Mutagenetix > Incidental Mutation

Incidental Mutation 'R7614:Or9s13'

588750

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

045682-MU

Accession Numbers

Essential gene?

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

Stock #

R7614 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92547603-92548723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92548183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 185 (Y185C)

Ref Sequence

ENSEMBL: ENSMUSP00000150858 (fasta)

Gene Model

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

AlphaFold

Q60894

Predicted Effect

probably damaging
Transcript: ENSMUST00000081274
AA Change: Y185C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080027
Gene: ENSMUSG00000061616
AA Change: Y185C

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

probably damaging
Transcript: ENSMUST00000213247
AA Change: Y185C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

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

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	A	G	1: 156,464,429 (GRCm39)	T535A	possibly damaging	Het
Adcy9	A	T	16: 4,236,088 (GRCm39)	L441Q	probably damaging	Het
Adgrv1	A	T	13: 81,668,780 (GRCm39)	V2592E	probably damaging	Het
Ahdc1	A	G	4: 132,790,825 (GRCm39)	S689G	probably benign	Het
Ankrd24	G	A	10: 81,474,523 (GRCm39)	G229E	unknown	Het
Ankrd34c	T	A	9: 89,610,914 (GRCm39)	I476F	probably damaging	Het
Arhgef19	A	G	4: 140,984,090 (GRCm39)	H770R	possibly damaging	Het
Arhgef4	T	G	1: 34,771,316 (GRCm39)	S1208A	possibly damaging	Het
Arid1a	A	T	4: 133,418,466 (GRCm39)	M654K	unknown	Het
Atp11b	T	A	3: 35,864,259 (GRCm39)		probably null	Het
Cadps	A	G	14: 12,454,260 (GRCm38)	I1086T	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap276	T	A	3: 108,449,848 (GRCm39)	D42E	probably benign	Het
Cntn3	T	C	6: 102,142,337 (GRCm39)	H1010R	probably benign	Het
Cyp2c66	T	A	19: 39,159,472 (GRCm39)	Y308N	probably damaging	Het
Dok6	T	A	18: 89,492,067 (GRCm39)	H170L	probably damaging	Het
Eefsec	C	T	6: 88,258,576 (GRCm39)	D506N	possibly damaging	Het
Fam181a	C	T	12: 103,282,805 (GRCm39)	P237S	probably damaging	Het
Fam186b	T	C	15: 99,184,867 (GRCm39)	I19V	probably damaging	Het
Gm3285	A	T	10: 77,697,865 (GRCm39)	T5S	unknown	Het
Heg1	A	G	16: 33,547,733 (GRCm39)	E864G	probably benign	Het
Herc2	T	A	7: 55,803,023 (GRCm39)	L2124*	probably null	Het
Hexa	T	C	9: 59,469,230 (GRCm39)	S331P	probably damaging	Het
Hspb1	A	T	5: 135,917,223 (GRCm39)	D104V	probably damaging	Het
Ikzf1	A	T	11: 11,719,019 (GRCm39)	Q329L	probably damaging	Het
Kcnf1	C	A	12: 17,224,787 (GRCm39)	R478L	probably benign	Het
Kdm3a	T	C	6: 71,568,937 (GRCm39)	T1161A	possibly damaging	Het
Krtap31-2	T	C	11: 99,827,429 (GRCm39)	I87T	possibly damaging	Het
Lars2	T	C	9: 123,224,176 (GRCm39)	S116P		Het
Lrrk2	A	G	15: 91,657,061 (GRCm39)	D1785G	probably damaging	Het
Myo10	A	G	15: 25,701,709 (GRCm39)	H61R	probably benign	Het
Or10x4	T	G	1: 174,219,220 (GRCm39)	F195C	probably damaging	Het
Pcdhb4	C	A	18: 37,442,602 (GRCm39)	H637Q	probably benign	Het
Pcsk9	T	A	4: 106,304,763 (GRCm39)	D435V	probably benign	Het
Prickle2	T	A	6: 92,402,631 (GRCm39)	Y119F	possibly damaging	Het
Prr5	A	G	15: 84,641,276 (GRCm39)	T181A	probably benign	Het
Psd	T	A	19: 46,301,877 (GRCm39)	Q903L	probably damaging	Het
Ptpn13	T	A	5: 103,649,331 (GRCm39)	S245T	probably benign	Het
Resp18	T	C	1: 75,254,882 (GRCm39)	S24G	probably damaging	Het
Slc17a4	T	C	13: 24,090,580 (GRCm39)	T89A	probably benign	Het
Slc9a9	A	G	9: 94,737,792 (GRCm39)	Y233C	probably damaging	Het
Slit1	T	A	19: 41,622,639 (GRCm39)	I707F	probably damaging	Het
Sp4	T	C	12: 118,218,174 (GRCm39)	E691G	possibly damaging	Het
Sun2	G	T	15: 79,623,225 (GRCm39)		probably null	Het
Syne3	T	C	12: 104,912,901 (GRCm39)	T723A	not run	Het
Tcp1	T	A	17: 13,141,540 (GRCm39)	F340I	possibly damaging	Het
Tmem39b	A	T	4: 129,587,694 (GRCm39)	V39D	probably damaging	Het
Tmtc3	A	T	10: 100,286,214 (GRCm39)	Y536*	probably null	Het
Tnfrsf11a	A	T	1: 105,755,094 (GRCm39)	T389S	probably damaging	Het
Ttn	T	C	2: 76,598,873 (GRCm39)	T19347A	possibly damaging	Het
Vmn1r68	A	G	7: 10,261,553 (GRCm39)	S182P	probably benign	Het
Vmn2r95	A	G	17: 18,660,352 (GRCm39)	T255A	probably benign	Het
Wdr59	T	C	8: 112,219,394 (GRCm39)	Y221C		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
R1590:Or9s13	UTSW	1	92,548,467 (GRCm39)	missense	possibly damaging	0.64
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
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'- GGCTACCACTGAGACTTTCCTC -3'
(R):5'- AGGTGGAGAAGACCTTGTGC -3'

Sequencing Primer
(F):5'- AGCTGTGATGGCCTATGATC -3'
(R):5'- GAAGACCTTGTGCCTCCCAGATC -3'

Posted On

2019-10-24