Mutagenetix > Incidental Mutation

Incidental Mutation 'R8508:Or9i2'

655733

Institutional Source

Beutler Lab

Gene Symbol

Or9i2

Ensembl Gene

ENSMUSG00000057270

Gene Name

olfactory receptor family 9 subfamily I member 2

Synonyms

GA_x6K02T2RE5P-4171358-4170411, Olfr1501, MOR212-3

MMRRC Submission

067844-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13815588-13816535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13815766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 257 (M257K)

Ref Sequence

ENSEMBL: ENSMUSP00000147096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073966] [ENSMUST00000208493] [ENSMUST00000215350]

AlphaFold

Q8VFQ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073966
AA Change: M257K

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073620
Gene: ENSMUSG00000057270
AA Change: M257K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1.8e-45	PFAM
Pfam:7tm_1	40	306	7.1e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208493
AA Change: M257K

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215350
AA Change: M257K

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

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
4932438H23Rik	T	G	16: 90,852,500 (GRCm39)	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,375,795 (GRCm39)	N154D	probably damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
Ankrd27	T	A	7: 35,301,051 (GRCm39)	L117*	probably null	Het
Arhgap21	C	T	2: 20,858,991 (GRCm39)	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,674,764 (GRCm39)	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,273,587 (GRCm39)	K444*	probably null	Het
Atp6v1a	G	A	16: 43,922,225 (GRCm39)	R338C	probably damaging	Het
Canx	T	C	11: 50,202,474 (GRCm39)	D44G	possibly damaging	Het
Ccdc141	T	A	2: 76,962,588 (GRCm39)	M119L	probably benign	Het
Ckmt1	A	C	2: 121,193,172 (GRCm39)	Q299P	possibly damaging	Het
Dhx16	T	C	17: 36,196,812 (GRCm39)	S601P	probably damaging	Het
Dna2	A	C	10: 62,786,673 (GRCm39)	R140S	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Eif1ad10	T	G	12: 88,216,455 (GRCm39)	E139A	unknown	Het
Eogt	A	G	6: 97,120,959 (GRCm39)	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,056,707 (GRCm39)	M1K	probably null	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394 (GRCm38)	V2571I	probably damaging	Het
Gm43518	A	G	5: 124,076,322 (GRCm39)	E123G	unknown	Het
Gpatch2	A	G	1: 187,036,552 (GRCm39)	N374S	probably benign	Het
Hey1	G	C	3: 8,729,836 (GRCm39)	A207G	probably benign	Het
Hoxa11	T	C	6: 52,222,782 (GRCm39)		probably benign	Het
Hydin	G	A	8: 111,308,650 (GRCm39)	V3979I	probably benign	Het
Ighe	C	T	12: 113,235,413 (GRCm39)	W277*	probably null	Het
Kmt2c	G	T	5: 25,519,120 (GRCm39)	T2330K	probably benign	Het
Krt6a	T	A	15: 101,601,170 (GRCm39)	K261M	probably damaging	Het
Lats2	A	C	14: 57,960,162 (GRCm39)	S161A	probably benign	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Mipol1	T	C	12: 57,352,874 (GRCm39)	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Npepps	A	G	11: 97,135,252 (GRCm39)		probably null	Het
Ntn4	A	T	10: 93,576,966 (GRCm39)	N545Y	possibly damaging	Het
Or11g1	A	C	14: 50,651,132 (GRCm39)	M44L	probably benign	Het
Or1n1b	A	G	2: 36,780,366 (GRCm39)	S165P	probably damaging	Het
Or2m12	T	C	16: 19,105,451 (GRCm39)	D14G	probably benign	Het
Osbpl2	T	A	2: 179,797,136 (GRCm39)	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,108,245 (GRCm39)	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,751,806 (GRCm39)	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,361,872 (GRCm39)	R373S	probably damaging	Het
Rnf130	A	G	11: 49,978,264 (GRCm39)	D275G	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,694 (GRCm39)	I26V	probably benign	Het
Setd5	T	C	6: 113,098,048 (GRCm39)	S696P	probably damaging	Het
Sgip1	A	G	4: 102,772,268 (GRCm39)	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,566,430 (GRCm39)		probably null	Het
Slc22a12	T	C	19: 6,592,467 (GRCm39)	T106A	probably benign	Het
Slc22a14	A	G	9: 119,009,651 (GRCm39)	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,539,421 (GRCm39)	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,440,396 (GRCm39)	D117E	probably benign	Het
Spata31d1e	A	G	13: 59,891,412 (GRCm39)	L136P	probably benign	Het
Sphkap	G	A	1: 83,254,221 (GRCm39)	T1176I	probably damaging	Het
Supt16	A	T	14: 52,419,046 (GRCm39)	V193D	probably damaging	Het
Sytl3	A	G	17: 6,995,690 (GRCm39)	T362A	probably damaging	Het
Tctn1	T	A	5: 122,384,674 (GRCm39)	Q410L	probably benign	Het
Trbc2	T	C	6: 41,524,711 (GRCm39)	Y133H		Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,832,843 (GRCm39)	V112A	probably benign	Het
Zfp354b	A	T	11: 50,814,297 (GRCm39)	S209R	probably benign	Het
Zfp362	T	C	4: 128,668,399 (GRCm39)	H391R	probably damaging	Het

