Mutagenetix > Incidental Mutation

Incidental Mutation 'R7916:Or8k18'

648061

Institutional Source

Beutler Lab

Gene Symbol

Or8k18

Ensembl Gene

ENSMUSG00000075194

Gene Name

olfactory receptor family 8 subfamily K member 18

Synonyms

GA_x6K02T2Q125-47735396-47734470, MOR187-1, Olfr1049

MMRRC Submission

045964-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7916 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86085109-86086035 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 86085202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 278 (Y278*)

Ref Sequence

ENSEMBL: ENSMUSP00000149360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099899] [ENSMUST00000216185]

AlphaFold

A2ARZ0

Predicted Effect

probably null
Transcript: ENSMUST00000099899
AA Change: Y278*

SMART Domains

Protein: ENSMUSP00000097483
Gene: ENSMUSG00000075194
AA Change: Y278*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.9e-54	PFAM
Pfam:7tm_1	41	290	5.6e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000216185
AA Change: Y278*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,682,454 (GRCm39)	L195*	probably null	Het
Ahnak	T	G	19: 8,983,196 (GRCm39)	D1493E	possibly damaging	Het
Alox12e	C	A	11: 70,212,111 (GRCm39)	R162L	probably benign	Het
Bax	T	G	7: 45,115,539 (GRCm39)	Q32P	probably benign	Het
Cand1	A	G	10: 119,052,493 (GRCm39)	M204T	probably benign	Het
Chd9	T	A	8: 91,761,684 (GRCm39)	Y2256*	probably null	Het
Chuk	A	G	19: 44,085,420 (GRCm39)	I242T	probably damaging	Het
Cic	T	C	7: 24,987,715 (GRCm39)	S1468P	probably damaging	Het
Col27a1	A	G	4: 63,142,789 (GRCm39)	H159R	probably damaging	Het
Cux1	T	C	5: 136,311,815 (GRCm39)	K1174E	probably damaging	Het
Dnah2	C	A	11: 69,311,974 (GRCm39)		probably null	Het
Dpp3	C	A	19: 4,967,052 (GRCm39)	E351*	probably null	Het
Dyrk1a	A	G	16: 94,474,200 (GRCm39)	Y319C	probably damaging	Het
E130308A19Rik	T	C	4: 59,719,841 (GRCm39)	S458P	probably damaging	Het
Ehmt1	G	A	2: 24,746,708 (GRCm39)	L425F	probably damaging	Het
Emp2	C	A	16: 10,102,437 (GRCm39)	R125L	possibly damaging	Het
Farsb	A	G	1: 78,435,200 (GRCm39)		probably null	Het
Frk	A	T	10: 34,360,021 (GRCm39)	R7S	possibly damaging	Het
Glb1l2	T	C	9: 26,678,720 (GRCm39)	T483A	probably benign	Het
Gm5773	T	C	3: 93,680,586 (GRCm39)	V86A	possibly damaging	Het
Gm7324	T	G	14: 43,952,003 (GRCm39)	D215E	probably benign	Het
Gng13	A	T	17: 25,937,932 (GRCm39)	K44*	probably null	Het
Gprin1	C	T	13: 54,887,263 (GRCm39)	G337D	possibly damaging	Het
Ighv1-84	G	T	12: 115,944,609 (GRCm39)	Q22K	probably benign	Het
Il20rb	T	C	9: 100,348,304 (GRCm39)	H210R	probably benign	Het
Iqcm	C	T	8: 76,304,578 (GRCm39)	S113L	probably benign	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,712,417 (GRCm39)		probably benign	Het
Kmo	G	T	1: 175,487,236 (GRCm39)	G430W	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Ldhd	T	G	8: 112,356,023 (GRCm39)	D120A	possibly damaging	Het
Lyst	T	C	13: 13,821,657 (GRCm39)	S1344P	possibly damaging	Het
Mb	T	A	15: 76,900,257 (GRCm39)	I112F	probably damaging	Het
Mbd5	G	A	2: 49,147,118 (GRCm39)	V443M	probably damaging	Het
Milr1	A	G	11: 106,654,688 (GRCm39)	K180R	possibly damaging	Het
Mst1r	T	C	9: 107,784,777 (GRCm39)	F145S	probably damaging	Het
Mthfd2	A	T	6: 83,286,455 (GRCm39)	I251K	possibly damaging	Het
Nfx1	T	A	4: 40,977,142 (GRCm39)	M272K	probably benign	Het
Nlrp3	A	G	11: 59,442,689 (GRCm39)	D747G	probably benign	Het
Odr4	C	T	1: 150,260,249 (GRCm39)	R123K	probably benign	Het
Or2y1	A	T	11: 49,385,543 (GRCm39)	Y61F	probably benign	Het
Or5p60	C	A	7: 107,724,329 (GRCm39)	S47I	possibly damaging	Het
Pcdha11	A	G	18: 37,140,441 (GRCm39)	E690G	probably benign	Het
Pcdhga4	T	A	18: 37,818,502 (GRCm39)	I17N	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phf20	A	G	2: 156,129,858 (GRCm39)	K477E	probably damaging	Het
Pik3c2b	T	A	1: 133,028,642 (GRCm39)	I1377N	probably benign	Het
Polr3h	T	C	15: 81,806,613 (GRCm39)	K69E	probably benign	Het
Rpgrip1	A	G	14: 52,368,641 (GRCm39)	H280R	possibly damaging	Het
Rpp40	C	A	13: 36,086,034 (GRCm39)	R132L	probably benign	Het
Ryr1	G	A	7: 28,790,364 (GRCm39)	Q1488*	probably null	Het
Sh3bp1	A	G	15: 78,791,421 (GRCm39)	M403V	probably benign	Het
Slc20a1	G	A	2: 129,049,757 (GRCm39)	D340N	probably benign	Het
Snrnp200	T	A	2: 127,074,979 (GRCm39)	N1517K	possibly damaging	Het
Srek1ip1	T	A	13: 104,973,981 (GRCm39)	H129Q	possibly damaging	Het
Thumpd2	A	T	17: 81,334,116 (GRCm39)	C491S	probably benign	Het
Tle3	A	T	9: 61,314,410 (GRCm39)	N204I	probably benign	Het
Tmem131	A	G	1: 36,862,167 (GRCm39)	V677A	probably benign	Het
Topaz1	T	G	9: 122,576,499 (GRCm39)	L30R	probably benign	Het
Trim35	T	A	14: 66,546,309 (GRCm39)	C359S	probably damaging	Het
Ttn	A	C	2: 76,774,865 (GRCm39)	V2105G	unknown	Het
Ube2o	A	G	11: 116,471,884 (GRCm39)	V119A	probably benign	Het
Ubr2	A	T	17: 47,279,308 (GRCm39)		probably null	Het
Uhmk1	A	G	1: 170,032,757 (GRCm39)	V347A	possibly damaging	Het
Utp4	C	T	8: 107,649,497 (GRCm39)	P649S	probably damaging	Het
Vmn2r28	G	A	7: 5,483,818 (GRCm39)	T794I	probably damaging	Het
Vmn2r61	T	G	7: 41,949,935 (GRCm39)	F785C	probably damaging	Het
Xpot	C	A	10: 121,458,848 (GRCm39)		probably benign	Het
Zfp729a	C	T	13: 67,768,294 (GRCm39)	R645H	probably benign	Het

