Mutagenetix > Incidental Mutation

Incidental Mutation 'R7141:Or5k1'

553366

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

045221-MU

Accession Numbers

Essential gene?

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

Stock #

R7141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58617142-58618305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58617771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 146 (T146M)

Ref Sequence

ENSEMBL: ENSMUSP00000145946 (fasta)

Gene Model

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

AlphaFold

E9QAT7

Predicted Effect

probably benign
Transcript: ENSMUST00000049940
AA Change: T146M

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000052798
Gene: ENSMUSG00000049362
AA Change: T146M

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 benign
Transcript: ENSMUST00000206205
AA Change: T146M

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (56/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	C	1: 74,323,270 (GRCm39)		probably null	Het
Abhd10	C	T	16: 45,563,169 (GRCm39)	R29Q	probably benign	Het
Adgrv1	A	G	13: 81,640,620 (GRCm39)	Y3369H	probably benign	Het
Agl	A	G	3: 116,546,935 (GRCm39)	I1305T	probably benign	Het
Apba3	A	G	10: 81,108,889 (GRCm39)	I551V	probably damaging	Het
Appbp2	A	T	11: 85,082,577 (GRCm39)	Y551*	probably null	Het
Btbd17	T	C	11: 114,682,641 (GRCm39)	N357S	possibly damaging	Het
Casp2	T	C	6: 42,257,329 (GRCm39)	F426S	possibly damaging	Het
Cdh5	A	G	8: 104,839,633 (GRCm39)	N35D	probably benign	Het
Cep350	G	T	1: 155,790,494 (GRCm39)	Q1354K	probably damaging	Het
Cep44	A	G	8: 56,992,886 (GRCm39)	C243R	probably damaging	Het
Chst4	A	T	8: 110,757,471 (GRCm39)	S131T	probably damaging	Het
Cox15	T	C	19: 43,725,186 (GRCm39)	N406D	probably benign	Het
Cttnbp2	C	T	6: 18,380,467 (GRCm39)	R1467H	probably benign	Het
Dock8	A	G	19: 25,158,984 (GRCm39)	D1714G	probably null	Het
Erbb2	G	T	11: 98,318,135 (GRCm39)	R457L	probably damaging	Het
Esyt3	T	C	9: 99,203,493 (GRCm39)	N463S	probably benign	Het
Fam171a1	C	T	2: 3,226,189 (GRCm39)	Q441*	probably null	Het
Fam186b	T	A	15: 99,181,773 (GRCm39)	M142L	probably benign	Het
Git2	G	T	5: 114,907,759 (GRCm39)	C35*	probably null	Het
Gm21103	T	G	14: 17,482,795 (GRCm39)	Q202P	probably damaging	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Hmcn2	C	A	2: 31,250,908 (GRCm39)	T790K	probably benign	Het
Hspg2	T	A	4: 137,279,427 (GRCm39)	L3114H	probably damaging	Het
Igkv3-10	A	T	6: 70,549,965 (GRCm39)	Q37L	possibly damaging	Het
Kcp	G	T	6: 29,487,511 (GRCm39)	Y1106*	probably null	Het
Khsrp	T	C	17: 57,332,602 (GRCm39)	D226G	possibly damaging	Het
Klre1	T	A	6: 129,560,129 (GRCm39)	W134R	probably damaging	Het
Lrrc66	A	G	5: 73,787,320 (GRCm39)	I10T	probably benign	Het
Map4	T	C	9: 109,807,938 (GRCm39)	M1T	probably null	Het
Met	T	A	6: 17,527,154 (GRCm39)	I535K	probably benign	Het
Mmut	T	C	17: 41,263,730 (GRCm39)	V500A	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,435 (GRCm39)	V159A	possibly damaging	Het
Mrpl41	A	G	2: 24,864,468 (GRCm39)	L68P	probably damaging	Het
Mtmr4	T	C	11: 87,491,439 (GRCm39)	W135R	probably damaging	Het
Myh10	A	G	11: 68,692,965 (GRCm39)	D1420G	probably benign	Het
Naglu	A	C	11: 100,963,056 (GRCm39)	D229A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Ncln	G	T	10: 81,323,683 (GRCm39)	Y517*	probably null	Het
Nr1h4	G	A	10: 89,334,091 (GRCm39)	R100*	probably null	Het
P2rx5	A	T	11: 73,051,474 (GRCm39)	T18S	probably damaging	Het
Pclo	T	C	5: 14,729,271 (GRCm39)	S2710P	unknown	Het
Pdhx	A	T	2: 102,903,659 (GRCm39)	F46I	probably benign	Het
Piezo2	A	T	18: 63,278,181 (GRCm39)	L241*	probably null	Het
Pitpnm1	G	A	19: 4,152,787 (GRCm39)	V65M	probably damaging	Het
Rgs3	A	G	4: 62,608,724 (GRCm39)	D330G	probably damaging	Het
Scaf8	T	C	17: 3,209,457 (GRCm39)	V60A	unknown	Het
Sema4c	A	G	1: 36,592,101 (GRCm39)	Y249H	probably damaging	Het
Spp2	T	C	1: 88,335,050 (GRCm39)	Y27H	probably damaging	Het
Sugct	T	A	13: 17,819,372 (GRCm39)	I158F	possibly damaging	Het
Sympk	A	T	7: 18,788,017 (GRCm39)	I1178F	probably benign	Het
Tmppe	T	C	9: 114,234,036 (GRCm39)	Y112H	probably benign	Het
Trp53bp2	A	G	1: 182,276,073 (GRCm39)	T187A		Het
Tspoap1	A	G	11: 87,665,523 (GRCm39)	S754G	probably damaging	Het
Vmn1r214	C	T	13: 23,218,839 (GRCm39)	A111V	probably benign	Het
Vmn2r70	G	C	7: 85,208,044 (GRCm39)	S811C	probably benign	Het
Zfp638	T	C	6: 83,844,181 (GRCm39)	S15P	unknown	Het
Zfp763	A	G	17: 33,237,769 (GRCm39)	S459P	probably damaging	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
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
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'- TGTGAAGACTTGGATTGAGCC -3'
(R):5'- TGCTATTACCCCTAAAATGTTGGAG -3'

Sequencing Primer
(F):5'- CTTGGATTGAGCCTGAAAAGAC -3'
(R):5'- CCCCTAAAATGTTGGAGAACTTTTTC -3'

Posted On

2019-05-15