Mutagenetix > Incidental Mutation

Incidental Mutation 'R9545:Or9i1'

720089

Institutional Source

Beutler Lab

Gene Symbol

Or9i1

Ensembl Gene

ENSMUSG00000056858

Gene Name

olfactory receptor family 9 subfamily I member 1

Synonyms

GA_x6K02T2RE5P-4193992-4194942, Olfr1502, MOR211-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R9545 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13839159-13840109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13839217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 20 (H20R)

Ref Sequence

ENSEMBL: ENSMUSP00000073843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074221]

AlphaFold

Q8VG66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074221
AA Change: H20R

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073843
Gene: ENSMUSG00000056858
AA Change: H20R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	7.1e-43	PFAM
Pfam:7tm_1	41	290	1.6e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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
Abca13	T	A	11: 9,416,538 (GRCm39)	L4100Q	probably damaging	Het
Acss2	C	A	2: 155,403,716 (GRCm39)	P652T	probably damaging	Het
Agl	A	T	3: 116,582,338 (GRCm39)	I228N	possibly damaging	Het
Ap5m1	C	G	14: 49,311,271 (GRCm39)	Q114E	possibly damaging	Het
Apob	C	T	12: 8,033,890 (GRCm39)	T201I	possibly damaging	Het
As3mt	G	A	19: 46,696,233 (GRCm39)	V14I	probably damaging	Het
Atp1a4	T	C	1: 172,078,464 (GRCm39)	N258S	probably benign	Het
Atxn1l	C	T	8: 110,458,688 (GRCm39)	V525M	probably damaging	Het
B4galnt4	T	C	7: 140,644,804 (GRCm39)	V208A	probably benign	Het
Bet1	A	T	6: 4,077,973 (GRCm39)	S89T	probably damaging	Het
Cdhr1	T	G	14: 36,817,016 (GRCm39)	N115T	possibly damaging	Het
Cstf1	C	T	2: 172,212,885 (GRCm39)		probably benign	Het
Dcdc2c	G	T	12: 28,602,295 (GRCm39)	T3K	possibly damaging	Het
Deup1	C	T	9: 15,519,120 (GRCm39)	E129K	possibly damaging	Het
Dgkg	T	C	16: 22,385,168 (GRCm39)	E446G	possibly damaging	Het
Dolk	A	G	2: 30,176,016 (GRCm39)	S10P	probably benign	Het
Gm1110	T	C	9: 26,800,977 (GRCm39)	T406A	probably benign	Het
Gm8439	C	T	4: 120,445,957 (GRCm39)		probably benign	Het
Gna12	A	G	5: 140,746,575 (GRCm39)	I290T	probably damaging	Het
Gtf2h1	T	C	7: 46,458,112 (GRCm39)		probably null	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Itgal	T	C	7: 126,929,422 (GRCm39)	F1113S	probably damaging	Het
Kcnc3	T	C	7: 44,245,357 (GRCm39)	L549P	probably damaging	Het
Klhl26	T	C	8: 70,904,164 (GRCm39)	D582G	probably damaging	Het
Lhfpl5	C	A	17: 28,799,079 (GRCm39)	A196D	probably damaging	Het
Lipm	T	C	19: 34,090,392 (GRCm39)	M191T	probably benign	Het
Lrp6	A	G	6: 134,483,329 (GRCm39)	Y459H	probably damaging	Het
Lzts1	C	A	8: 69,591,286 (GRCm39)	K287N	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mmp23	T	A	4: 155,735,980 (GRCm39)	Q224L	probably benign	Het
Ms4a13	C	G	19: 11,147,332 (GRCm39)	S194T	unknown	Het
Ms4a2	A	G	19: 11,596,237 (GRCm39)	F164S	probably benign	Het
Nudt15	A	T	14: 73,760,918 (GRCm39)	C58S	probably damaging	Het
Or2w25	A	G	11: 59,504,275 (GRCm39)	T162A	probably benign	Het
Or8h6	T	C	2: 86,703,615 (GRCm39)	I151V	probably benign	Het
Panx3	A	G	9: 37,575,437 (GRCm39)	F142L	probably damaging	Het
Pik3r6	T	C	11: 68,422,365 (GRCm39)	Y255H	probably damaging	Het
Pnpt1	T	C	11: 29,106,840 (GRCm39)	V637A	probably benign	Het
Ppfibp2	T	C	7: 107,337,504 (GRCm39)	L602P	probably damaging	Het
Ppp2r3d	T	C	9: 101,089,214 (GRCm39)	N370D	probably benign	Het
Ppp2r5d	A	T	17: 46,995,687 (GRCm39)	I454N	probably damaging	Het
Pramel17	C	A	4: 101,693,097 (GRCm39)	C301F	probably damaging	Het
Radil	A	G	5: 142,492,392 (GRCm39)	V412A	probably benign	Het
Reep3	TTGACAGATTTCATG	TTG	10: 66,850,703 (GRCm39)		probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skic3	T	A	13: 76,259,832 (GRCm39)	V44D	probably damaging	Het
Spink5	G	A	18: 44,136,262 (GRCm39)	V558I	possibly damaging	Het
Stxbp5l	T	C	16: 37,028,625 (GRCm39)		probably null	Het
Svs5	T	A	2: 164,079,313 (GRCm39)	Q198L	possibly damaging	Het
Thap2	A	T	10: 115,208,834 (GRCm39)	N95K	probably benign	Het
Tie1	A	G	4: 118,336,112 (GRCm39)	V718A	probably benign	Het
Trpm3	G	A	19: 22,878,458 (GRCm39)	E632K	probably benign	Het
Ube4a	A	T	9: 44,843,638 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,618,511 (GRCm39)	I1163T	probably benign	Het
Vav2	C	T	2: 27,173,351 (GRCm39)	R491Q	probably damaging	Het
Wapl	T	A	14: 34,399,050 (GRCm39)	F40I	probably damaging	Het
Wdfy3	A	C	5: 102,100,957 (GRCm39)	I220R		Het
Xrra1	T	A	7: 99,535,334 (GRCm39)	V213D	possibly damaging	Het
Zwilch	A	T	9: 64,051,415 (GRCm39)	V550E	probably damaging	Het

