Mutagenetix > Incidental Mutation

Incidental Mutation 'R5874:Or8h10'

455363

Institutional Source

Beutler Lab

Gene Symbol

Or8h10

Ensembl Gene

ENSMUSG00000070875

Gene Name

olfactory receptor family 8 subfamily H member 10

Synonyms

Olfr1100, GA_x6K02T2Q125-48465387-48464422, MOR206-4

MMRRC Submission

044081-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86808173-86809138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86808786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 118 (M118K)

Ref Sequence

ENSEMBL: ENSMUSP00000151088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094913] [ENSMUST00000117211]

AlphaFold

Q8VFM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094913
AA Change: M118K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092517
Gene: ENSMUSG00000070875
AA Change: M118K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.7e-51	PFAM
Pfam:7tm_1	41	314	2.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117211
AA Change: M118K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.4921

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

98% (86/88)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	A	7: 29,280,610 (GRCm39)		noncoding transcript	Het
Adam17	T	C	12: 21,379,087 (GRCm39)	D654G	possibly damaging	Het
Ankhd1	A	T	18: 36,773,322 (GRCm39)	H1373L	possibly damaging	Het
Ankrd17	T	C	5: 90,416,656 (GRCm39)		probably benign	Het
Calu	A	G	6: 29,372,617 (GRCm39)	D112G	probably damaging	Het
Camk2a	G	C	18: 61,076,272 (GRCm39)		probably benign	Het
Cpn1	C	A	19: 43,944,951 (GRCm39)	R452L	probably benign	Het
Csmd3	T	A	15: 47,507,666 (GRCm39)	E2780V	probably damaging	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cuedc2	C	T	19: 46,319,824 (GRCm39)	V164M	possibly damaging	Het
Cyp2d34	T	A	15: 82,503,243 (GRCm39)	D74V	probably benign	Het
Ddi2	A	G	4: 141,422,780 (GRCm39)	S311P	probably damaging	Het
Ddx10	A	C	9: 53,140,498 (GRCm39)	I301R	possibly damaging	Het
Dmpk	T	C	7: 18,826,007 (GRCm39)		probably benign	Het
Dnah7b	C	T	1: 46,230,885 (GRCm39)	T1381I	probably damaging	Het
Dst	T	A	1: 34,218,670 (GRCm39)	N1703K	probably damaging	Het
Dtwd1	T	A	2: 126,000,359 (GRCm39)	H98Q	probably damaging	Het
Ecel1	A	C	1: 87,075,731 (GRCm39)	V769G	probably benign	Het
Eno4	T	C	19: 58,935,238 (GRCm39)	V150A	probably benign	Het
Evc2	C	T	5: 37,574,883 (GRCm39)		probably benign	Het
Ext1	T	A	15: 52,965,148 (GRCm39)	Q406L	possibly damaging	Het
Foxf2	A	G	13: 31,810,775 (GRCm39)	H238R	probably benign	Het
Frem2	C	G	3: 53,444,910 (GRCm39)	G2407A	probably benign	Het
Fzd10	A	G	5: 128,678,364 (GRCm39)	E28G	probably benign	Het
Galnt15	T	C	14: 31,774,324 (GRCm39)	F363L	probably damaging	Het
Gm1758	C	T	16: 14,325,037 (GRCm39)		noncoding transcript	Het
Gm5866	C	T	5: 52,739,956 (GRCm39)		noncoding transcript	Het
Heatr9	T	A	11: 83,405,426 (GRCm39)	M345L	probably benign	Het
Il23r	A	T	6: 67,408,629 (GRCm39)	F404Y	possibly damaging	Het
Lrrc8a	T	C	2: 30,147,148 (GRCm39)	I654T	probably damaging	Het
Napg	A	T	18: 63,111,091 (GRCm39)	K18*	probably null	Het
Ndst3	A	T	3: 123,355,556 (GRCm39)	W573R	probably damaging	Het
Nin	T	C	12: 70,077,692 (GRCm39)	S1038G	possibly damaging	Het
Nudt12	T	A	17: 59,317,279 (GRCm39)	R123*	probably null	Het
Oas1g	T	A	5: 121,015,081 (GRCm39)	N361Y	probably benign	Het
Or5p51	T	A	7: 107,444,377 (GRCm39)	I188L	probably benign	Het
Or7a35	T	A	10: 78,853,191 (GRCm39)	F12I	possibly damaging	Het
Osbpl10	T	C	9: 115,055,828 (GRCm39)	F667L	probably damaging	Het
Phldb2	T	C	16: 45,621,988 (GRCm39)	D664G	probably damaging	Het
Piezo2	C	T	18: 63,160,972 (GRCm39)	V2263M	probably damaging	Het
Pkd1l1	A	G	11: 8,858,688 (GRCm39)	L615P	probably damaging	Het
Pnpla7	G	A	2: 24,901,661 (GRCm39)	M562I	probably benign	Het
Pou2af2	A	T	9: 51,201,672 (GRCm39)	L128*	probably null	Het
Ppp1r13b	C	A	12: 111,811,423 (GRCm39)	R155L	probably damaging	Het
Pygb	C	T	2: 150,628,798 (GRCm39)	P4L	probably benign	Het
Rbm44	T	C	1: 91,084,562 (GRCm39)		probably null	Het
Rilpl2	T	C	5: 124,607,876 (GRCm39)	T115A	probably benign	Het
Rin3	A	G	12: 102,356,102 (GRCm39)	Y801C	probably damaging	Het
Rnf112	A	G	11: 61,340,273 (GRCm39)	V619A	probably damaging	Het
Rnf182	A	G	13: 43,821,563 (GRCm39)	E38G	probably benign	Het
Scgb2b24	T	A	7: 33,436,830 (GRCm39)	Y94F	probably damaging	Het
Serac1	C	A	17: 6,094,188 (GRCm39)		probably benign	Het
Shld2	T	C	14: 33,967,215 (GRCm39)	T114A	probably benign	Het
Slc6a19	A	T	13: 73,832,487 (GRCm39)	V402D	probably damaging	Het
Slco1a8	A	T	6: 141,917,961 (GRCm39)	H638Q	probably benign	Het
Slco2b1	T	A	7: 99,316,301 (GRCm39)	M410L	probably benign	Het
Smarca2	T	C	19: 26,753,469 (GRCm39)		probably benign	Het
Sned1	A	G	1: 93,193,067 (GRCm39)	Y409C	probably damaging	Het
Sorcs2	A	G	5: 36,386,555 (GRCm39)	V161A	probably damaging	Het
Spring1	T	C	5: 118,397,504 (GRCm39)	V162A	probably damaging	Het
Sptb	T	C	12: 76,645,501 (GRCm39)	E2029G	possibly damaging	Het
Stx7	T	A	10: 24,058,659 (GRCm39)		probably null	Het
Taf4b	T	C	18: 14,937,611 (GRCm39)	V228A	probably benign	Het
Tbc1d1	A	G	5: 64,507,273 (GRCm39)	*1163W	probably null	Het
Tor4a	G	A	2: 25,084,847 (GRCm39)	A352V	probably damaging	Het
Trpm4	A	G	7: 44,977,173 (GRCm39)	F81S	probably damaging	Het
Ttn	T	A	2: 76,780,436 (GRCm39)	D1105V	probably damaging	Het
Vcf1	T	A	11: 113,568,220 (GRCm39)	R78S	probably damaging	Het
Yju2b	T	A	8: 84,985,177 (GRCm39)	D364V	possibly damaging	Het
Zfp551	A	G	7: 12,150,101 (GRCm39)	L436P	probably damaging	Het
Zfp975	G	T	7: 42,312,312 (GRCm39)	D100E	probably benign	Het
Zswim3	A	G	2: 164,662,032 (GRCm39)	I171V	probably benign	Het
Zwint	C	T	10: 72,492,294 (GRCm39)		probably benign	Het

