Mutagenetix > Incidental Mutations

Incidental Mutation 'R6103:Vmn2r52'

485378

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r52

Ensembl Gene

ENSMUSG00000091930

Gene Name

vomeronasal 2, receptor 52

Synonyms

EG384534

MMRRC Submission

044253-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R6103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10158652-10176286 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10171400 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 171 (P171S)

Ref Sequence

ENSEMBL: ENSMUSP00000129352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164918]

Predicted Effect

probably benign
Transcript: ENSMUST00000164918
AA Change: P171S

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129352
Gene: ENSMUSG00000091930
AA Change: P171S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	8.1e-29	PFAM
Pfam:NCD3G	512	565	1.5e-19	PFAM
Pfam:7tm_3	596	833	1.1e-55	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	A	T	10: 43,532,920	Y76N	probably benign	Het
Abcc8	A	G	7: 46,119,021	S926P	possibly damaging	Het
Acacb	T	A	5: 114,245,881	M2157K	probably damaging	Het
Aco2	T	C	15: 81,913,251	V636A	probably benign	Het
Adgrf3	T	C	5: 30,196,267	Y51C	probably damaging	Het
Adprhl1	T	C	8: 13,222,055	T1568A	possibly damaging	Het
Ank1	T	A	8: 23,113,983	S937T	probably damaging	Het
Ankrd50	T	C	3: 38,454,429	E340G	probably damaging	Het
Avpr1b	C	T	1: 131,609,417	P90S	probably damaging	Het
Cacna2d3	T	C	14: 29,396,489	H159R	probably damaging	Het
Carmil3	A	T	14: 55,505,427	T1185S	probably benign	Het
Casp2	A	T	6: 42,279,880	R357S	probably damaging	Het
Ccdc34	A	G	2: 110,018,007	D47G	probably benign	Het
Cd109	A	G	9: 78,698,314		probably null	Het
Cd209d	T	C	8: 3,878,304	Y27C	probably damaging	Het
Cep350	T	A	1: 155,924,576	D1176V	probably benign	Het
Cpd	A	T	11: 76,799,799	S844T	probably benign	Het
Cyp4x1	A	G	4: 115,111,667	L380P	probably damaging	Het
Dscam	A	G	16: 96,825,581	V376A	probably benign	Het
Enam	T	A	5: 88,502,328	N565K	probably damaging	Het
Fam110c	G	A	12: 31,074,795	W252*	probably null	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Fgb	T	C	3: 83,043,863	D281G	probably benign	Het
Frem2	T	A	3: 53,549,788	T2048S	probably benign	Het
Fut8	A	T	12: 77,331,947		probably benign	Het
Glmp	T	C	3: 88,328,031	S238P	probably benign	Het
Gm35315	T	A	5: 110,078,271	Y434F	probably damaging	Het
Gnpnat1	A	G	14: 45,383,399	F71S	probably damaging	Het
Gpnmb	A	G	6: 49,042,886	R64G	possibly damaging	Het
Grxcr1	T	C	5: 68,166,204	F275S	possibly damaging	Het
Ift140	T	A	17: 25,093,126	C1314S	probably damaging	Het
Kif9	T	C	9: 110,489,849	I127T	possibly damaging	Het
Mmd2	A	G	5: 142,567,863		probably null	Het
Ms4a3	A	T	19: 11,639,218	V20D	possibly damaging	Het
Myh7b	A	G	2: 155,618,743	E272G	probably damaging	Het
Naaladl1	G	A	19: 6,108,713	G292S	probably damaging	Het
Notch2	T	A	3: 98,135,743	Y1475N	possibly damaging	Het
Obp2a	G	A	2: 25,700,151	E21K	probably damaging	Het
Olfr1019	A	G	2: 85,841,432	Y120H	probably damaging	Het
Osbpl10	T	A	9: 115,061,872	Y109*	probably null	Het
Plcd1	A	T	9: 119,072,041	W749R	probably benign	Het
Ptpro	A	G	6: 137,400,706	E718G	possibly damaging	Het
Rbm4	C	T	19: 4,787,919	R295H	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Setdb2	T	C	14: 59,409,532		probably null	Het
Slc25a18	C	A	6: 120,789,438	L131I	probably damaging	Het
Slc4a10	A	G	2: 62,234,465	H221R	probably damaging	Het
Tbc1d32	A	T	10: 56,150,883	W757R	probably damaging	Het
Tmem183a	C	A	1: 134,348,146	V331L	probably benign	Het
Try10	C	A	6: 41,356,550	H76Q	probably damaging	Het
Ttn	T	A	2: 76,918,255	H4150L	probably benign	Het
Vmn2r88	A	G	14: 51,415,369	T450A	probably benign	Het
Yipf7	A	T	5: 69,541,062	V34D	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zg16	A	G	7: 127,050,576	V71A	probably benign	Het

