Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:Or8k30'

392070

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

Accession Numbers

Essential gene?

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

Stock #

IGL02802 (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 86339290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 162 (N162K)

Ref Sequence

ENSEMBL: ENSMUSP00000075612 (fasta)

Gene Model

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

AlphaFold

A2AK60

Predicted Effect

probably benign
Transcript: ENSMUST00000076263
AA Change: N162K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075612
Gene: ENSMUSG00000060742
AA Change: N162K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217442

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	C	1: 130,671,130 (GRCm39)	T451P	probably benign	Het
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,531,804 (GRCm39)	K349E	probably damaging	Het
Bsnd	T	A	4: 106,349,231 (GRCm39)	D3V	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,612,679 (GRCm39)	F906S	probably benign	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,317,431 (GRCm39)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Klc3	A	T	7: 19,129,049 (GRCm39)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5m12	A	G	2: 85,734,733 (GRCm39)	S222P	probably damaging	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
P4htm	C	T	9: 108,460,055 (GRCm39)	D240N	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,622,654 (GRCm39)	M18L	probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Vps72	T	A	3: 95,026,545 (GRCm39)	C163*	probably null	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly damaging	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
R0325:Or8k30	UTSW	2	86,339,549 (GRCm39)	missense	probably benign	0.14
R0384:Or8k30	UTSW	2	86,339,727 (GRCm39)	missense	possibly damaging	0.80
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'- ATTCAACAGCTGTGGGACC -3'
(R):5'- CCCTCAGCAGAGTTCATCTTG -3'

Sequencing Primer
(F):5'- TTCAACAGCTGTGGGACCAAAAATG -3'
(R):5'- CAGCAGAGTTCATCTTGAGAATAGC -3'

Posted On

2016-06-09