Mutagenetix > Incidental Mutation

Incidental Mutation 'R0477:Or8h10'

41833

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

038677-MU

Accession Numbers

Essential gene?

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

Stock #

R0477 (G1)

Quality Score

174

Status

Validated (trace)

Chromosome

Chromosomal Location

86808173-86809138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86808567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 191 (D191V)

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: D191V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092517
Gene: ENSMUSG00000070875
AA Change: D191V

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: D191V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.2647

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

Validation Efficiency

98% (57/58)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	T	11: 117,693,787 (GRCm39)	I85F	probably benign	Het
Abca8a	T	A	11: 109,956,051 (GRCm39)	I778L	probably benign	Het
Abcc5	T	C	16: 20,187,319 (GRCm39)	N889S	possibly damaging	Het
Abcc5	T	C	16: 20,217,635 (GRCm39)	N359D	probably damaging	Het
Adam23	A	G	1: 63,596,559 (GRCm39)		probably benign	Het
Adamts3	A	T	5: 89,832,366 (GRCm39)	D913E	probably benign	Het
Ap1b1	G	T	11: 4,981,787 (GRCm39)	C538F	probably benign	Het
Ash1l	T	A	3: 88,890,766 (GRCm39)	S882T	probably benign	Het
C9	A	T	15: 6,487,664 (GRCm39)	E43D	probably benign	Het
Cacna2d1	T	C	5: 16,399,796 (GRCm39)		probably null	Het
Ces2a	A	G	8: 105,464,169 (GRCm39)	E267G	probably damaging	Het
Cfap61	A	G	2: 145,781,836 (GRCm39)	D23G	probably damaging	Het
Col9a3	T	G	2: 180,251,263 (GRCm39)		probably benign	Het
Cstl1	T	C	2: 148,592,908 (GRCm39)	V21A	probably benign	Het
Cth	A	T	3: 157,610,812 (GRCm39)	L340Q	probably damaging	Het
Dnah8	T	A	17: 30,974,054 (GRCm39)	M2813K	probably damaging	Het
Fam107a	A	T	14: 8,301,168 (GRCm38)	Y21N	probably benign	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Fer1l4	A	G	2: 155,894,806 (GRCm39)	V21A	probably benign	Het
Foxc2	A	T	8: 121,844,774 (GRCm39)	Y474F	probably damaging	Het
Hnf4g	G	T	3: 3,716,851 (GRCm39)		probably benign	Het
Hnrnpll	T	C	17: 80,369,261 (GRCm39)	D54G	unknown	Het
Hydin	A	G	8: 111,145,130 (GRCm39)	Y827C	probably damaging	Het
Il23r	A	G	6: 67,429,361 (GRCm39)	V327A	probably benign	Het
Itih4	T	A	14: 30,611,631 (GRCm39)	V118D	probably damaging	Het
Kmt2d	G	A	15: 98,751,462 (GRCm39)		probably benign	Het
Lamb1	A	G	12: 31,376,268 (GRCm39)	D1546G	possibly damaging	Het
Large1	A	T	8: 73,544,710 (GRCm39)	D689E	probably damaging	Het
Map1a	T	C	2: 121,132,582 (GRCm39)	S895P	probably damaging	Het
Mdn1	A	C	4: 32,750,928 (GRCm39)	E4487A	probably benign	Het
Myo15a	T	C	11: 60,411,740 (GRCm39)		probably null	Het
Nlrp4f	C	A	13: 65,338,720 (GRCm39)	R639L	probably benign	Het
Or4f52	A	G	2: 111,062,009 (GRCm39)	F43S	probably benign	Het
Pcdh9	T	C	14: 94,125,114 (GRCm39)	N229S	probably damaging	Het
Pcnx2	A	G	8: 126,488,306 (GRCm39)	V1746A	probably damaging	Het
Phf12	A	T	11: 77,913,896 (GRCm39)	H446L	possibly damaging	Het
Phlpp2	A	G	8: 110,622,138 (GRCm39)		probably null	Het
Psmb9	A	C	17: 34,401,238 (GRCm39)	V207G	probably damaging	Het
Ptprh	C	A	7: 4,600,997 (GRCm39)	D127Y	possibly damaging	Het
Rabep1	T	G	11: 70,811,733 (GRCm39)	M535R	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scin	T	C	12: 40,110,515 (GRCm39)	D711G	probably damaging	Het
Slfn4	T	C	11: 83,079,507 (GRCm39)	I6T	probably benign	Het
Sos1	T	A	17: 80,742,363 (GRCm39)	E388V	possibly damaging	Het
Spag5	A	C	11: 78,205,024 (GRCm39)	Q603P	probably damaging	Het
Supv3l1	G	T	10: 62,266,364 (GRCm39)	T604N	probably damaging	Het
Tbx5	A	G	5: 120,021,184 (GRCm39)	S397G	possibly damaging	Het
Tmprss5	A	G	9: 49,026,465 (GRCm39)	D383G	possibly damaging	Het
Trim43b	A	G	9: 88,972,654 (GRCm39)	W167R	probably damaging	Het
Unc80	A	T	1: 66,609,160 (GRCm39)	D1283V	probably damaging	Het
Upf1	A	T	8: 70,786,730 (GRCm39)	V918D	probably benign	Het
Vmn2r100	A	G	17: 19,742,776 (GRCm39)	I383M	probably benign	Het
Zc3h3	G	T	15: 75,648,932 (GRCm39)	S733R	possibly damaging	Het
Zcchc2	C	T	1: 105,958,000 (GRCm39)	P426S	possibly damaging	Het
Zkscan7	A	G	9: 122,719,874 (GRCm39)		probably null	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
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
R5874:Or8h10	UTSW	2	86,808,786 (GRCm39)	missense	probably damaging	0.99
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'- ACAGAAGCCACTTGTTCCTTTCCTG -3'
(R):5'- AGATGCTCAGCTTCACACTCCAATG -3'

Sequencing Primer
(F):5'- ACTTGTTCCTTTCCTGAGTAGTAG -3'
(R):5'- GATATGTGGCTATTTGCAACCC -3'

Posted On

2013-05-23