Mutagenetix > Incidental Mutations

Incidental Mutation 'R3928:Vmn1r183'

308367

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r183

Ensembl Gene

ENSMUSG00000066723

Gene Name

vomeronasal 1 receptor 183

Synonyms

LOC209824, V1rd15

MMRRC Submission

040823-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R3928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24054774-24055691 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24055572 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 267 (S267P)

Ref Sequence

ENSEMBL: ENSMUSP00000083176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086012]

Predicted Effect

probably damaging
Transcript: ENSMUST00000086012
AA Change: S267P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083176
Gene: ENSMUSG00000066723
AA Change: S267P

Domain	Start	End	E-Value	Type
Pfam:TAS2R	8	297	5.6e-15	PFAM
Pfam:7tm_1	31	285	1.4e-9	PFAM
Pfam:V1R	41	296	2.5e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205855

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	T	11: 76,468,735	H181Q	probably benign	Het
Atrx	T	C	X: 105,879,917	I157V	possibly damaging	Het
Birc6	A	G	17: 74,611,175	D1856G	possibly damaging	Het
Birc6	A	G	17: 74,638,409	T2811A	probably damaging	Het
Brsk2	T	C	7: 141,998,418	F108S	probably damaging	Het
Clasp2	C	A	9: 113,906,105	H1004N	probably benign	Het
Cntd1	G	A	11: 101,287,519	V315I	probably benign	Het
Col13a1	A	G	10: 61,867,525		probably benign	Het
Ctps	T	A	4: 120,541,896	H553L	probably benign	Het
Dpysl2	A	G	14: 66,824,431	I242T	possibly damaging	Het
Exoc3l	C	T	8: 105,290,917		probably benign	Het
Fam229a	A	G	4: 129,491,411		probably benign	Het
Fshr	C	T	17: 88,985,534	R572H	probably damaging	Het
Gm5501	A	G	18: 9,917,267		noncoding transcript	Het
Gmpr	A	G	13: 45,529,747	I165V	probably benign	Het
Gnat3	G	A	5: 18,003,894		probably benign	Het
H1foo	A	G	6: 115,948,796	K185E	probably benign	Het
H2-Q4	T	G	17: 35,379,690	L16R	unknown	Het
Hs2st1	T	C	3: 144,434,628	K311E	possibly damaging	Het
Kcnj15	A	G	16: 95,296,509	E330G	possibly damaging	Het
Kif3a	A	G	11: 53,570,614	K29E	probably benign	Het
Krtap4-1	A	G	11: 99,628,157	V9A	unknown	Het
Lmntd2	C	T	7: 141,211,204	G432S	probably damaging	Het
Me3	T	C	7: 89,833,690		probably benign	Het
Myo1d	G	T	11: 80,484,261	R996S	probably benign	Het
Myo9a	T	A	9: 59,895,283	W2018R	probably damaging	Het
Nphp3	G	T	9: 104,011,730	V265F	probably damaging	Het
Olfr1331	T	C	4: 118,868,982	L66P	probably damaging	Het
Olfr492	A	G	7: 108,323,025	I217T	probably benign	Het
Olfr894	T	C	9: 38,218,835	M1T	probably null	Het
Pgp	A	G	17: 24,471,341	E247G	probably damaging	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Plch1	G	A	3: 63,767,623	A202V	probably damaging	Het
Rbm11	G	A	16: 75,593,044		probably null	Het
Scg5	T	C	2: 113,791,885	K124R	probably damaging	Het
Serpina3j	A	T	12: 104,319,657	H357L	probably damaging	Het
St6gal2	A	G	17: 55,496,323	D353G	possibly damaging	Het
Tdpoz3	T	C	3: 93,826,909	I297T	possibly damaging	Het
Tdrd5	G	A	1: 156,300,778	T136I	probably benign	Het
Tfcp2l1	T	A	1: 118,669,476	I429K	possibly damaging	Het
Tnrc6c	C	T	11: 117,723,529	R838W	probably damaging	Het
Top1	T	C	2: 160,687,749		probably benign	Het
Trim61	A	G	8: 65,013,317	F431L	probably benign	Het
Trmo	C	T	4: 46,382,647	G150S	probably damaging	Het
Xirp2	T	A	2: 67,511,669	F1418Y	possibly damaging	Het
Zfp114	T	C	7: 24,181,042	V271A	possibly damaging	Het
Zfp710	A	G	7: 80,081,386	R104G	probably damaging	Het

Other mutations in Vmn1r183

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Vmn1r183	APN	7	24055224	missense	probably damaging	1.00
IGL01813:Vmn1r183	APN	7	24055560	missense	probably benign	0.19
IGL03377:Vmn1r183	APN	7	24055392	missense	possibly damaging	0.70
PIT4791001:Vmn1r183	UTSW	7	24054841	missense	probably damaging	0.99
R0463:Vmn1r183	UTSW	7	24055501	missense	probably damaging	1.00
R0616:Vmn1r183	UTSW	7	24054825	missense	probably benign	0.03
R0666:Vmn1r183	UTSW	7	24055176	missense	probably benign
R4425:Vmn1r183	UTSW	7	24055548	missense	probably benign	0.00
R4767:Vmn1r183	UTSW	7	24055106	frame shift	probably null
R4835:Vmn1r183	UTSW	7	24055139	missense	probably benign	0.07
R5267:Vmn1r183	UTSW	7	24055546	missense	possibly damaging	0.90
R5693:Vmn1r183	UTSW	7	24054802	missense	possibly damaging	0.94
R6291:Vmn1r183	UTSW	7	24055557	missense	possibly damaging	0.70
R6439:Vmn1r183	UTSW	7	24055279	missense	possibly damaging	0.73
R7073:Vmn1r183	UTSW	7	24055501	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCAGTGTCTCCATGGTAC -3'
(R):5'- GTAGTGTGAACCATGACTTGTTC -3'

Sequencing Primer
(F):5'- GGTACTTCTCCTCCGTAGACATCG -3'
(R):5'- TGTTCATGCAAAAGATGTTTAACAC -3'

Posted On

2015-04-17