Mutagenetix > Incidental Mutation

Incidental Mutation 'R1590:Or9s13'

177777

Institutional Source

Beutler Lab

Gene Symbol

Or9s13

Ensembl Gene

ENSMUSG00000061616

Gene Name

olfactory receptor family 9 subfamily S member 13

Synonyms

GA_x6K02T2R7CC-81134096-81133095, Olfr12, MOR208-5

MMRRC Submission

039627-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1590 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92547603-92548723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92548467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 280 (V280M)

Ref Sequence

ENSEMBL: ENSMUSP00000150858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081274] [ENSMUST00000213247]

AlphaFold

Q60894

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081274
AA Change: V280M

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080027
Gene: ENSMUSG00000061616
AA Change: V280M

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
Pfam:7tm_4	38	314	8e-53	PFAM
Pfam:7tm_1	48	297	1.3e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213247
AA Change: V280M

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.4%

Validation Efficiency

97% (69/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,322,370 (GRCm39)	S95P	probably damaging	Het
Ankmy1	T	C	1: 92,816,397 (GRCm39)	Y239C	probably damaging	Het
Atp12a	T	C	14: 56,617,512 (GRCm39)	S601P	probably damaging	Het
Atp1b3	T	C	9: 96,225,402 (GRCm39)	T89A	probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Brme1	A	T	8: 84,893,715 (GRCm39)	Q294L	probably benign	Het
Btnl2	A	T	17: 34,580,114 (GRCm39)	I216F	possibly damaging	Het
Cabs1	A	T	5: 88,127,490 (GRCm39)	H47L	probably damaging	Het
Ccdc68	T	A	18: 70,073,251 (GRCm39)	D66E	probably benign	Het
Cdc42ep4	T	C	11: 113,619,392 (GRCm39)	D333G	possibly damaging	Het
Ckmt1	G	A	2: 121,194,003 (GRCm39)	D389N	possibly damaging	Het
Dact1	G	T	12: 71,364,349 (GRCm39)	V340F	probably benign	Het
Dnah2	A	G	11: 69,313,580 (GRCm39)		probably null	Het
Dnah2	T	C	11: 69,412,024 (GRCm39)	T246A	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Efcab14	A	G	4: 115,613,746 (GRCm39)		probably benign	Het
Eprs1	A	G	1: 185,133,707 (GRCm39)	T795A	probably damaging	Het
Esp36	T	A	17: 38,728,202 (GRCm39)	E26D	possibly damaging	Het
Fpr-rs7	T	C	17: 20,333,678 (GRCm39)	T271A	probably benign	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gimap7	G	A	6: 48,700,953 (GRCm39)	V180M	probably damaging	Het
Gtf3c1	T	C	7: 125,275,833 (GRCm39)	H531R	possibly damaging	Het
Herc1	T	A	9: 66,399,235 (GRCm39)		probably benign	Het
Hip1r	A	G	5: 124,140,203 (GRCm39)	Y1061C	probably benign	Het
Ipo11	T	C	13: 107,023,225 (GRCm39)	Y420C	probably damaging	Het
Ipo8	T	C	6: 148,712,163 (GRCm39)		probably null	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klhl1	A	T	14: 96,606,072 (GRCm39)	M243K	probably damaging	Het
Lrp2	A	G	2: 69,297,107 (GRCm39)		probably null	Het
Mag	T	C	7: 30,601,277 (GRCm39)	E439G	probably damaging	Het
Mcm3ap	T	A	10: 76,332,375 (GRCm39)	F1231I	probably benign	Het
Mcmdc2	C	T	1: 9,986,780 (GRCm39)	Q204*	probably null	Het
Mpl	A	C	4: 118,301,221 (GRCm39)	L548R	probably damaging	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Myo18b	G	A	5: 113,023,132 (GRCm39)	Q87*	probably null	Het
Nfat5	A	G	8: 108,020,522 (GRCm39)	Y22C	probably damaging	Het
Nnt	T	A	13: 119,523,197 (GRCm39)	I232L	possibly damaging	Het
Or2a52	A	G	6: 43,144,846 (GRCm39)	N285D	probably damaging	Het
Or8g17	T	C	9: 38,930,253 (GRCm39)	N195D	probably benign	Het
Parp2	C	T	14: 51,048,001 (GRCm39)	P76S	probably benign	Het
Pick1	C	T	15: 79,129,501 (GRCm39)	H169Y	probably benign	Het
Prtg	T	A	9: 72,750,089 (GRCm39)	F164L	probably benign	Het
Pygb	A	G	2: 150,659,583 (GRCm39)	D422G	possibly damaging	Het
Samd9l	C	A	6: 3,375,761 (GRCm39)	C500F	probably benign	Het
Sbno1	A	C	5: 124,522,567 (GRCm39)	N1083K	possibly damaging	Het
Septin7	C	T	9: 25,188,900 (GRCm39)	S77F	probably damaging	Het
Slc25a44	A	G	3: 88,323,314 (GRCm39)	V264A	possibly damaging	Het
Slco1a8	C	T	6: 141,926,598 (GRCm39)	S576N	probably benign	Het
Slf2	G	T	19: 44,930,512 (GRCm39)	E530*	probably null	Het
Svs5	A	G	2: 164,079,578 (GRCm39)	S110P	possibly damaging	Het
Tmbim7	G	T	5: 3,715,338 (GRCm39)		probably null	Het
Tpgs2	T	C	18: 25,273,630 (GRCm39)	D177G	probably damaging	Het
Uba1y	T	A	Y: 826,893 (GRCm39)	F516L	probably damaging	Het
Ulk1	A	G	5: 110,943,632 (GRCm39)	V211A	probably damaging	Het
Vmn1r237	T	A	17: 21,534,301 (GRCm39)	I8N	probably damaging	Het
Vmn2r103	G	T	17: 20,014,496 (GRCm39)	M429I	probably benign	Het
Vmn2r112	T	C	17: 22,833,989 (GRCm39)		probably null	Het
Vmn2r84	T	C	10: 130,227,349 (GRCm39)		probably null	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het