Other mutations in Or9i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Or9i1	APN	19	13,839,150 (GRCm39)	unclassified	probably benign
IGL01061:Or9i1	APN	19	13,840,069 (GRCm39)	missense	possibly damaging	0.94
IGL01534:Or9i1	APN	19	13,839,283 (GRCm39)	missense	probably damaging	1.00
IGL02017:Or9i1	APN	19	13,839,595 (GRCm39)	missense	possibly damaging	0.58
IGL02039:Or9i1	APN	19	13,840,083 (GRCm39)	nonsense	probably null
IGL02173:Or9i1	APN	19	13,839,378 (GRCm39)	missense	probably benign	0.00
IGL02219:Or9i1	APN	19	13,839,187 (GRCm39)	missense	probably damaging	1.00
IGL02475:Or9i1	APN	19	13,839,663 (GRCm39)	missense	probably damaging	1.00
IGL02604:Or9i1	APN	19	13,839,170 (GRCm39)	missense	probably benign	0.01
R0012:Or9i1	UTSW	19	13,839,187 (GRCm39)	missense	probably damaging	0.98
R0594:Or9i1	UTSW	19	13,839,643 (GRCm39)	missense	probably benign	0.04
R2184:Or9i1	UTSW	19	13,839,399 (GRCm39)	missense	probably benign	0.02
R2518:Or9i1	UTSW	19	13,839,673 (GRCm39)	missense	probably damaging	1.00
R5541:Or9i1	UTSW	19	13,839,328 (GRCm39)	missense	probably benign
R5587:Or9i1	UTSW	19	13,839,940 (GRCm39)	missense	probably damaging	1.00
R6211:Or9i1	UTSW	19	13,839,938 (GRCm39)	missense	probably benign	0.01
R6351:Or9i1	UTSW	19	13,839,186 (GRCm39)	missense	probably benign	0.04
R7575:Or9i1	UTSW	19	13,839,381 (GRCm39)	missense	probably damaging	1.00
R8425:Or9i1	UTSW	19	13,839,849 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAACCTGAAGAGTATGTGCCTC -3'
(R):5'- ACTGAAGTATAGCAGGCATCC -3'

Sequencing Primer
(F):5'- ACCTGAAGAGTATGTGCCTCTTATC -3'
(R):5'- TCCAACACAGAGAGATGGCTCAG -3'

Posted On

2022-07-18