Mutagenetix > Incidental Mutation

Incidental Mutation 'R5691:Or8h9'

443666

Institutional Source

Beutler Lab

Gene Symbol

Or8h9

Ensembl Gene

ENSMUSG00000075168

Gene Name

olfactory receptor family 8 subfamily H member 9

Synonyms

GA_x6K02T2Q125-48446067-48445129, MOR206-3, Olfr1099

MMRRC Submission

043324-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5691 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86788862-86789800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86789616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 62 (F62Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099871] [ENSMUST00000213456]

AlphaFold

Q8VG37

Predicted Effect

probably damaging
Transcript: ENSMUST00000099871
AA Change: F62Y

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

SMART Domains

Protein: ENSMUSP00000097456
Gene: ENSMUSG00000075168
AA Change: F62Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.9e-54	PFAM
Pfam:7tm_1	41	290	1.2e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213456
AA Change: F62Y

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

Meta Mutation Damage Score

0.4373

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (60/61)

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
2410022M11Rik	A	G	14: 57,049,830 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,890,970 (GRCm39)	M509K	probably damaging	Het
Ap4m1	A	G	5: 138,170,653 (GRCm39)	Y34C	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Bcl10	C	T	3: 145,638,904 (GRCm39)	T182I	probably benign	Het
Cdc123	T	A	2: 5,827,986 (GRCm39)	N87I	probably benign	Het
Cfap46	T	C	7: 139,186,616 (GRCm39)	E2431G	possibly damaging	Het
Dcc	T	C	18: 71,708,154 (GRCm39)	T521A	probably damaging	Het
Defb46	T	A	8: 19,292,149 (GRCm39)	I55K	probably benign	Het
Dlgap4	A	G	2: 156,546,390 (GRCm39)	T353A	probably benign	Het
Eqtn	C	A	4: 94,811,965 (GRCm39)		probably null	Het
Ermn	A	T	2: 57,937,776 (GRCm39)	M279K	probably damaging	Het
Fan1	C	A	7: 64,004,118 (GRCm39)		probably null	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Hectd4	A	G	5: 121,486,878 (GRCm39)	D3291G	possibly damaging	Het
Hid1	A	G	11: 115,239,645 (GRCm39)	W762R	probably damaging	Het
Idi2l	A	T	13: 8,992,693 (GRCm39)	Y91*	probably null	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Inpp4b	T	A	8: 82,617,323 (GRCm39)		probably benign	Het
Iqcd	C	T	5: 120,740,571 (GRCm39)	Q301*	probably null	Het
Jph1	T	G	1: 17,074,587 (GRCm39)	Q477P	probably benign	Het
Kdm4c	A	T	4: 74,252,965 (GRCm39)	I511L	probably benign	Het
Lrp2	T	C	2: 69,332,897 (GRCm39)	D1540G	probably damaging	Het
Lrrc69	T	A	4: 14,769,648 (GRCm39)	I168F	probably damaging	Het
Mgat4e	A	T	1: 134,468,729 (GRCm39)		probably benign	Het
Mroh7	C	A	4: 106,559,815 (GRCm39)	G704V	probably damaging	Het
Nadsyn1	C	T	7: 143,366,316 (GRCm39)		probably null	Het
Ncoa2	A	T	1: 13,250,774 (GRCm39)	C303S	probably damaging	Het
Nova1	T	C	12: 46,863,738 (GRCm39)	T71A	unknown	Het
Nrcam	T	C	12: 44,611,039 (GRCm39)	Y554H	probably damaging	Het
Nubpl	G	A	12: 52,152,059 (GRCm39)		probably benign	Het
Oasl2	C	A	5: 115,037,828 (GRCm39)	T75K	possibly damaging	Het
P3h3	C	T	6: 124,832,116 (GRCm39)	G257R	probably damaging	Het
Parp14	A	G	16: 35,683,909 (GRCm39)	V139A	probably benign	Het
Pgam5	G	A	5: 110,414,959 (GRCm39)	P85S	probably damaging	Het
Phpt1	T	C	2: 25,463,707 (GRCm39)	Y96C	probably damaging	Het
Plekhm2	A	C	4: 141,355,600 (GRCm39)	S867A	possibly damaging	Het
Pramel26	A	T	4: 143,538,579 (GRCm39)	W131R	probably benign	Het
Prss21	A	G	17: 24,087,759 (GRCm39)		probably null	Het
Rabgap1l	A	T	1: 160,563,254 (GRCm39)	Y108N	probably damaging	Het
Riox1	C	T	12: 83,998,466 (GRCm39)	T334I	possibly damaging	Het
Rps3a2	G	T	14: 88,360,483 (GRCm39)		noncoding transcript	Het
Selenot	C	T	3: 58,493,447 (GRCm39)	A108V	probably benign	Het
Setd3	A	T	12: 108,126,544 (GRCm39)	M98K	probably benign	Het
Slc22a27	T	C	19: 7,904,035 (GRCm39)	H34R	possibly damaging	Het
Slco1a8	A	T	6: 141,940,581 (GRCm39)	Y93*	probably null	Het
Sp3	A	G	2: 72,801,803 (GRCm39)	L70S	probably damaging	Het
Syne2	TCCAGGTAGGGCACACC	TCC	12: 76,074,630 (GRCm39)		probably null	Het
Tcl1b4	C	A	12: 105,168,806 (GRCm39)	D23E	possibly damaging	Het
Tespa1	T	A	10: 130,190,638 (GRCm39)		probably null	Het
Tmc7	T	C	7: 118,141,116 (GRCm39)	I672V	probably benign	Het
Trps1	T	A	15: 50,690,700 (GRCm39)	Q14L	probably benign	Het
Vmn2r73	A	G	7: 85,507,299 (GRCm39)	V671A	probably damaging	Het
Zfp106	G	A	2: 120,354,952 (GRCm39)	S1273F	probably damaging	Het
Zfp90	C	A	8: 107,151,710 (GRCm39)	Y474*	probably null	Het

