Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02679:Or51h1'

303278

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or51h1

Ensembl Gene

ENSMUSG00000073970

Gene Name

olfactory receptor family 51 subfamily H member 1

Synonyms

MOR10-1, GA_x6K02T2PBJ9-5375442-5376389, Olfr555

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL02679

Quality Score

Status

Chromosome

Chromosomal Location

102308030-102308977 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102308384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 119 (M119V)

Ref Sequence

ENSEMBL: ENSMUSP00000095823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098220]

AlphaFold

E9Q547

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098220
AA Change: M119V

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095823
Gene: ENSMUSG00000073970
AA Change: M119V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	311	2.5e-126	PFAM
Pfam:7TM_GPCR_Srsx	36	308	1.7e-7	PFAM
Pfam:7tm_1	42	293	1.2e-19	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930442H23Rik	T	A	10: 81,018,813 (GRCm39)		probably benign	Het
Adam5	A	T	8: 25,296,542 (GRCm39)	Y302N	probably damaging	Het
Ankrd34c	A	T	9: 89,612,132 (GRCm39)	Y70N	probably damaging	Het
Asph	G	A	4: 9,601,349 (GRCm39)	P190S	possibly damaging	Het
Atp6v1h	T	C	1: 5,194,525 (GRCm39)	C235R	probably damaging	Het
Brwd1	A	G	16: 95,804,023 (GRCm39)	L2049P	probably benign	Het
Capn2	T	A	1: 182,300,149 (GRCm39)	I614F	probably benign	Het
Ccdc126	T	A	6: 49,310,995 (GRCm39)	M1K	probably null	Het
Cdh9	T	C	15: 16,832,316 (GRCm39)	I401T	probably damaging	Het
Cep57l1	T	C	10: 41,605,382 (GRCm39)	E121G	probably damaging	Het
Cfap46	A	G	7: 139,194,386 (GRCm39)	I2276T	probably damaging	Het
Cnnm3	T	C	1: 36,559,239 (GRCm39)	S490P	probably benign	Het
D430041D05Rik	C	T	2: 104,060,650 (GRCm39)	V731I	possibly damaging	Het
Dynlt2b	T	C	16: 32,244,125 (GRCm39)	V107A	possibly damaging	Het
Fgf3	C	A	7: 144,394,487 (GRCm39)	N100K	probably damaging	Het
Gas7	G	A	11: 67,566,553 (GRCm39)		probably null	Het
Gfm1	C	T	3: 67,382,100 (GRCm39)	P725S	possibly damaging	Het
Gimap4	T	A	6: 48,667,429 (GRCm39)	C61*	probably null	Het
Greb1	C	T	12: 16,758,724 (GRCm39)	R664Q	probably damaging	Het
Kpnb1	T	A	11: 97,068,086 (GRCm39)	I295F	possibly damaging	Het
Lamc3	A	G	2: 31,835,410 (GRCm39)	E1577G	probably benign	Het
Lrrk1	C	T	7: 65,924,620 (GRCm39)	V235M	probably damaging	Het
Meak7	A	T	8: 120,499,149 (GRCm39)	D114E	probably benign	Het
Mipol1	T	A	12: 57,352,829 (GRCm39)	V56E	possibly damaging	Het
Mycbp2	T	C	14: 103,442,621 (GRCm39)	I1927V	probably benign	Het
Ncaph	A	T	2: 126,966,784 (GRCm39)	N223K	possibly damaging	Het
Nipbl	A	G	15: 8,325,037 (GRCm39)	M2542T	probably benign	Het
Nolc1	C	A	19: 46,071,468 (GRCm39)		probably benign	Het
Or10j5	G	A	1: 172,784,743 (GRCm39)	C127Y	probably damaging	Het
Pkhd1l1	T	C	15: 44,393,441 (GRCm39)		probably null	Het
Ppat	A	T	5: 77,067,316 (GRCm39)	C306S	probably benign	Het
Ptpn13	A	T	5: 103,717,320 (GRCm39)	M1821L	possibly damaging	Het
Rabl3	C	T	16: 37,362,287 (GRCm39)	S42L	probably damaging	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rfx3	G	A	19: 27,827,137 (GRCm39)	H150Y	possibly damaging	Het
Rngtt	A	G	4: 33,356,098 (GRCm39)	M312V	possibly damaging	Het
Slc10a2	T	A	8: 5,148,499 (GRCm39)	T149S	probably damaging	Het
Spata21	T	C	4: 140,838,576 (GRCm39)		probably benign	Het
Stx8	G	T	11: 67,860,598 (GRCm39)	W6C	probably damaging	Het
Tcn2	T	C	11: 3,877,504 (GRCm39)	E48G	possibly damaging	Het
Tecpr1	A	T	5: 144,143,364 (GRCm39)	N670K	probably benign	Het
Tmem255b	G	A	8: 13,507,055 (GRCm39)	M240I	probably benign	Het
Ubr4	G	A	4: 139,186,445 (GRCm39)	E651K	probably damaging	Het
Ubr5	T	C	15: 38,002,558 (GRCm39)	T1498A	probably benign	Het
Vmn2r95	G	A	17: 18,664,116 (GRCm39)	C445Y	probably damaging	Het
Zfp429	T	A	13: 67,547,855 (GRCm39)		probably benign	Het
Zfp804b	T	G	5: 6,821,392 (GRCm39)	D557A	possibly damaging	Het

Other mutations in Or51h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Or51h1	APN	7	102,308,555 (GRCm39)	missense	probably damaging	0.98
IGL01150:Or51h1	APN	7	102,308,699 (GRCm39)	missense	probably benign	0.00
IGL02610:Or51h1	APN	7	102,308,774 (GRCm39)	missense	probably benign	0.41
R0332:Or51h1	UTSW	7	102,308,672 (GRCm39)	missense	probably damaging	0.99
R1493:Or51h1	UTSW	7	102,308,220 (GRCm39)	missense	probably damaging	1.00
R1631:Or51h1	UTSW	7	102,308,408 (GRCm39)	missense	probably damaging	1.00
R1682:Or51h1	UTSW	7	102,308,904 (GRCm39)	missense	probably damaging	0.96
R3026:Or51h1	UTSW	7	102,308,336 (GRCm39)	missense	possibly damaging	0.90
R3103:Or51h1	UTSW	7	102,308,688 (GRCm39)	missense	probably benign	0.00
R4592:Or51h1	UTSW	7	102,308,685 (GRCm39)	missense	probably damaging	0.99
R4782:Or51h1	UTSW	7	102,308,041 (GRCm39)	missense	possibly damaging	0.63
R6282:Or51h1	UTSW	7	102,308,854 (GRCm39)	missense	probably benign	0.00
R7571:Or51h1	UTSW	7	102,308,258 (GRCm39)	missense	probably damaging	1.00
R8001:Or51h1	UTSW	7	102,308,241 (GRCm39)	missense	probably damaging	1.00
R8440:Or51h1	UTSW	7	102,308,275 (GRCm39)	missense	probably damaging	0.98
R9087:Or51h1	UTSW	7	102,308,964 (GRCm39)	missense	probably benign
R9182:Or51h1	UTSW	7	102,308,927 (GRCm39)	missense	probably damaging	0.98
R9336:Or51h1	UTSW	7	102,308,199 (GRCm39)	missense	probably damaging	0.97
R9710:Or51h1	UTSW	7	102,308,441 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16