Mutagenetix > Incidental Mutations

Incidental Mutation 'R4324:Vmn2r52'

323962

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r52

Ensembl Gene

ENSMUSG00000091930

Gene Name

vomeronasal 2, receptor 52

Synonyms

EG384534

MMRRC Submission

041095-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R4324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10158652-10176286 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10171013 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 300 (T300S)

Ref Sequence

ENSEMBL: ENSMUSP00000129352 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164918
AA Change: T300S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129352
Gene: ENSMUSG00000091930
AA Change: T300S

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afp	A	G	5: 90,507,905	D583G	probably benign	Het
Alg9	T	G	9: 50,805,343	H22Q	probably damaging	Het
Aqp6	G	A	15: 99,601,410	M1I	probably null	Het
Arhgef10	T	A	8: 14,940,335	I270N	possibly damaging	Het
Asb13	G	T	13: 3,645,012	R160L	possibly damaging	Het
Atg10	T	A	13: 91,040,966	D75V	probably damaging	Het
Atxn7l2	A	T	3: 108,205,832	D218E	probably damaging	Het
Ccdc191	A	G	16: 43,947,509	E624G	probably damaging	Het
Cdan1	T	C	2: 120,724,979	I760M	probably damaging	Het
Cdk14	T	A	5: 5,036,532	K263*	probably null	Het
Cdk5rap2	A	T	4: 70,353,614	I287N	probably damaging	Het
Cdkn2aip	A	T	8: 47,712,173	S168R	probably benign	Het
Dnah17	C	T	11: 118,094,213	V1555M	probably benign	Het
Dsel	T	C	1: 111,861,393	T471A	probably damaging	Het
Dzank1	T	C	2: 144,488,698	E478G	possibly damaging	Het
Enc1	T	C	13: 97,245,897	F305S	probably benign	Het
Epn1	T	A	7: 5,097,211	M441K	probably benign	Het
Fbxw24	C	T	9: 109,604,945		probably null	Het
Gad1	G	A	2: 70,589,830	D353N	probably damaging	Het
Ggcx	A	G	6: 72,428,820	S545G	probably benign	Het
H2-K1	C	T	17: 34,000,040	V30M	possibly damaging	Het
Hipk3	C	A	2: 104,446,571	V388L	probably damaging	Het
Krt82	T	A	15: 101,541,747	M505L	probably benign	Het
Man2a1	A	G	17: 64,666,793	I355V	probably benign	Het
Olfr473	C	T	7: 107,933,693	P58S	probably damaging	Het
Pcbp3	G	A	10: 76,763,343	R109*	probably null	Het
Pcgf1	T	C	6: 83,079,957		probably null	Het
Plekhm2	A	T	4: 141,631,857	V533E	possibly damaging	Het
Prss3	T	G	6: 41,373,845	D237A	probably benign	Het
Rnf125	G	A	18: 20,977,760	R25K	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Shc4	T	A	2: 125,678,750	M260L	probably benign	Het
Spag6l	T	C	16: 16,787,235	Y151C	probably benign	Het
Stac3	C	T	10: 127,503,249	P76S	probably damaging	Het
Trpc7	T	C	13: 56,887,356	I255V	probably damaging	Het
Ttn	T	C	2: 76,908,579	E3872G	probably benign	Het
Uqcrfs1	A	G	13: 30,541,158	V133A	probably benign	Het
Wipi1	A	T	11: 109,603,836	I57N	possibly damaging	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
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
R6103:Vmn2r52	UTSW	7	10171400	missense	probably benign	0.36
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'- TTACAGTTACATGCTGAGTCTTCAC -3'
(R):5'- CAAGGAAATTTGCTTTGCCTTTGTG -3'

Sequencing Primer
(F):5'- CACAGTTAAAATATTTCCACTCTGGC -3'
(R):5'- GCCTTTGTGAAAATGATAGGAATCTC -3'

Posted On

2015-06-24