Mutagenetix > Incidental Mutations

Incidental Mutation 'R6463:Vmn2r28'

517684

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r28

Ensembl Gene

ENSMUSG00000066820

Gene Name

vomeronasal 2, receptor 28

Synonyms

EG665255

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R6463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5479531-5493967 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5486436 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 468 (H468L)

Ref Sequence

ENSEMBL: ENSMUSP00000083477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086297]

Predicted Effect

probably benign
Transcript: ENSMUST00000086297
AA Change: H468L

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083477
Gene: ENSMUSG00000066820
AA Change: H468L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	470	1.7e-26	PFAM
Pfam:NCD3G	512	565	9.8e-21	PFAM
Pfam:7tm_3	598	833	2.8e-56	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,938	H48L	probably damaging	Het
Aifm3	A	G	16: 17,500,789	I185V	probably benign	Het
Asb7	A	T	7: 66,660,236	D77E	probably damaging	Het
Cacna1i	T	C	15: 80,355,758	I336T	probably damaging	Het
Cadps2	A	T	6: 23,323,334	L1016*	probably null	Het
Ccdc129	A	G	6: 55,968,678	R795G	probably benign	Het
Cep63	C	A	9: 102,596,155	M504I	probably benign	Het
Chpf2	G	T	5: 24,589,526	L231F	probably damaging	Het
Cnot10	T	C	9: 114,625,902	Y221C	probably damaging	Het
Col3a1	G	A	1: 45,342,205		probably benign	Het
Csl	T	C	10: 99,759,098	D35G	probably damaging	Het
Csmd3	T	C	15: 47,676,479	Y2286C	probably damaging	Het
Dbt	A	G	3: 116,539,760	E293G	possibly damaging	Het
Ddx31	T	A	2: 28,847,513		probably null	Het
Dnm1	T	C	2: 32,309,591		probably benign	Het
Elfn1	A	G	5: 139,972,285	Y348C	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Epha5	T	A	5: 84,106,710	I657F	probably damaging	Het
Fbp1	A	G	13: 62,865,010	F123S	possibly damaging	Het
Hkdc1	T	C	10: 62,393,702	N732S	probably damaging	Het
Itfg1	A	G	8: 85,736,151	S448P	probably benign	Het
Izumo2	A	G	7: 44,709,074	K84R	probably benign	Het
Kbtbd3	A	G	9: 4,316,921	Y24C	probably benign	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Mdn1	T	C	4: 32,773,308	L5489P	probably damaging	Het
Mettl2	G	A	11: 105,132,581		probably null	Het
Mtr	T	C	13: 12,216,866	T651A	probably benign	Het
Naglu	A	G	11: 101,077,351		probably null	Het
Nkx6-1	G	T	5: 101,659,476	H347N	probably damaging	Het
Ntpcr	A	G	8: 125,736,104	E20G	probably benign	Het
Oas2	T	C	5: 120,734,981	R670G	probably null	Het
Olfr1208	T	C	2: 88,897,118	I160V	probably benign	Het
Olfr239	G	A	17: 33,199,638	V197I	probably benign	Het
Olfr698	C	G	7: 106,752,801	E196Q	probably benign	Het
Phldb2	A	C	16: 45,774,993	V902G	probably benign	Het
Rdh7	T	C	10: 127,885,781	R209G	probably benign	Het
Slc13a3	A	C	2: 165,445,653	L127R	probably damaging	Het
Slc6a20b	T	A	9: 123,604,949	I275F	possibly damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Tmx4	T	C	2: 134,620,639	Y124C	probably damaging	Het
Trh	A	T	6: 92,242,843	M164K	possibly damaging	Het
Trhr	A	G	15: 44,197,585	N167S	probably benign	Het
Ttll7	G	A	3: 146,931,582	R490Q	possibly damaging	Het
Uck1	T	C	2: 32,258,655	N100S	probably benign	Het
Ucp3	A	T	7: 100,480,269	T104S	probably benign	Het
Xaf1	G	A	11: 72,308,638	R67H	probably benign	Het
Ypel4	T	C	2: 84,736,743		probably benign	Het
Zfp687	A	G	3: 95,010,784	I559T	probably damaging	Het

