Mutagenetix > Incidental Mutations

Incidental Mutation 'R5749:Vmn2r52'

445913

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r52

Ensembl Gene

ENSMUSG00000091930

Gene Name

vomeronasal 2, receptor 52

Synonyms

EG384534

MMRRC Submission

043200-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10158652-10176286 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10159032 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 727 (D727N)

Ref Sequence

ENSEMBL: ENSMUSP00000129352 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164918
AA Change: D727N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129352
Gene: ENSMUSG00000091930
AA Change: D727N

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: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	G	A	11: 54,324,055		probably null	Het
Ankrd12	T	C	17: 65,986,096	S781G	probably benign	Het
Bicc1	A	G	10: 70,946,969	S523P	probably benign	Het
Ccdc163	T	A	4: 116,714,112	C44*	probably null	Het
Ccdc83	T	C	7: 90,223,948	T400A	probably damaging	Het
Cobl	A	G	11: 12,266,965	S426P	possibly damaging	Het
Cyhr1	A	C	15: 76,658,644		probably null	Het
Cyp2b19	T	C	7: 26,763,419	I242T	possibly damaging	Het
Efnb2	A	C	8: 8,639,347	C92G	probably damaging	Het
Fam90a1a	T	A	8: 21,963,041	S137R	possibly damaging	Het
Fbxo17	G	A	7: 28,737,472	R284H	probably damaging	Het
Fem1b	A	G	9: 62,797,006	L324P	probably damaging	Het
Fsd1	T	A	17: 55,995,849		probably null	Het
Gtpbp4	A	G	13: 8,995,947		probably null	Het
Ifi209	A	C	1: 173,637,327	I8L	probably damaging	Het
Itga8	T	C	2: 12,262,078	E182G	probably damaging	Het
Itsn1	T	A	16: 91,906,855	L87H	probably damaging	Het
Klk1b16	T	C	7: 44,140,786	I160T	probably benign	Het
Lbp	T	A	2: 158,319,753	V52D	probably damaging	Het
Med23	T	C	10: 24,888,449	V318A	possibly damaging	Het
Myo16	C	T	8: 10,413,245	S604L	probably benign	Het
Olfr1113	C	T	2: 87,212,943	T17I	probably benign	Het
Olfr1448	A	G	19: 12,920,225	V28A	probably benign	Het
Olfr1510	T	A	14: 52,410,504	M123L	probably damaging	Het
Olfr768	A	T	10: 129,093,097	N292K	probably damaging	Het
Pcdh8	T	C	14: 79,770,085	D346G	probably damaging	Het
Ppara	A	T	15: 85,789,028	D140V	probably benign	Het
Prlr	T	A	15: 10,328,718	D426E	probably benign	Het
Prss36	T	A	7: 127,933,642	I192F	probably damaging	Het
Psg25	T	C	7: 18,524,851	E300G	probably damaging	Het
Pxylp1	A	G	9: 96,856,371	F26L	possibly damaging	Het
Rapgef4	A	T	2: 72,242,757	T796S	probably damaging	Het
Stard9	A	G	2: 120,703,786	H3508R	probably damaging	Het
Tep1	T	A	14: 50,844,072	D1282V	possibly damaging	Het
Tgfbr3l	A	G	8: 4,249,310	E59G	probably damaging	Het
Tnik	T	C	3: 28,594,092	M431T	probably benign	Het
Tns3	A	T	11: 8,451,177	H1040Q	probably benign	Het
Usp10	G	A	8: 119,941,133	E58K	probably damaging	Het
Vmn2r23	A	G	6: 123,733,273	T512A	probably benign	Het
Vmn2r66	T	A	7: 85,006,771	K346*	probably null	Het
Vmn2r93	T	A	17: 18,298,284	F2I	probably benign	Het
Zfp697	T	C	3: 98,425,464	S69P	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
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'- GCCCTTTGTGCTATGGTAGAC -3'
(R):5'- TGGCCAAAACAGTCACTGTC -3'

Sequencing Primer
(F):5'- ACACTAGCATGCTGAAGGTC -3'
(R):5'- AAACAGTCACTGTCATTCTGGC -3'

Posted On

2016-11-21