Mutagenetix > Incidental Mutation

Incidental Mutation 'R0384:Or8k30'

31143

Institutional Source

Beutler Lab

Gene Symbol

Or8k30

Ensembl Gene

ENSMUSG00000060742

Gene Name

olfactory receptor family 8 subfamily K member 30

Synonyms

MOR189-2, GA_x6K02T2Q125-47993761-47994702, Olfr1076

MMRRC Submission

038590-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R0384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86338805-86339746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86339727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 308 (I308K)

Ref Sequence

ENSEMBL: ENSMUSP00000075612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076263]

AlphaFold

A2AK60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076263
AA Change: I308K

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075612
Gene: ENSMUSG00000060742
AA Change: I308K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	4.6e-52	PFAM
Pfam:7tm_1	41	290	5e-21	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (72/72)

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
Adam8	T	A	7: 139,566,725 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,341,265 (GRCm39)		probably benign	Het
Arhgef39	A	G	4: 43,498,613 (GRCm39)	L117P	probably damaging	Het
Atp13a1	A	T	8: 70,249,974 (GRCm39)	Q356L	possibly damaging	Het
Bmp2k	T	A	5: 97,178,984 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,857,992 (GRCm39)	V1063A	probably damaging	Het
Col20a1	T	C	2: 180,640,955 (GRCm39)	Y568H	probably benign	Het
Crabp2	T	C	3: 87,860,328 (GRCm39)	V134A	possibly damaging	Het
Cyp19a1	T	C	9: 54,080,025 (GRCm39)	K265E	probably benign	Het
Cyp2j9	T	C	4: 96,474,122 (GRCm39)	H106R	probably benign	Het
Dcps	T	C	9: 35,087,239 (GRCm39)	K9R	probably damaging	Het
Dnajc6	C	T	4: 101,456,153 (GRCm39)	T47I	probably damaging	Het
Dnhd1	T	G	7: 105,369,321 (GRCm39)	S4315A	possibly damaging	Het
Dnmt3l	A	T	10: 77,888,571 (GRCm39)	I158F	possibly damaging	Het
Dock3	A	G	9: 106,779,094 (GRCm39)		probably benign	Het
Eefsec	A	G	6: 88,258,632 (GRCm39)		probably null	Het
Fam204a	T	C	19: 60,209,728 (GRCm39)	M1V	probably null	Het
Fam98b	T	C	2: 117,098,328 (GRCm39)	V266A	possibly damaging	Het
Fat2	A	T	11: 55,160,291 (GRCm39)	I3274N	possibly damaging	Het
Fbh1	A	G	2: 11,754,389 (GRCm39)	I198T	probably damaging	Het
Fer	T	C	17: 64,231,179 (GRCm39)		probably benign	Het
Fhad1	T	A	4: 141,729,737 (GRCm39)	M89L	probably benign	Het
Fjx1	C	A	2: 102,281,452 (GRCm39)	C161F	probably damaging	Het
Fkbp7	T	A	2: 76,496,168 (GRCm39)		probably benign	Het
Gm42669	T	A	5: 107,656,664 (GRCm39)	C976S	probably benign	Het
Gm4845	T	C	1: 141,184,823 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,388,332 (GRCm39)		probably benign	Het
Hook3	C	T	8: 26,534,263 (GRCm39)		probably null	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Itga2b	A	T	11: 102,356,188 (GRCm39)		probably null	Het
Klk1b21	T	C	7: 43,754,917 (GRCm39)	Y71H	probably benign	Het
Kndc1	A	T	7: 139,490,515 (GRCm39)	N339I	possibly damaging	Het
Ky	C	T	9: 102,419,289 (GRCm39)	T432I	probably benign	Het
Map4	C	T	9: 109,863,696 (GRCm39)	T307I	probably damaging	Het
Matn1	T	C	4: 130,671,787 (GRCm39)	L18P	probably benign	Het
Mindy4	G	A	6: 55,193,669 (GRCm39)	D121N	probably damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Msto1	G	A	3: 88,817,646 (GRCm39)	Q441*	probably null	Het
Muc5ac	A	G	7: 141,365,988 (GRCm39)	H2048R	possibly damaging	Het
Musk	T	C	4: 58,373,711 (GRCm39)	*879Q	probably null	Het
Nat8f2	T	C	6: 85,845,350 (GRCm39)	Y4C	possibly damaging	Het
Ncaph2	T	A	15: 89,253,594 (GRCm39)	I282N	probably benign	Het
Nid1	A	G	13: 13,638,421 (GRCm39)	T114A	probably benign	Het
Npr1	C	A	3: 90,372,474 (GRCm39)	G113C	probably damaging	Het
Nrxn1	G	A	17: 90,515,775 (GRCm39)	P193S	probably damaging	Het
Nwd2	T	C	5: 63,963,025 (GRCm39)	F870L	probably benign	Het
Or10h1b	A	G	17: 33,395,522 (GRCm39)	I45V	probably damaging	Het
Or4c122	A	G	2: 89,079,414 (GRCm39)	I208T	possibly damaging	Het
Or6c5c	T	A	10: 129,298,909 (GRCm39)	Y121*	probably null	Het
Phf14	A	G	6: 11,997,019 (GRCm39)		probably benign	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prdm2	T	C	4: 142,862,258 (GRCm39)	E344G	probably benign	Het
Psmd12	T	C	11: 107,376,547 (GRCm39)	V61A	probably benign	Het
Relt	T	C	7: 100,496,712 (GRCm39)	D385G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scg2	T	A	1: 79,413,266 (GRCm39)	I446F	probably benign	Het
Sema3b	G	A	9: 107,478,165 (GRCm39)	L407F	probably damaging	Het
Slc25a13	A	T	6: 6,042,600 (GRCm39)	Y601*	probably null	Het
Sun5	C	T	2: 153,700,885 (GRCm39)	V270I	probably benign	Het
Tex52	A	G	6: 128,356,496 (GRCm39)	Y63C	probably damaging	Het
Tmem138	A	G	19: 10,552,186 (GRCm39)		probably benign	Het
Tnpo3	A	G	6: 29,582,163 (GRCm39)		probably null	Het
Tspoap1	A	T	11: 87,657,280 (GRCm39)	Q364L	probably damaging	Het
Ttc41	T	C	10: 86,599,811 (GRCm39)	L1037P	probably damaging	Het
Ugcg	T	A	4: 59,220,387 (GRCm39)	D393E	possibly damaging	Het
Vmn1r184	T	C	7: 25,967,076 (GRCm39)	I274T	probably benign	Het
Vmn2r27	A	G	6: 124,200,871 (GRCm39)	V362A	probably benign	Het
Vmn2r87	T	A	10: 130,307,712 (GRCm39)	Y842F	probably benign	Het
Vps8	T	A	16: 21,325,575 (GRCm39)		probably benign	Het