Other mutations in Or9s13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Or9s13	APN	1	92,547,921 (GRCm39)	missense	possibly damaging	0.88
IGL01309:Or9s13	APN	1	92,548,057 (GRCm39)	missense	probably damaging	1.00
IGL02025:Or9s13	APN	1	92,548,269 (GRCm39)	missense	probably benign	0.00
IGL02517:Or9s13	APN	1	92,548,183 (GRCm39)	missense	probably benign
IGL02837:Or9s13	UTSW	1	92,548,404 (GRCm39)	missense	possibly damaging	0.73
R1394:Or9s13	UTSW	1	92,548,267 (GRCm39)	missense	probably benign	0.02
R1395:Or9s13	UTSW	1	92,548,267 (GRCm39)	missense	probably benign	0.02
R1778:Or9s13	UTSW	1	92,548,342 (GRCm39)	missense	possibly damaging	0.94
R1924:Or9s13	UTSW	1	92,548,525 (GRCm39)	missense	probably damaging	1.00
R2011:Or9s13	UTSW	1	92,548,471 (GRCm39)	missense	probably benign	0.01
R3877:Or9s13	UTSW	1	92,547,805 (GRCm39)	missense	probably damaging	1.00
R5286:Or9s13	UTSW	1	92,548,084 (GRCm39)	missense	probably benign	0.38
R5513:Or9s13	UTSW	1	92,548,102 (GRCm39)	missense	probably benign
R5727:Or9s13	UTSW	1	92,547,900 (GRCm39)	missense	probably benign	0.00
R5905:Or9s13	UTSW	1	92,547,864 (GRCm39)	missense	possibly damaging	0.49
R5921:Or9s13	UTSW	1	92,548,344 (GRCm39)	missense	probably benign	0.01
R7614:Or9s13	UTSW	1	92,548,183 (GRCm39)	missense	probably damaging	0.99
R7959:Or9s13	UTSW	1	92,548,029 (GRCm39)	missense	probably damaging	0.96
R8073:Or9s13	UTSW	1	92,547,806 (GRCm39)	missense	probably damaging	1.00
R8161:Or9s13	UTSW	1	92,548,078 (GRCm39)	missense	probably benign	0.00
R8680:Or9s13	UTSW	1	92,547,643 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TTGACCACTTCTACTGTGATGTGCC -3'
(R):5'- GATCTACACAGAAGCATTCCCTCCG -3'

Sequencing Primer
(F):5'- ATCATTGTGAGCACCACCTTAG -3'
(R):5'- ACCTCTGCAGAGCATCTTTC -3'

Posted On

2014-04-24