Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03384:Vmn1r78'

420793

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn1r78

Ensembl Gene

ENSMUSG00000061602

Gene Name

vomeronasal 1 receptor 78

Synonyms

V1rg7

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL03384

Quality Score

Status

Chromosome

Chromosomal Location

12150257-12159959 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12153209 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 249 (Y249F)

Ref Sequence

ENSEMBL: ENSMUSP00000154797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078039] [ENSMUST00000228244] [ENSMUST00000228664]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078039
AA Change: Y249F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077186
Gene: ENSMUSG00000061602
AA Change: Y249F

Domain	Start	End	E-Value	Type
Pfam:TAS2R	3	304	5.7e-8	PFAM
Pfam:V1R	12	301	1.5e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209489

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228244
AA Change: Y249F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228664
AA Change: Y249F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	G	11: 72,195,847	I246T	possibly damaging	Het
Ablim2	C	T	5: 35,874,872	R614C	probably damaging	Het
B230118H07Rik	G	T	2: 101,585,263	T115N	probably benign	Het
B4galt7	T	C	13: 55,609,289	L265P	probably damaging	Het
Col4a4	C	T	1: 82,484,438	C1072Y	probably benign	Het
Cxcr2	T	C	1: 74,158,791	V148A	probably damaging	Het
Dnah14	G	A	1: 181,745,949	V2942M	probably benign	Het
Fam124b	T	A	1: 80,199,956	H442L	probably benign	Het
Haus6	T	C	4: 86,583,525	H703R	probably benign	Het
Ice1	T	C	13: 70,603,249	T1573A	probably benign	Het
Ighv1-31	A	G	12: 114,829,473	F48L	probably benign	Het
Iws1	C	A	18: 32,093,150	A697D	probably damaging	Het
Jhy	T	A	9: 40,960,932	N94Y	probably benign	Het
Kank2	C	T	9: 21,774,578	V667M	possibly damaging	Het
Mcam	G	A	9: 44,140,512		probably benign	Het
Muc5ac	A	T	7: 141,812,403	I2099F	possibly damaging	Het
Myo7a	T	C	7: 98,093,593	I410V	probably damaging	Het
Nub1	A	T	5: 24,697,427		probably benign	Het
Nub1	A	T	5: 24,697,426		probably null	Het
Olfr980	T	C	9: 40,006,470	T160A	probably benign	Het
Panx2	C	T	15: 89,068,119	A271V	possibly damaging	Het
Papss1	T	A	3: 131,579,352	H13Q	probably damaging	Het
Pkd1	A	G	17: 24,565,897	T438A	probably benign	Het
Ppdpf	T	C	2: 181,187,880	S43P	probably benign	Het
Ptchd4	T	A	17: 42,502,590	C461S	probably damaging	Het
Rapgef2	A	G	3: 79,083,546	F985S	probably damaging	Het
Rbm25	T	C	12: 83,659,523	I214T	probably benign	Het
Sgpp1	T	C	12: 75,716,106		probably benign	Het
Slc22a20	A	T	19: 5,980,374	C343*	probably null	Het
Slc22a22	T	C	15: 57,254,216	I310V	probably benign	Het
Slc6a13	T	C	6: 121,332,391	F287S	probably damaging	Het
Usp30	A	G	5: 114,121,574	D447G	probably damaging	Het
Vmn2r106	T	C	17: 20,268,143	T665A	probably damaging	Het
Vps37b	A	G	5: 124,007,607		probably null	Het
Wfdc1	T	A	8: 119,686,277	N198K	probably benign	Het

Other mutations in Vmn1r78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Vmn1r78	APN	7	12153238	missense	probably benign	0.10
IGL02019:Vmn1r78	APN	7	12152707	missense	probably damaging	0.99
IGL02143:Vmn1r78	APN	7	12152480	missense	probably benign
IGL02154:Vmn1r78	APN	7	12152545	missense	probably benign	0.22
IGL02290:Vmn1r78	APN	7	12153155	missense	probably damaging	1.00
IGL03012:Vmn1r78	APN	7	12153364	missense	probably benign	0.32
IGL03256:Vmn1r78	APN	7	12152798	missense	probably damaging	1.00
IGL03373:Vmn1r78	APN	7	12153343	missense	possibly damaging	0.86
R0016:Vmn1r78	UTSW	7	12153352	missense	probably benign	0.02
R1445:Vmn1r78	UTSW	7	12152581	missense	possibly damaging	0.64
R1748:Vmn1r78	UTSW	7	12153323	missense	probably damaging	1.00
R2017:Vmn1r78	UTSW	7	12153343	missense	possibly damaging	0.86
R2032:Vmn1r78	UTSW	7	12153283	missense	probably benign	0.00
R2198:Vmn1r78	UTSW	7	12152560	missense	probably benign	0.06
R4330:Vmn1r78	UTSW	7	12152459	splice site	probably null
R4564:Vmn1r78	UTSW	7	12152558	missense	probably damaging	1.00
R4769:Vmn1r78	UTSW	7	12152798	missense	probably damaging	1.00
R4801:Vmn1r78	UTSW	7	12152964	nonsense	probably null
R4802:Vmn1r78	UTSW	7	12152964	nonsense	probably null
R4860:Vmn1r78	UTSW	7	12152756	missense	probably damaging	1.00
R4860:Vmn1r78	UTSW	7	12152756	missense	probably damaging	1.00
R5648:Vmn1r78	UTSW	7	12152766	missense	possibly damaging	0.92
R6561:Vmn1r78	UTSW	7	12152899	missense	probably damaging	1.00
R6869:Vmn1r78	UTSW	7	12152749	missense	probably benign	0.01
R6945:Vmn1r78	UTSW	7	12152905	missense	probably benign	0.01
R7793:Vmn1r78	UTSW	7	12153314	missense	probably benign	0.01
R7954:Vmn1r78	UTSW	7	12153300	nonsense	probably null
Z1088:Vmn1r78	UTSW	7	12152714	missense	probably damaging	1.00

Posted On

2016-08-02