Mutagenetix > Incidental Mutation

Incidental Mutation 'R7793:Brinp3'

600005

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

045849-MU

Accession Numbers

Essential gene?

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

Stock #

R7793 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146371367-146778210 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146622306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 236 (N236S)

Ref Sequence

ENSEMBL: ENSMUSP00000074201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074622] [ENSMUST00000128345] [ENSMUST00000132847] [ENSMUST00000166814]

AlphaFold

Q499E0

Predicted Effect

probably benign
Transcript: ENSMUST00000074622
AA Change: N236S

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000074201
Gene: ENSMUSG00000035131
AA Change: N236S

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: ENSMUST00000132847
AA Change: N236S

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118552
Gene: ENSMUSG00000035131
AA Change: N236S

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Blast:MACPF	78	110	1e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000166814
AA Change: N236S

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126074
Gene: ENSMUSG00000035131
AA Change: N236S

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (94/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	G	7: 30,399,368 (GRCm39)	I54S	probably damaging	Het
2310002L09Rik	C	T	4: 73,861,172 (GRCm39)	V143M	probably benign	Het
Abca1	T	C	4: 53,042,367 (GRCm39)	I1902V	not run	Het
Apob	A	C	12: 8,058,124 (GRCm39)	D2202A	probably damaging	Het
Arhgap44	T	A	11: 64,900,750 (GRCm39)	S623C	probably damaging	Het
Arhgef7	T	A	8: 11,874,507 (GRCm39)	W713R	possibly damaging	Het
Axdnd1	A	C	1: 156,166,313 (GRCm39)		probably null	Het
Bcl9l	C	A	9: 44,420,994 (GRCm39)	H1467N	probably damaging	Het
Bcl9l	T	C	9: 44,420,263 (GRCm39)	M1223T	probably benign	Het
Bltp2	C	T	11: 78,164,031 (GRCm39)	P1124L	possibly damaging	Het
Cckbr	T	G	7: 105,082,798 (GRCm39)	L54V	probably benign	Het
Cd6	G	A	19: 10,775,722 (GRCm39)	Q246*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Ces3a	T	A	8: 105,782,293 (GRCm39)		probably null	Het
Cgnl1	T	A	9: 71,632,917 (GRCm39)	N145Y	probably damaging	Het
Col6a5	T	C	9: 105,775,934 (GRCm39)	D1707G	probably damaging	Het
Cyp2w1	A	G	5: 139,341,895 (GRCm39)	T103A	probably damaging	Het
Dip2a	A	T	10: 76,114,417 (GRCm39)	I1021N	probably benign	Het
Dnah2	T	C	11: 69,386,040 (GRCm39)	T981A	probably benign	Het
Dnah8	A	G	17: 31,074,918 (GRCm39)	I4546V	probably benign	Het
E2f8	A	C	7: 48,527,823 (GRCm39)	F106L	probably benign	Het
Ecpas	T	C	4: 58,853,150 (GRCm39)	N395S	probably damaging	Het
Eif4g1	G	A	16: 20,507,364 (GRCm39)	V1413I	probably benign	Het
Epha10	G	A	4: 124,808,246 (GRCm39)	V688I	probably benign	Het
Exoc2	A	T	13: 31,095,161 (GRCm39)	V245D	probably benign	Het
Eya4	T	A	10: 23,102,714 (GRCm39)	E23D	probably benign	Het
Fbxw10	T	A	11: 62,738,213 (GRCm39)	W36R	possibly damaging	Het
Gabbr1	G	A	17: 37,358,393 (GRCm39)	G44S	probably benign	Het
Gabrg3	T	A	7: 56,829,328 (GRCm39)	Q143L	probably benign	Het
Gm14412	A	C	2: 177,007,660 (GRCm39)	I78M	possibly damaging	Het
Gm7298	T	C	6: 121,737,563 (GRCm39)		probably null	Het
Hpse2	A	T	19: 43,376,509 (GRCm39)	L81Q	probably damaging	Het
Il18r1	A	G	1: 40,510,924 (GRCm39)	H3R	probably benign	Het
Kansl1l	T	C	1: 66,817,173 (GRCm39)	K396E	probably damaging	Het
Kbtbd3	T	A	9: 4,331,221 (GRCm39)	S532T	probably damaging	Het
Lrrtm4	T	C	6: 79,999,841 (GRCm39)	Y418H	probably damaging	Het
Mfng	G	A	15: 78,657,265 (GRCm39)	R70C	probably damaging	Het
Mx2	T	A	16: 97,348,083 (GRCm39)	I236K	probably damaging	Het