Other mutations in Or8k30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Or8k30	APN	2	86,339,513 (GRCm39)	missense	possibly damaging	0.91
IGL03157:Or8k30	APN	2	86,339,367 (GRCm39)	missense	possibly damaging	0.95
ANU05:Or8k30	UTSW	2	86,339,513 (GRCm39)	missense	possibly damaging	0.91
IGL02802:Or8k30	UTSW	2	86,339,290 (GRCm39)	missense	probably benign
R0325:Or8k30	UTSW	2	86,339,549 (GRCm39)	missense	probably benign	0.14
R1164:Or8k30	UTSW	2	86,339,028 (GRCm39)	missense	probably damaging	1.00
R1618:Or8k30	UTSW	2	86,339,193 (GRCm39)	missense	probably damaging	1.00
R1915:Or8k30	UTSW	2	86,339,343 (GRCm39)	missense	probably damaging	1.00
R1999:Or8k30	UTSW	2	86,339,089 (GRCm39)	nonsense	probably null
R2093:Or8k30	UTSW	2	86,339,587 (GRCm39)	missense	probably damaging	0.99
R3824:Or8k30	UTSW	2	86,339,367 (GRCm39)	missense	possibly damaging	0.95
R4259:Or8k30	UTSW	2	86,339,343 (GRCm39)	missense	probably damaging	1.00
R4928:Or8k30	UTSW	2	86,339,469 (GRCm39)	missense	probably damaging	1.00
R4981:Or8k30	UTSW	2	86,339,171 (GRCm39)	missense	probably damaging	1.00
R4998:Or8k30	UTSW	2	86,339,699 (GRCm39)	missense	probably benign	0.00
R5783:Or8k30	UTSW	2	86,338,982 (GRCm39)	missense	probably damaging	1.00
R6384:Or8k30	UTSW	2	86,339,381 (GRCm39)	missense	probably benign
R6549:Or8k30	UTSW	2	86,339,726 (GRCm39)	missense	probably benign	0.00
R6893:Or8k30	UTSW	2	86,339,136 (GRCm39)	missense	probably damaging	1.00
R7145:Or8k30	UTSW	2	86,338,872 (GRCm39)	missense	probably damaging	1.00
R7157:Or8k30	UTSW	2	86,339,369 (GRCm39)	missense	probably damaging	0.99
R7555:Or8k30	UTSW	2	86,339,691 (GRCm39)	missense	probably damaging	0.99
R7611:Or8k30	UTSW	2	86,339,397 (GRCm39)	missense	possibly damaging	0.84
R7640:Or8k30	UTSW	2	86,339,287 (GRCm39)	missense	possibly damaging	0.90
R7724:Or8k30	UTSW	2	86,338,949 (GRCm39)	missense	probably damaging	1.00
R7965:Or8k30	UTSW	2	86,338,815 (GRCm39)	missense	probably benign
R8367:Or8k30	UTSW	2	86,339,025 (GRCm39)	missense	probably damaging	0.97
R9383:Or8k30	UTSW	2	86,338,854 (GRCm39)	missense	probably damaging	0.97
R9432:Or8k30	UTSW	2	86,338,914 (GRCm39)	missense	probably benign	0.06
R9695:Or8k30	UTSW	2	86,339,100 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCAAGATGAACTCTGCTGAGGGC -3'
(R):5'- CCCTGTGAAGTGAAGAAATATGTGTGCT -3'

Sequencing Primer
(F):5'- GGTCTCATCTGACAGTGGTC -3'
(R):5'- CTTTTCTTTGAGGAAACA -3'

Posted On

2013-04-24