Other mutations in Or8h9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01110:Or8h9	APN	2	86,789,265 (GRCm39)	missense	possibly damaging	0.90
IGL01624:Or8h9	APN	2	86,789,574 (GRCm39)	missense	probably benign	0.05
IGL02119:Or8h9	APN	2	86,789,527 (GRCm39)	missense	probably benign	0.24
IGL02433:Or8h9	APN	2	86,789,392 (GRCm39)	missense	possibly damaging	0.63
IGL02646:Or8h9	APN	2	86,789,697 (GRCm39)	missense	probably damaging	1.00
IGL02824:Or8h9	APN	2	86,789,337 (GRCm39)	missense	probably benign	0.03
IGL03228:Or8h9	APN	2	86,789,050 (GRCm39)	missense	probably benign	0.16
R0208:Or8h9	UTSW	2	86,789,748 (GRCm39)	missense	probably damaging	0.96
R0521:Or8h9	UTSW	2	86,789,190 (GRCm39)	missense	probably damaging	1.00
R0783:Or8h9	UTSW	2	86,788,906 (GRCm39)	missense	probably benign
R1706:Or8h9	UTSW	2	86,789,424 (GRCm39)	missense	probably damaging	1.00
R1859:Or8h9	UTSW	2	86,789,425 (GRCm39)	missense	probably damaging	0.99
R2046:Or8h9	UTSW	2	86,789,077 (GRCm39)	missense	possibly damaging	0.75
R2126:Or8h9	UTSW	2	86,789,442 (GRCm39)	missense	possibly damaging	0.63
R2140:Or8h9	UTSW	2	86,789,625 (GRCm39)	missense	probably damaging	1.00
R4452:Or8h9	UTSW	2	86,789,043 (GRCm39)	missense	probably damaging	0.99
R4680:Or8h9	UTSW	2	86,789,665 (GRCm39)	missense	possibly damaging	0.87
R4958:Or8h9	UTSW	2	86,789,449 (GRCm39)	missense	possibly damaging	0.75
R4970:Or8h9	UTSW	2	86,789,698 (GRCm39)	missense	probably damaging	1.00
R5112:Or8h9	UTSW	2	86,789,698 (GRCm39)	missense	probably damaging	1.00
R5532:Or8h9	UTSW	2	86,788,924 (GRCm39)	nonsense	probably null
R6851:Or8h9	UTSW	2	86,789,611 (GRCm39)	missense	possibly damaging	0.46
R6858:Or8h9	UTSW	2	86,789,034 (GRCm39)	missense	probably benign	0.11
R7368:Or8h9	UTSW	2	86,789,602 (GRCm39)	missense	probably damaging	1.00
R9014:Or8h9	UTSW	2	86,789,035 (GRCm39)	missense	probably benign	0.03
R9474:Or8h9	UTSW	2	86,789,757 (GRCm39)	missense	probably benign	0.03
R9792:Or8h9	UTSW	2	86,789,119 (GRCm39)	missense	probably damaging	1.00
R9793:Or8h9	UTSW	2	86,789,119 (GRCm39)	missense	probably damaging	1.00
R9795:Or8h9	UTSW	2	86,789,119 (GRCm39)	missense	probably damaging	1.00
Z1088:Or8h9	UTSW	2	86,789,010 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGGTTTGCAGATAGCTACATACCG -3'
(R):5'- GGGTAGTTTGCAATGAATACCTTG -3'

Sequencing Primer
(F):5'- TACCGATCATAGGCCATTGAAG -3'
(R):5'- TCAGCTGGTCCTATCTGT -3'

Posted On

2016-11-09