Mysm1	T	C	4: 94,853,369 (GRCm39)	Q410R	probably damaging	Het
Nlrp12	T	C	7: 3,294,030 (GRCm39)	N100S	probably benign	Het
Nlrp4b	T	A	7: 10,459,001 (GRCm39)	H773Q	probably benign	Het
Nlrp5	T	A	7: 23,123,343 (GRCm39)	S735T	possibly damaging	Het
Nt5c2	G	A	19: 46,880,020 (GRCm39)	R363W	probably benign	Het
Or12k8	A	G	2: 36,974,933 (GRCm39)	F276L	possibly damaging	Het
Or3a10	T	A	11: 73,935,614 (GRCm39)	H162L	possibly damaging	Het
Otud7b	A	T	3: 96,062,528 (GRCm39)	Y589F	probably benign	Het
P2rx1	T	A	11: 72,900,079 (GRCm39)	C165*	probably null	Het
Pax8	T	C	2: 24,319,609 (GRCm39)	D354G	possibly damaging	Het
Pdcd11	G	A	19: 47,094,871 (GRCm39)	V552I	probably benign	Het
Pde6c	G	T	19: 38,148,201 (GRCm39)	C485F	possibly damaging	Het
Pex5	T	C	6: 124,376,300 (GRCm39)	Y434C	probably benign	Het
Ppargc1a	T	C	5: 51,619,851 (GRCm39)		probably null	Het
Prss2	A	T	6: 41,501,886 (GRCm39)	D224V	possibly damaging	Het
Psd2	A	G	18: 36,136,032 (GRCm39)	N440S	probably benign	Het
Psmb3	T	A	11: 97,603,265 (GRCm39)	D159E	probably benign	Het
Ptgr2	T	G	12: 84,354,575 (GRCm39)	L252R	probably damaging	Het
Ptpro	A	T	6: 137,393,818 (GRCm39)	N829Y	probably damaging	Het
Rhobtb2	C	A	14: 70,034,280 (GRCm39)	R315L	probably benign	Het
Rimbp2	A	T	5: 128,866,759 (GRCm39)	V520D	possibly damaging	Het
Schip1	A	T	3: 68,401,911 (GRCm39)	Y24F	probably benign	Het
Sdha	A	T	13: 74,479,555 (GRCm39)	V432E	probably damaging	Het
Sez6	T	C	11: 77,868,426 (GRCm39)	L929P	probably damaging	Het
Shcbp1l	A	G	1: 153,323,571 (GRCm39)	I466V	probably benign	Het
Skor1	T	C	9: 63,052,167 (GRCm39)	S601G	probably damaging	Het
Slc6a7	A	C	18: 61,138,851 (GRCm39)	L219R	probably damaging	Het
Smok2a	T	C	17: 13,444,513 (GRCm39)	M30T	possibly damaging	Het
Sp8	A	G	12: 118,813,144 (GRCm39)	D333G	probably damaging	Het
Spp1	G	A	5: 104,588,200 (GRCm39)	D201N	probably damaging	Het
Sstr3	A	T	15: 78,424,588 (GRCm39)	L53Q	probably damaging	Het
Tacc2	T	A	7: 130,224,843 (GRCm39)	N509K	probably benign	Het
Tdrd1	T	C	19: 56,852,809 (GRCm39)	V1030A	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Tgm3	G	A	2: 129,854,330 (GRCm39)		probably null	Het
Tomm5	C	A	4: 45,106,651 (GRCm39)	L88F	unknown	Het
Trak1	T	A	9: 121,245,264 (GRCm39)	C46*	probably null	Het
Trim8	A	T	19: 46,504,053 (GRCm39)	D535V	probably damaging	Het
Trpm7	A	T	2: 126,665,995 (GRCm39)	Y870*	probably null	Het
Tspoap1	T	C	11: 87,655,136 (GRCm39)	L286P	probably benign	Het
Ttll3	AAGTA	AAGTAGAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,562,389 (GRCm39)	I28819F	probably damaging	Het
Twf2	T	C	9: 106,089,079 (GRCm39)	S89P	probably damaging	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Unc13b	T	A	4: 43,172,737 (GRCm39)	N1188K	unknown	Het
Utp6	C	T	11: 79,828,556 (GRCm39)	V528I	probably benign	Het
Vmn1r78	T	C	7: 11,887,241 (GRCm39)	F284S	probably benign	Het
Vmn2r54	T	A	7: 12,366,196 (GRCm39)	Q246L	probably damaging	Het
Vmn2r87	A	G	10: 130,313,413 (GRCm39)	M451T	probably benign	Het
Vwf	C	T	6: 125,663,483 (GRCm39)	P2808L		Het
Wdr97	T	C	15: 76,243,307 (GRCm39)	L989P		Het
Wwc1	T	C	11: 35,759,936 (GRCm39)	Q693R	probably benign	Het
Zfp582	C	T	7: 6,356,886 (GRCm39)	S233L	probably damaging	Het
Zfp658	T	A	7: 43,224,108 (GRCm39)	H794Q	possibly damaging	Het
Zfp882	A	G	8: 72,666,985 (GRCm39)	D8G	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
R2880:Brinp3	UTSW	1	146,777,740 (GRCm39)	missense	probably damaging	0.98
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
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'- AGTTTCAGAAAAGCATACTCAACAG -3'
(R):5'- CAACTTATTTGGTTGATGGTCTAGATC -3'

Sequencing Primer
(F):5'- AGAAAAGCATACTCAACAGAAAGTAC -3'
(R):5'- TTGCAGATGTCTCAGAACCCTAGG -3'

Posted On

2019-11-26