Mutagenetix > Incidental Mutation

Incidental Mutation 'R5546:Or5k8'

436316

Institutional Source

Beutler Lab

Gene Symbol

Or5k8

Ensembl Gene

ENSMUSG00000060663

Gene Name

olfactory receptor family 5 subfamily K member 8

Synonyms

GA_x54KRFPKG5P-55026345-55025418, MOR184-10P, MOR184-1, GA_x54KRFPKG5P-54993816-54992890, Olfr175-ps1, Olfr175, Olfr174

MMRRC Submission

043104-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R5546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58644144-58647124 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 58644516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 185 (Y185*)

Ref Sequence

ENSEMBL: ENSMUSP00000150202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079955] [ENSMUST00000215069]

AlphaFold

A0A140T8K4

Predicted Effect

probably null
Transcript: ENSMUST00000079955
AA Change: Y185*

SMART Domains

Protein: ENSMUSP00000078873
Gene: ENSMUSG00000060663
AA Change: Y185*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.3e-52	PFAM
Pfam:7TM_GPCR_Srsx	35	305	6.8e-6	PFAM
Pfam:7tm_1	41	290	2.5e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000215069
AA Change: Y185*

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,806,832 (GRCm39)	N385S	probably benign	Het
Ahctf1	A	T	1: 179,581,633 (GRCm39)	I1523N	probably benign	Het
Akna	C	T	4: 63,313,196 (GRCm39)	G309E	probably benign	Het
Akna	T	C	4: 63,313,803 (GRCm39)	N107D	probably benign	Het
Arhgef15	G	A	11: 68,844,877 (GRCm39)	P240L	probably benign	Het
Brd1	T	A	15: 88,585,325 (GRCm39)	E836D	probably benign	Het
Brf2	A	G	8: 27,614,311 (GRCm39)	S292P	possibly damaging	Het
C3	A	G	17: 57,529,976 (GRCm39)	L500P	probably damaging	Het
Cblif	T	C	19: 11,725,859 (GRCm39)	S50P	possibly damaging	Het
Ccdc107	T	C	4: 43,495,685 (GRCm39)	L196P	probably damaging	Het
Cdcp1	G	T	9: 123,007,094 (GRCm39)	P551Q	probably damaging	Het
Ckap5	T	C	2: 91,425,161 (GRCm39)	L1224P	probably damaging	Het
Csnk1g2	C	A	10: 80,474,232 (GRCm39)	T178K	probably benign	Het
Ctsq	A	T	13: 61,185,702 (GRCm39)	C146*	probably null	Het
Cyp2ab1	T	A	16: 20,132,507 (GRCm39)	I264F	probably damaging	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 34,131,615 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 117,939,583 (GRCm39)	T3179M	possibly damaging	Het
Dnah7c	A	T	1: 46,705,477 (GRCm39)	T2497S	probably damaging	Het
Eif4enif1	T	C	11: 3,193,989 (GRCm39)	V776A	probably damaging	Het
Erbb4	G	T	1: 68,337,452 (GRCm39)	T622N	probably damaging	Het
Erich6	A	G	3: 58,526,218 (GRCm39)	Y595H	probably benign	Het
