Mutagenetix > Incidental Mutation

Incidental Mutation 'R4486:Vmn2r54'

331612

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r54

Ensembl Gene

ENSMUSG00000096593

Gene Name

vomeronasal 2, receptor 54

Synonyms

MMRRC Submission

041742-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R4486 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12349160-12374167 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 12366199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 245 (L245*)

Ref Sequence

ENSEMBL: ENSMUSP00000083386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086210]

AlphaFold

A0A3B2W422

Predicted Effect

probably null
Transcript: ENSMUST00000086210
AA Change: L245*

SMART Domains

Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: L245*

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	5	397	4.3e-58	PFAM
Pfam:NCD3G	442	495	2.2e-19	PFAM
Pfam:7tm_3	526	763	1.2e-54	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,062,486 (GRCm39)	V484A	probably damaging	Het
Adam22	A	T	5: 8,230,227 (GRCm39)		probably benign	Het
Adamts18	G	T	8: 114,439,825 (GRCm39)	P923T	probably benign	Het
Ank3	C	T	10: 69,837,804 (GRCm39)	T1604I	possibly damaging	Het
Armc10	A	G	5: 21,858,432 (GRCm39)	Q159R	probably damaging	Het
Arnt2	T	A	7: 83,924,553 (GRCm39)	T425S	probably benign	Het
B4galt3	A	G	1: 171,099,343 (GRCm39)	T36A	possibly damaging	Het
Bbx	A	G	16: 50,020,777 (GRCm39)	V799A	probably damaging	Het
Bud23	T	C	5: 135,092,779 (GRCm39)		probably null	Het
Cnga2	T	A	X: 71,049,733 (GRCm39)	F133I	possibly damaging	Het
Crispld1	A	G	1: 17,823,102 (GRCm39)	T390A	probably benign	Het
Cyp4f39	T	A	17: 32,702,428 (GRCm39)	D308E	probably damaging	Het
Dnah6	A	G	6: 73,015,729 (GRCm39)	V3584A	probably damaging	Het
Ecpas	A	G	4: 58,820,086 (GRCm39)		probably benign	Het
Frk	T	C	10: 34,484,377 (GRCm39)	I450T	probably benign	Het
Grm6	T	C	11: 50,750,816 (GRCm39)	S660P	probably damaging	Het
Hao2	T	A	3: 98,789,341 (GRCm39)	I116F	probably damaging	Het
Hyi	G	A	4: 118,219,674 (GRCm39)	G237D	probably damaging	Het
Jrkl	T	C	9: 13,245,376 (GRCm39)	N95S	probably benign	Het
Kifbp	A	G	10: 62,398,806 (GRCm39)		probably benign	Het
Nanog	T	C	6: 122,689,676 (GRCm39)		probably null	Het
Ngf	G	A	3: 102,428,015 (GRCm39)	D255N	probably damaging	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Or52e7	T	C	7: 104,684,510 (GRCm39)	F35S	probably benign	Het
Or6c76b	T	C	10: 129,692,567 (GRCm39)	F60S	probably damaging	Het
Pcdha3	T	C	18: 37,080,404 (GRCm39)	V382A	probably damaging	Het
Pla2g4c	T	A	7: 13,071,676 (GRCm39)	N165K	probably benign	Het
Rexo5	T	C	7: 119,424,800 (GRCm39)	I362T	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Rpusd2	T	C	2: 118,865,705 (GRCm39)	V134A	probably damaging	Het
Serpina1c	T	A	12: 103,863,259 (GRCm39)		probably null	Het
Slc6a19	A	T	13: 73,829,836 (GRCm39)	I606N	probably damaging	Het
Smchd1	T	C	17: 71,714,230 (GRCm39)	T878A	probably benign	Het
Tas2r143	A	G	6: 42,377,628 (GRCm39)	M153V	probably benign	Het
Thrb	G	T	14: 17,925,640 (GRCm38)	M1I	probably null	Het
Trbc2	A	G	6: 41,523,814 (GRCm39)		probably benign	Het
Trim37	T	A	11: 87,087,651 (GRCm39)	S587R	probably benign	Het
Ulbp1	T	A	10: 7,397,397 (GRCm39)	H151L	probably benign	Het
Vmn2r78	A	C	7: 86,569,959 (GRCm39)		probably null	Het
Xlr5b	T	C	X: 72,201,504 (GRCm39)		probably null	Het
Xrcc4	A	C	13: 90,140,707 (GRCm39)	S167R	possibly damaging	Het
Zfp994	C	T	17: 22,420,541 (GRCm39)	C136Y	probably damaging	Het

