Mutagenetix > Incidental Mutation

Incidental Mutation 'R2880:Brinp3'

260265

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

040468-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R2880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146371367-146778210 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 146777740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 729 (R729H)

Ref Sequence

ENSEMBL: ENSMUSP00000126074 (fasta)

Gene Model

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

AlphaFold

Q499E0

Predicted Effect

probably damaging
Transcript: ENSMUST00000074622
AA Change: R729H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074201
Gene: ENSMUSG00000035131
AA Change: R729H

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 damaging
Transcript: ENSMUST00000166814
AA Change: R729H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126074
Gene: ENSMUSG00000035131
AA Change: R729H

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	C	T	10: 88,948,661 (GRCm39)	E150K	probably damaging	Het
Blnk	T	C	19: 40,950,899 (GRCm39)	Y84C	probably damaging	Het
Bsn	C	T	9: 107,990,266 (GRCm39)	A1829T	possibly damaging	Het
Cd300c	A	T	11: 114,850,616 (GRCm39)	N62K	probably benign	Het
Chd3	T	C	11: 69,242,946 (GRCm39)	D1425G	probably damaging	Het
Ewsr1	C	A	11: 5,028,523 (GRCm39)		probably benign	Het
Gm4076	G	A	13: 85,275,357 (GRCm39)		noncoding transcript	Het
Gm9637	A	G	14: 19,401,978 (GRCm38)		noncoding transcript	Het
Greb1l	A	T	18: 10,547,288 (GRCm39)	N1502I	possibly damaging	Het
H13	A	G	2: 152,537,481 (GRCm39)	M309V	probably damaging	Het
Lmf2	A	G	15: 89,235,856 (GRCm39)	S683P	possibly damaging	Het
Lrit1	T	A	14: 36,779,394 (GRCm39)	L109Q	probably damaging	Het
Maml2	A	T	9: 13,531,893 (GRCm39)		probably null	Het
Map3k14	C	A	11: 103,111,858 (GRCm39)	R941L	probably damaging	Het
Megf6	A	G	4: 154,337,006 (GRCm39)	K262E	probably damaging	Het
Mtnr1b	T	G	9: 15,774,102 (GRCm39)	Y319S	probably damaging	Het
Myh8	A	G	11: 67,188,090 (GRCm39)	K954R	probably damaging	Het
Myof	T	C	19: 37,911,473 (GRCm39)	D1486G	probably benign	Het
Nbea	A	G	3: 55,554,779 (GRCm39)	V2623A	probably benign	Het
Pak1	T	A	7: 97,554,018 (GRCm39)	Y463N	probably damaging	Het
Pex5l	T	A	3: 33,047,152 (GRCm39)		probably null	Het
Rasa4	T	C	5: 136,120,625 (GRCm39)	V87A	probably damaging	Het
Rnf112	G	A	11: 61,341,293 (GRCm39)	H431Y	possibly damaging	Het
Slc25a30	A	G	14: 76,007,651 (GRCm39)	V118A	probably benign	Het
Slc4a7	T	A	14: 14,773,277 (GRCm38)	I872K	probably damaging	Het
Slc5a11	GGTGC	G	7: 122,838,595 (GRCm39)		probably null	Het
Sycp1	T	C	3: 102,726,214 (GRCm39)	E970G	probably damaging	Het
Tex15	T	A	8: 34,064,935 (GRCm39)	L1455*	probably null	Het
Tgfb2	T	A	1: 186,436,752 (GRCm39)	T74S	probably damaging	Het
Vmn2r65	A	T	7: 84,613,094 (GRCm39)	C42S	probably damaging	Het
Zbtb12	T	A	17: 35,114,455 (GRCm39)	I80N	probably damaging	Het

