Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02452:Or51f1d'

293678

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or51f1d

Ensembl Gene

ENSMUSG00000073960

Gene Name

olfactory receptor family 51 subfamily F member 1D

Synonyms

Olfr583, GA_x6K02T2PBJ9-5762668-5763618, MOR14-6

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

102700507-102701466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102701138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 211 (D211G)

Ref Sequence

ENSEMBL: ENSMUSP00000095812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098211]

AlphaFold

Q8VG25

Predicted Effect

probably benign
Transcript: ENSMUST00000098211
AA Change: D211G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000095812
Gene: ENSMUSG00000073960
AA Change: D211G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	319	9.1e-107	PFAM
Pfam:7TM_GPCR_Srsx	45	316	1.4e-5	PFAM
Pfam:7tm_1	50	301	9.6e-20	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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,647,607 (GRCm39)	V11F	probably damaging	Het
Alk	A	T	17: 72,209,620 (GRCm39)	Y941*	probably null	Het
Blm	A	T	7: 80,153,125 (GRCm39)		probably null	Het
Blvrb	T	C	7: 27,158,765 (GRCm39)	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,153,721 (GRCm39)	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 65,915,067 (GRCm39)	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,676,827 (GRCm39)	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,510,871 (GRCm39)	S131T	probably benign	Het
Dusp29	G	A	14: 21,752,990 (GRCm39)	T52I	probably damaging	Het
Dzip3	T	A	16: 48,758,900 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,208,274 (GRCm39)	S427P	probably damaging	Het
Fasn	A	T	11: 120,699,006 (GRCm39)	D2424E	probably benign	Het
Flrt2	G	A	12: 95,746,257 (GRCm39)	M198I	probably benign	Het
Gen1	A	T	12: 11,292,576 (GRCm39)	S404R	probably benign	Het
Gm11596	A	T	11: 99,683,806 (GRCm39)	C105S	unknown	Het
Hdlbp	A	T	1: 93,345,233 (GRCm39)	V714D	probably damaging	Het
Igkv4-80	A	G	6: 68,993,816 (GRCm39)	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,148,925 (GRCm39)	W76*	probably null	Het
Ikzf1	T	C	11: 11,698,545 (GRCm39)	L132P	probably damaging	Het
Kcna6	C	A	6: 126,715,443 (GRCm39)	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,769,580 (GRCm39)	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,304,347 (GRCm39)	D175E	probably damaging	Het
Lrrtm3	T	C	10: 63,923,815 (GRCm39)	K451E	probably damaging	Het
Mcm9	C	T	10: 53,417,653 (GRCm39)	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492 (GRCm39)	S475R	probably benign	Het
Mmp24	C	T	2: 155,657,708 (GRCm39)	R533C	probably damaging	Het
Moxd1	C	T	10: 24,158,650 (GRCm39)	P435S	probably damaging	Het
Mta2	T	A	19: 8,927,670 (GRCm39)	I497N	probably benign	Het
Mtus2	T	C	5: 148,014,473 (GRCm39)	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,486,907 (GRCm39)	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,548,662 (GRCm39)		probably null	Het
Nid1	A	T	13: 13,683,305 (GRCm39)	T1128S	probably benign	Het
Odad2	C	T	18: 7,129,461 (GRCm39)	E906K	probably damaging	Het
Pcdh12	G	A	18: 38,414,746 (GRCm39)	P793L	probably benign	Het
Pclo	A	T	5: 14,726,980 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,637,185 (GRCm39)	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,290,878 (GRCm39)	N656K	probably benign	Het
Ptprn	T	A	1: 75,234,813 (GRCm39)	H258L	probably benign	Het
Rab19	A	G	6: 39,366,732 (GRCm39)	T216A	probably benign	Het
Ryr3	A	C	2: 112,664,335 (GRCm39)	L1652W	probably damaging	Het
Six2	A	C	17: 85,992,806 (GRCm39)	S232R	possibly damaging	Het
Spag17	T	C	3: 99,934,707 (GRCm39)	V663A	probably benign	Het
Spag5	A	G	11: 78,195,449 (GRCm39)	N252S	probably benign	Het
Spata31e4	A	T	13: 50,857,113 (GRCm39)	H917L	probably damaging	Het
Sptb	C	T	12: 76,655,810 (GRCm39)		probably null	Het
Synj1	A	G	16: 90,758,253 (GRCm39)		probably benign	Het
Tekt2	T	C	4: 126,218,645 (GRCm39)	H36R	possibly damaging	Het
Tjp1	A	T	7: 64,962,403 (GRCm39)	M1258K	probably damaging	Het
Txnrd3	T	C	6: 89,651,777 (GRCm39)	*502Q	probably null	Het

Other mutations in Or51f1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02172:Or51f1d	APN	7	102,700,582 (GRCm39)	missense	probably benign	0.02
IGL02200:Or51f1d	APN	7	102,701,000 (GRCm39)	missense	probably benign
IGL02412:Or51f1d	APN	7	102,701,359 (GRCm39)	missense	probably benign	0.01
IGL02859:Or51f1d	APN	7	102,701,345 (GRCm39)	missense	probably benign	0.00
IGL03078:Or51f1d	APN	7	102,701,036 (GRCm39)	missense	probably damaging	1.00
R0675:Or51f1d	UTSW	7	102,700,909 (GRCm39)	missense	probably benign	0.22
R1474:Or51f1d	UTSW	7	102,701,288 (GRCm39)	missense	probably damaging	1.00
R1531:Or51f1d	UTSW	7	102,700,795 (GRCm39)	missense	probably benign	0.00
R1535:Or51f1d	UTSW	7	102,700,576 (GRCm39)	missense	probably benign	0.14
R1777:Or51f1d	UTSW	7	102,700,583 (GRCm39)	missense	probably benign	0.41
R1883:Or51f1d	UTSW	7	102,701,189 (GRCm39)	missense	probably benign	0.00
R1884:Or51f1d	UTSW	7	102,701,189 (GRCm39)	missense	probably benign	0.00
R2265:Or51f1d	UTSW	7	102,701,344 (GRCm39)	missense	probably benign	0.00
R2267:Or51f1d	UTSW	7	102,701,344 (GRCm39)	missense	probably benign	0.00
R2269:Or51f1d	UTSW	7	102,701,344 (GRCm39)	missense	probably benign	0.00
R2299:Or51f1d	UTSW	7	102,700,789 (GRCm39)	missense	probably damaging	0.99
R3802:Or51f1d	UTSW	7	102,701,372 (GRCm39)	missense	probably benign	0.05
R4239:Or51f1d	UTSW	7	102,701,003 (GRCm39)	missense	probably benign	0.17
R4426:Or51f1d	UTSW	7	102,701,018 (GRCm39)	missense	probably damaging	1.00
R5335:Or51f1d	UTSW	7	102,700,742 (GRCm39)	missense	probably damaging	1.00
R6048:Or51f1d	UTSW	7	102,700,526 (GRCm39)	missense	probably benign	0.00
R6270:Or51f1d	UTSW	7	102,700,538 (GRCm39)	missense	probably benign	0.27
R6837:Or51f1d	UTSW	7	102,700,929 (GRCm39)	nonsense	probably null
R7257:Or51f1d	UTSW	7	102,700,837 (GRCm39)	missense	probably benign	0.39
R8506:Or51f1d	UTSW	7	102,700,709 (GRCm39)	missense	probably damaging	1.00
R8947:Or51f1d	UTSW	7	102,701,315 (GRCm39)	missense	probably damaging	0.99
R9638:Or51f1d	UTSW	7	102,701,018 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16