Mutagenetix > Incidental Mutation

Incidental Mutation 'R6182:Or5k1'

487060

Institutional Source

Beutler Lab

Gene Symbol

Or5k1

Ensembl Gene

ENSMUSG00000049362

Gene Name

olfactory receptor family 5 subfamily K member 1

Synonyms

MOR184-3, GA_x54KRFPKG5P-54960233-54959268, Olfr173

MMRRC Submission

044324-MU

Accession Numbers

Essential gene?

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

Stock #

R6182 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58617142-58618305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58617655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 185 (Y185H)

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: Y185H

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

SMART Domains

Protein: ENSMUSP00000052798
Gene: ENSMUSG00000049362
AA Change: Y185H

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: Y185H

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	C	9: 90,074,489 (GRCm39)	S884P	probably benign	Het
Akap13	C	A	7: 75,236,028 (GRCm39)	A201E	probably benign	Het
Ces1f	T	G	8: 93,983,124 (GRCm39)	E540A	probably benign	Het
Chid1	T	A	7: 141,108,415 (GRCm39)	M137L	probably benign	Het
Chsy3	A	G	18: 59,312,414 (GRCm39)	T296A	probably benign	Het
Clec4f	A	G	6: 83,622,284 (GRCm39)	V519A	probably benign	Het
Clk4	T	A	11: 51,159,009 (GRCm39)	F41I	possibly damaging	Het
Cntnap5c	A	G	17: 58,183,390 (GRCm39)	D32G	probably benign	Het
Ctsl	T	C	13: 64,515,786 (GRCm39)	Y95C	probably damaging	Het
Cyp2c54	T	C	19: 40,036,005 (GRCm39)	M302V	probably benign	Het
Cyp2c65	C	G	19: 39,049,606 (GRCm39)	L45V	probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Daam1	C	T	12: 72,006,661 (GRCm39)	Q693*	probably null	Het
Dgcr8	A	T	16: 18,098,172 (GRCm39)	D406E	probably benign	Het
Dock2	G	T	11: 34,179,476 (GRCm39)	P1760Q	probably damaging	Het
Epb41l2	G	A	10: 25,383,715 (GRCm39)	R940H	probably damaging	Het
Erc2	A	C	14: 28,039,210 (GRCm39)	D951A	probably damaging	Het
Fbxw7	T	C	3: 84,723,078 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,555,390 (GRCm39)	I1716F	probably damaging	Het
Fus	A	G	7: 127,576,465 (GRCm39)	D295G	probably damaging	Het
Gm5093	A	G	17: 46,750,568 (GRCm39)	I153T	probably benign	Het
Gnptab	T	C	10: 88,265,342 (GRCm39)	V318A	possibly damaging	Het
Gpc2	T	C	5: 138,276,676 (GRCm39)	D150G	probably benign	Het
Gsc2	A	G	16: 17,731,483 (GRCm39)	*215R	probably null	Het
Hectd3	T	C	4: 116,857,476 (GRCm39)	S552P	probably damaging	Het
Katnal1	C	A	5: 148,841,407 (GRCm39)	K152N	possibly damaging	Het
Kcnh1	A	T	1: 191,873,361 (GRCm39)	T16S	probably damaging	Het
Lrrc71	T	C	3: 87,653,101 (GRCm39)	D105G	probably benign	Het
Mon2	T	C	10: 122,874,564 (GRCm39)		probably null	Het
Mroh9	G	A	1: 162,893,612 (GRCm39)	Q188*	probably null	Het
Mtmr14	A	G	6: 113,246,469 (GRCm39)	S81G	possibly damaging	Het
Nrap	T	A	19: 56,350,130 (GRCm39)	M628L	probably benign	Het
Odad3	A	G	9: 21,901,698 (GRCm39)	F553S	probably damaging	Het
Or1o1	T	A	17: 37,716,883 (GRCm39)	I148K	possibly damaging	Het
Pals2	A	G	6: 50,175,206 (GRCm39)	I506V	probably benign	Het
Pate4	A	T	9: 35,519,586 (GRCm39)	S35T	possibly damaging	Het
Pkd1l1	T	C	11: 8,815,555 (GRCm39)	E1452G	probably benign	Het
Pld5	T	C	1: 175,872,420 (GRCm39)	D239G	probably benign	Het
Ppef2	C	T	5: 92,374,925 (GRCm39)	V728M	probably damaging	Het
Rasip1	TGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGC	7: 45,277,879 (GRCm39)		probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Serpina3c	C	A	12: 104,115,690 (GRCm39)	V285L	probably benign	Het
Serpinb9f	T	C	13: 33,518,405 (GRCm39)	S302P	probably damaging	Het
Sis	C	T	3: 72,811,626 (GRCm39)	V1642I	probably benign	Het
Slc12a4	G	A	8: 106,674,531 (GRCm39)	L601F	probably damaging	Het
Slc39a6	G	T	18: 24,734,013 (GRCm39)	N225K	probably benign	Het
Snrnp70	G	A	7: 45,026,497 (GRCm39)	R291*	probably null	Het
Spin1	C	T	13: 51,298,374 (GRCm39)	T131I	probably benign	Het
St18	T	G	1: 6,914,342 (GRCm39)		probably null	Het
Stox1	A	G	10: 62,500,721 (GRCm39)	L613P	probably damaging	Het
Tgm3	T	G	2: 129,867,221 (GRCm39)	Y155*	probably null	Het
Tmem67	T	C	4: 12,051,402 (GRCm39)	I809V	probably benign	Het
Tnc	T	A	4: 63,927,033 (GRCm39)	D831V	probably damaging	Het
Ttll13	A	T	7: 79,909,981 (GRCm39)	E762D	probably benign	Het
Unc5b	A	T	10: 60,601,015 (GRCm39)	V937E	probably damaging	Het
Vmn1r34	A	G	6: 66,614,312 (GRCm39)	I142T	probably damaging	Het
Vmn2r104	A	G	17: 20,250,507 (GRCm39)	M588T	probably benign	Het
Vmn2r77	T	C	7: 86,460,957 (GRCm39)	V761A	probably damaging	Het
Wdr48	G	T	9: 119,753,832 (GRCm39)	G665W	probably damaging	Het
Xpot	T	A	10: 121,442,163 (GRCm39)	R550S	probably damaging	Het
Ydjc	A	G	16: 16,964,943 (GRCm39)	T33A	probably benign	Het
Zfc3h1	A	G	10: 115,226,764 (GRCm39)	T274A	probably benign	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp788	T	A	7: 41,299,940 (GRCm39)	C859S	probably damaging	Het
Zscan4c	T	C	7: 10,740,709 (GRCm39)	M76T	probably benign	Het

Other mutations in Or5k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02649:Or5k1	APN	16	58,617,713 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CACAGGTGGAGAAGGCTTTG -3'
(R):5'- AACTGCAGACTGCTTTCTTCTG -3'

Sequencing Primer
(F):5'- AAGGCTTTGATCCTTCCCTC -3'
(R):5'- TGTCAGCAATGGCCTATGAC -3'

Posted On

2017-10-10