Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01697:Vmn1r178'

104294

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn1r178

Ensembl Gene

ENSMUSG00000062598

Gene Name

vomeronasal 1 receptor 178

Synonyms

V1rd13, LOC232959

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01697

Quality Score

Status

Chromosome

Chromosomal Location

23592954-23593868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23593114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 54 (I54N)

Ref Sequence

ENSEMBL: ENSMUSP00000154244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078593] [ENSMUST00000226450] [ENSMUST00000226489] [ENSMUST00000226640] [ENSMUST00000227993]

AlphaFold

Q8R2B6

Predicted Effect

probably damaging
Transcript: ENSMUST00000078593
AA Change: I54N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077666
Gene: ENSMUSG00000062598
AA Change: I54N

Domain	Start	End	E-Value	Type
Pfam:TAS2R	8	297	7.9e-11	PFAM
Pfam:7tm_1	15	283	2.5e-7	PFAM
Pfam:V1R	41	296	7.8e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226450
AA Change: I54N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000226489

Predicted Effect

probably benign
Transcript: ENSMUST00000226640

Predicted Effect

probably damaging
Transcript: ENSMUST00000227993
AA Change: I54N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,203,613 (GRCm39)		probably benign	Het
Arid2	A	C	15: 96,259,453 (GRCm39)		probably null	Het
Cadm1	C	A	9: 47,761,622 (GRCm39)	D435E	probably damaging	Het
Dagla	A	G	19: 10,248,562 (GRCm39)	F33L	probably benign	Het
Edrf1	A	G	7: 133,245,459 (GRCm39)	H199R	probably benign	Het
F5	T	A	1: 164,021,621 (GRCm39)	N1365K	probably benign	Het
Gipc2	T	G	3: 151,843,245 (GRCm39)	I131L	probably benign	Het
Gpc1	C	T	1: 92,786,132 (GRCm39)	S507F	possibly damaging	Het
Grid1	A	G	14: 35,031,214 (GRCm39)	D269G	probably benign	Het
Ighv12-3	A	T	12: 114,330,573 (GRCm39)	M1K	probably null	Het
Kif5b	T	C	18: 6,226,871 (GRCm39)	H129R	possibly damaging	Het
Lipo3	A	T	19: 33,536,965 (GRCm39)	C252S	probably damaging	Het
Mast4	A	C	13: 102,904,401 (GRCm39)	N645K	probably damaging	Het
Megf9	T	A	4: 70,351,709 (GRCm39)	T471S	possibly damaging	Het
Mmrn1	A	G	6: 60,953,477 (GRCm39)	D586G	possibly damaging	Het
Ninl	A	T	2: 150,781,867 (GRCm39)	L1206Q	probably damaging	Het
Oog2	T	A	4: 143,921,754 (GRCm39)	N221K	possibly damaging	Het
Or13a17	T	C	7: 140,271,565 (GRCm39)	V249A	possibly damaging	Het
Or5b96	T	A	19: 12,867,831 (GRCm39)	T37S	probably benign	Het
Or6c8b	C	A	10: 128,882,371 (GRCm39)	C187F	probably damaging	Het
Pik3ap1	G	A	19: 41,313,018 (GRCm39)	A365V	probably damaging	Het
Ppwd1	T	C	13: 104,356,972 (GRCm39)	E181G	probably benign	Het
Scaf11	A	C	15: 96,321,504 (GRCm39)		probably benign	Het
Skic3	C	T	13: 76,276,852 (GRCm39)	L479F	probably benign	Het
Skint7	T	A	4: 111,837,654 (GRCm39)		probably benign	Het
Sox14	T	C	9: 99,757,716 (GRCm39)	I8V	probably benign	Het
Spata31f3	T	A	4: 42,874,163 (GRCm39)	M2L	probably benign	Het
Stim1	A	T	7: 102,075,176 (GRCm39)		probably benign	Het
Ttll3	T	C	6: 113,376,690 (GRCm39)	S357P	probably benign	Het
Zdhhc2	T	C	8: 40,920,460 (GRCm39)		probably benign	Het

Other mutations in Vmn1r178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01781:Vmn1r178	APN	7	23,593,434 (GRCm39)	missense	probably damaging	1.00
IGL01934:Vmn1r178	APN	7	23,593,362 (GRCm39)	missense	probably damaging	1.00
IGL02571:Vmn1r178	APN	7	23,593,660 (GRCm39)	missense	probably damaging	0.99
IGL02727:Vmn1r178	APN	7	23,593,871 (GRCm39)	splice site	probably null
IGL03112:Vmn1r178	APN	7	23,593,086 (GRCm39)	missense	probably damaging	1.00
R0112:Vmn1r178	UTSW	7	23,593,609 (GRCm39)	missense	possibly damaging	0.93
R0830:Vmn1r178	UTSW	7	23,593,452 (GRCm39)	missense	possibly damaging	0.91
R1186:Vmn1r178	UTSW	7	23,593,317 (GRCm39)	nonsense	probably null
R1340:Vmn1r178	UTSW	7	23,593,281 (GRCm39)	missense	probably benign	0.34
R1640:Vmn1r178	UTSW	7	23,593,548 (GRCm39)	missense	possibly damaging	0.70
R1696:Vmn1r178	UTSW	7	23,593,625 (GRCm39)	missense	probably damaging	0.99
R1746:Vmn1r178	UTSW	7	23,593,329 (GRCm39)	missense	probably benign	0.00
R3084:Vmn1r178	UTSW	7	23,593,331 (GRCm39)	missense	possibly damaging	0.94
R4368:Vmn1r178	UTSW	7	23,593,447 (GRCm39)	missense	probably damaging	1.00
R5199:Vmn1r178	UTSW	7	23,593,814 (GRCm39)	missense	probably benign	0.11
R6380:Vmn1r178	UTSW	7	23,592,984 (GRCm39)	missense	possibly damaging	0.62
R7000:Vmn1r178	UTSW	7	23,593,762 (GRCm39)	missense	probably benign	0.21
R7142:Vmn1r178	UTSW	7	23,593,035 (GRCm39)	missense	probably damaging	1.00
R7268:Vmn1r178	UTSW	7	23,593,378 (GRCm39)	missense	probably benign	0.05
R8829:Vmn1r178	UTSW	7	23,593,264 (GRCm39)	missense	probably damaging	1.00
R8832:Vmn1r178	UTSW	7	23,593,264 (GRCm39)	missense	probably damaging	1.00
R9068:Vmn1r178	UTSW	7	23,593,404 (GRCm39)	missense	probably damaging	1.00
R9798:Vmn1r178	UTSW	7	23,593,733 (GRCm39)	nonsense	probably null

Posted On

2014-01-21