Mutagenetix > Incidental Mutations

Incidental Mutation 'R0350:Vmn1r195'

29666

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r195

Ensembl Gene

ENSMUSG00000069296

Gene Name

vomeronasal 1 receptor 195

Synonyms

V1ri6

MMRRC Submission

038557-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R0350 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22270522-22281230 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22279233 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 291 (D291G)

Ref Sequence

ENSEMBL: ENSMUSP00000154274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091736] [ENSMUST00000228711]

Predicted Effect

probably damaging
Transcript: ENSMUST00000091736
AA Change: D291G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089330
Gene: ENSMUSG00000069296
AA Change: D291G

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:V1R	34	300	5.6e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121379

Predicted Effect

probably damaging
Transcript: ENSMUST00000228711
AA Change: D291G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	A	8: 9,987,600	Y66N	probably damaging	Het
Apol6	C	T	15: 77,050,947	Q139*	probably null	Het
Armh1	C	A	4: 117,215,556	E244*	probably null	Het
BC052040	T	C	2: 115,776,930	Y255H	possibly damaging	Het
Ccdc130	C	T	8: 84,260,648	E99K	probably damaging	Het
Cd1d1	A	T	3: 86,997,573	H219Q	probably benign	Het
Cdca2	A	G	14: 67,713,119	L121P	probably benign	Het
Cog4	T	A	8: 110,853,696	L133I	possibly damaging	Het
Csf1	T	C	3: 107,748,606	M370V	probably benign	Het
Ddi2	G	A	4: 141,685,523	T26M	probably benign	Het
Dhcr7	A	G	7: 143,837,770	D32G	probably damaging	Het
Exd1	T	C	2: 119,523,566	N337S	possibly damaging	Het
Flii	T	C	11: 60,721,857	D227G	probably damaging	Het
Gm11639	T	C	11: 104,690,880	V16A	probably benign	Het
Hsf1	A	G	15: 76,500,479	T485A	probably benign	Het
Igfn1	G	A	1: 135,956,767	R2614*	probably null	Het
Iqch	T	C	9: 63,500,876	T630A	probably benign	Het
Itgal	T	A	7: 127,322,081	D770E	probably damaging	Het
Mroh1	T	A	15: 76,432,249	V759E	probably damaging	Het
Mrps17	A	G	5: 129,718,145		probably benign	Het
Mtpap	A	G	18: 4,396,195	S496G	possibly damaging	Het
Nkd1	T	A	8: 88,585,216	Y39*	probably null	Het
Nmd3	A	G	3: 69,743,574	Y359C	probably damaging	Het
Nr1h3	G	A	2: 91,191,825	L153F	possibly damaging	Het
Nuf2	T	A	1: 169,513,543		probably null	Het
Olfr1218	T	A	2: 89,055,356	K23N	probably benign	Het
Olfr1272	T	C	2: 90,282,582		probably null	Het
Olfr870	A	T	9: 20,170,736	Y278*	probably null	Het
Pnn	T	C	12: 59,067,117		probably null	Het
Ppm1j	A	G	3: 104,783,371	D230G	probably benign	Het
Ppp1r15a	A	T	7: 45,523,018	L650Q	probably damaging	Het
Prss37	T	C	6: 40,514,959	E229G	probably damaging	Het
Rbm19	T	C	5: 120,128,307	V465A	possibly damaging	Het
Rubcnl	G	T	14: 75,040,891	V372F	probably damaging	Het
Sema6a	G	T	18: 47,270,718	D595E	probably benign	Het
Slc35c1	A	G	2: 92,459,032	F43S	probably damaging	Het
Slc39a5	C	T	10: 128,396,750		probably null	Het
Slco4c1	A	G	1: 96,828,849	F583L	probably benign	Het
Sox9	A	G	11: 112,784,876	Y297C	probably damaging	Het
Taf1b	A	G	12: 24,514,885	D167G	possibly damaging	Het
Trpm6	T	C	19: 18,883,957		probably null	Het
Uba6	A	C	5: 86,144,378	V402G	possibly damaging	Het
Usp43	T	C	11: 67,876,498	Y682C	probably damaging	Het
Xpr1	A	T	1: 155,330,468	F156Y	probably damaging	Het
Zfp318	T	A	17: 46,413,198	H2042Q	probably benign	Het
Zfp937	T	A	2: 150,239,302	D417E	possibly damaging	Het

Other mutations in Vmn1r195

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01751:Vmn1r195	APN	13	22279251	missense	probably benign	0.45
IGL01752:Vmn1r195	APN	13	22279251	missense	probably benign	0.45
IGL01780:Vmn1r195	APN	13	22279085	missense	probably benign	0.34
PIT4812001:Vmn1r195	UTSW	13	22278863	missense	probably benign	0.22
R0066:Vmn1r195	UTSW	13	22279239	missense	possibly damaging	0.94
R0066:Vmn1r195	UTSW	13	22279239	missense	possibly damaging	0.94
R0639:Vmn1r195	UTSW	13	22278941	missense	probably damaging	1.00
R0751:Vmn1r195	UTSW	13	22279011	missense	probably damaging	1.00
R1184:Vmn1r195	UTSW	13	22279011	missense	probably damaging	1.00
R1464:Vmn1r195	UTSW	13	22279178	missense	probably benign	0.01
R1464:Vmn1r195	UTSW	13	22279178	missense	probably benign	0.01
R1999:Vmn1r195	UTSW	13	22278764	missense	possibly damaging	0.83
R2150:Vmn1r195	UTSW	13	22278764	missense	possibly damaging	0.83
R4924:Vmn1r195	UTSW	13	22279019	missense	probably benign	0.03
R5190:Vmn1r195	UTSW	13	22278386	nonsense	probably null
R5522:Vmn1r195	UTSW	13	22278950	missense	probably damaging	1.00
R5621:Vmn1r195	UTSW	13	22278389	missense	probably benign	0.01
R6509:Vmn1r195	UTSW	13	22279109	missense	probably benign	0.45
R7288:Vmn1r195	UTSW	13	22279004	missense	probably damaging	1.00
R7291:Vmn1r195	UTSW	13	22278749	missense	probably damaging	1.00
R7428:Vmn1r195	UTSW	13	22278852	missense	probably benign	0.01
R7810:Vmn1r195	UTSW	13	22279074	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCGCTCCGTCTGTATAAACATCAC -3'
(R):5'- TGCACTGCAAGAGGTCCTGGATTG -3'

Sequencing Primer
(F):5'- GGCTTGCAAATAATGCCAGC -3'
(R):5'- TGGCCTTTGTTCAGATCACAG -3'

Posted On

2013-04-24