Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02089:Or8h7'

279349

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8h7

Ensembl Gene

ENSMUSG00000075170

Gene Name

olfactory receptor family 8 subfamily H member 7

Synonyms

MOR206-2, GA_x6K02T2Q125-48376288-48375341, Olfr1097

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02089

Quality Score

Status

Chromosome

Chromosomal Location

86720570-86722507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86721460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 20 (S20P)

Ref Sequence

ENSEMBL: ENSMUSP00000150400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111576] [ENSMUST00000217403]

AlphaFold

A2AVA9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111576
AA Change: S20P

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107202
Gene: ENSMUSG00000075170
AA Change: S20P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	8e-52	PFAM
Pfam:7tm_1	41	312	4.2e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217403
AA Change: S20P

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330160F10Rik	C	T	11: 68,951,013 (GRCm39)		silent	Het
Adck1	G	T	12: 88,413,480 (GRCm39)	V271F	probably damaging	Het
Aggf1	T	C	13: 95,507,437 (GRCm39)	D116G	probably benign	Het
Anapc1	A	T	2: 128,505,853 (GRCm39)	V661E	probably damaging	Het
Apoa5	T	C	9: 46,180,437 (GRCm39)		probably null	Het
Atp8a2	C	T	14: 60,264,369 (GRCm39)		probably null	Het
Bnipl	A	T	3: 95,157,577 (GRCm39)		probably benign	Het
Cbs	T	G	17: 31,834,519 (GRCm39)	D490A	probably benign	Het
Chrdl1	G	T	X: 142,086,510 (GRCm39)	H199N	possibly damaging	Het
Dcaf1	C	T	9: 106,740,310 (GRCm39)	T1232I	probably benign	Het
Ddx19b	T	C	8: 111,735,477 (GRCm39)		probably benign	Het
Ephb4	A	G	5: 137,369,024 (GRCm39)	K805E	probably damaging	Het
Ergic3	A	G	2: 155,852,395 (GRCm39)	N135D	probably benign	Het
Fbxw18	C	T	9: 109,530,390 (GRCm39)	V74I	probably benign	Het
Fmo4	G	T	1: 162,626,649 (GRCm39)	T299N	probably benign	Het
Gmeb1	T	C	4: 131,953,147 (GRCm39)	K540E	probably damaging	Het
H60c	T	A	10: 3,209,826 (GRCm39)	S154C	possibly damaging	Het
Herc1	T	C	9: 66,388,151 (GRCm39)	L3812S	probably damaging	Het
Hipk3	T	C	2: 104,261,724 (GRCm39)	D937G	probably damaging	Het
Ift122	A	G	6: 115,902,398 (GRCm39)	D1079G	probably benign	Het
Il6st	T	C	13: 112,631,774 (GRCm39)	W438R	probably benign	Het
Lypla2	C	T	4: 135,696,932 (GRCm39)	V117I	probably benign	Het
Mapk8ip1	T	C	2: 92,216,220 (GRCm39)	Y516C	probably damaging	Het
Mmp24	G	A	2: 155,654,213 (GRCm39)	G397D	probably damaging	Het
Muc4	G	A	16: 32,570,131 (GRCm39)	S397N	possibly damaging	Het
Muc5b	T	G	7: 141,416,987 (GRCm39)	V3311G	probably benign	Het
Naca	A	G	10: 127,872,358 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 91,395,829 (GRCm39)	V109A	probably benign	Het
Nup210	T	G	6: 91,053,680 (GRCm39)	D279A	probably benign	Het
Or10g6	A	T	9: 39,934,066 (GRCm39)	I126F	probably damaging	Het
Pappa	T	A	4: 65,074,361 (GRCm39)	V305E	possibly damaging	Het
Pcdh19	A	T	X: 132,489,245 (GRCm39)	M977K	probably benign	Het
Pdzph1	T	A	17: 59,274,334 (GRCm39)	I837F	possibly damaging	Het
Phip	A	T	9: 82,753,372 (GRCm39)	L1791M	probably damaging	Het
Pkdrej	C	T	15: 85,700,489 (GRCm39)	V1816I	possibly damaging	Het
Ptprz1	G	A	6: 23,033,447 (GRCm39)	V1063M	probably damaging	Het
Qprt	A	T	7: 126,707,528 (GRCm39)	M220K	probably damaging	Het
R3hcc1	T	C	14: 69,937,475 (GRCm39)	K391E	possibly damaging	Het
Rbbp7	C	A	X: 161,554,052 (GRCm39)	P162Q	probably benign	Het
Rev3l	A	T	10: 39,701,095 (GRCm39)	N1864I	probably damaging	Het
Rims1	A	G	1: 22,669,556 (GRCm39)	I84T	possibly damaging	Het
Rnase2b	A	T	14: 51,400,240 (GRCm39)	K107I	probably benign	Het
Sbf1	C	A	15: 89,186,708 (GRCm39)	E864*	probably null	Het
Strip2	G	A	6: 29,917,179 (GRCm39)		probably benign	Het
Stx4a	T	C	7: 127,447,570 (GRCm39)	I238T	probably damaging	Het
Tbc1d2b	C	T	9: 90,104,412 (GRCm39)	V577I	possibly damaging	Het
Tex38	T	C	4: 115,637,591 (GRCm39)	T71A	possibly damaging	Het
Usp38	T	C	8: 81,712,343 (GRCm39)	E564G	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,374 (GRCm39)	V730E	probably benign	Het
Wwp2	T	A	8: 108,280,689 (GRCm39)	L644Q	probably damaging	Het
Zfp267	T	C	3: 36,218,877 (GRCm39)	F300S	possibly damaging	Het
Zpld1	A	G	16: 55,071,974 (GRCm39)	I95T	probably benign	Het

