6	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.0%
10x: 94.1%
20x: 84.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	A	6: 86,965,476		probably null	Het
Asap2	A	G	12: 21,185,110	N71S	probably damaging	Het
Brinp1	T	C	4: 68,792,978	H331R	probably benign	Het
Ccr6	A	G	17: 8,256,002	Y13C	probably damaging	Het
Celf4	T	C	18: 25,504,904	D187G	probably damaging	Het
Clcn6	T	G	4: 148,013,899	T556P	probably damaging	Het
Dst	A	T	1: 34,188,696	Q1968L	possibly damaging	Het
Elavl4	G	A	4: 110,251,368	Q53*	probably null	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Gli2	T	C	1: 118,837,937	H828R	possibly damaging	Het
Gm12166	G	A	11: 46,051,954	A114V	possibly damaging	Het
Gpr108	A	G	17: 57,237,219	V397A	probably damaging	Het
Lrba	T	C	3: 86,619,558	I2241T	probably damaging	Het
Map3k21	G	A	8: 125,941,732	V686M	probably benign	Het
Nfatc4	A	T	14: 55,832,631	E752V	probably damaging	Het
R3hdm1	G	A	1: 128,231,405	R939H	probably benign	Het
Rnf213	A	G	11: 119,435,983	T1599A	probably benign	Het
Slc3a1	T	C	17: 85,028,649	F73S	possibly damaging	Het
Sppl3	TGG	TG	5: 115,088,293		probably null	Het
Stx1b	T	C	7: 127,810,926		probably null	Het
Tnc	C	T	4: 64,013,994	V728M	probably damaging	Het
Trim24	C	T	6: 37,915,293	H254Y	probably damaging	Het
Ttbk2	A	G	2: 120,806,851	L42P	probably damaging	Het
Vmn2r53	G	A	7: 12,600,746	T329I	possibly damaging	Het
Zfp174	T	A	16: 3,849,457	I170N	probably benign	Het
Zfp455	T	A	13: 67,198,591	L22Q	probably damaging	Het

Other mutations in Brinp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Brinp2	APN	1	158247100	missense	probably benign	0.04
IGL01537:Brinp2	APN	1	158246809	missense	probably damaging	1.00
IGL02354:Brinp2	APN	1	158247178	missense	probably damaging	1.00
IGL02361:Brinp2	APN	1	158247178	missense	probably damaging	1.00
R0334:Brinp2	UTSW	1	158295585	missense	probably benign	0.06
R0652:Brinp2	UTSW	1	158246621	missense	probably damaging	1.00
R1017:Brinp2	UTSW	1	158249451	missense	probably damaging	0.99
R1378:Brinp2	UTSW	1	158247054	missense	possibly damaging	0.82
R1666:Brinp2	UTSW	1	158246558	missense	probably damaging	1.00
R1892:Brinp2	UTSW	1	158254972	critical splice donor site	probably null
R1986:Brinp2	UTSW	1	158246778	missense	probably damaging	1.00
R3876:Brinp2	UTSW	1	158246846	missense	probably damaging	0.99
R3924:Brinp2	UTSW	1	158246208	missense	probably damaging	1.00
R4582:Brinp2	UTSW	1	158267938	missense	probably damaging	1.00
R5239:Brinp2	UTSW	1	158251338	missense	probably benign	0.00
R5537:Brinp2	UTSW	1	158255013	missense	probably damaging	0.97
R5582:Brinp2	UTSW	1	158249409	missense	probably damaging	1.00
R5762:Brinp2	UTSW	1	158246586	missense	probably benign
R5922:Brinp2	UTSW	1	158249355	missense	possibly damaging	0.79
R6746:Brinp2	UTSW	1	158266590	missense	probably benign
R6999:Brinp2	UTSW	1	158251305	missense	probably benign	0.20
R7144:Brinp2	UTSW	1	158295424	critical splice donor site	probably null
R7221:Brinp2	UTSW	1	158266547	missense	possibly damaging	0.90
R7376:Brinp2	UTSW	1	158251368	missense	probably damaging	0.98
R7381:Brinp2	UTSW	1	158246343	missense	probably benign	0.11
R7388:Brinp2	UTSW	1	158255009	missense	probably damaging	1.00
R7531:Brinp2	UTSW	1	158266572	missense	possibly damaging	0.95
R7697:Brinp2	UTSW	1	158267926	missense	probably benign
R7701:Brinp2	UTSW	1	158266460	critical splice donor site	probably null
R7910:Brinp2	UTSW	1	158246880	missense	probably damaging	1.00
R7991:Brinp2	UTSW	1	158246880	missense	probably damaging	1.00
X0024:Brinp2	UTSW	1	158267983	nonsense	probably null
Z1088:Brinp2	UTSW	1	158246989	nonsense	probably null
Z1176:Brinp2	UTSW	1	158247039	missense	probably damaging	1.00
Z1176:Brinp2	UTSW	1	158247171	nonsense	probably null
Z1177:Brinp2	UTSW	1	158246782	missense	possibly damaging	0.62

Predicted Primers

Posted On

2014-01-15