Mutagenetix > Incidental Mutations

Incidental Mutation 'R0021:Brinp3'

19024

Institutional Source

Beutler Lab

Gene Symbol

Brinp3

Ensembl Gene

ENSMUSG00000035131

Gene Name

bone morphogenetic protein/retinoic acid inducible neural specific 3

Synonyms

Fam5c, B830045N13Rik

MMRRC Submission

038316-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R0021 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

146494760-146902472 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 146901451 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 545 (S545R)

Ref Sequence

ENSEMBL: ENSMUSP00000126074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074622] [ENSMUST00000128345] [ENSMUST00000166814]

Predicted Effect

probably benign
Transcript: ENSMUST00000074622
AA Change: S545R

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000074201
Gene: ENSMUSG00000035131
AA Change: S545R

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
MACPF	78	264	7.69e-42	SMART
low complexity region	315	326	N/A	INTRINSIC
coiled coil region	349	372	N/A	INTRINSIC
EGF	440	475	1.73e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128345

SMART Domains

Protein: ENSMUSP00000116763
Gene: ENSMUSG00000035131

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166814
AA Change: S545R

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126074
Gene: ENSMUSG00000035131
AA Change: S545R

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
MACPF	78	264	7.69e-42	SMART
low complexity region	315	326	N/A	INTRINSIC
coiled coil region	349	372	N/A	INTRINSIC
EGF	440	475	1.73e1	SMART

Meta Mutation Damage Score

0.0904

Coding Region Coverage

1x: 84.2%
3x: 78.9%
10x: 65.7%
20x: 50.3%

Validation Efficiency

96% (92/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	A	G	7: 44,677,196		noncoding transcript	Het
5830411N06Rik	G	A	7: 140,296,397	R594H	probably benign	Het
Abcc5	T	A	16: 20,378,661	K647*	probably null	Het
Aplp1	A	G	7: 30,435,816		probably benign	Het
AU019823	A	C	9: 50,610,425	D65E	probably damaging	Het
Baiap3	T	C	17: 25,243,669	E1105G	probably damaging	Het
Btnl1	A	G	17: 34,379,494	E28G	probably benign	Het
Ccr6	G	A	17: 8,256,766	V268M	possibly damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
D630045J12Rik	G	A	6: 38,183,967	Q1081*	probably null	Het
Dhx15	T	C	5: 52,157,488	T626A	probably damaging	Het
Dhx36	T	C	3: 62,477,595	I699V	possibly damaging	Het
Dnah9	A	G	11: 65,969,979	I2855T	probably benign	Het
Fsip2	T	A	2: 82,999,857		probably benign	Het
Galnt11	A	T	5: 25,248,857	D27V	probably damaging	Het
Gm4981	C	A	10: 58,235,563	E276D	probably benign	Het
Gm5134	T	A	10: 75,993,884	C335S	probably damaging	Het
Hdhd2	A	T	18: 76,970,615	K227N	probably damaging	Het
Itgb4	A	T	11: 115,979,627	D94V	possibly damaging	Het
Krtcap3	A	G	5: 31,252,959	H227R	probably benign	Het
Macf1	T	C	4: 123,475,577	H232R	probably damaging	Het
Map2k4	A	G	11: 65,712,284	I174T	probably damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Mcm9	G	A	10: 53,537,901	T1099I	possibly damaging	Het
Nqo2	T	C	13: 33,981,507	I129T	probably benign	Het
Pdgfrb	T	A	18: 61,064,926		probably benign	Het
Phf7	C	T	14: 31,238,486		probably benign	Het
Plac8	T	A	5: 100,556,568	T88S	probably benign	Het
Prss52	T	G	14: 64,104,408	V16G	probably benign	Het
Psmb9	G	A	17: 34,184,303	A80V	probably benign	Het
Ptprk	T	A	10: 28,592,895	V1425E	probably damaging	Het
Scn2a	T	C	2: 65,670,515	V7A	possibly damaging	Het
Serpini1	T	C	3: 75,619,313	Y291H	probably damaging	Het
Setd6	A	G	8: 95,716,665	K19E	probably damaging	Het
Siah2	T	C	3: 58,676,292	H191R	probably benign	Het
Slc27a2	T	C	2: 126,567,886		probably benign	Het
Tbc1d10a	T	C	11: 4,213,680	C277R	probably damaging	Het
Trim55	A	C	3: 19,644,702	M32L	probably benign	Het
Unc5b	T	C	10: 60,778,919	T200A	probably benign	Het
Wrap53	A	T	11: 69,563,886	M219K	probably damaging	Het
Zfp790	G	A	7: 29,825,688		probably benign	Het