Fam107a	C	T	14: 8,298,764 (GRCm38)	A121T	probably benign	Het
Gpatch11	C	T	17: 79,149,548 (GRCm39)	Q183*	probably null	Het
Gpr161	C	A	1: 165,133,982 (GRCm39)	F81L	possibly damaging	Het
Hook1	G	T	4: 95,890,765 (GRCm39)	E291D	probably benign	Het
Hsf2bp	T	A	17: 32,165,669 (GRCm39)	I309F	probably damaging	Het
Hspg2	T	C	4: 137,275,485 (GRCm39)		probably null	Het
Ide	T	G	19: 37,249,623 (GRCm39)	M910L	unknown	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kmt2d	T	C	15: 98,750,949 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,581,518 (GRCm39)	Y768H	probably damaging	Het
Mageb3	A	G	2: 121,784,868 (GRCm39)	V278A	probably damaging	Het
Mapkbp1	G	A	2: 119,849,724 (GRCm39)	R732H	probably damaging	Het
Marveld2	T	C	13: 100,737,446 (GRCm39)	I148V	probably benign	Het
Mast1	G	C	8: 85,642,889 (GRCm39)	P969A	probably damaging	Het
Myh10	T	G	11: 68,689,206 (GRCm39)	V1261G	possibly damaging	Het
Nlrp1b	A	T	11: 71,108,102 (GRCm39)	H466Q	probably benign	Het
Npr2	T	G	4: 43,650,150 (GRCm39)	V905G	probably damaging	Het
Oip5	T	A	2: 119,440,808 (GRCm39)	I240F	unknown	Het
Or4c12	A	G	2: 89,773,929 (GRCm39)	C177R	probably damaging	Het
Or8b12	T	A	9: 37,657,820 (GRCm39)	M130K	probably benign	Het
Pcsk2	G	A	2: 143,388,480 (GRCm39)	A24T	probably benign	Het
Plxnb1	G	T	9: 108,929,818 (GRCm39)	G225W	probably damaging	Het
Polr1a	T	C	6: 71,906,350 (GRCm39)	S389P	possibly damaging	Het
Prkca	A	G	11: 107,944,806 (GRCm39)	V175A	probably benign	Het
Rassf7	C	A	7: 140,796,973 (GRCm39)		probably null	Het
Rbl2	A	G	8: 91,805,560 (GRCm39)	I206V	probably benign	Het
Rnf111	A	T	9: 70,366,378 (GRCm39)	H353Q	probably benign	Het
Rpn1	T	G	6: 88,070,841 (GRCm39)	V237G	probably damaging	Het
Sec61a2	T	A	2: 5,881,351 (GRCm39)	I267F	possibly damaging	Het
Spop	G	T	11: 95,376,669 (GRCm39)	V241F	probably damaging	Het
Sptbn2	C	T	19: 4,775,978 (GRCm39)	A178V	probably damaging	Het
Stard13	A	G	5: 150,969,366 (GRCm39)	Y791H	probably benign	Het
Susd2	T	A	10: 75,478,052 (GRCm39)	I113L	probably benign	Het
Tcof1	T	C	18: 60,964,628 (GRCm39)	E666G	possibly damaging	Het
Tekt5	G	T	16: 10,179,254 (GRCm39)	A371E	possibly damaging	Het
Thap11	G	A	8: 106,582,548 (GRCm39)	E186K	probably damaging	Het
Tk2	A	T	8: 104,974,315 (GRCm39)	D45E	possibly damaging	Het
Tuba8	C	A	6: 121,199,872 (GRCm39)	Y185*	probably null	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Wfdc8	A	T	2: 164,439,239 (GRCm39)		probably benign	Het
Zar1l	T	C	5: 150,436,365 (GRCm39)	N237S	probably damaging	Het
Zfp607b	A	T	7: 27,402,032 (GRCm39)	T163S	probably benign	Het
Zfp619	C	A	7: 39,184,577 (GRCm39)	H202Q	probably benign	Het

