Mutagenetix > Incidental Mutation

Incidental Mutation 'R0208:Or8h9'

33450

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

038461-MU

Accession Numbers

Essential gene?

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

Stock #

R0208 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

86788862-86789800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86789748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 18 (T18K)

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: T18K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097456
Gene: ENSMUSG00000075168
AA Change: T18K

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: T18K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.7%

Validation Efficiency

96% (67/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	C	T	3: 59,840,110 (GRCm39)	R61C	probably damaging	Het
Ackr4	A	G	9: 103,976,860 (GRCm39)	V29A	probably benign	Het
Adgrb1	T	C	15: 74,458,656 (GRCm39)	F313L	probably benign	Het
Arfgef2	C	T	2: 166,709,342 (GRCm39)	R1140W	probably damaging	Het
Arhgef15	A	T	11: 68,837,199 (GRCm39)	N797K	probably benign	Het
Arhgef5	A	G	6: 43,250,275 (GRCm39)	E342G	probably damaging	Het
Asb2	T	A	12: 103,291,530 (GRCm39)	N466Y	possibly damaging	Het
Atp8a1	A	T	5: 67,932,064 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,497,492 (GRCm39)	S2140P	probably damaging	Het
Camsap2	G	C	1: 136,208,738 (GRCm39)	P918R	probably damaging	Het
Cdk7	G	T	13: 100,843,022 (GRCm39)	D202E	probably benign	Het
Cenpj	G	T	14: 56,801,427 (GRCm39)	A182E	probably benign	Het
Clstn3	A	G	6: 124,409,128 (GRCm39)		probably benign	Het
Col9a2	C	T	4: 120,909,485 (GRCm39)		probably benign	Het
D630045J12Rik	A	G	6: 38,116,385 (GRCm39)	M1745T	probably damaging	Het
Dnah11	A	C	12: 118,007,509 (GRCm39)	N2156K	probably damaging	Het
Dock3	G	T	9: 106,874,195 (GRCm39)	Y425*	probably null	Het
Eng	A	T	2: 32,569,005 (GRCm39)	T511S	probably benign	Het
Gcfc2	A	T	6: 81,920,444 (GRCm39)	S410C	probably null	Het
Grik3	T	A	4: 125,579,958 (GRCm39)	Y568N	probably damaging	Het
Gsr	T	A	8: 34,179,383 (GRCm39)	D330E	possibly damaging	Het
H2-M10.4	A	G	17: 36,771,375 (GRCm39)	W268R	probably damaging	Het
Hepacam2	A	T	6: 3,467,505 (GRCm39)		probably benign	Het
Hrct1	C	A	4: 43,727,384 (GRCm39)	T8K	possibly damaging	Het
Idua	T	A	5: 108,829,618 (GRCm39)	F447I	probably damaging	Het
Il2ra	T	C	2: 11,686,828 (GRCm39)		probably benign	Het
Ipcef1	A	G	10: 6,870,062 (GRCm39)	S113P	probably damaging	Het
Klk1b9	T	A	7: 43,628,854 (GRCm39)	N119K	possibly damaging	Het
Krtap9-3	C	A	11: 99,488,663 (GRCm39)	C73F	probably damaging	Het
Loxhd1	T	A	18: 77,492,562 (GRCm39)	F1334L	possibly damaging	Het
Med1	A	G	11: 98,046,515 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,191,682 (GRCm39)		probably benign	Het
Mtor	C	A	4: 148,549,432 (GRCm39)	H605Q	probably benign	Het
Muc19	A	G	15: 91,777,218 (GRCm39)		noncoding transcript	Het
Mybphl	T	C	3: 108,282,731 (GRCm39)	V207A	probably damaging	Het
Nptxr	A	T	15: 79,673,916 (GRCm39)	C366S	probably null	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5p73	A	G	7: 108,064,750 (GRCm39)	D73G	probably damaging	Het
Pcdhb18	T	C	18: 37,623,240 (GRCm39)	I190T	possibly damaging	Het
Pde3b	A	G	7: 114,097,216 (GRCm39)	T428A	probably benign	Het
Pgbd1	A	C	13: 21,618,651 (GRCm39)	L2R	probably damaging	Het
Pkp4	A	G	2: 59,096,780 (GRCm39)	I61V	probably damaging	Het
Pold4	T	G	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Polr1d	A	C	5: 147,015,490 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,355,368 (GRCm39)	D1556E	probably damaging	Het
Psmd1	T	C	1: 86,061,463 (GRCm39)	V891A	possibly damaging	Het
Rasip1	C	A	7: 45,281,999 (GRCm39)	P501T	probably damaging	Het
Scgb2b27	C	A	7: 33,711,562 (GRCm39)	E96*	probably null	Het
Sec16b	G	T	1: 157,380,505 (GRCm39)	G359*	probably null	Het
Secisbp2	A	G	13: 51,833,881 (GRCm39)	T674A	probably benign	Het
Serpinb6c	G	A	13: 34,081,379 (GRCm39)	S90L	probably benign	Het
Sgsm2	A	G	11: 74,759,067 (GRCm39)	I170T	probably damaging	Het
Slc28a1	A	T	7: 80,767,454 (GRCm39)		probably benign	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Spg11	C	T	2: 121,886,177 (GRCm39)		probably null	Het
Spint1	T	C	2: 119,078,826 (GRCm39)		probably benign	Het
Spta1	A	G	1: 174,020,526 (GRCm39)	H545R	probably damaging	Het
Tada3	A	T	6: 113,343,968 (GRCm39)	L227Q	probably damaging	Het
Tln1	C	T	4: 43,549,151 (GRCm39)	V644M	probably damaging	Het
Unc79	G	A	12: 103,058,286 (GRCm39)	V1016I	probably benign	Het
Usf3	C	A	16: 44,037,269 (GRCm39)	A583E	probably damaging	Het
Ush2a	A	C	1: 188,263,958 (GRCm39)	I1612L	probably damaging	Het
Vmn2r6	T	C	3: 64,447,333 (GRCm39)	T578A	probably benign	Het
Zmat4	T	A	8: 24,392,083 (GRCm39)	M13K	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
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
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'- TTGAGTGAAGCAGCCCATGAAAGAA -3'
(R):5'- GAAGAAAGACAATCTCATGCATAAATTGGCA -3'

Sequencing Primer
(F):5'- GTGGAAGTCAGCAAGTTTTCTAAAG -3'
(R):5'- TTGTACCTTGTTTCTCTTTGAAAATG -3'

Posted On

2013-05-09