Mutagenetix > Incidental Mutation

Incidental Mutation 'R9793:Or8h9'

734731

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

Accession Numbers

Essential gene?

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

Stock #

R9793 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86788862-86789800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86789119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 228 (I228F)

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: I228F

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

SMART Domains

Protein: ENSMUSP00000097456
Gene: ENSMUSG00000075168
AA Change: I228F

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: I228F

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,078,135 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,874,822 (GRCm39)	D453G	possibly damaging	Het
Agrn	A	G	4: 156,261,129 (GRCm39)	V656A	probably benign	Het
Aldh3a1	T	C	11: 61,108,927 (GRCm39)	Y443H	probably damaging	Het
Alpk3	T	C	7: 80,750,881 (GRCm39)		probably null	Het
Ano1	A	T	7: 144,175,434 (GRCm39)	W495R	probably damaging	Het
Apc	T	A	18: 34,447,628 (GRCm39)	L1508Q	probably damaging	Het
Cald1	A	T	6: 34,723,071 (GRCm39)	M52L		Het
Ccdc9b	T	C	2: 118,587,784 (GRCm39)	S517G	unknown	Het
Cdk11b	T	A	4: 155,732,378 (GRCm39)	H510Q	unknown	Het
Cdk12	T	A	11: 98,102,051 (GRCm39)	D636E	unknown	Het
Cfap53	A	G	18: 74,438,741 (GRCm39)	D306G	probably benign	Het
Cntln	C	T	4: 84,985,798 (GRCm39)	L951F	probably benign	Het
Cntnap4	T	C	8: 113,608,357 (GRCm39)	V1259A	probably benign	Het
Cntnap5c	A	T	17: 58,409,192 (GRCm39)	T477S	probably benign	Het
Cyp4a30b	A	G	4: 115,316,167 (GRCm39)	T298A	probably benign	Het
Dop1b	T	A	16: 93,598,503 (GRCm39)	D2006E	probably benign	Het
Ermard	T	C	17: 15,281,441 (GRCm39)	L617P	probably damaging	Het
Glipr1l2	A	G	10: 111,942,905 (GRCm39)	I253M	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Grik3	A	G	4: 125,526,315 (GRCm39)	T183A	probably damaging	Het
Hao1	T	A	2: 134,372,552 (GRCm39)	Y152F	possibly damaging	Het
Hdac7	T	C	15: 97,698,671 (GRCm39)	T629A	possibly damaging	Het
Hmcn1	G	A	1: 150,608,689 (GRCm39)	P1498S	possibly damaging	Het
Iqcf3	T	A	9: 106,434,714 (GRCm39)	K41N	probably benign	Het
Kif26a	C	T	12: 112,142,887 (GRCm39)	A1047V	probably damaging	Het
Lrriq3	T	C	3: 154,893,313 (GRCm39)	M338T	probably benign	Het
Map1a	T	C	2: 121,121,304 (GRCm39)		probably null	Het
Ncoa2	G	T	1: 13,260,355 (GRCm39)	Q107K	possibly damaging	Het
Nsd2	A	G	5: 34,003,489 (GRCm39)	D213G	possibly damaging	Het
Nuggc	T	C	14: 65,847,345 (GRCm39)	S131P	probably damaging	Het
Nwd2	A	G	5: 63,964,232 (GRCm39)	E1272G	probably damaging	Het
Or2y1	A	T	11: 49,385,882 (GRCm39)	N174I	probably damaging	Het
Or4a78	T	C	2: 89,497,811 (GRCm39)	I140V	probably benign	Het
Or4f14c	T	C	2: 111,941,330 (GRCm39)	H89R	probably benign	Het
Or52m1	G	A	7: 102,289,788 (GRCm39)	V112I	probably benign	Het
Or5b113	A	T	19: 13,342,514 (GRCm39)	H174L	probably damaging	Het
Otud7a	C	T	7: 63,378,845 (GRCm39)	R232W	probably damaging	Het
Pacsin3	C	A	2: 91,094,160 (GRCm39)	A363D	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Pkd1	A	G	17: 24,800,172 (GRCm39)	T2978A	probably benign	Het
Pkhd1l1	T	C	15: 44,406,983 (GRCm39)	S2407P	probably benign	Het
Ppip5k2	A	T	1: 97,671,822 (GRCm39)	Y489*	probably null	Het
Rasgrp1	T	C	2: 117,118,429 (GRCm39)	D520G	probably benign	Het
Rbm20	C	A	19: 53,852,551 (GRCm39)	T1177K	probably benign	Het
Rex2	A	C	4: 147,142,039 (GRCm39)	N176H	probably damaging	Het
Rsl1d1	T	C	16: 11,017,300 (GRCm39)	N194S	possibly damaging	Het
Sel1l3	C	A	5: 53,329,924 (GRCm39)	R477L	probably benign	Het
Sidt2	A	G	9: 45,850,563 (GRCm39)	Y851H	probably damaging	Het
Sirpb1b	G	A	3: 15,640,074 (GRCm39)		probably benign	Het
Slc6a7	C	A	18: 61,138,866 (GRCm39)	R214L	probably benign	Het
Srrt	G	C	5: 137,294,835 (GRCm39)	I739M	probably benign	Het
Tbc1d22a	T	C	15: 86,119,839 (GRCm39)	L81P	probably damaging	Het
Trim42	A	G	9: 97,245,429 (GRCm39)	I457T	probably damaging	Het
Ttc23l	T	A	15: 10,537,731 (GRCm39)	I180F	probably benign	Het
Usp9y	T	C	Y: 1,364,679 (GRCm39)	M1045V	probably benign	Het
Vim	A	G	2: 13,579,598 (GRCm39)	D119G	probably benign	Het
Vmn2r118	T	C	17: 55,899,496 (GRCm39)	T803A	probably damaging	Het
Vwa3a	C	A	7: 120,383,307 (GRCm39)	A636D	probably damaging	Het
Wdr26	A	G	1: 181,036,812 (GRCm39)	F143S	probably damaging	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
R5691:Or8h9	UTSW	2	86,789,616 (GRCm39)	missense	probably damaging	1.00
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
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'- GTGGGTTAAGCATGGGAATCAC -3'
(R):5'- GCCCTCCTTACTGGGTCATATG -3'

Sequencing Primer
(F):5'- TTAAGCATGGGAATCACAATGGTG -3'
(R):5'- CATGGGTACACTGGATTTCTGCAAC -3'

Posted On

2022-11-14