Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02649:Or5k1'

302047

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5k1

Ensembl Gene

ENSMUSG00000049362

Gene Name

olfactory receptor family 5 subfamily K member 1

Synonyms

MOR184-3, GA_x54KRFPKG5P-54960233-54959268, Olfr173

Accession Numbers

Essential gene?

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

Stock #

IGL02649

Quality Score

Status

Chromosome

Chromosomal Location

58617142-58618305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58617713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 165 (R165S)

Ref Sequence

ENSEMBL: ENSMUSP00000145946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049940] [ENSMUST00000206205]

AlphaFold

E9QAT7

Predicted Effect

probably damaging
Transcript: ENSMUST00000049940
AA Change: R165S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052798
Gene: ENSMUSG00000049362
AA Change: R165S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.7e-52	PFAM
Pfam:7tm_1	41	290	9.7e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206205
AA Change: R165S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

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
Aanat	A	T	11: 116,486,472 (GRCm39)	I4F	probably benign	Het
Adamts17	T	G	7: 66,499,626 (GRCm39)		probably benign	Het
Adcy1	A	T	11: 7,117,156 (GRCm39)	M1008L	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atrnl1	T	G	19: 57,638,873 (GRCm39)		probably benign	Het
Brd3	T	A	2: 27,344,362 (GRCm39)	E456V	probably damaging	Het
Cabin1	A	T	10: 75,573,252 (GRCm39)	L712H	probably damaging	Het
Ccna1	T	A	3: 54,961,807 (GRCm39)	T38S	probably damaging	Het
Chadl	T	A	15: 81,580,059 (GRCm39)	I59F	probably benign	Het
Chmp3	T	C	6: 71,529,417 (GRCm39)	M27T	possibly damaging	Het
Clcn1	C	T	6: 42,275,763 (GRCm39)	T295I	probably damaging	Het
Col6a6	A	G	9: 105,604,369 (GRCm39)		probably null	Het
Dennd2a	T	A	6: 39,447,290 (GRCm39)	H776L	probably benign	Het
Dimt1	G	A	13: 107,085,219 (GRCm39)	R55K	probably benign	Het
Dlg5	T	A	14: 24,196,319 (GRCm39)	D1626V	probably damaging	Het
Dock10	T	A	1: 80,551,840 (GRCm39)	Y665F	probably damaging	Het
Hectd4	T	C	5: 121,487,465 (GRCm39)	S3487P	possibly damaging	Het
Hivep1	T	C	13: 42,310,787 (GRCm39)	V1009A	possibly damaging	Het
Ifna12	A	T	4: 88,521,091 (GRCm39)	V152E	probably damaging	Het
Igf2r	A	T	17: 12,930,974 (GRCm39)	C903S	possibly damaging	Het
Ipo9	T	C	1: 135,313,672 (GRCm39)	D1002G	possibly damaging	Het
Isyna1	T	C	8: 71,048,904 (GRCm39)	S328P	probably damaging	Het
Itprid2	T	C	2: 79,472,303 (GRCm39)		probably benign	Het
Lamc1	G	A	1: 153,122,788 (GRCm39)	T764I	possibly damaging	Het
Lta4h	T	C	10: 93,308,831 (GRCm39)	V377A	probably benign	Het
Lyz2	C	T	10: 117,118,090 (GRCm39)	V20I	probably benign	Het
Myo3a	A	T	2: 22,328,418 (GRCm39)	L329F	probably benign	Het
Nlgn2	T	C	11: 69,716,628 (GRCm39)	T638A	probably benign	Het
Oasl2	A	G	5: 115,035,753 (GRCm39)	T10A	probably damaging	Het
Or14j8	A	T	17: 38,263,864 (GRCm39)	F17Y	probably damaging	Het
Pde10a	A	T	17: 9,172,604 (GRCm39)	N296I	probably damaging	Het
Plb1	A	G	5: 32,519,912 (GRCm39)	I1385M	probably benign	Het
Pld1	T	C	3: 28,141,378 (GRCm39)	V647A	probably damaging	Het
Pnp	T	C	14: 51,185,303 (GRCm39)		probably benign	Het
Ppl	A	T	16: 4,905,327 (GRCm39)	I1656K	probably damaging	Het
Rimbp3	G	T	16: 17,027,472 (GRCm39)	E299*	probably null	Het
Sbsn	C	A	7: 30,452,683 (GRCm39)	A566D	probably damaging	Het
Sh3rf1	T	A	8: 61,816,225 (GRCm39)	M494K	probably damaging	Het
Slc2a2	T	A	3: 28,772,885 (GRCm39)	V226E	probably damaging	Het
Smarca2	T	A	19: 26,617,986 (GRCm39)	I339N	possibly damaging	Het
Tenm2	G	T	11: 36,097,912 (GRCm39)	S445R	possibly damaging	Het
Tlcd5	C	A	9: 43,022,783 (GRCm39)	K190N	probably benign	Het
Tnip2	A	T	5: 34,671,075 (GRCm39)	L56Q	probably damaging	Het
Trpv1	C	T	11: 73,141,612 (GRCm39)	S485F	probably damaging	Het
Vmn2r23	T	C	6: 123,681,437 (GRCm39)	M115T	probably benign	Het
Zbtb38	G	A	9: 96,568,672 (GRCm39)	T804I	probably damaging	Het
Zfhx3	T	C	8: 109,520,167 (GRCm39)	S430P	possibly damaging	Het

