Mutagenetix > Incidental Mutations

Incidental Mutation 'R6886:Vmn2r54'

536949

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r54

Ensembl Gene

ENSMUSG00000096593

Gene Name

vomeronasal 2, receptor 54

Synonyms

EG666085, Gm470, LOC232871, LOC385080

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R6886 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12615233-12636134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12632153 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 285 (F285L)

Ref Sequence

ENSEMBL: ENSMUSP00000083386 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000086210
AA Change: F285L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: F285L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp7b	A	T	8: 22,028,690	M44K	probably benign	Het
Bad	T	C	19: 6,951,334		probably benign	Het
Bbs12	A	G	3: 37,319,241	D61G	probably damaging	Het
Bcr	C	T	10: 75,153,937	R722C	probably damaging	Het
Carf	C	A	1: 60,136,254		probably null	Het
Ccdc181	A	G	1: 164,280,096	E116G	probably damaging	Het
Celsr1	A	G	15: 86,031,654	V706A	probably benign	Het
Col9a1	T	A	1: 24,185,345	S203T	unknown	Het
Ctsl	T	C	13: 64,365,147		probably null	Het
Exosc7	A	T	9: 123,135,958	E277D	probably benign	Het
Fam20b	A	T	1: 156,690,511	W238R	probably damaging	Het
Fanci	A	T	7: 79,420,342	H430L	possibly damaging	Het
Fstl4	A	G	11: 53,186,450	D678G	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,663,806		probably benign	Het
Gm11569	T	A	11: 99,798,421		probably benign	Het
Gm13084	A	G	4: 143,812,762	F54L	probably benign	Het
Igfn1	G	A	1: 135,973,460	R306W	probably damaging	Het
Il6	C	T	5: 30,018,203		probably benign	Het
Khdc1c	T	C	1: 21,369,525	L100P	possibly damaging	Het
Kif18a	G	A	2: 109,296,663	R314H	probably damaging	Het
Kif26b	A	C	1: 178,874,138	K694T	probably damaging	Het
Kndc1	A	G	7: 139,913,569	T484A	probably benign	Het
Lonrf1	T	C	8: 36,229,037		probably null	Het
Man1a2	C	T	3: 100,656,071	G169D	probably benign	Het
Med6	G	T	12: 81,591,385	D17E	probably damaging	Het
Neb	T	C	2: 52,220,224	K204R	probably damaging	Het
Nhlrc1	T	A	13: 47,013,776	N335I	possibly damaging	Het
Nlrp12	T	C	7: 3,240,683	M400V	probably benign	Het
Olfr1054	A	T	2: 86,333,064	C97*	probably null	Het
Olfr866	G	T	9: 20,027,132	H269N	probably benign	Het
Pkhd1	C	T	1: 20,347,280	S2549N	probably benign	Het
Rab4b	A	C	7: 27,172,956	L145R	probably damaging	Het
Rad50	T	C	11: 53,686,184	I526V	probably benign	Het
Rel	T	C	11: 23,744,304	H309R	probably benign	Het
Rnf2	G	T	1: 151,473,266	N34K	possibly damaging	Het
Serpina3m	G	T	12: 104,389,127	V18F	possibly damaging	Het
Serpinb9c	T	C	13: 33,150,327	K244R	probably benign	Het
Setbp1	T	A	18: 78,857,500	Y984F	probably damaging	Het
Slc12a5	T	A	2: 164,982,905	M410K	probably benign	Het
Smarca4	C	T	9: 21,658,831	A710V	probably damaging	Het
Snx19	C	A	9: 30,428,935	D456E	probably damaging	Het
Ssrp1	T	A	2: 85,039,936	D101E	probably benign	Het
Tax1bp1	A	T	6: 52,733,223	E162D	probably benign	Het
Tenm4	T	A	7: 96,797,392	M823K	possibly damaging	Het
Tesk1	A	G	4: 43,443,592	D53G	possibly damaging	Het
Tnrc6a	T	A	7: 123,187,445	S1577T	probably benign	Het
Tpr	A	G	1: 150,423,965	I1270V	probably benign	Het
Trp53bp2	T	C	1: 182,429,043		probably null	Het
Ube4a	A	T	9: 44,948,843	I307N	probably damaging	Het
Unc13b	A	G	4: 43,170,156		probably benign	Het
Vmn2r3	T	C	3: 64,259,506	K735E	probably damaging	Het
Vmn2r81	T	G	10: 79,268,154	S204A	possibly damaging	Het
Washc1	A	G	17: 66,119,066	D453G	probably damaging	Het
Zfp329	T	A	7: 12,810,098	I500L	probably benign	Het
Zfp516	A	G	18: 82,957,000	D441G	probably benign	Het
Zfp644	T	C	5: 106,637,911	T257A	possibly damaging	Het

