Mutagenetix > Incidental Mutation

Incidental Mutation 'R0042:Or8h7'

63235

Institutional Source

Beutler Lab

Gene Symbol

Or8h7

Ensembl Gene

ENSMUSG00000075170

Gene Name

olfactory receptor family 8 subfamily H member 7

Synonyms

MOR206-2, GA_x6K02T2Q125-48376288-48375341, Olfr1097

MMRRC Submission

038336-MU

Accession Numbers

Essential gene?

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

Stock #

R0042 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

86720570-86722507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86720835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 228 (I228T)

Ref Sequence

ENSEMBL: ENSMUSP00000150400 (fasta)

Gene Model

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

AlphaFold

A2AVA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000111576
AA Change: I228T

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

SMART Domains

Protein: ENSMUSP00000107202
Gene: ENSMUSG00000075170
AA Change: I228T

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

probably damaging
Transcript: ENSMUST00000217403
AA Change: I228T

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

Meta Mutation Damage Score

0.2229

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (71/71)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,059,245 (GRCm39)		probably benign	Het
Acr	T	A	15: 89,458,535 (GRCm39)	H405Q	probably benign	Het
Adad1	T	C	3: 37,137,322 (GRCm39)		probably benign	Het
Alox5ap	T	C	5: 149,216,069 (GRCm39)		probably benign	Het
Ank2	T	C	3: 126,730,280 (GRCm39)	D3568G	probably damaging	Het
Atl3	T	G	19: 7,506,388 (GRCm39)	I306S	probably damaging	Het
Atr	T	A	9: 95,809,409 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,326,335 (GRCm39)	V34A	probably benign	Het
Cdh12	A	C	15: 21,537,763 (GRCm39)		probably benign	Het
Cib1	C	T	7: 79,880,126 (GRCm39)	V45M	probably benign	Het
Col6a6	T	C	9: 105,657,896 (GRCm39)	E772G	possibly damaging	Het
Dmxl1	C	A	18: 49,997,102 (GRCm39)	T466K	probably benign	Het
Dym	T	C	18: 75,258,610 (GRCm39)		probably null	Het
Enpp3	A	C	10: 24,650,722 (GRCm39)	F805V	probably damaging	Het
Eya1	T	C	1: 14,254,713 (GRCm39)	D373G	probably damaging	Het
Gpr179	C	T	11: 97,225,757 (GRCm39)	V2133I	probably benign	Het
Grb10	G	T	11: 11,886,798 (GRCm39)	H435Q	probably damaging	Het
Gzmm	T	C	10: 79,530,399 (GRCm39)	I190T	probably benign	Het
Helt	T	C	8: 46,745,433 (GRCm39)	Y150C	probably damaging	Het
Hrg	A	T	16: 22,779,886 (GRCm39)		probably benign	Het
Il17ra	T	C	6: 120,449,086 (GRCm39)		probably benign	Het
Inhbc	A	G	10: 127,193,302 (GRCm39)	I238T	probably benign	Het
Itgb3	A	G	11: 104,557,966 (GRCm39)	T787A	possibly damaging	Het
Jakmip2	T	G	18: 43,685,210 (GRCm39)		probably benign	Het
Krt4	T	G	15: 101,831,187 (GRCm39)		probably benign	Het
Lgsn	C	T	1: 31,229,534 (GRCm39)	T85I	probably benign	Het
Metap1	C	T	3: 138,177,918 (GRCm39)	V217I	probably benign	Het
Mib2	A	T	4: 155,743,897 (GRCm39)	C48*	probably null	Het
Mroh4	T	A	15: 74,482,154 (GRCm39)	I768F	probably damaging	Het
Npas3	T	A	12: 54,095,624 (GRCm39)	D361E	probably damaging	Het
Obscn	A	G	11: 58,943,411 (GRCm39)	L4246P	probably damaging	Het
Or4a78	A	C	2: 89,497,798 (GRCm39)	V144G	probably benign	Het
Or7e169	A	G	9: 19,757,075 (GRCm39)	M280T	probably benign	Het
P4hb	G	A	11: 120,459,092 (GRCm39)	R134C	probably damaging	Het
Plcb3	T	C	19: 6,943,788 (GRCm39)	D71G	probably damaging	Het
Prex2	T	A	1: 11,150,305 (GRCm39)	V159E	probably damaging	Het
Prpsap1	T	A	11: 116,370,482 (GRCm39)	K158N	probably benign	Het
Prr35	C	A	17: 26,166,956 (GRCm39)	E194*	probably null	Het
Ptger1	G	T	8: 84,394,795 (GRCm39)	V91L	probably benign	Het
Rdh10	T	C	1: 16,178,260 (GRCm39)		probably benign	Het
Rgs9bp	C	A	7: 35,284,458 (GRCm39)	R63L	probably damaging	Het
Slc13a5	A	T	11: 72,149,940 (GRCm39)	V173E	probably benign	Het
Spata31	A	T	13: 65,070,377 (GRCm39)	I842L	probably benign	Het
Stk32b	A	C	5: 37,874,092 (GRCm39)	D13E	probably benign	Het
Svep1	T	C	4: 58,123,192 (GRCm39)	D708G	possibly damaging	Het
Taar6	T	C	10: 23,861,021 (GRCm39)	D175G	probably benign	Het
Thbs1	A	C	2: 117,953,358 (GRCm39)	D925A	probably damaging	Het
Tnr	A	T	1: 159,714,595 (GRCm39)	T825S	probably benign	Het
Ttc23l	A	C	15: 10,551,627 (GRCm39)	L33W	probably damaging	Het
Ttc39d	T	C	17: 80,523,379 (GRCm39)	Y13H	probably benign	Het
Vmn2r102	C	A	17: 19,880,851 (GRCm39)	P64Q	probably damaging	Het
Vps11	G	T	9: 44,267,588 (GRCm39)	Y341*	probably null	Het
Vsig8	T	C	1: 172,387,925 (GRCm39)	V5A	possibly damaging	Het
Vwce	C	T	19: 10,624,177 (GRCm39)	A356V	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
IGL02089:Or8h7	APN	2	86,721,460 (GRCm39)	missense	possibly damaging	0.86
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
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

Predicted Primers

PCR Primer
(F):5'- AGTCTGTCAGTTTTGTGCCAAGAGAG -3'
(R):5'- CGTCAATGGCCTATGACCGCTATG -3'

Sequencing Primer
(F):5'- TTTTGTGCCAAGAGAGAAGCTG -3'
(R):5'- CTGGATTTCTGCAACTCCAAAG -3'

Posted On

2013-07-30