Other mutations in Brinp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Brinp3	APN	1	146,777,512 (GRCm39)	missense	probably damaging	0.99
IGL00503:Brinp3	APN	1	146,776,905 (GRCm39)	missense	probably benign
IGL01702:Brinp3	APN	1	146,627,735 (GRCm39)	splice site	probably benign
IGL01728:Brinp3	APN	1	146,707,289 (GRCm39)	splice site	probably null
IGL01733:Brinp3	APN	1	146,390,541 (GRCm39)	missense	probably benign	0.33
IGL01937:Brinp3	APN	1	146,776,878 (GRCm39)	missense	probably benign
IGL02020:Brinp3	APN	1	146,777,865 (GRCm39)	utr 3 prime	probably benign
IGL02082:Brinp3	APN	1	146,627,600 (GRCm39)	missense	probably damaging	1.00
IGL02365:Brinp3	APN	1	146,776,860 (GRCm39)	missense	probably benign	0.00
IGL02366:Brinp3	APN	1	146,577,481 (GRCm39)	missense	possibly damaging	0.84
IGL02565:Brinp3	APN	1	146,777,770 (GRCm39)	missense	probably damaging	0.98
IGL02999:Brinp3	APN	1	146,577,587 (GRCm39)	splice site	probably null
IGL03099:Brinp3	APN	1	146,777,835 (GRCm39)	missense	possibly damaging	0.91
PIT4283001:Brinp3	UTSW	1	146,777,161 (GRCm39)	missense	probably damaging	0.99
PIT4418001:Brinp3	UTSW	1	146,777,161 (GRCm39)	missense	probably damaging	0.99
R0021:Brinp3	UTSW	1	146,777,189 (GRCm39)	missense	probably benign	0.04
R0021:Brinp3	UTSW	1	146,777,189 (GRCm39)	missense	probably benign	0.04
R0266:Brinp3	UTSW	1	146,558,418 (GRCm39)	nonsense	probably null
R1468:Brinp3	UTSW	1	146,777,700 (GRCm39)	missense	probably benign	0.01
R1468:Brinp3	UTSW	1	146,777,700 (GRCm39)	missense	probably benign	0.01
R1522:Brinp3	UTSW	1	146,777,628 (GRCm39)	missense	probably damaging	0.99
R1596:Brinp3	UTSW	1	146,390,520 (GRCm39)	missense	probably benign
R1898:Brinp3	UTSW	1	146,776,987 (GRCm39)	missense	possibly damaging	0.93
R2036:Brinp3	UTSW	1	146,577,579 (GRCm39)	missense	possibly damaging	0.84
R2224:Brinp3	UTSW	1	146,777,658 (GRCm39)	nonsense	probably null
R2272:Brinp3	UTSW	1	146,777,142 (GRCm39)	missense	possibly damaging	0.93
R2291:Brinp3	UTSW	1	146,776,812 (GRCm39)	missense	possibly damaging	0.85
R2322:Brinp3	UTSW	1	146,577,492 (GRCm39)	missense	probably benign
R3918:Brinp3	UTSW	1	146,627,599 (GRCm39)	missense	probably damaging	0.99
R3939:Brinp3	UTSW	1	146,627,599 (GRCm39)	missense	probably damaging	0.99
R3940:Brinp3	UTSW	1	146,627,599 (GRCm39)	missense	probably damaging	0.99
R3941:Brinp3	UTSW	1	146,627,599 (GRCm39)	missense	probably damaging	0.99
R3942:Brinp3	UTSW	1	146,627,599 (GRCm39)	missense	probably damaging	0.99
R4095:Brinp3	UTSW	1	146,777,430 (GRCm39)	missense	possibly damaging	0.72
R4783:Brinp3	UTSW	1	146,603,378 (GRCm39)	intron	probably benign
R5009:Brinp3	UTSW	1	146,776,787 (GRCm39)	missense	probably benign	0.25
R5034:Brinp3	UTSW	1	146,603,458 (GRCm39)	intron	probably benign
R5166:Brinp3	UTSW	1	146,777,105 (GRCm39)	missense	probably damaging	0.96
R5372:Brinp3	UTSW	1	146,707,464 (GRCm39)	missense	probably damaging	1.00
R5472:Brinp3	UTSW	1	146,777,197 (GRCm39)	missense	possibly damaging	0.86
R5651:Brinp3	UTSW	1	146,577,537 (GRCm39)	missense	probably benign	0.01
R5681:Brinp3	UTSW	1	146,777,484 (GRCm39)	missense	probably benign	0.12
R6351:Brinp3	UTSW	1	146,777,323 (GRCm39)	missense	probably damaging	0.96
R6470:Brinp3	UTSW	1	146,777,644 (GRCm39)	missense	probably damaging	0.99
R6499:Brinp3	UTSW	1	146,777,431 (GRCm39)	missense	possibly damaging	0.86
R7078:Brinp3	UTSW	1	146,390,627 (GRCm39)	nonsense	probably null
R7223:Brinp3	UTSW	1	146,776,812 (GRCm39)	missense	possibly damaging	0.85
R7322:Brinp3	UTSW	1	146,558,426 (GRCm39)	nonsense	probably null
R7347:Brinp3	UTSW	1	146,777,824 (GRCm39)	missense	probably benign	0.22
R7375:Brinp3	UTSW	1	146,777,748 (GRCm39)	missense	possibly damaging	0.91
R7412:Brinp3	UTSW	1	146,777,748 (GRCm39)	missense	possibly damaging	0.91
R7532:Brinp3	UTSW	1	146,777,139 (GRCm39)	missense	probably damaging	0.98
R7562:Brinp3	UTSW	1	146,777,748 (GRCm39)	missense	possibly damaging	0.91
R7576:Brinp3	UTSW	1	146,777,301 (GRCm39)	missense	probably damaging	0.99
R7723:Brinp3	UTSW	1	146,577,409 (GRCm39)	missense	probably damaging	1.00
R7737:Brinp3	UTSW	1	146,558,332 (GRCm39)	missense	probably damaging	0.98
R7793:Brinp3	UTSW	1	146,622,306 (GRCm39)	missense	probably benign	0.20
R8334:Brinp3	UTSW	1	146,777,791 (GRCm39)	missense	probably damaging	0.99
R8401:Brinp3	UTSW	1	146,777,184 (GRCm39)	missense	probably benign	0.17
R9205:Brinp3	UTSW	1	146,777,827 (GRCm39)	missense	possibly damaging	0.57
R9328:Brinp3	UTSW	1	146,707,455 (GRCm39)	missense	probably damaging	0.98
R9602:Brinp3	UTSW	1	146,622,234 (GRCm39)	missense	probably damaging	1.00
X0060:Brinp3	UTSW	1	146,777,524 (GRCm39)	missense	probably benign	0.01
Z1176:Brinp3	UTSW	1	146,777,814 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCACTTTGACCCTGAAGCC -3'
(R):5'- GCCATCCAACGTTATTGACTG -3'

Sequencing Primer
(F):5'- TTGACCCTGAAGCCATTCGG -3'
(R):5'- TCCAACGTTATTGACTGATATAAGAC -3'

Posted On

2015-01-23