Mutagenetix > Incidental Mutation

Incidental Mutation 'R7256:Or8h7'

564244

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

045317-MU

Accession Numbers

Essential gene?

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

Stock #

R7256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86720570-86722507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86720956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 188 (S188P)

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: S188P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107202
Gene: ENSMUSG00000075170
AA Change: S188P

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: S188P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.3121

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,659,923 (GRCm39)	Y790H	probably damaging	Het
Bend3	A	C	10: 43,369,667 (GRCm39)	S7R	probably benign	Het
Ccdc106	A	G	7: 5,063,325 (GRCm39)	T277A	probably damaging	Het
Ccdc162	G	A	10: 41,431,997 (GRCm39)	A1832V	probably damaging	Het
Ccser1	A	G	6: 61,288,851 (GRCm39)	E338G	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cecr2	T	C	6: 120,739,490 (GRCm39)	S1406P	probably benign	Het
Cep290	A	G	10: 100,382,360 (GRCm39)	T208A	probably damaging	Het
Cep85l	A	C	10: 53,172,351 (GRCm39)	C569W	probably damaging	Het
Ces5a	G	A	8: 94,226,154 (GRCm39)	T527I	probably benign	Het
Clca3a2	T	A	3: 144,796,608 (GRCm39)	I200F	probably damaging	Het
Cmas	G	A	6: 142,716,312 (GRCm39)	D251N	probably damaging	Het
Ctcfl	G	T	2: 172,960,268 (GRCm39)	A105E	probably benign	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dctn6	A	T	8: 34,557,962 (GRCm39)	I170N	probably damaging	Het
Dnah2	T	C	11: 69,321,920 (GRCm39)	Y3800C	probably damaging	Het
Dsg2	G	A	18: 20,724,988 (GRCm39)	V465I	possibly damaging	Het
Dzip1	T	C	14: 119,123,058 (GRCm39)	T646A	probably benign	Het
Etv4	T	A	11: 101,675,151 (GRCm39)		probably null	Het
Exoc3l2	T	C	7: 19,218,628 (GRCm39)	V549A	unknown	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
Fry	T	G	5: 150,390,251 (GRCm39)	I179S		Het
Galntl5	A	G	5: 25,400,298 (GRCm39)	H109R	probably benign	Het
Garem1	C	A	18: 21,281,811 (GRCm39)	G182W	probably damaging	Het
Gm5916	A	T	9: 36,032,285 (GRCm39)	Y50N	possibly damaging	Het
Gtf2h2	A	T	13: 100,615,709 (GRCm39)	F271I	probably benign	Het
Hivep2	G	T	10: 14,004,845 (GRCm39)	S481I	probably benign	Het
Homez	T	A	14: 55,094,877 (GRCm39)	Q277L	probably damaging	Het
Hoxb4	C	A	11: 96,210,722 (GRCm39)		probably null	Het
Igll1	A	G	16: 16,678,957 (GRCm39)	S118P	probably damaging	Het
Ikzf2	A	C	1: 69,617,212 (GRCm39)		probably null	Het
Kif5b	A	G	18: 6,225,340 (GRCm39)	V230A	probably damaging	Het
Ldlr	T	A	9: 21,657,040 (GRCm39)	V719E	probably benign	Het
Lsm7	G	A	10: 80,689,565 (GRCm39)	R66W	possibly damaging	Het
Map3k13	T	A	16: 21,710,988 (GRCm39)	D90E	probably benign	Het
Mmrn1	A	G	6: 60,953,098 (GRCm39)	K460E	probably damaging	Het
Myh10	A	C	11: 68,681,515 (GRCm39)	N1061H	probably damaging	Het
Nepn	A	G	10: 52,277,089 (GRCm39)	Q275R	probably benign	Het
Noc3l	A	T	19: 38,800,800 (GRCm39)	D227E	probably benign	Het
Nploc4	G	T	11: 120,319,376 (GRCm39)	S61R	probably benign	Het
Nr4a2	T	C	2: 57,002,381 (GRCm39)	Y24C	probably damaging	Het
Nup160	T	A	2: 90,553,699 (GRCm39)	I1143N	probably damaging	Het
Or14a256	G	T	7: 86,264,873 (GRCm39)	H327N	probably benign	Het
Or4a15	A	T	2: 89,192,838 (GRCm39)	Y312N	probably benign	Het
Or8c17	T	A	9: 38,180,004 (GRCm39)	M57K	probably damaging	Het
Papola	T	A	12: 105,775,604 (GRCm39)	C204S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgap1	A	T	1: 54,532,366 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,606,633 (GRCm39)	H229R	probably damaging	Het
Plcl1	A	G	1: 55,737,377 (GRCm39)	Q906R	probably benign	Het
Ppfia3	T	C	7: 44,991,167 (GRCm39)	N1018S	probably benign	Het
Pramel24	T	A	4: 143,452,849 (GRCm39)	D93E	probably benign	Het
Prkd1	A	G	12: 50,435,125 (GRCm39)	V534A	possibly damaging	Het
Pygm	A	T	19: 6,435,926 (GRCm39)	I126F	probably benign	Het
Rag1	T	C	2: 101,472,415 (GRCm39)	Y909C	probably damaging	Het
Rasgrf2	G	A	13: 92,032,637 (GRCm39)	Q560*	probably null	Het
Rbp3	A	T	14: 33,684,540 (GRCm39)	I1190F	possibly damaging	Het
Reln	T	C	5: 22,183,921 (GRCm39)	K1693E	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rsph3a	A	G	17: 8,165,002 (GRCm39)	T121A	probably benign	Het
Rufy3	A	G	5: 88,762,806 (GRCm39)	N112S	possibly damaging	Het
Ryr3	G	A	2: 112,502,591 (GRCm39)	Q3548*	probably null	Het
Sardh	A	T	2: 27,108,824 (GRCm39)	V637D	probably benign	Het
Spata16	T	C	3: 26,722,016 (GRCm39)	V179A	probably benign	Het
Spopfm2	T	C	3: 94,083,667 (GRCm39)	E48G	probably benign	Het
Tbc1d30	G	A	10: 121,124,870 (GRCm39)	T319I	probably damaging	Het
Tlr2	T	A	3: 83,744,913 (GRCm39)	Q390L	possibly damaging	Het
Tmem53	C	T	4: 117,109,237 (GRCm39)		probably null	Het
Vmn1r113	T	A	7: 20,521,370 (GRCm39)	I54N	probably damaging	Het
Vmn1r223	A	C	13: 23,434,036 (GRCm39)	Y210S	probably damaging	Het
Zbbx	A	T	3: 74,947,205 (GRCm39)	H670Q	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
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
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'- ACTCCTATAAGATGTGAGGCAC -3'
(R):5'- TTTCGTCAATGGCCTATGACCG -3'

Sequencing Primer
(F):5'- CACATGTAGAGAAGGCTTTGTGC -3'
(R):5'- AATGGCCTATGACCGCTATG -3'

Posted On

2019-06-26