Mutagenetix > Incidental Mutation

Incidental Mutation 'R0382:Brinp1'

31005

Institutional Source

Beutler Lab

Gene Symbol

Brinp1

Ensembl Gene

ENSMUSG00000028351

Gene Name

bone morphogenic protein/retinoic acid inducible neural specific 1

Synonyms

Fam5a, Dbc1, Dbccr1

MMRRC Submission

038588-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R0382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68679751-68872634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68680545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 662 (R662G)

Ref Sequence

ENSEMBL: ENSMUSP00000030036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030036]

AlphaFold

Q920P3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030036
AA Change: R662G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030036
Gene: ENSMUSG00000028351
AA Change: R662G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
MACPF	72	251	2.35e-46	SMART

Meta Mutation Damage Score

0.1650

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show increased adult neurogenesis in the subgranular zone of the dentate gyrus, altered neuronal differentiation in the hippocampus, and behavioral anomalies such as hyperactivity, reduced anxiety-like behaviors, poor social interaction, and a slight deficit in working memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,923,901 (GRCm39)	Q266L	probably benign	Het
Abca13	T	C	11: 9,586,650 (GRCm39)		probably benign	Het
Adap2	T	C	11: 80,069,211 (GRCm39)		probably benign	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Celsr3	C	A	9: 108,706,417 (GRCm39)	P967T	probably damaging	Het
Ces1b	T	C	8: 93,802,680 (GRCm39)		probably benign	Het
Ckm	T	C	7: 19,155,309 (GRCm39)	*382Q	probably null	Het
Clec14a	A	G	12: 58,315,403 (GRCm39)	V73A	probably damaging	Het
Cmya5	A	T	13: 93,229,256 (GRCm39)	V1944E	probably benign	Het
Col6a6	T	A	9: 105,632,754 (GRCm39)	D1473V	probably damaging	Het
Cttnbp2	A	G	6: 18,435,342 (GRCm39)	M172T	probably benign	Het
Dcaf12	T	C	4: 41,302,672 (GRCm39)	N161S	probably damaging	Het
Dnah17	T	C	11: 118,019,822 (GRCm39)	Y75C	probably damaging	Het
Efcab7	T	C	4: 99,758,966 (GRCm39)	V388A	possibly damaging	Het
Fat3	A	G	9: 15,871,052 (GRCm39)	C3780R	probably damaging	Het
Fbxl14	T	C	6: 119,458,021 (GRCm39)	*401R	probably null	Het
Fbxo5	G	T	10: 5,751,176 (GRCm39)	Y270*	probably null	Het
Fnbp1l	A	T	3: 122,364,602 (GRCm39)		probably benign	Het
Fstl3	T	C	10: 79,613,141 (GRCm39)	S3P	probably benign	Het
Gpatch1	T	C	7: 35,001,080 (GRCm39)	D309G	probably damaging	Het
Gstcd	A	T	3: 132,692,169 (GRCm39)	L582H	probably damaging	Het
Klk6	A	G	7: 43,478,669 (GRCm39)	D192G	probably benign	Het
Lrp6	A	G	6: 134,444,631 (GRCm39)	S1080P	probably damaging	Het
Lztfl1	T	C	9: 123,536,971 (GRCm39)		probably null	Het
Mov10l1	A	G	15: 88,869,796 (GRCm39)	Y59C	possibly damaging	Het
Natd1	C	T	11: 60,797,739 (GRCm39)	R62H	probably damaging	Het
Obscn	T	C	11: 58,931,132 (GRCm39)	T5835A	probably damaging	Het
Or4c31	A	T	2: 88,292,069 (GRCm39)	R147S	possibly damaging	Het
Or5j3	A	G	2: 86,128,937 (GRCm39)	Y259C	probably damaging	Het
Or6c66b	T	C	10: 129,376,883 (GRCm39)	I159T	probably benign	Het
Or7a38	T	A	10: 78,752,960 (GRCm39)	Y95*	probably null	Het
P2rx2	T	A	5: 110,489,045 (GRCm39)	E289V	probably benign	Het
Patl1	T	A	19: 11,902,596 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,080,591 (GRCm39)		probably benign	Het
Qrfpr	C	T	3: 36,235,118 (GRCm39)	C253Y	possibly damaging	Het
Rad21l	A	T	2: 151,487,363 (GRCm39)	D540E	probably damaging	Het
Rbm45	T	A	2: 76,200,555 (GRCm39)	I28N	possibly damaging	Het
Rnf170	A	T	8: 26,615,927 (GRCm39)		probably benign	Het
Sgsm3	G	A	15: 80,892,515 (GRCm39)	W280*	probably null	Het
Slc9a9	A	T	9: 94,567,270 (GRCm39)	H113L	probably benign	Het
Slc9b2	G	T	3: 135,024,183 (GRCm39)	C78F	probably damaging	Het
Slfn10-ps	T	A	11: 82,920,360 (GRCm39)		noncoding transcript	Het
Slfn8	T	A	11: 82,895,382 (GRCm39)	I475F	probably damaging	Het
Stox2	A	G	8: 47,656,319 (GRCm39)		probably benign	Het
Strbp	A	T	2: 37,490,838 (GRCm39)	N472K	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tmem39a	A	G	16: 38,411,760 (GRCm39)		probably benign	Het
Trpc4ap	A	G	2: 155,478,150 (GRCm39)	L664P	probably damaging	Het
Uap1	T	A	1: 169,989,051 (GRCm39)	M124L	probably benign	Het
Usp48	A	G	4: 137,348,529 (GRCm39)	N536S	probably benign	Het
Usp50	T	A	2: 126,619,848 (GRCm39)	I155F	probably damaging	Het
Utp4	T	C	8: 107,649,567 (GRCm39)	I672T	probably benign	Het
Vmn1r94	A	T	7: 19,901,578 (GRCm39)	M242K	possibly damaging	Het
Vmn2r45	T	G	7: 8,486,098 (GRCm39)	N397H	probably benign	Het
Vmn2r9	T	C	5: 108,995,463 (GRCm39)	Y395C	probably damaging	Het
Vps41	C	A	13: 19,011,897 (GRCm39)	H335N	probably benign	Het

