Mutagenetix > Incidental Mutation

Incidental Mutation 'R7090:Or8k18'

550129

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

045184-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R7090 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86085109-86086035 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86085420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 206 (N206Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149360 (fasta)

Gene Model

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

AlphaFold

A2ARZ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000099899
AA Change: N206Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097483
Gene: ENSMUSG00000075194
AA Change: N206Y

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 damaging
Transcript: ENSMUST00000216185
AA Change: N206Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.3456

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

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
Calm3	A	T	7: 16,651,004 (GRCm39)	Y139*	probably null	Het
Ccdc27	T	C	4: 154,112,523 (GRCm39)	N584S	probably benign	Het
Cdh24	C	G	14: 54,876,964 (GRCm39)	G13A	probably damaging	Het
Chd8	T	C	14: 52,452,677 (GRCm39)	K1281E	probably damaging	Het
Clasp1	G	T	1: 118,409,816 (GRCm39)	G4C	probably benign	Het
Cul9	G	T	17: 46,811,765 (GRCm39)	P2488T	probably damaging	Het
Daam2	A	G	17: 49,789,973 (GRCm39)	V428A	probably damaging	Het
Dcaf8	A	G	1: 172,016,535 (GRCm39)	S441G	probably damaging	Het
Dchs2	A	G	3: 83,255,581 (GRCm39)	T2426A	probably benign	Het
Dnai3	C	A	3: 145,746,582 (GRCm39)	K881N	possibly damaging	Het
Dpys	A	G	15: 39,690,279 (GRCm39)	V358A	probably damaging	Het
Efhd1	A	G	1: 87,217,219 (GRCm39)	D112G	probably damaging	Het
Exoc1	T	C	5: 76,714,800 (GRCm39)	S120P	unknown	Het
Fyco1	A	G	9: 123,626,784 (GRCm39)	L1309S	probably damaging	Het
Gm14403	A	G	2: 177,201,114 (GRCm39)	N111S	possibly damaging	Het
Gm5901	A	G	7: 105,026,555 (GRCm39)	T108A	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Itgb5	T	G	16: 33,705,464 (GRCm39)	D251E	probably damaging	Het
Kcnk15	T	C	2: 163,700,637 (GRCm39)	V292A	probably benign	Het
Kdm2a	A	T	19: 4,369,169 (GRCm39)	Y1149N	probably damaging	Het
Kdm3a	T	C	6: 71,572,529 (GRCm39)	T1011A	possibly damaging	Het
Krt35	A	T	11: 99,986,498 (GRCm39)		probably null	Het
Lipn	T	A	19: 34,049,180 (GRCm39)	D115E	possibly damaging	Het
Lpin3	T	G	2: 160,738,672 (GRCm39)	L208R	probably damaging	Het
Ltf	C	A	9: 110,855,048 (GRCm39)	Q354K	probably benign	Het
Marf1	C	A	16: 13,929,566 (GRCm39)	C1680F	possibly damaging	Het
Mtss2	T	A	8: 111,456,656 (GRCm39)	V242E	probably damaging	Het
Myo7b	T	C	18: 32,131,765 (GRCm39)	Y477C	probably damaging	Het
Nbn	T	A	4: 15,981,350 (GRCm39)	S481T	probably benign	Het
Ncoa2	A	G	1: 13,257,062 (GRCm39)	Y146H	probably damaging	Het
Ntng1	A	T	3: 109,842,496 (GRCm39)	C92*	probably null	Het
Or10ad1b	C	T	15: 98,125,083 (GRCm39)	V150I	probably benign	Het
Or2n1b	G	A	17: 38,460,385 (GRCm39)	G302D	probably benign	Het
Or8k31-ps1	T	C	2: 86,356,471 (GRCm39)	I17V	probably benign	Het
Os9	A	T	10: 126,935,547 (GRCm39)	S308T	probably benign	Het
Otx2	T	A	14: 48,896,192 (GRCm39)	T289S	probably benign	Het
Pakap	C	T	4: 57,648,042 (GRCm39)	A60V	probably benign	Het
Pigg	A	G	5: 108,484,378 (GRCm39)	T675A	possibly damaging	Het
Pink1	C	T	4: 138,042,912 (GRCm39)	E461K	probably damaging	Het
Pip5k1a	A	G	3: 94,967,809 (GRCm39)	S543P	possibly damaging	Het
Prkaa1	A	G	15: 5,206,611 (GRCm39)	T454A	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rab31	C	T	17: 66,005,012 (GRCm39)	V83I	possibly damaging	Het
Rabggtb	G	T	3: 153,615,986 (GRCm39)	D117E	probably benign	Het
Rbl1	T	C	2: 156,994,820 (GRCm39)	H951R	probably benign	Het
Sapcd2	A	G	2: 25,266,091 (GRCm39)	S314G	probably benign	Het
Septin4	T	C	11: 87,475,264 (GRCm39)	L164P	probably damaging	Het
Shroom1	A	G	11: 53,356,760 (GRCm39)	E541G	probably damaging	Het
Slc26a7	C	A	4: 14,565,460 (GRCm39)	G208*	probably null	Het
Smco2	A	G	6: 146,772,711 (GRCm39)	I304M	probably damaging	Het
Spg7	T	C	8: 123,818,491 (GRCm39)		probably null	Het
Spocd1	T	C	4: 129,847,691 (GRCm39)	F552L		Het
St6galnac2	T	C	11: 116,568,461 (GRCm39)	D334G	probably damaging	Het
Sub1	A	G	15: 11,986,572 (GRCm39)	S92P	probably benign	Het
Syne2	T	C	12: 75,989,125 (GRCm39)	F1829L	probably benign	Het
Tdrd1	T	C	19: 56,839,833 (GRCm39)	V631A	probably benign	Het
Tdrd9	T	C	12: 111,958,904 (GRCm39)	S113P	probably benign	Het
Tgfbrap1	A	C	1: 43,110,725 (GRCm39)	V260G	probably damaging	Het
Tyw3	G	C	3: 154,299,426 (GRCm39)	S94R	probably benign	Het
Urb2	T	C	8: 124,757,338 (GRCm39)	V1015A	probably benign	Het
Usp5	A	G	6: 124,806,357 (GRCm39)	M1T	probably null	Het
Utrn	T	C	10: 12,560,260 (GRCm39)	D1343G	possibly damaging	Het
Vmn2r56	T	C	7: 12,449,254 (GRCm39)	Y328C	probably damaging	Het
Vmn2r99	A	T	17: 19,613,972 (GRCm39)	E564V	possibly damaging	Het
Zc3h8	T	C	2: 128,777,241 (GRCm39)	T133A	possibly damaging	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
R7916:Or8k18	UTSW	2	86,085,202 (GRCm39)	nonsense	probably null
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'- TTCAAATGAGTGAGCAGATTTAGGC -3'
(R):5'- GTCTCAGAGACGCTGTCAAG -3'

Sequencing Primer
(F):5'- TGAGCAGATTTAGGCTGAACATAC -3'
(R):5'- CAGAGACGCTGTCAAGTGCTTATTG -3'

Posted On

2019-05-15