Other mutations in Or8h10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02387:Or8h10	APN	2	86,808,193 (GRCm39)	nonsense	probably null
R0102:Or8h10	UTSW	2	86,808,549 (GRCm39)	missense	possibly damaging	0.90
R0477:Or8h10	UTSW	2	86,808,567 (GRCm39)	missense	probably damaging	0.99
R0586:Or8h10	UTSW	2	86,809,126 (GRCm39)	missense	probably damaging	0.99
R0743:Or8h10	UTSW	2	86,808,843 (GRCm39)	missense	probably benign	0.12
R1163:Or8h10	UTSW	2	86,809,020 (GRCm39)	missense	probably damaging	1.00
R1640:Or8h10	UTSW	2	86,808,963 (GRCm39)	missense	probably damaging	1.00
R2865:Or8h10	UTSW	2	86,808,805 (GRCm39)	missense	possibly damaging	0.56
R4478:Or8h10	UTSW	2	86,808,562 (GRCm39)	missense	probably benign
R4548:Or8h10	UTSW	2	86,809,014 (GRCm39)	missense	probably damaging	0.98
R4618:Or8h10	UTSW	2	86,808,618 (GRCm39)	missense	possibly damaging	0.87
R4829:Or8h10	UTSW	2	86,808,918 (GRCm39)	missense	probably damaging	0.99
R4858:Or8h10	UTSW	2	86,808,693 (GRCm39)	missense	probably damaging	1.00
R5071:Or8h10	UTSW	2	86,808,666 (GRCm39)	missense	possibly damaging	0.88
R5072:Or8h10	UTSW	2	86,808,666 (GRCm39)	missense	possibly damaging	0.88
R5073:Or8h10	UTSW	2	86,808,666 (GRCm39)	missense	possibly damaging	0.88
R5074:Or8h10	UTSW	2	86,808,666 (GRCm39)	missense	possibly damaging	0.88
R5574:Or8h10	UTSW	2	86,808,867 (GRCm39)	missense	probably benign	0.00
R5735:Or8h10	UTSW	2	86,809,044 (GRCm39)	missense	probably benign	0.08
R6228:Or8h10	UTSW	2	86,809,035 (GRCm39)	missense	probably damaging	1.00
R6689:Or8h10	UTSW	2	86,808,498 (GRCm39)	missense	probably benign	0.36
R6979:Or8h10	UTSW	2	86,808,577 (GRCm39)	missense	probably damaging	1.00
R7006:Or8h10	UTSW	2	86,808,303 (GRCm39)	missense	probably damaging	0.99
R7274:Or8h10	UTSW	2	86,808,867 (GRCm39)	missense	probably benign	0.00
R7399:Or8h10	UTSW	2	86,808,501 (GRCm39)	missense	probably benign	0.19
R7560:Or8h10	UTSW	2	86,809,122 (GRCm39)	missense	probably benign	0.00
R7765:Or8h10	UTSW	2	86,808,538 (GRCm39)	missense	probably damaging	0.98
R8381:Or8h10	UTSW	2	86,808,373 (GRCm39)	missense	probably benign	0.36
R8390:Or8h10	UTSW	2	86,808,501 (GRCm39)	missense	probably benign	0.19
R8694:Or8h10	UTSW	2	86,808,591 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTAAAATTGGGGATGTGTCAC -3'
(R):5'- GCTCAGCTTCACACTCCAATG -3'

Sequencing Primer
(F):5'- CCTTGGTTCTGCAGAAAT -3'
(R):5'- ACACTCCAATGTACTTCTTCCTAAG -3'

Posted On

2017-02-10