Other mutations in Brinp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Brinp1	APN	4	68,681,084 (GRCm39)	missense	probably damaging	1.00
IGL01024:Brinp1	APN	4	68,680,731 (GRCm39)	missense	probably damaging	1.00
IGL02048:Brinp1	APN	4	68,681,379 (GRCm39)	missense	probably benign
IGL02115:Brinp1	APN	4	68,680,635 (GRCm39)	missense	probably benign	0.03
IGL02332:Brinp1	APN	4	68,823,121 (GRCm39)	missense	probably benign	0.00
IGL03115:Brinp1	APN	4	68,822,973 (GRCm39)	critical splice donor site	probably null
IGL02796:Brinp1	UTSW	4	68,680,427 (GRCm39)	missense	probably damaging	1.00
R0468:Brinp1	UTSW	4	68,681,013 (GRCm39)	missense	probably damaging	1.00
R1141:Brinp1	UTSW	4	68,711,215 (GRCm39)	missense	probably benign	0.00
R1164:Brinp1	UTSW	4	68,716,928 (GRCm39)	missense	probably benign
R1178:Brinp1	UTSW	4	68,680,790 (GRCm39)	missense	probably damaging	1.00
R1545:Brinp1	UTSW	4	68,681,192 (GRCm39)	missense	possibly damaging	0.67
R1672:Brinp1	UTSW	4	68,747,520 (GRCm39)	splice site	probably null
R1998:Brinp1	UTSW	4	68,680,790 (GRCm39)	missense	probably damaging	1.00
R2218:Brinp1	UTSW	4	68,680,952 (GRCm39)	missense	probably damaging	1.00
R2262:Brinp1	UTSW	4	68,747,591 (GRCm39)	missense	probably damaging	1.00
R2370:Brinp1	UTSW	4	68,681,184 (GRCm39)	missense	probably damaging	1.00
R4542:Brinp1	UTSW	4	68,680,329 (GRCm39)	missense	probably benign	0.00
R4617:Brinp1	UTSW	4	68,681,198 (GRCm39)	missense	possibly damaging	0.94
R4864:Brinp1	UTSW	4	68,717,123 (GRCm39)	missense	probably damaging	1.00
R5287:Brinp1	UTSW	4	68,711,201 (GRCm39)	missense	probably benign	0.04
R5403:Brinp1	UTSW	4	68,711,201 (GRCm39)	missense	probably benign	0.04
R5932:Brinp1	UTSW	4	68,711,178 (GRCm39)	missense	probably benign	0.00
R7106:Brinp1	UTSW	4	68,747,615 (GRCm39)	missense	probably benign	0.36
R7127:Brinp1	UTSW	4	68,711,260 (GRCm39)	missense	probably benign	0.00
R7398:Brinp1	UTSW	4	68,759,591 (GRCm39)	missense	probably benign
R7917:Brinp1	UTSW	4	68,823,190 (GRCm39)	start codon destroyed	probably null	0.04
R8164:Brinp1	UTSW	4	68,681,158 (GRCm39)	nonsense	probably null
R8369:Brinp1	UTSW	4	68,716,936 (GRCm39)	missense	possibly damaging	0.86
R8487:Brinp1	UTSW	4	68,747,692 (GRCm39)	missense	probably damaging	1.00
R9124:Brinp1	UTSW	4	68,747,582 (GRCm39)	missense	probably damaging	1.00
R9253:Brinp1	UTSW	4	68,711,083 (GRCm39)	missense	possibly damaging	0.86
Z1176:Brinp1	UTSW	4	68,716,988 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCGGTGCTTCAGCATACAGGAAAAC -3'
(R):5'- TGGGAGAAGATCCGTCTGCAAAAC -3'

Sequencing Primer
(F):5'- GCTTCAGCATACAGGAAAACAAGTC -3'
(R):5'- GCCAATGCTACAATTGGACTCTC -3'

Posted On

2013-04-24