Other mutations in Or5k8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Or5k8	APN	16	58,644,958 (GRCm39)	missense	probably damaging	1.00
IGL01404:Or5k8	APN	16	58,644,958 (GRCm39)	missense	probably damaging	1.00
IGL01867:Or5k8	APN	16	58,644,337 (GRCm39)	missense	probably damaging	1.00
IGL02073:Or5k8	APN	16	58,644,169 (GRCm39)	missense	probably benign
IGL02393:Or5k8	APN	16	58,644,409 (GRCm39)	missense	probably damaging	0.99
IGL02474:Or5k8	APN	16	58,645,019 (GRCm39)	missense	probably benign
IGL02548:Or5k8	APN	16	58,644,691 (GRCm39)	missense	probably benign	0.42
IGL02948:Or5k8	APN	16	58,644,451 (GRCm39)	missense	probably benign	0.00
PIT4504001:Or5k8	UTSW	16	58,644,671 (GRCm39)	missense	probably benign	0.00
R0553:Or5k8	UTSW	16	58,644,518 (GRCm39)	missense	probably damaging	0.99
R1191:Or5k8	UTSW	16	58,644,922 (GRCm39)	missense	probably benign
R1201:Or5k8	UTSW	16	58,644,226 (GRCm39)	missense	probably damaging	0.98
R1458:Or5k8	UTSW	16	58,645,039 (GRCm39)	missense	probably null	0.68
R1469:Or5k8	UTSW	16	58,644,973 (GRCm39)	missense	probably benign
R1469:Or5k8	UTSW	16	58,644,973 (GRCm39)	missense	probably benign
R1843:Or5k8	UTSW	16	58,644,440 (GRCm39)	missense	probably damaging	0.99
R2147:Or5k8	UTSW	16	58,644,842 (GRCm39)	missense	probably damaging	0.99
R2421:Or5k8	UTSW	16	58,644,709 (GRCm39)	missense	probably damaging	1.00
R4370:Or5k8	UTSW	16	58,644,956 (GRCm39)	missense	probably benign	0.00
R4621:Or5k8	UTSW	16	58,644,469 (GRCm39)	missense	possibly damaging	0.94
R4622:Or5k8	UTSW	16	58,644,469 (GRCm39)	missense	possibly damaging	0.94
R4623:Or5k8	UTSW	16	58,644,469 (GRCm39)	missense	possibly damaging	0.94
R4711:Or5k8	UTSW	16	58,645,069 (GRCm39)	start codon destroyed	probably null	0.98
R5323:Or5k8	UTSW	16	58,645,066 (GRCm39)	missense	probably benign
R5447:Or5k8	UTSW	16	58,644,846 (GRCm39)	nonsense	probably null
R5457:Or5k8	UTSW	16	58,644,796 (GRCm39)	missense	probably damaging	0.97
R5623:Or5k8	UTSW	16	58,644,706 (GRCm39)	missense	probably benign	0.02
R5767:Or5k8	UTSW	16	58,644,316 (GRCm39)	missense	probably benign	0.42
R6270:Or5k8	UTSW	16	58,644,782 (GRCm39)	missense	probably damaging	1.00
R6449:Or5k8	UTSW	16	58,644,889 (GRCm39)	missense	probably damaging	1.00
R7356:Or5k8	UTSW	16	58,644,718 (GRCm39)	missense	probably damaging	0.99
R7521:Or5k8	UTSW	16	58,644,257 (GRCm39)	missense	probably benign	0.00
R7638:Or5k8	UTSW	16	58,644,958 (GRCm39)	missense	probably damaging	1.00
R7814:Or5k8	UTSW	16	58,644,365 (GRCm39)	missense	probably damaging	0.98
R9109:Or5k8	UTSW	16	58,644,677 (GRCm39)	missense	probably damaging	1.00
R9276:Or5k8	UTSW	16	58,644,734 (GRCm39)	missense	probably benign	0.09
R9681:Or5k8	UTSW	16	58,644,176 (GRCm39)	missense	possibly damaging	0.90
X0011:Or5k8	UTSW	16	58,645,026 (GRCm39)	missense	probably benign
Z1176:Or5k8	UTSW	16	58,644,670 (GRCm39)	frame shift	probably null
Z1177:Or5k8	UTSW	16	58,645,061 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- GCACAAGTAGATAAGGCTTTGC -3'
(R):5'- AAACTGCAGACTGCTTCCTTC -3'

Sequencing Primer
(F):5'- CAAGTAGATAAGGCTTTGCTTCTTCC -3'
(R):5'- ACCGCTATGTGGCCATATG -3'

Posted On

2016-10-24