Other mutations in Vmn2r52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Vmn2r52	APN	7	10169096	missense	probably benign	0.30
IGL00328:Vmn2r52	APN	7	10171417	missense	probably benign	0.12
IGL00980:Vmn2r52	APN	7	10171090	missense	probably damaging	1.00
IGL01468:Vmn2r52	APN	7	10158941	missense	probably damaging	1.00
IGL01660:Vmn2r52	APN	7	10159180	missense	probably damaging	0.97
IGL02215:Vmn2r52	APN	7	10171102	missense	probably damaging	0.97
IGL03030:Vmn2r52	APN	7	10158872	missense	probably benign	0.12
IGL03212:Vmn2r52	APN	7	10159547	missense	possibly damaging	0.47
FR4589:Vmn2r52	UTSW	7	10159020	missense	probably damaging	0.97
PIT4283001:Vmn2r52	UTSW	7	10170829	missense	possibly damaging	0.89
R0184:Vmn2r52	UTSW	7	10159338	missense	probably damaging	1.00
R0190:Vmn2r52	UTSW	7	10171388	missense	probably benign	0.00
R0240:Vmn2r52	UTSW	7	10159400	missense	probably damaging	0.99
R0240:Vmn2r52	UTSW	7	10159400	missense	probably damaging	0.99
R0257:Vmn2r52	UTSW	7	10171055	nonsense	probably null
R0310:Vmn2r52	UTSW	7	10159466	missense	probably damaging	1.00
R1831:Vmn2r52	UTSW	7	10159488	missense	probably damaging	1.00
R1862:Vmn2r52	UTSW	7	10173406	missense	possibly damaging	0.94
R2484:Vmn2r52	UTSW	7	10169131	missense	probably damaging	0.96
R2510:Vmn2r52	UTSW	7	10170868	missense	probably benign
R3625:Vmn2r52	UTSW	7	10159178	missense	probably damaging	1.00
R3803:Vmn2r52	UTSW	7	10173512	missense	probably damaging	1.00
R4013:Vmn2r52	UTSW	7	10170676	missense	probably benign	0.00
R4283:Vmn2r52	UTSW	7	10170638	missense	possibly damaging	0.60
R4324:Vmn2r52	UTSW	7	10171013	missense	possibly damaging	0.94
R4578:Vmn2r52	UTSW	7	10170690	missense	probably damaging	1.00
R4806:Vmn2r52	UTSW	7	10159242	missense	probably damaging	1.00
R5083:Vmn2r52	UTSW	7	10159465	nonsense	probably null
R5249:Vmn2r52	UTSW	7	10176270	missense	probably benign
R5306:Vmn2r52	UTSW	7	10170745	missense	possibly damaging	0.88
R5332:Vmn2r52	UTSW	7	10169125	missense	probably benign	0.17
R5617:Vmn2r52	UTSW	7	10170934	missense	probably damaging	0.99
R5643:Vmn2r52	UTSW	7	10171132	missense	probably damaging	1.00
R5749:Vmn2r52	UTSW	7	10159032	missense	probably damaging	1.00
R5763:Vmn2r52	UTSW	7	10171304	missense	probably benign	0.01
R6148:Vmn2r52	UTSW	7	10171163	missense	probably benign	0.00
R6356:Vmn2r52	UTSW	7	10168999	missense	probably benign	0.01
R6412:Vmn2r52	UTSW	7	10171009	missense	probably benign
R6657:Vmn2r52	UTSW	7	10159163	missense	probably damaging	0.99
R6997:Vmn2r52	UTSW	7	10169071	missense	probably benign	0.06
R7395:Vmn2r52	UTSW	7	10170817	missense	probably benign	0.00
R7621:Vmn2r52	UTSW	7	10173347	missense	probably benign	0.00
R7691:Vmn2r52	UTSW	7	10159182	missense	probably damaging	0.97
R7852:Vmn2r52	UTSW	7	10158968	missense	probably damaging	1.00
R7908:Vmn2r52	UTSW	7	10162950	missense	probably benign
R7909:Vmn2r52	UTSW	7	10162950	missense	probably benign
R7912:Vmn2r52	UTSW	7	10162950	missense	probably benign
R7913:Vmn2r52	UTSW	7	10162950	missense	probably benign
R7938:Vmn2r52	UTSW	7	10159373	missense	probably benign	0.12
Z1176:Vmn2r52	UTSW	7	10171200	missense	probably damaging	0.97
Z1177:Vmn2r52	UTSW	7	10169190	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GGCATATGTGAAAATGTGAGAGATTCC -3'
(R):5'- GTTAAGGAGCTAAGCTTTCAGTTAC -3'

Sequencing Primer
(F):5'- CAAAGGCAAAGCAAATTTCCTTG -3'
(R):5'- GGAGCTAAGCTTTCAGTTACTATTAG -3'

Posted On

2017-08-16