Mutagenetix > Incidental Mutations

Incidental Mutation 'R7633:Vmn2r57'

589756

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r57

Ensembl Gene

ENSMUSG00000066537

Gene Name

vomeronasal 2, receptor 57

Synonyms

EG269902

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41399732-41448641 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41425089 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 517 (V517M)

Ref Sequence

ENSEMBL: ENSMUSP00000125817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094532] [ENSMUST00000165029]

Predicted Effect

probably benign
Transcript: ENSMUST00000094532

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165029
AA Change: V517M

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: V517M

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	77	471	1.4e-44	PFAM
Pfam:NCD3G	514	567	2.7e-23	PFAM
Pfam:7tm_3	600	835	1.8e-52	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	C	A	11: 58,447,478	M29I	probably benign	Het
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Acaca	A	G	11: 84,372,639	I2029V	probably benign	Het
Anks1b	A	C	10: 90,948,584	D1138A	probably damaging	Het
Atr	T	A	9: 95,947,118	V2508E	probably damaging	Het
C4b	C	T	17: 34,729,399		probably null	Het
C530008M17Rik	A	G	5: 76,857,520	E576G	unknown	Het
Cd46	A	T	1: 195,083,619	M146K	probably null	Het
Chp1	A	G	2: 119,560,745	I28V	probably benign	Het
Chrnb1	T	A	11: 69,792,873	R216W	probably damaging	Het
Clmn	G	A	12: 104,782,112	T392M	probably benign	Het
Dcxr	A	C	11: 120,726,453	L88R	probably benign	Het
Dedd	C	T	1: 171,338,910	P138L	probably benign	Het
Degs1	A	G	1: 182,279,698	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,815,780	D851G	possibly damaging	Het
Fam117b	A	G	1: 59,981,534	D521G	probably damaging	Het
Fam26d	G	A	10: 34,043,908	T121M	possibly damaging	Het
Gm14085	A	T	2: 122,486,680	R7S	probably null	Het
Gm21731	G	A	13: 120,240,840	W57*	probably null	Het
Gm6882	A	G	7: 21,427,652	V97A	probably damaging	Het
Hgs	A	T	11: 120,474,302	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,346,662	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,341,399		probably benign	Het
Ikbkb	T	C	8: 22,671,741	N377S	probably benign	Het
Intu	G	A	3: 40,654,253	G232S	probably damaging	Het
Mov10	A	G	3: 104,797,065	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,447,583	F194L	probably benign	Het
Notch3	A	T	17: 32,158,622	I160K	probably benign	Het
Nup155	C	G	15: 8,109,453	S3W	probably damaging	Het
Olfr1287	A	G	2: 111,449,622	I161V	probably benign	Het
Olfr284	A	G	15: 98,340,086	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,956,151	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,552,436	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,980,654	A200V	probably damaging	Het
Qrich2	A	T	11: 116,456,629	I1123K	unknown	Het
Rgs1	A	G	1: 144,248,477		probably null	Het
Skint7	T	A	4: 111,984,140	V259E	probably benign	Het
Slc25a3	A	T	10: 91,118,042		probably null	Het
Slco1a6	A	T	6: 142,145,755	I73N	probably damaging	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Spock2	G	A	10: 60,126,180	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,367,838	R185S	probably damaging	Het
Supt16	A	G	14: 52,197,099	Y18H	probably benign	Het
Synpo	G	A	18: 60,603,428	T482I	probably damaging	Het
Tmc6	G	T	11: 117,769,220	T694K	probably benign	Het
Trim59	T	A	3: 69,037,926	H27L	probably damaging	Het
Trpv2	G	A	11: 62,591,006		probably null	Het
Tyw5	A	T	1: 57,393,485	D117E	probably benign	Het
Usp17la	T	C	7: 104,861,147	Y320H	probably damaging	Het
Usp31	T	C	7: 121,658,962	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,843,023	T195S	probably damaging	Het
Yipf1	A	G	4: 107,318,996	N29S	probably benign	Het
Zfp954	A	T	7: 7,115,824	F240L	possibly damaging	Het

