Mutagenetix > Incidental Mutation

Incidental Mutation 'R2093:Or8k30'

231893

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 #

R2093 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86338805-86339746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86339587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 261 (Q261H)

Ref Sequence

ENSEMBL: ENSMUSP00000075612 (fasta)

Gene Model

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

AlphaFold

A2AK60

Predicted Effect

probably damaging
Transcript: ENSMUST00000076263
AA Change: Q261H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075612
Gene: ENSMUSG00000060742
AA Change: Q261H

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,671,041 (GRCm39)	D421G	probably benign	Het
Adamts1	T	G	16: 85,599,333 (GRCm39)	Q89P	probably benign	Het
Arhgef10l	T	G	4: 140,297,601 (GRCm39)	N277T	possibly damaging	Het
Atp2c1	G	A	9: 105,295,320 (GRCm39)	R669*	probably null	Het
Brip1	T	C	11: 86,029,971 (GRCm39)	T558A	possibly damaging	Het
Cbr2	G	A	11: 120,621,255 (GRCm39)	T148I	probably benign	Het
Ccdc110	C	A	8: 46,395,114 (GRCm39)	T335K	probably damaging	Het
Cd44	T	G	2: 102,644,629 (GRCm39)	D731A	probably damaging	Het
Cnot1	T	C	8: 96,501,986 (GRCm39)	D44G	probably damaging	Het
Cnrip1	T	C	11: 17,002,237 (GRCm39)	V23A	probably damaging	Het
Cntnap5c	A	T	17: 58,505,995 (GRCm39)	H673L	probably benign	Het
Col3a1	C	T	1: 45,372,150 (GRCm39)	A493V	probably damaging	Het
Crem	A	T	18: 3,299,256 (GRCm39)	V19E	probably damaging	Het
Cyp2g1	A	G	7: 26,518,858 (GRCm39)	D418G	probably benign	Het
Dmrta1	A	T	4: 89,579,742 (GRCm39)	H234L	probably benign	Het
Drc3	C	T	11: 60,261,310 (GRCm39)	R154W	probably damaging	Het
Drgx	C	T	14: 32,369,112 (GRCm39)		probably benign	Het
Eef1d	A	G	15: 75,774,550 (GRCm39)	S370P	probably benign	Het
Fdx2	T	C	9: 20,984,720 (GRCm39)	H28R	probably benign	Het
Fmo5	A	G	3: 97,553,194 (GRCm39)	I381V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fras1	T	C	5: 96,929,062 (GRCm39)	L3822P	probably damaging	Het
Gm3604	G	T	13: 62,517,420 (GRCm39)	H313N	possibly damaging	Het
Heatr4	T	C	12: 84,021,855 (GRCm39)	E460G	possibly damaging	Het
Ino80	T	A	2: 119,257,151 (GRCm39)	H834L	possibly damaging	Het
Insr	A	T	8: 3,254,762 (GRCm39)	C331S	probably damaging	Het
Itih4	C	T	14: 30,613,694 (GRCm39)	L304F	probably damaging	Het
Klhdc3	C	T	17: 46,988,879 (GRCm39)	V104I	probably benign	Het
Lrp2	C	T	2: 69,366,365 (GRCm39)	D245N	probably benign	Het
Map1b	T	C	13: 99,566,178 (GRCm39)	E2181G	unknown	Het
Map2	T	C	1: 66,438,599 (GRCm39)	V41A	probably damaging	Het
Mical3	A	T	6: 121,017,347 (GRCm39)	H156Q	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Myo5b	T	A	18: 74,892,263 (GRCm39)	L1669Q	probably damaging	Het
Nme8	G	A	13: 19,835,042 (GRCm39)	S548F	probably damaging	Het
Npas1	A	T	7: 16,193,202 (GRCm39)	N408K	probably benign	Het
Or1j11	A	T	2: 36,311,941 (GRCm39)	Y177F	probably benign	Het
Pcnx4	T	C	12: 72,626,216 (GRCm39)	Y1141H	probably damaging	Het
Pmaip1	C	A	18: 66,594,052 (GRCm39)	P64Q	probably damaging	Het
Ranbp3	T	A	17: 57,017,145 (GRCm39)	M387K	probably damaging	Het
Rbm4	A	G	19: 4,837,792 (GRCm39)	Y231H	probably damaging	Het
Rpgrip1l	T	C	8: 91,996,760 (GRCm39)	S105G	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rtn3	A	T	19: 7,434,215 (GRCm39)	D573E	probably damaging	Het
Rxrg	T	C	1: 167,454,893 (GRCm39)	C159R	probably damaging	Het
Sdk2	T	C	11: 113,833,948 (GRCm39)	Y78C	probably damaging	Het
Smu1	A	G	4: 40,738,438 (GRCm39)	V432A	probably benign	Het
Spag1	T	C	15: 36,224,276 (GRCm39)	L609P	probably damaging	Het
Spata21	T	G	4: 140,824,277 (GRCm39)	V180G	probably benign	Het
Spata31e2	G	T	1: 26,721,222 (GRCm39)	Y1319*	probably null	Het
Sptlc3	A	T	2: 139,467,794 (GRCm39)	I451F	possibly damaging	Het
Srl	A	G	16: 4,340,896 (GRCm39)	C8R	unknown	Het
Tmprss13	A	G	9: 45,256,340 (GRCm39)	R485G	probably damaging	Het
Trpv4	C	T	5: 114,773,565 (GRCm39)	A266T	probably damaging	Het
Vmn1r198	A	G	13: 22,538,855 (GRCm39)	T25A	probably benign	Het
Vmn2r77	T	C	7: 86,450,702 (GRCm39)	V196A	probably benign	Het
Vmn2r82	C	T	10: 79,231,813 (GRCm39)	T604I	probably benign	Het
Zfp268	C	A	4: 145,349,139 (GRCm39)	T192N	probably benign	Het
Zfp354a	C	T	11: 50,960,551 (GRCm39)	T254I	probably 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
IGL02802:Or8k30	UTSW	2	86,339,290 (GRCm39)	missense	probably benign
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
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'- ATTGTGATGGTCTCCCCTTGATATC -3'
(R):5'- CCTTAAATAACGTGTGTTCTAGGAG -3'

Sequencing Primer
(F):5'- CTCTGCTCTGCTCAAATAAAAAGG -3'
(R):5'- CGTGTGTTCTAGGAGAAGATATTTTG -3'

Posted On

2014-09-18