Other mutations in Vmn2r54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Vmn2r54	APN	7	12,365,840 (GRCm39)	splice site	probably benign
IGL01778:Vmn2r54	APN	7	12,366,009 (GRCm39)	missense	probably benign	0.07
IGL01998:Vmn2r54	APN	7	12,349,227 (GRCm39)	missense	probably benign
IGL02028:Vmn2r54	APN	7	12,366,088 (GRCm39)	missense	probably damaging	1.00
IGL02064:Vmn2r54	APN	7	12,349,533 (GRCm39)	missense	probably benign	0.02
IGL02238:Vmn2r54	APN	7	12,369,910 (GRCm39)	missense	probably damaging	1.00
IGL03062:Vmn2r54	APN	7	12,366,355 (GRCm39)	missense	probably damaging	0.98
IGL03120:Vmn2r54	APN	7	12,349,314 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Vmn2r54	UTSW	7	12,363,669 (GRCm39)	missense	probably benign	0.06
R0212:Vmn2r54	UTSW	7	12,366,424 (GRCm39)	missense	probably benign
R0360:Vmn2r54	UTSW	7	12,349,576 (GRCm39)	missense	probably damaging	1.00
R1646:Vmn2r54	UTSW	7	12,366,434 (GRCm39)	missense	probably damaging	1.00
R1673:Vmn2r54	UTSW	7	12,350,138 (GRCm39)	critical splice acceptor site	probably null
R1738:Vmn2r54	UTSW	7	12,369,815 (GRCm39)	missense	probably benign	0.00
R1856:Vmn2r54	UTSW	7	12,366,238 (GRCm39)	missense	probably benign
R2012:Vmn2r54	UTSW	7	12,349,804 (GRCm39)	missense	probably damaging	1.00
R2038:Vmn2r54	UTSW	7	12,363,637 (GRCm39)	missense	possibly damaging	0.94
R2160:Vmn2r54	UTSW	7	12,349,420 (GRCm39)	missense	probably benign	0.29
R2397:Vmn2r54	UTSW	7	12,349,578 (GRCm39)	missense	probably damaging	0.98
R2430:Vmn2r54	UTSW	7	12,365,933 (GRCm39)	missense	probably damaging	0.99
R2829:Vmn2r54	UTSW	7	12,349,617 (GRCm39)	missense	possibly damaging	0.62
R2975:Vmn2r54	UTSW	7	12,369,919 (GRCm39)	missense	possibly damaging	0.92
R3005:Vmn2r54	UTSW	7	12,349,221 (GRCm39)	missense	probably benign	0.28
R3725:Vmn2r54	UTSW	7	12,366,223 (GRCm39)	missense	probably benign	0.42
R4881:Vmn2r54	UTSW	7	12,363,598 (GRCm39)	missense	probably benign	0.00
R4907:Vmn2r54	UTSW	7	12,350,150 (GRCm39)	splice site	probably null
R5536:Vmn2r54	UTSW	7	12,366,343 (GRCm39)	missense	probably benign	0.03
R5637:Vmn2r54	UTSW	7	12,349,296 (GRCm39)	missense	probably benign	0.41
R5703:Vmn2r54	UTSW	7	12,363,594 (GRCm39)	missense	probably benign	0.22
R5769:Vmn2r54	UTSW	7	12,349,209 (GRCm39)	missense	possibly damaging	0.73
R5972:Vmn2r54	UTSW	7	12,369,874 (GRCm39)	missense	probably damaging	1.00
R5972:Vmn2r54	UTSW	7	12,349,279 (GRCm39)	missense	probably damaging	1.00
R5977:Vmn2r54	UTSW	7	12,366,143 (GRCm39)	missense	probably damaging	1.00
R6084:Vmn2r54	UTSW	7	12,366,205 (GRCm39)	missense	probably damaging	0.98
R6176:Vmn2r54	UTSW	7	12,349,908 (GRCm39)	missense	probably damaging	1.00
