Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03083:Vmn1r54'

417941

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn1r54

Ensembl Gene

ENSMUSG00000047203

Gene Name

vomeronasal 1 receptor 54

Synonyms

V1ra9, VN7

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL03083

Quality Score

Status

Chromosome

Chromosomal Location

90246300-90271213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90269872 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 256 (I256T)

Ref Sequence

ENSEMBL: ENSMUSP00000154354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058039] [ENSMUST00000226921]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058039
AA Change: I256T

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063052
Gene: ENSMUSG00000047203
AA Change: I256T

Domain	Start	End	E-Value	Type
Pfam:TAS2R	11	307	1.2e-11	PFAM
Pfam:V1R	38	301	5.5e-94	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226921
AA Change: I256T

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,138,612		probably null	Het
Acadsb	A	C	7: 131,441,193		probably benign	Het
Ankk1	A	G	9: 49,421,866	L106P	probably benign	Het
Ankrd24	G	A	10: 81,638,649	A72T	probably benign	Het
Ankrd35	A	T	3: 96,684,801	Q801L	probably damaging	Het
Avil	A	G	10: 127,016,324	I659M	probably benign	Het
Ccnc	A	G	4: 21,742,683	D170G	possibly damaging	Het
Cfap57	T	C	4: 118,584,739	K711E	probably damaging	Het
Dctn1	T	C	6: 83,197,484		probably benign	Het
Dpp6	T	C	5: 27,709,550		probably null	Het
Efhb	A	T	17: 53,399,059	W817R	probably damaging	Het
Emilin3	G	A	2: 160,908,729	Q320*	probably null	Het
Fer1l4	A	G	2: 156,039,366		probably benign	Het
Fgf8	T	C	19: 45,737,228	N137S	probably damaging	Het
Fndc3b	T	C	3: 27,467,427	D533G	probably benign	Het
Fshb	A	G	2: 107,057,467	V69A	probably benign	Het
Galnt7	A	T	8: 57,526,189	H633Q	probably damaging	Het
Gm5458	A	G	14: 19,602,383		probably null	Het
Hfe2	T	A	3: 96,528,606	D393E	probably benign	Het
Hpca	A	C	4: 129,118,526	F72L	probably damaging	Het
Inpp5d	A	T	1: 87,711,141	D552V	probably damaging	Het
Lepr	C	T	4: 101,814,679	Q967*	probably null	Het
Lgr5	A	G	10: 115,453,032	V497A	probably benign	Het
Matr3	A	G	18: 35,572,418	K132R	probably damaging	Het
Mib1	T	G	18: 10,752,029		probably null	Het
Mios	T	A	6: 8,215,156	N117K	probably damaging	Het
Nab1	T	C	1: 52,490,270	D156G	probably benign	Het
Nfxl1	C	T	5: 72,540,662		probably benign	Het
Nutm2	G	A	13: 50,467,444	G15E	probably damaging	Het
Oca2	A	G	7: 56,295,484	H280R	probably benign	Het
Olfr118	C	A	17: 37,672,660	C212*	probably null	Het
Olfr464	T	C	11: 87,914,088	I273V	probably benign	Het
P2ry1	A	G	3: 61,004,315	T292A	probably benign	Het
Pcna	C	T	2: 132,251,753	E109K	probably benign	Het
Pidd1	A	G	7: 141,440,456		probably null	Het
Pitpnm2	T	C	5: 124,133,382	E376G	possibly damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Polr2a	T	C	11: 69,745,046		probably null	Het
Sbno2	A	T	10: 80,057,534	M1311K	probably damaging	Het
Senp7	A	G	16: 56,171,865	N701S	probably benign	Het
Sirpa	T	A	2: 129,629,928	I211N	probably damaging	Het
Slc9a4	A	G	1: 40,629,402	E735G	probably benign	Het
Sorbs1	C	T	19: 40,314,376	M790I	probably damaging	Het
Sult1e1	T	A	5: 87,590,124	M33L	probably benign	Het
Tapbpl	G	A	6: 125,228,228		probably null	Het
Top1	A	G	2: 160,703,578	T289A	probably damaging	Het
Trim58	T	A	11: 58,651,390	M392K	probably benign	Het
Uaca	A	G	9: 60,863,663	I371V	probably benign	Het
Wdr19	T	C	5: 65,230,976	I668T	probably benign	Het

Other mutations in Vmn1r54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01912:Vmn1r54	APN	6	90269460	missense	probably damaging	1.00
IGL02421:Vmn1r54	APN	6	90269151	missense	probably benign	0.01
IGL02535:Vmn1r54	APN	6	90269278	missense	possibly damaging	0.78
R0646:Vmn1r54	UTSW	6	90269653	missense	probably benign	0.00
R2047:Vmn1r54	UTSW	6	90269988	missense	probably damaging	1.00
R4409:Vmn1r54	UTSW	6	90269882	nonsense	probably null
R4467:Vmn1r54	UTSW	6	90269271	missense	probably damaging	1.00
R4812:Vmn1r54	UTSW	6	90269325	missense	probably benign	0.22
R5042:Vmn1r54	UTSW	6	90269440	missense	possibly damaging	0.53
R5555:Vmn1r54	UTSW	6	90269365	missense	probably benign	0.02
R6183:Vmn1r54	UTSW	6	90269290	missense	possibly damaging	0.61
R6393:Vmn1r54	UTSW	6	90269322	missense	probably benign	0.45
R7216:Vmn1r54	UTSW	6	90269665	missense	probably damaging	1.00
R7480:Vmn1r54	UTSW	6	90269178	missense	possibly damaging	0.58
R8413:Vmn1r54	UTSW	6	90269431	missense	probably damaging	1.00

Posted On

2016-08-02