Other mutations in Or9i2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Or9i2	APN	19	13,816,316 (GRCm39)	missense	probably damaging	0.98
IGL01724:Or9i2	APN	19	13,816,225 (GRCm39)	missense	probably damaging	1.00
IGL02075:Or9i2	APN	19	13,815,830 (GRCm39)	missense	probably damaging	0.99
IGL02179:Or9i2	APN	19	13,815,851 (GRCm39)	missense	probably benign	0.01
IGL02410:Or9i2	APN	19	13,816,495 (GRCm39)	missense	probably benign
IGL02927:Or9i2	APN	19	13,816,288 (GRCm39)	missense	probably benign	0.05
R0234:Or9i2	UTSW	19	13,815,902 (GRCm39)	missense	possibly damaging	0.62
R0234:Or9i2	UTSW	19	13,815,902 (GRCm39)	missense	possibly damaging	0.62
R2149:Or9i2	UTSW	19	13,815,946 (GRCm39)	missense	probably damaging	1.00
R3442:Or9i2	UTSW	19	13,816,370 (GRCm39)	missense	possibly damaging	0.92
R3922:Or9i2	UTSW	19	13,816,130 (GRCm39)	missense	probably damaging	1.00
R3924:Or9i2	UTSW	19	13,816,130 (GRCm39)	missense	probably damaging	1.00
R4856:Or9i2	UTSW	19	13,815,643 (GRCm39)	missense	probably damaging	0.99
R4886:Or9i2	UTSW	19	13,815,643 (GRCm39)	missense	probably damaging	0.99
R5175:Or9i2	UTSW	19	13,815,680 (GRCm39)	missense	probably damaging	1.00
R5636:Or9i2	UTSW	19	13,815,701 (GRCm39)	missense	possibly damaging	0.78
R5716:Or9i2	UTSW	19	13,816,003 (GRCm39)	missense	probably damaging	1.00
R6080:Or9i2	UTSW	19	13,816,464 (GRCm39)	missense	possibly damaging	0.76
R6849:Or9i2	UTSW	19	13,816,203 (GRCm39)	nonsense	probably null
R7011:Or9i2	UTSW	19	13,816,403 (GRCm39)	missense	probably benign	0.04
R8223:Or9i2	UTSW	19	13,816,225 (GRCm39)	missense	probably damaging	1.00
R9176:Or9i2	UTSW	19	13,815,796 (GRCm39)	missense	probably damaging	1.00
X0026:Or9i2	UTSW	19	13,816,021 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- GCCCAACAGATAGGAACTTCAG -3'
(R):5'- TACGCGAACAGGTCATCTTCC -3'

Sequencing Primer
(F):5'- CTTCAGACTGATGAAGCTTTAAGTC -3'
(R):5'- GCGAACAGGTCATCTTCCTTTTTG -3'

Posted On

2020-10-20