Other mutations in Vmn2r57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Vmn2r57	APN	7	41428785	missense	probably benign
IGL01108:Vmn2r57	APN	7	41427584	missense	probably benign	0.01
IGL01112:Vmn2r57	APN	7	41425043	missense	probably damaging	1.00
IGL01516:Vmn2r57	APN	7	41399946	missense	probably damaging	1.00
IGL01880:Vmn2r57	APN	7	41400195	missense	possibly damaging	0.73
IGL02117:Vmn2r57	APN	7	41400450	missense	probably benign	0.00
IGL02500:Vmn2r57	APN	7	41428226	missense	probably benign
IGL02801:Vmn2r57	APN	7	41448632	missense	probably benign	0.13
IGL02993:Vmn2r57	APN	7	41428074	missense	probably benign	0.04
IGL02996:Vmn2r57	APN	7	41399741	missense	probably benign	0.02
R0008:Vmn2r57	UTSW	7	41400652	missense	probably damaging	1.00
R0032:Vmn2r57	UTSW	7	41399733	splice site	probably null
R0305:Vmn2r57	UTSW	7	41427543	missense	probably benign	0.00
R0469:Vmn2r57	UTSW	7	41427792	missense	possibly damaging	0.58
R0510:Vmn2r57	UTSW	7	41427792	missense	possibly damaging	0.58
R0847:Vmn2r57	UTSW	7	41428801	missense	probably benign	0.00
R1025:Vmn2r57	UTSW	7	41427804	missense	probably benign	0.24
R1081:Vmn2r57	UTSW	7	41428211	missense	possibly damaging	0.47
R1479:Vmn2r57	UTSW	7	41427830	missense	possibly damaging	0.45
R1579:Vmn2r57	UTSW	7	41400124	missense	probably benign	0.38
R1764:Vmn2r57	UTSW	7	41400643	missense	probably damaging	1.00
R1848:Vmn2r57	UTSW	7	41428107	missense	probably damaging	1.00
R2006:Vmn2r57	UTSW	7	41448577	missense	probably benign	0.00
R2197:Vmn2r57	UTSW	7	41428825	critical splice acceptor site	probably null
R2242:Vmn2r57	UTSW	7	41428074	missense	probably benign	0.00
R2394:Vmn2r57	UTSW	7	41400195	missense	possibly damaging	0.73
R3937:Vmn2r57	UTSW	7	41428130	missense	probably damaging	0.97
R4193:Vmn2r57	UTSW	7	41428239	missense	probably benign
R4423:Vmn2r57	UTSW	7	41426640	missense	probably damaging	1.00
R4865:Vmn2r57	UTSW	7	41400468	missense	probably damaging	1.00
R4947:Vmn2r57	UTSW	7	41400495	missense	probably damaging	1.00
R5042:Vmn2r57	UTSW	7	41428662	missense	probably benign	0.06
R5084:Vmn2r57	UTSW	7	41426550	critical splice donor site	probably null
R5177:Vmn2r57	UTSW	7	41400240	missense	probably benign	0.31
R5192:Vmn2r57	UTSW	7	41427939	missense	probably damaging	0.96
R5289:Vmn2r57	UTSW	7	41399974	missense	probably damaging	0.99
R5745:Vmn2r57	UTSW	7	41448471	missense	possibly damaging	0.51
R6051:Vmn2r57	UTSW	7	41448472	missense	probably benign	0.00
R6155:Vmn2r57	UTSW	7	41428690	missense	probably benign	0.14
R6248:Vmn2r57	UTSW	7	41399860	missense	probably benign
R6381:Vmn2r57	UTSW	7	41428818	missense	probably benign	0.08
R7019:Vmn2r57	UTSW	7	41428665	missense	probably damaging	1.00
R7126:Vmn2r57	UTSW	7	41399794	missense	possibly damaging	0.93
R7146:Vmn2r57	UTSW	7	41448471	missense	possibly damaging	0.51
R7215:Vmn2r57	UTSW	7	41400286	missense	probably benign	0.00
R7432:Vmn2r57	UTSW	7	41426724	missense	probably benign	0.01
R7811:Vmn2r57	UTSW	7	41425015	nonsense	probably null
R8025:Vmn2r57	UTSW	7	41426759	missense	probably benign	0.00
R8332:Vmn2r57	UTSW	7	41400253	missense	probably benign	0.01
R8345:Vmn2r57	UTSW	7	41427544	missense	possibly damaging	0.81
R8360:Vmn2r57	UTSW	7	41400216	missense	probably damaging	1.00
R8738:Vmn2r57	UTSW	7	41427596	missense	probably benign	0.00
R8758:Vmn2r57	UTSW	7	41428739	missense	probably damaging	1.00
X0026:Vmn2r57	UTSW	7	41428125	missense	probably benign	0.03
X0026:Vmn2r57	UTSW	7	41428561	missense	possibly damaging	0.91
X0065:Vmn2r57	UTSW	7	41427971	missense	probably benign	0.09
Z1176:Vmn2r57	UTSW	7	41400498	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAACTACTGGGCAAGAGCTTATCTC -3'
(R):5'- GCATGGTATTGGGCCAAAATG -3'

Sequencing Primer
(F):5'- GAGCTTATCTCTTACTTATCTCCAGG -3'
(R):5'- CATGGTATTGGGCCAAAATGTAAAC -3'

Posted On

2019-10-24