Mutagenetix > Incidental Mutation

Incidental Mutation 'R7368:Or8h9'

571912

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

045452-MU

Accession Numbers

Essential gene?

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

Stock #

R7368 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86788862-86789800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86789602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 67 (S67P)

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: S67P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097456
Gene: ENSMUSG00000075168
AA Change: S67P

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: S67P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,659,639 (GRCm39)	F153I	possibly damaging	Het
Adcy1	G	A	11: 7,094,765 (GRCm39)	V564I	probably damaging	Het
Apol9b	T	C	15: 77,620,134 (GRCm39)	I310T	possibly damaging	Het
Arhgef28	C	A	13: 98,133,370 (GRCm39)	V366F	probably benign	Het
B020004C17Rik	C	T	14: 57,254,773 (GRCm39)	T199I	possibly damaging	Het
Carmil2	C	T	8: 106,417,467 (GRCm39)	T575I	possibly damaging	Het
Catsper1	A	T	19: 5,386,691 (GRCm39)	Q308L	unknown	Het
Cpa2	T	A	6: 30,551,989 (GRCm39)	S239T	probably damaging	Het
Cyrib	A	T	15: 63,810,507 (GRCm39)		probably null	Het
Ddit3	G	A	10: 127,131,776 (GRCm39)	G108D	probably damaging	Het
Dnah3	T	C	7: 119,628,239 (GRCm39)	I1473V	probably benign	Het
Dscam	A	G	16: 96,445,131 (GRCm39)	V1520A	probably benign	Het
Edc4	TAGTAGCAGCAGCAGTAGCAGCAGCAG	TAGTAGCAGCAGCAG	8: 106,615,037 (GRCm39)		probably benign	Het
Ednrb	T	A	14: 104,057,453 (GRCm39)	I370F	probably benign	Het
Ehd3	A	G	17: 74,134,457 (GRCm39)	E272G	possibly damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fkbp11	T	C	15: 98,622,307 (GRCm39)	K189E	unknown	Het
Frem1	T	A	4: 82,884,381 (GRCm39)	E1190D	probably benign	Het
Gabrg2	A	C	11: 41,867,390 (GRCm39)	Y76*	probably null	Het
Gm11437	T	A	11: 84,058,298 (GRCm39)		probably benign	Het
Gm8947	C	A	1: 151,068,847 (GRCm39)	Q227K	probably benign	Het
Gm9195	A	G	14: 72,717,496 (GRCm39)	F279S	probably damaging	Het
Gpbp1l1	T	C	4: 116,430,655 (GRCm39)	I42T	probably benign	Het
Hdac5	A	T	11: 102,088,207 (GRCm39)	V939E	probably null	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Kitl	A	T	10: 99,851,943 (GRCm39)	I21F	probably benign	Het
Krt1	T	C	15: 101,755,307 (GRCm39)	D484G	probably damaging	Het
Larp1	C	A	11: 57,938,904 (GRCm39)	P527T	probably damaging	Het
Lrp5	A	G	19: 3,670,085 (GRCm39)	V673A	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Mmp27	G	A	9: 7,577,318 (GRCm39)	V228M	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo15a	G	T	11: 60,381,741 (GRCm39)		probably null	Het
Myt1	A	G	2: 181,424,384 (GRCm39)	K26E	possibly damaging	Het
Nek1	T	A	8: 61,542,741 (GRCm39)	I777N	probably benign	Het
Nlrc5	C	T	8: 95,203,021 (GRCm39)	R374*	probably null	Het
Nol8	T	C	13: 49,814,695 (GRCm39)	S268P	probably benign	Het
Nynrin	T	A	14: 56,107,968 (GRCm39)	L1025Q	probably damaging	Het
Osbpl3	A	T	6: 50,325,078 (GRCm39)	L140H	probably damaging	Het
Pcnt	T	C	10: 76,235,835 (GRCm39)	N1382S	probably benign	Het
Pef1	T	A	4: 130,021,178 (GRCm39)	L244*	probably null	Het
Phf11a	T	C	14: 59,518,174 (GRCm39)	E191G	probably benign	Het
Polr3a	A	T	14: 24,517,144 (GRCm39)	D702E	probably damaging	Het
Ptch1	C	T	13: 63,659,798 (GRCm39)	G1285D	probably benign	Het
Ptpn3	T	C	4: 57,221,993 (GRCm39)	D566G	probably damaging	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
Scgb1b12	T	C	7: 32,033,992 (GRCm39)	I84T	probably damaging	Het
Sh2b1	A	T	7: 126,067,685 (GRCm39)	D618E	possibly damaging	Het
Slc35f5	T	A	1: 125,512,256 (GRCm39)	V352E	probably damaging	Het
Sppl2c	A	G	11: 104,078,430 (GRCm39)	E410G	probably damaging	Het
St6galnac2	T	C	11: 116,570,805 (GRCm39)	Y261C	probably damaging	Het
Stra6	G	A	9: 58,058,543 (GRCm39)	R468Q	probably benign	Het
Taf3	T	C	2: 9,921,188 (GRCm39)	H924R	unknown	Het
Tbx18	C	A	9: 87,612,750 (GRCm39)	V50L	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Unc45b	C	T	11: 82,833,321 (GRCm39)	T845I	probably benign	Het
Usp15	T	C	10: 123,032,798 (GRCm39)	D8G	possibly damaging	Het
Vmn2r91	A	G	17: 18,356,540 (GRCm39)	I736V	possibly damaging	Het
Vps13c	C	A	9: 67,821,355 (GRCm39)	D1288E	probably benign	Het
Zfp458	T	A	13: 67,405,300 (GRCm39)	M380L	probably benign	Het
Zfp638	A	G	6: 83,906,437 (GRCm39)	N201D	possibly 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
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'- AGAGGTTTGCAGATAGCTACATACC -3'
(R):5'- GGGTAGTTTGCAATGAATACCTTG -3'

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

Posted On

2019-09-13