Other mutations in Vmn2r54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Vmn2r54	APN	7	12631913	splice site	probably benign
IGL01778:Vmn2r54	APN	7	12632082	missense	probably benign	0.07
IGL01998:Vmn2r54	APN	7	12615300	missense	probably benign
IGL02028:Vmn2r54	APN	7	12632161	missense	probably damaging	1.00
IGL02064:Vmn2r54	APN	7	12615606	missense	probably benign	0.02
IGL02238:Vmn2r54	APN	7	12635983	missense	probably damaging	1.00
IGL03062:Vmn2r54	APN	7	12632428	missense	probably damaging	0.98
IGL03120:Vmn2r54	APN	7	12615387	missense	probably damaging	1.00
PIT4453001:Vmn2r54	UTSW	7	12629742	missense	probably benign	0.06
R0212:Vmn2r54	UTSW	7	12632497	missense	probably benign
R0360:Vmn2r54	UTSW	7	12615649	missense	probably damaging	1.00
R1646:Vmn2r54	UTSW	7	12632507	missense	probably damaging	1.00
R1673:Vmn2r54	UTSW	7	12616211	critical splice acceptor site	probably null
R1738:Vmn2r54	UTSW	7	12635888	missense	probably benign	0.00
R1856:Vmn2r54	UTSW	7	12632311	missense	probably benign
R2012:Vmn2r54	UTSW	7	12615877	missense	probably damaging	1.00
R2038:Vmn2r54	UTSW	7	12629710	missense	possibly damaging	0.94
R2160:Vmn2r54	UTSW	7	12615493	missense	probably benign	0.29
R2397:Vmn2r54	UTSW	7	12615651	missense	probably damaging	0.98
R2430:Vmn2r54	UTSW	7	12632006	missense	probably damaging	0.99
R2829:Vmn2r54	UTSW	7	12615690	missense	possibly damaging	0.62
R2975:Vmn2r54	UTSW	7	12635992	missense	possibly damaging	0.92
R3005:Vmn2r54	UTSW	7	12615294	missense	probably benign	0.28
R3725:Vmn2r54	UTSW	7	12632296	missense	probably benign	0.42
R4486:Vmn2r54	UTSW	7	12632272	nonsense	probably null
R4881:Vmn2r54	UTSW	7	12629671	missense	probably benign	0.00
R4907:Vmn2r54	UTSW	7	12616223	splice site	probably null
R5536:Vmn2r54	UTSW	7	12632416	missense	probably benign	0.03
R5637:Vmn2r54	UTSW	7	12615369	missense	probably benign	0.41
R5703:Vmn2r54	UTSW	7	12629667	missense	probably benign	0.22
R5769:Vmn2r54	UTSW	7	12615282	missense	possibly damaging	0.73
R5972:Vmn2r54	UTSW	7	12615352	missense	probably damaging	1.00
R5972:Vmn2r54	UTSW	7	12635947	missense	probably damaging	1.00
R5977:Vmn2r54	UTSW	7	12632216	missense	probably damaging	1.00
R6084:Vmn2r54	UTSW	7	12632278	missense	probably damaging	0.98
R6176:Vmn2r54	UTSW	7	12615981	missense	probably damaging	1.00
R6229:Vmn2r54	UTSW	7	12631956	missense	probably benign	0.00
R6371:Vmn2r54	UTSW	7	12615435	missense	probably damaging	1.00
R6374:Vmn2r54	UTSW	7	12615493	missense	probably damaging	1.00
R6804:Vmn2r54	UTSW	7	12629865	missense	probably benign
R7041:Vmn2r54	UTSW	7	12629824	missense	probably damaging	0.99
R7058:Vmn2r54	UTSW	7	12615795	missense	possibly damaging	0.70
R7113:Vmn2r54	UTSW	7	12616074	missense	probably damaging	1.00
R7124:Vmn2r54	UTSW	7	12622151	missense	probably benign	0.00
R7126:Vmn2r54	UTSW	7	12632161	missense	possibly damaging	0.91
R7236:Vmn2r54	UTSW	7	12631990	missense	possibly damaging	0.84
R7337:Vmn2r54	UTSW	7	12622117	missense	probably benign	0.00
R7406:Vmn2r54	UTSW	7	12616223	splice site	probably null
R7634:Vmn2r54	UTSW	7	12615703	missense	probably damaging	1.00
R7793:Vmn2r54	UTSW	7	12632269	missense	probably damaging	0.98
R8139:Vmn2r54	UTSW	7	12615816	missense	possibly damaging	0.92
R8158:Vmn2r54	UTSW	7	12615961	missense	probably damaging	1.00
R8179:Vmn2r54	UTSW	7	12632091	nonsense	probably null
R8440:Vmn2r54	UTSW	7	12616086	missense	possibly damaging	0.72
U24488:Vmn2r54	UTSW	7	12615429	missense	possibly damaging	0.84
X0066:Vmn2r54	UTSW	7	12615370	missense	probably damaging	1.00
Z1177:Vmn2r54	UTSW	7	12632108	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CATATTGTGCAGAGCATGGGC -3'
(R):5'- AGCTCATCCTACGTGGTTTACTG -3'

Sequencing Primer
(F):5'- CATGGGCAATGCTGTAGACAG -3'
(R):5'- TGGGTCAGCAAAGGCACTCTG -3'

Posted On

2018-10-18