Other mutations in Or8h7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Or8h7	APN	2	86,720,589 (GRCm39)	missense	probably benign
IGL01674:Or8h7	APN	2	86,721,093 (GRCm39)	missense	probably benign
IGL02201:Or8h7	APN	2	86,721,420 (GRCm39)	missense	probably damaging	0.97
IGL02426:Or8h7	APN	2	86,720,964 (GRCm39)	missense	probably damaging	1.00
IGL02469:Or8h7	APN	2	86,721,499 (GRCm39)	missense	possibly damaging	0.91
IGL02489:Or8h7	APN	2	86,721,339 (GRCm39)	missense	probably damaging	1.00
IGL02817:Or8h7	APN	2	86,720,937 (GRCm39)	missense	probably benign
R0042:Or8h7	UTSW	2	86,720,835 (GRCm39)	missense	probably damaging	1.00
R0605:Or8h7	UTSW	2	86,720,763 (GRCm39)	missense	possibly damaging	0.65
R1867:Or8h7	UTSW	2	86,720,956 (GRCm39)	missense	probably damaging	0.98
R2412:Or8h7	UTSW	2	86,721,178 (GRCm39)	missense	probably benign	0.01
R4465:Or8h7	UTSW	2	86,721,494 (GRCm39)	missense	probably benign
R4520:Or8h7	UTSW	2	86,721,363 (GRCm39)	missense	probably benign	0.20
R5185:Or8h7	UTSW	2	86,720,946 (GRCm39)	missense	probably benign	0.42
R5329:Or8h7	UTSW	2	86,720,964 (GRCm39)	missense	probably damaging	1.00
R5496:Or8h7	UTSW	2	86,720,659 (GRCm39)	missense	probably damaging	1.00
R5496:Or8h7	UTSW	2	86,720,658 (GRCm39)	missense	probably damaging	1.00
R5847:Or8h7	UTSW	2	86,720,676 (GRCm39)	missense	probably damaging	0.99
R6288:Or8h7	UTSW	2	86,721,226 (GRCm39)	missense	probably benign	0.01
R6906:Or8h7	UTSW	2	86,721,091 (GRCm39)	missense	probably benign
R7161:Or8h7	UTSW	2	86,720,993 (GRCm39)	missense	probably benign	0.01
R7256:Or8h7	UTSW	2	86,720,956 (GRCm39)	missense	probably damaging	0.98
R7404:Or8h7	UTSW	2	86,721,217 (GRCm39)	missense	probably benign	0.05
R9236:Or8h7	UTSW	2	86,720,622 (GRCm39)	missense	probably benign
R9356:Or8h7	UTSW	2	86,720,605 (GRCm39)	missense	probably benign
R9542:Or8h7	UTSW	2	86,720,813 (GRCm39)	missense	probably benign	0.00
R9630:Or8h7	UTSW	2	86,720,956 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16