Other mutations in Or5k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02728:Or5k1	APN	16	58,617,843 (GRCm39)	missense	probably benign	0.07
IGL02893:Or5k1	APN	16	58,618,020 (GRCm39)	missense	probably damaging	1.00
R0035:Or5k1	UTSW	16	58,617,485 (GRCm39)	nonsense	probably null
R0480:Or5k1	UTSW	16	58,617,684 (GRCm39)	missense	probably benign	0.05
R1101:Or5k1	UTSW	16	58,617,615 (GRCm39)	missense	probably benign	0.27
R1434:Or5k1	UTSW	16	58,617,811 (GRCm39)	missense	probably benign	0.06
R1992:Or5k1	UTSW	16	58,617,309 (GRCm39)	missense	probably benign
R2220:Or5k1	UTSW	16	58,617,987 (GRCm39)	missense	possibly damaging	0.69
R2436:Or5k1	UTSW	16	58,617,607 (GRCm39)	missense	probably benign	0.00
R4212:Or5k1	UTSW	16	58,617,732 (GRCm39)	missense	possibly damaging	0.67
R4910:Or5k1	UTSW	16	58,617,805 (GRCm39)	missense	probably benign	0.03
R5666:Or5k1	UTSW	16	58,617,424 (GRCm39)	missense	possibly damaging	0.75
R5670:Or5k1	UTSW	16	58,617,424 (GRCm39)	missense	possibly damaging	0.75
R5896:Or5k1	UTSW	16	58,618,095 (GRCm39)	missense	probably damaging	1.00
R6182:Or5k1	UTSW	16	58,617,655 (GRCm39)	missense	probably damaging	1.00
R6613:Or5k1	UTSW	16	58,617,894 (GRCm39)	missense	probably damaging	0.99
R6723:Or5k1	UTSW	16	58,617,795 (GRCm39)	missense	probably benign	0.06
R7051:Or5k1	UTSW	16	58,617,538 (GRCm39)	missense	probably benign	0.21
R7141:Or5k1	UTSW	16	58,617,771 (GRCm39)	missense	probably benign	0.05
R7179:Or5k1	UTSW	16	58,617,250 (GRCm39)	missense	probably benign	0.00
R7602:Or5k1	UTSW	16	58,617,343 (GRCm39)	missense	possibly damaging	0.62
R8425:Or5k1	UTSW	16	58,617,966 (GRCm39)	missense	probably benign	0.11
Z1176:Or5k1	UTSW	16	58,618,036 (GRCm39)	missense	probably damaging	0.99
Z1176:Or5k1	UTSW	16	58,617,786 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16