Mutagenetix > Incidental Mutation

Incidental Mutation 'R7345:Or9s18'

570159

Institutional Source

Beutler Lab

Gene Symbol

Or9s18

Ensembl Gene

ENSMUSG00000049806

Gene Name

olfactory receptor family 9 subfamily S member 18

Synonyms

GA_x6K02T2PB7A-3051266-3052192, Olfr466, MOR209-1

MMRRC Submission

045379-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65300040-65300966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 65300557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 173 (N173T)

Ref Sequence

ENSEMBL: ENSMUSP00000149328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058907] [ENSMUST00000214214]

AlphaFold

E9Q2B9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058907
AA Change: N173T

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000062692
Gene: ENSMUSG00000049806
AA Change: N173T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	305	2.8e-47	PFAM
Pfam:7tm_1	39	288	3.2e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214214
AA Change: N173T

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	A	G	16: 4,773,774 (GRCm39)	M174T	possibly damaging	Het
Arhgap23	G	A	11: 97,357,304 (GRCm39)	R934Q	possibly damaging	Het
Atad5	T	C	11: 79,986,832 (GRCm39)	S640P	probably damaging	Het
B3galnt2	C	T	13: 14,155,065 (GRCm39)		probably null	Het
B430305J03Rik	T	C	3: 61,271,539 (GRCm39)	S69G	unknown	Het
Cd163	A	T	6: 124,295,897 (GRCm39)	N747I	possibly damaging	Het
Cep126	A	G	9: 8,099,817 (GRCm39)	S906P	probably damaging	Het
Cimip2b	T	C	4: 43,428,022 (GRCm39)	D145G	possibly damaging	Het
Cyp4f39	G	A	17: 32,705,753 (GRCm39)	G318R	probably damaging	Het
D630003M21Rik	C	T	2: 158,059,129 (GRCm39)	G257D	probably damaging	Het
Dcaf10	T	C	4: 45,342,583 (GRCm39)	L139P	probably damaging	Het
Dcc	A	G	18: 71,511,895 (GRCm39)	V840A	probably benign	Het
Dnhd1	A	T	7: 105,353,174 (GRCm39)	I2776L	probably benign	Het
Fbxo24	G	T	5: 137,619,523 (GRCm39)	F234L	probably damaging	Het
Gm21190	T	C	5: 15,732,902 (GRCm39)		probably null	Het
Grhl3	C	T	4: 135,273,557 (GRCm39)	R565Q	probably damaging	Het
Gtf3c1	A	T	7: 125,244,842 (GRCm39)	Y1731N	probably damaging	Het
Il1a	C	A	2: 129,146,693 (GRCm39)	R133S	probably benign	Het
Ipo4	C	T	14: 55,872,988 (GRCm39)	R23Q	probably benign	Het
Klc3	G	A	7: 19,128,814 (GRCm39)	T481M	probably benign	Het
Map2k6	A	T	11: 110,383,734 (GRCm39)	I127F		Het
Mapk8	A	T	14: 33,130,068 (GRCm39)	N63K	probably damaging	Het
Med13l	T	C	5: 118,880,825 (GRCm39)	W1306R	probably damaging	Het
Megf6	C	A	4: 154,351,772 (GRCm39)	Q1162K	probably benign	Het
Myo5b	A	G	18: 74,841,095 (GRCm39)	E992G	possibly damaging	Het
Ndst4	C	T	3: 125,508,308 (GRCm39)	T291M	probably benign	Het
Nek10	T	A	14: 14,955,503 (GRCm38)	F838L	probably benign	Het
Nrm	A	G	17: 36,175,476 (GRCm39)	H194R	probably damaging	Het
Nup188	T	C	2: 30,230,613 (GRCm39)	S1384P	probably benign	Het
Olfml2a	C	A	2: 38,850,139 (GRCm39)	D618E	probably damaging	Het
Or5p78	C	T	7: 108,212,270 (GRCm39)	T252I	probably benign	Het
Or8g23	A	G	9: 38,971,875 (GRCm39)	L29P	probably damaging	Het
Or8g24	G	A	9: 38,989,630 (GRCm39)	S137F	probably damaging	Het
P2ry1	T	C	3: 60,911,095 (GRCm39)	F78S	possibly damaging	Het
Pcdhb18	T	C	18: 37,624,976 (GRCm39)	F769L	probably benign	Het
Poc5	A	G	13: 96,533,304 (GRCm39)	E144G	probably damaging	Het
Pole	T	A	5: 110,451,769 (GRCm39)	N870K	possibly damaging	Het
Polr2b	T	C	5: 77,496,966 (GRCm39)	F1159L	possibly damaging	Het
Pramel32	T	C	4: 88,546,416 (GRCm39)	K309E	possibly damaging	Het
Rubcnl	A	G	14: 75,279,793 (GRCm39)	Y392C	probably benign	Het
Sec31a	T	C	5: 100,533,129 (GRCm39)	T539A	probably damaging	Het
Serpinh1	A	C	7: 98,995,563 (GRCm39)	S340A	probably damaging	Het
Slc1a5	T	A	7: 16,530,085 (GRCm39)		probably null	Het
Soat2	A	G	15: 102,071,013 (GRCm39)	D469G	probably benign	Het
Speg	T	C	1: 75,361,479 (GRCm39)	L70P	probably damaging	Het
Spred2	T	C	11: 19,874,958 (GRCm39)		probably null	Het
Stac2	A	C	11: 97,933,439 (GRCm39)	S168A	probably damaging	Het
Stx1a	T	A	5: 135,066,042 (GRCm39)	D31E	probably benign	Het
Timeless	C	T	10: 128,085,623 (GRCm39)	T885M	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tsen34	T	C	7: 3,698,614 (GRCm39)	Y253H	probably damaging	Het
Unc13b	T	C	4: 43,173,966 (GRCm39)	V1598A	unknown	Het
Zfat	A	T	15: 67,976,892 (GRCm39)	Y1086N	probably damaging	Het
Zfp551	G	A	7: 12,150,522 (GRCm39)	H296Y	probably benign	Het