R6229:Vmn2r54	UTSW	7	12,365,883 (GRCm39)	missense	probably benign	0.00
R6371:Vmn2r54	UTSW	7	12,349,362 (GRCm39)	missense	probably damaging	1.00
R6374:Vmn2r54	UTSW	7	12,349,420 (GRCm39)	missense	probably damaging	1.00
R6804:Vmn2r54	UTSW	7	12,363,792 (GRCm39)	missense	probably benign
R6886:Vmn2r54	UTSW	7	12,366,080 (GRCm39)	missense	probably benign	0.02
R7041:Vmn2r54	UTSW	7	12,363,751 (GRCm39)	missense	probably damaging	0.99
R7058:Vmn2r54	UTSW	7	12,349,722 (GRCm39)	missense	possibly damaging	0.70
R7113:Vmn2r54	UTSW	7	12,350,001 (GRCm39)	missense	probably damaging	1.00
R7124:Vmn2r54	UTSW	7	12,356,078 (GRCm39)	missense	probably benign	0.00
R7126:Vmn2r54	UTSW	7	12,366,088 (GRCm39)	missense	possibly damaging	0.91
R7236:Vmn2r54	UTSW	7	12,365,917 (GRCm39)	missense	possibly damaging	0.84
R7337:Vmn2r54	UTSW	7	12,356,044 (GRCm39)	missense	probably benign	0.00
R7406:Vmn2r54	UTSW	7	12,350,150 (GRCm39)	splice site	probably null
R7634:Vmn2r54	UTSW	7	12,349,630 (GRCm39)	missense	probably damaging	1.00
R7793:Vmn2r54	UTSW	7	12,366,196 (GRCm39)	missense	probably damaging	0.98
R8139:Vmn2r54	UTSW	7	12,349,743 (GRCm39)	missense	possibly damaging	0.92
R8158:Vmn2r54	UTSW	7	12,349,888 (GRCm39)	missense	probably damaging	1.00
R8179:Vmn2r54	UTSW	7	12,366,018 (GRCm39)	nonsense	probably null
R8440:Vmn2r54	UTSW	7	12,350,013 (GRCm39)	missense	possibly damaging	0.72
R8712:Vmn2r54	UTSW	7	12,369,877 (GRCm39)	missense	probably benign	0.22
R8853:Vmn2r54	UTSW	7	12,349,782 (GRCm39)	missense	probably damaging	1.00
R8859:Vmn2r54	UTSW	7	12,363,702 (GRCm39)	missense	possibly damaging	0.70
R9146:Vmn2r54	UTSW	7	12,366,647 (GRCm39)	missense	probably benign	0.05
R9157:Vmn2r54	UTSW	7	12,366,055 (GRCm39)	missense	possibly damaging	0.93
R9344:Vmn2r54	UTSW	7	12,366,283 (GRCm39)	missense	probably benign
R9423:Vmn2r54	UTSW	7	12,349,441 (GRCm39)	missense	probably damaging	1.00
R9534:Vmn2r54	UTSW	7	12,366,093 (GRCm39)	missense	probably benign	0.03
R9632:Vmn2r54	UTSW	7	12,363,753 (GRCm39)	missense	possibly damaging	0.74
R9661:Vmn2r54	UTSW	7	12,349,166 (GRCm39)	missense	probably benign
R9710:Vmn2r54	UTSW	7	12,363,753 (GRCm39)	missense	possibly damaging	0.74
U24488:Vmn2r54	UTSW	7	12,349,356 (GRCm39)	missense	possibly damaging	0.84
X0066:Vmn2r54	UTSW	7	12,349,297 (GRCm39)	missense	probably damaging	1.00
Z1177:Vmn2r54	UTSW	7	12,366,035 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTCTCATTTCCTGTGCAGAAC -3'
(R):5'- TCAGTCCTTGGGGAAGATTGAAG -3'

Sequencing Primer
(F):5'- TGCAGAACTGGACACCCTCTG -3'
(R):5'- CCTTGGGGAAGATTGAAGAGACTGTC -3'

Posted On

2015-07-21