Other mutations in Vmn2r28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Vmn2r28	APN	7	5488069	missense	probably benign	0.12
IGL01061:Vmn2r28	APN	7	5488184	missense	probably damaging	1.00
IGL01160:Vmn2r28	APN	7	5486478	missense	probably damaging	0.99
IGL01335:Vmn2r28	APN	7	5481088	missense	possibly damaging	0.67
IGL01532:Vmn2r28	APN	7	5486464	missense	probably benign	0.16
IGL01791:Vmn2r28	APN	7	5488162	missense	probably benign	0.00
IGL01875:Vmn2r28	APN	7	5481303	missense	probably benign	0.30
IGL02161:Vmn2r28	APN	7	5488124	missense	possibly damaging	0.88
IGL02499:Vmn2r28	APN	7	5490569	missense	probably damaging	0.98
IGL02858:Vmn2r28	APN	7	5481004	missense	probably damaging	0.99
IGL03061:Vmn2r28	APN	7	5484016	missense	probably damaging	0.98
R0288:Vmn2r28	UTSW	7	5488021	missense	probably damaging	1.00
R0361:Vmn2r28	UTSW	7	5493716	missense	probably benign	0.00
R0396:Vmn2r28	UTSW	7	5488514	missense	probably benign	0.05
R0480:Vmn2r28	UTSW	7	5490457	missense	probably benign	0.00
R0485:Vmn2r28	UTSW	7	5488690	missense	probably damaging	1.00
R0837:Vmn2r28	UTSW	7	5488027	missense	probably damaging	0.99
R1282:Vmn2r28	UTSW	7	5481302	missense	probably damaging	0.99
R1296:Vmn2r28	UTSW	7	5481545	missense	possibly damaging	0.81
R1829:Vmn2r28	UTSW	7	5493811	missense	probably benign
R1853:Vmn2r28	UTSW	7	5481247	nonsense	probably null
R1869:Vmn2r28	UTSW	7	5486346	missense	probably benign	0.00
R1887:Vmn2r28	UTSW	7	5488289	missense	possibly damaging	0.90
R1961:Vmn2r28	UTSW	7	5481071	missense	possibly damaging	0.85
R1998:Vmn2r28	UTSW	7	5488314	missense	possibly damaging	0.87
R2392:Vmn2r28	UTSW	7	5484131	missense	probably damaging	0.98
R2432:Vmn2r28	UTSW	7	5488702	missense	probably damaging	0.99
R3055:Vmn2r28	UTSW	7	5481392	missense	probably damaging	0.98
R3753:Vmn2r28	UTSW	7	5488027	missense	probably damaging	0.99
R3877:Vmn2r28	UTSW	7	5488358	missense	probably damaging	1.00
R4307:Vmn2r28	UTSW	7	5490708	missense	probably damaging	0.99
R5023:Vmn2r28	UTSW	7	5486464	missense	probably benign	0.16
R5057:Vmn2r28	UTSW	7	5486464	missense	probably benign	0.16
R5083:Vmn2r28	UTSW	7	5480672	missense	possibly damaging	0.77
R5427:Vmn2r28	UTSW	7	5486377	missense	probably damaging	0.99
R5472:Vmn2r28	UTSW	7	5487944	critical splice donor site	probably null
R5511:Vmn2r28	UTSW	7	5484012	missense	possibly damaging	0.61
R5731:Vmn2r28	UTSW	7	5488669	missense	probably benign	0.41
R6091:Vmn2r28	UTSW	7	5493791	missense	possibly damaging	0.88
R6179:Vmn2r28	UTSW	7	5488004	nonsense	probably null
R6276:Vmn2r28	UTSW	7	5490731	missense	probably benign	0.01
R6441:Vmn2r28	UTSW	7	5488475	missense	probably benign	0.00
R6528:Vmn2r28	UTSW	7	5490685	missense	probably benign	0.12
R6725:Vmn2r28	UTSW	7	5488409	missense	probably benign	0.13
R6760:Vmn2r28	UTSW	7	5481230	missense	probably damaging	0.97
R6849:Vmn2r28	UTSW	7	5480807	missense	probably damaging	1.00
R7110:Vmn2r28	UTSW	7	5490734	missense	probably benign	0.06
R7146:Vmn2r28	UTSW	7	5481496	missense	probably benign	0.05
R7407:Vmn2r28	UTSW	7	5481309	missense	probably damaging	1.00
R7563:Vmn2r28	UTSW	7	5488201	missense	probably benign	0.00
R7611:Vmn2r28	UTSW	7	5481256	missense	probably benign	0.02
R7808:Vmn2r28	UTSW	7	5493679	missense	probably damaging	0.98
R7862:Vmn2r28	UTSW	7	5490614	missense	probably benign	0.00
R7945:Vmn2r28	UTSW	7	5490614	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACTTGAGAGTGTTTACTGCTATG -3'
(R):5'- CACACATGCGTTTGGTTCTGC -3'

Sequencing Primer
(F):5'- TGCTGTAGCCAACTCAAG -3'
(R):5'- CGTAGTTGCCTTTATTATGGAATCAG -3'

Posted On

2018-05-21