Other mutations in Or9s18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02684:Or9s18	APN	13	65,300,210 (GRCm39)	missense	probably damaging	0.99
R0269:Or9s18	UTSW	13	65,300,692 (GRCm39)	missense	possibly damaging	0.56
R0617:Or9s18	UTSW	13	65,300,692 (GRCm39)	missense	possibly damaging	0.56
R0646:Or9s18	UTSW	13	65,300,877 (GRCm39)	missense	probably damaging	1.00
R1338:Or9s18	UTSW	13	65,300,197 (GRCm39)	missense	probably damaging	1.00
R1893:Or9s18	UTSW	13	65,300,806 (GRCm39)	missense	possibly damaging	0.92
R3108:Or9s18	UTSW	13	65,300,875 (GRCm39)	missense	possibly damaging	0.89
R4408:Or9s18	UTSW	13	65,300,514 (GRCm39)	missense	probably benign	0.00
R4625:Or9s18	UTSW	13	65,300,674 (GRCm39)	missense	possibly damaging	0.95
R4732:Or9s18	UTSW	13	65,300,467 (GRCm39)	missense	possibly damaging	0.72
R4733:Or9s18	UTSW	13	65,300,467 (GRCm39)	missense	possibly damaging	0.72
R4849:Or9s18	UTSW	13	65,300,493 (GRCm39)	missense	possibly damaging	0.96
R5058:Or9s18	UTSW	13	65,300,743 (GRCm39)	missense	possibly damaging	0.96
R5419:Or9s18	UTSW	13	65,300,588 (GRCm39)	missense	probably damaging	1.00
R5569:Or9s18	UTSW	13	65,300,793 (GRCm39)	missense	possibly damaging	0.81
R5662:Or9s18	UTSW	13	65,300,067 (GRCm39)	missense	possibly damaging	0.76
R7292:Or9s18	UTSW	13	65,300,656 (GRCm39)	missense	possibly damaging	0.94
R7427:Or9s18	UTSW	13	65,300,866 (GRCm39)	missense	probably damaging	1.00
R7428:Or9s18	UTSW	13	65,300,866 (GRCm39)	missense	probably damaging	1.00
R8162:Or9s18	UTSW	13	65,300,734 (GRCm39)	missense	probably damaging	0.99
R8736:Or9s18	UTSW	13	65,300,538 (GRCm39)	missense	probably damaging	1.00
R9224:Or9s18	UTSW	13	65,300,203 (GRCm39)	missense	probably damaging	1.00
R9607:Or9s18	UTSW	13	65,300,885 (GRCm39)	missense	probably benign	0.33
R9739:Or9s18	UTSW	13	65,300,442 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGAAGCATTTCTCCTGGCTG -3'
(R):5'- CAATCAAGTGGGAGGCACAC -3'

Sequencing Primer
(F):5'- TGCCATGGCCTATGACCG -3'
(R):5'- CACACGTGGAGAAAGCTTTC -3'

Posted On

2019-09-13