Other mutations in Brinp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Brinp3	APN	1	146901774	missense	probably damaging	0.99
IGL00503:Brinp3	APN	1	146901167	missense	probably benign
IGL01702:Brinp3	APN	1	146751997	splice site	probably benign
IGL01728:Brinp3	APN	1	146831551	splice site	probably null
IGL01733:Brinp3	APN	1	146514803	missense	probably benign	0.33
IGL01937:Brinp3	APN	1	146901140	missense	probably benign
IGL02020:Brinp3	APN	1	146902127	utr 3 prime	probably benign
IGL02082:Brinp3	APN	1	146751862	missense	probably damaging	1.00
IGL02365:Brinp3	APN	1	146901122	missense	probably benign	0.00
IGL02366:Brinp3	APN	1	146701743	missense	possibly damaging	0.84
IGL02565:Brinp3	APN	1	146902032	missense	probably damaging	0.98
IGL02999:Brinp3	APN	1	146701849	splice site	probably null
IGL03099:Brinp3	APN	1	146902097	missense	possibly damaging	0.91
PIT4283001:Brinp3	UTSW	1	146901423	missense	probably damaging	0.99
PIT4418001:Brinp3	UTSW	1	146901423	missense	probably damaging	0.99
R0021:Brinp3	UTSW	1	146901451	missense	probably benign	0.04
R0266:Brinp3	UTSW	1	146682680	nonsense	probably null
R1468:Brinp3	UTSW	1	146901962	missense	probably benign	0.01
R1468:Brinp3	UTSW	1	146901962	missense	probably benign	0.01
R1522:Brinp3	UTSW	1	146901890	missense	probably damaging	0.99
R1596:Brinp3	UTSW	1	146514782	missense	probably benign
R1898:Brinp3	UTSW	1	146901249	missense	possibly damaging	0.93
R2036:Brinp3	UTSW	1	146701841	missense	possibly damaging	0.84
R2224:Brinp3	UTSW	1	146901920	nonsense	probably null
R2272:Brinp3	UTSW	1	146901404	missense	possibly damaging	0.93
R2291:Brinp3	UTSW	1	146901074	missense	possibly damaging	0.85
R2322:Brinp3	UTSW	1	146701754	missense	probably benign
R2880:Brinp3	UTSW	1	146902002	missense	probably damaging	0.98
R3918:Brinp3	UTSW	1	146751861	missense	probably damaging	0.99
R3939:Brinp3	UTSW	1	146751861	missense	probably damaging	0.99
R3940:Brinp3	UTSW	1	146751861	missense	probably damaging	0.99
R3941:Brinp3	UTSW	1	146751861	missense	probably damaging	0.99
R3942:Brinp3	UTSW	1	146751861	missense	probably damaging	0.99
R4095:Brinp3	UTSW	1	146901692	missense	possibly damaging	0.72
R4783:Brinp3	UTSW	1	146727640	intron	probably benign
R5009:Brinp3	UTSW	1	146901049	missense	probably benign	0.25
R5034:Brinp3	UTSW	1	146727720	intron	probably benign
R5166:Brinp3	UTSW	1	146901367	missense	probably damaging	0.96
R5372:Brinp3	UTSW	1	146831726	missense	probably damaging	1.00
R5472:Brinp3	UTSW	1	146901459	missense	possibly damaging	0.86
R5651:Brinp3	UTSW	1	146701799	missense	probably benign	0.01
R5681:Brinp3	UTSW	1	146901746	missense	probably benign	0.12
R6351:Brinp3	UTSW	1	146901585	missense	probably damaging	0.96
R6470:Brinp3	UTSW	1	146901906	missense	probably damaging	0.99
R6499:Brinp3	UTSW	1	146901693	missense	possibly damaging	0.86
R7078:Brinp3	UTSW	1	146514889	nonsense	probably null
R7223:Brinp3	UTSW	1	146901074	missense	possibly damaging	0.85
R7322:Brinp3	UTSW	1	146682688	nonsense	probably null
R7347:Brinp3	UTSW	1	146902086	missense	probably benign	0.22
R7375:Brinp3	UTSW	1	146902010	missense	possibly damaging	0.91
R7412:Brinp3	UTSW	1	146902010	missense	possibly damaging	0.91
R7532:Brinp3	UTSW	1	146901401	missense	probably damaging	0.98
R7562:Brinp3	UTSW	1	146902010	missense	possibly damaging	0.91
R7576:Brinp3	UTSW	1	146901563	missense	probably damaging	0.99
R7723:Brinp3	UTSW	1	146701671	missense	probably damaging	1.00
R7737:Brinp3	UTSW	1	146682594	missense	probably damaging	0.98
R7793:Brinp3	UTSW	1	146746568	missense	probably benign	0.20
X0060:Brinp3	UTSW	1	146901786	missense	probably benign	0.01

Posted On

2013-03-25