Other mutations in Or8k18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01659:Or8k18	APN	2	86,085,529 (GRCm39)	nonsense	probably null
IGL03371:Or8k18	APN	2	86,085,935 (GRCm39)	missense	possibly damaging	0.88
IGL03378:Or8k18	APN	2	86,085,363 (GRCm39)	missense	possibly damaging	0.91
R1529:Or8k18	UTSW	2	86,085,585 (GRCm39)	missense	probably damaging	1.00
R1761:Or8k18	UTSW	2	86,085,383 (GRCm39)	missense	probably damaging	1.00
R1951:Or8k18	UTSW	2	86,085,440 (GRCm39)	missense	probably benign	0.01
R3499:Or8k18	UTSW	2	86,085,185 (GRCm39)	missense	possibly damaging	0.91
R3974:Or8k18	UTSW	2	86,085,935 (GRCm39)	missense	possibly damaging	0.88
R4094:Or8k18	UTSW	2	86,085,674 (GRCm39)	missense	probably damaging	1.00
R4191:Or8k18	UTSW	2	86,085,666 (GRCm39)	missense	probably benign	0.03
R4659:Or8k18	UTSW	2	86,085,357 (GRCm39)	nonsense	probably null
R6431:Or8k18	UTSW	2	86,085,702 (GRCm39)	missense	probably benign	0.01
R7006:Or8k18	UTSW	2	86,085,572 (GRCm39)	missense	probably benign	0.01
R7090:Or8k18	UTSW	2	86,085,420 (GRCm39)	missense	probably damaging	1.00
R8395:Or8k18	UTSW	2	86,085,878 (GRCm39)	missense	possibly damaging	0.94
R9087:Or8k18	UTSW	2	86,085,380 (GRCm39)	missense	probably benign
R9128:Or8k18	UTSW	2	86,086,022 (GRCm39)	missense	probably damaging	1.00
R9223:Or8k18	UTSW	2	86,085,544 (GRCm39)	missense	possibly damaging	0.50
R9786:Or8k18	UTSW	2	86,085,428 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GTGGAGCTAAATGCAACTATTTTGG -3'
(R):5'- TGATCTGTTCACATGTAGAAGAGACAG -3'

Sequencing Primer
(F):5'- TGGCAGTTACAATTGTCAC -3'
(R):5'- AGCCTTCAATTTAATCTCTTCTCTTG -3'

Posted On

2020-09-15