Mutagenetix > Incidental Mutation

Incidental Mutation 'R0269:Or9s18'

35161

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

038495-MU

Accession Numbers

Essential gene?

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

Stock #

R0269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65300040-65300966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65300692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 218 (Y218F)

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: Y218F

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000062692
Gene: ENSMUSG00000049806
AA Change: Y218F

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: Y218F

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.1%
20x: 93.6%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,838,201 (GRCm39)	V231I	possibly damaging	Het
Abca1	T	C	4: 53,044,228 (GRCm39)	D1798G	probably benign	Het
Adcy2	T	A	13: 68,826,725 (GRCm39)	K660*	probably null	Het
Alk	G	T	17: 72,910,578 (GRCm39)	P43T	probably damaging	Het
Amhr2	T	C	15: 102,355,503 (GRCm39)	C189R	probably benign	Het
Arrb1	T	C	7: 99,243,884 (GRCm39)	L278P	probably damaging	Het
AW551984	T	C	9: 39,511,246 (GRCm39)	Y153C	probably damaging	Het
Bpifb1	A	G	2: 154,054,867 (GRCm39)	D253G	possibly damaging	Het
Bpifb9b	C	T	2: 154,161,545 (GRCm39)	T559M	probably benign	Het
Cd46	T	G	1: 194,746,996 (GRCm39)	I339L	probably benign	Het
Cdkn2aip	A	G	8: 48,165,012 (GRCm39)	S234P	probably damaging	Het
Chil3	T	C	3: 106,063,072 (GRCm39)	K173E	probably benign	Het
Csf2rb2	G	T	15: 78,173,065 (GRCm39)	T265N	probably benign	Het
Cyp2c40	A	G	19: 39,762,340 (GRCm39)	F436L	probably damaging	Het
D130040H23Rik	T	C	8: 69,753,446 (GRCm39)	F24S	probably benign	Het
Defb12	G	T	8: 19,164,375 (GRCm39)	A34E	probably damaging	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fbxl17	A	C	17: 63,691,987 (GRCm39)	F42V	probably damaging	Het
Gldc	T	A	19: 30,096,002 (GRCm39)	I670F	probably damaging	Het
Guf1	A	C	5: 69,716,942 (GRCm39)	Q168P	probably damaging	Het
Hcn2	A	G	10: 79,570,075 (GRCm39)		probably benign	Het
Hddc2	A	G	10: 31,203,942 (GRCm39)	M190V	probably benign	Het
Kcnq2	T	C	2: 180,738,767 (GRCm39)	E294G	probably benign	Het
Kdelr1	T	A	7: 45,523,463 (GRCm39)		probably benign	Het
Kidins220	T	A	12: 25,090,511 (GRCm39)	H1158Q	probably damaging	Het
Laptm5	A	T	4: 130,658,127 (GRCm39)	N185Y	probably benign	Het
Mgat4a	A	G	1: 37,529,388 (GRCm39)	Y164H	possibly damaging	Het
Mlh3	C	A	12: 85,315,179 (GRCm39)	V336L	probably benign	Het
Myadm	A	G	7: 3,345,273 (GRCm39)	T12A	unknown	Het
Nol8	T	C	13: 49,807,921 (GRCm39)	F46L	possibly damaging	Het
Ntrk1	T	C	3: 87,691,240 (GRCm39)	D308G	possibly damaging	Het
Oog3	A	T	4: 143,886,784 (GRCm39)	V112D	probably benign	Het
Or4a66	A	G	2: 88,531,040 (GRCm39)	V211A	probably damaging	Het
Or5af2	T	C	11: 58,707,975 (GRCm39)	V47A	probably damaging	Het
Or5m9b	A	G	2: 85,905,485 (GRCm39)	M134V	probably benign	Het
Or8g34	T	C	9: 39,373,090 (GRCm39)	M118T	probably damaging	Het
Pramel14	A	G	4: 143,720,088 (GRCm39)		probably benign	Het
Prss39	A	T	1: 34,539,279 (GRCm39)	H173L	probably damaging	Het
Rabl6	A	G	2: 25,476,878 (GRCm39)		probably null	Het
Recql5	T	C	11: 115,819,050 (GRCm39)	D172G	possibly damaging	Het
Reln	T	C	5: 22,125,535 (GRCm39)	D2716G	probably damaging	Het
Rgs7	A	G	1: 175,098,386 (GRCm39)	S58P	possibly damaging	Het
Sema6d	T	A	2: 124,502,665 (GRCm39)	F583L	possibly damaging	Het
Sgsm1	T	C	5: 113,434,795 (GRCm39)		probably null	Het
Slc22a19	A	T	19: 7,686,986 (GRCm39)		probably benign	Het
Slc6a21	T	A	7: 44,936,332 (GRCm39)	Y428*	probably null	Het
Smarca4	T	G	9: 21,547,497 (GRCm39)	M260R	probably benign	Het
Smg6	C	A	11: 75,053,757 (GRCm39)	T1413K	probably benign	Het
Spata17	T	C	1: 186,830,069 (GRCm39)	I322V	probably benign	Het
Stxbp1	A	C	2: 32,692,795 (GRCm39)	I407S	probably damaging	Het
Sult1d1	A	T	5: 87,712,661 (GRCm39)	I61N	probably damaging	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tm4sf5	T	A	11: 70,401,495 (GRCm39)	S165T	probably damaging	Het
Tmx2	T	C	2: 84,502,740 (GRCm39)	D256G	probably benign	Het
Trmt11	T	A	10: 30,463,485 (GRCm39)	H210L	probably benign	Het
Tut7	A	T	13: 59,964,669 (GRCm39)		probably null	Het
Ush2a	T	A	1: 188,542,373 (GRCm39)	M3313K	probably benign	Het
Zfp955b	A	T	17: 33,524,437 (GRCm39)	S43R	probably damaging	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
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
R7345:Or9s18	UTSW	13	65,300,557 (GRCm39)	missense	possibly damaging	0.59
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'- TGGCCTATGACCGCTTCATTGC -3'
(R):5'- GATAGACACCACTTTGCTCTGCTCC -3'

Sequencing Primer
(F):5'- GTGAATGCTGTCACGCAAAC -3'
(R):5'- CATGGAGGAGACAGCACTG -3'

Posted On

2013-05-09