Mutagenetix > Incidental Mutation

Incidental Mutation 'R4163:Or2ag17'

321604

Institutional Source

Beutler Lab

Gene Symbol

Or2ag17

Ensembl Gene

ENSMUSG00000096714

Gene Name

olfactory receptor family 2 subfamily AG member 17

Synonyms

MOR283-10P, GA_x6K02T2PBJ9-9168355-9167405, Olfr699

MMRRC Submission

041006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R4163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106389256-106390206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106389486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 241 (C241S)

Ref Sequence

ENSEMBL: ENSMUSP00000149112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065024] [ENSMUST00000215952] [ENSMUST00000216307]

AlphaFold

Q7TRN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000065024
AA Change: C241S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068023
Gene: ENSMUSG00000096714
AA Change: C241S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.3e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	303	2.1e-5	PFAM
Pfam:7tm_1	41	290	1.1e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215952
AA Change: C241S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216307
AA Change: C241S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.3349

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	G	A	8: 49,948,531 (GRCm39)		noncoding transcript	Het
Abca8a	C	T	11: 109,941,808 (GRCm39)	D1154N	probably benign	Het
Adgrf4	A	G	17: 42,978,477 (GRCm39)	F289L	probably benign	Het
Alkbh2	A	G	5: 114,265,613 (GRCm39)	L63S	probably damaging	Het
Atp13a4	A	T	16: 29,360,068 (GRCm39)	N19K	possibly damaging	Het
Birc6	T	A	17: 74,933,975 (GRCm39)	Y2544N	probably damaging	Het
Bnip5	T	C	17: 29,118,503 (GRCm39)	Y643C	probably benign	Het
Bpifa3	A	G	2: 153,977,516 (GRCm39)	N118S	probably damaging	Het
Chst10	T	A	1: 38,910,904 (GRCm39)	M87L	probably benign	Het
Cnot9	C	T	1: 74,568,006 (GRCm39)	P298L	probably damaging	Het
Cops5	T	C	1: 10,100,912 (GRCm39)	Y228C	probably damaging	Het
Dcaf8	T	G	1: 172,020,137 (GRCm39)	L492R	probably damaging	Het
Dis3l2	A	G	1: 86,748,959 (GRCm39)	S128G	probably benign	Het
Dock1	A	G	7: 134,346,051 (GRCm39)	R198G	possibly damaging	Het
Elovl7	T	A	13: 108,403,904 (GRCm39)	M82K	possibly damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Fcgr2b	T	C	1: 170,791,016 (GRCm39)	D259G	possibly damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Frk	C	T	10: 34,467,868 (GRCm39)	P294L	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm128	C	A	3: 95,147,802 (GRCm39)	R164L	probably benign	Het
Gm2223	C	T	X: 32,943,247 (GRCm39)		noncoding transcript	Het
Hexd	C	A	11: 121,111,975 (GRCm39)	A423E	probably benign	Het
Itgax	G	T	7: 127,743,872 (GRCm39)	V878F	probably benign	Het
Kank2	A	T	9: 21,706,864 (GRCm39)	D51E	probably damaging	Het
Kcna4	G	C	2: 107,126,151 (GRCm39)	W295S	probably damaging	Het
Mfsd12	A	G	10: 81,196,931 (GRCm39)		probably null	Het
Mis12	A	G	11: 70,916,482 (GRCm39)	T172A	probably benign	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Myo18a	G	T	11: 77,720,534 (GRCm39)	R1103L	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Ntrk2	T	C	13: 59,008,054 (GRCm39)	V272A	probably damaging	Het
Or5p64	A	T	7: 107,855,039 (GRCm39)	I102N	probably benign	Het
Or7e165	A	T	9: 19,695,086 (GRCm39)	Y219F	possibly damaging	Het
Pcdh20	C	T	14: 88,705,615 (GRCm39)	D562N	probably damaging	Het
Prep	T	C	10: 44,943,436 (GRCm39)	F4L	probably benign	Het
Prep	G	T	10: 44,943,458 (GRCm39)	R11L	possibly damaging	Het
Ptgs1	C	T	2: 36,141,346 (GRCm39)	R598C	possibly damaging	Het
Rasgrp1	T	C	2: 117,113,135 (GRCm39)	D759G	probably benign	Het
Setd5	T	C	6: 113,096,545 (GRCm39)	S584P	probably benign	Het
Shank3	A	G	15: 89,433,797 (GRCm39)	D1514G	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc44a5	A	T	3: 153,967,010 (GRCm39)	R565S	possibly damaging	Het
Slc7a5	A	G	8: 122,615,139 (GRCm39)	L236S	probably benign	Het
Slfn3	A	T	11: 83,103,596 (GRCm39)	I156F	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,607,080 (GRCm39)	V203A	probably benign	Het
Vrk2	T	A	11: 26,497,915 (GRCm39)	I90L	probably benign	Het
Zc3h12c	A	T	9: 52,026,999 (GRCm39)	Y788N	probably damaging	Het
Zfp831	A	G	2: 174,485,822 (GRCm39)	T166A	possibly damaging	Het

Other mutations in Or2ag17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Or2ag17	APN	7	106,389,796 (GRCm39)	missense	probably benign	0.12
IGL02093:Or2ag17	APN	7	106,390,030 (GRCm39)	missense	probably benign	0.12
IGL02404:Or2ag17	APN	7	106,389,566 (GRCm39)	missense	probably damaging	1.00
IGL03214:Or2ag17	APN	7	106,389,552 (GRCm39)	missense	probably benign
IGL03230:Or2ag17	APN	7	106,389,911 (GRCm39)	missense	probably damaging	1.00
R0194:Or2ag17	UTSW	7	106,390,030 (GRCm39)	missense	probably benign	0.12
R0523:Or2ag17	UTSW	7	106,389,533 (GRCm39)	missense	probably damaging	1.00
R1132:Or2ag17	UTSW	7	106,389,758 (GRCm39)	missense	possibly damaging	0.94
R1373:Or2ag17	UTSW	7	106,389,963 (GRCm39)	missense	probably benign	0.01
R1482:Or2ag17	UTSW	7	106,389,540 (GRCm39)	missense	probably benign	0.00
R1498:Or2ag17	UTSW	7	106,389,623 (GRCm39)	missense	possibly damaging	0.78
R1500:Or2ag17	UTSW	7	106,390,028 (GRCm39)	missense	probably damaging	1.00
R2656:Or2ag17	UTSW	7	106,389,720 (GRCm39)	missense	probably damaging	0.98
R4638:Or2ag17	UTSW	7	106,390,205 (GRCm39)	start codon destroyed	probably null	1.00
R5104:Or2ag17	UTSW	7	106,389,539 (GRCm39)	missense	possibly damaging	0.81
R6216:Or2ag17	UTSW	7	106,389,665 (GRCm39)	missense	probably benign	0.23
R6976:Or2ag17	UTSW	7	106,389,434 (GRCm39)	missense	probably damaging	0.99
R7129:Or2ag17	UTSW	7	106,389,690 (GRCm39)	missense	probably benign	0.00
R7130:Or2ag17	UTSW	7	106,389,389 (GRCm39)	missense	probably benign	0.35
R8104:Or2ag17	UTSW	7	106,390,338 (GRCm39)	start gained	probably benign
R8104:Or2ag17	UTSW	7	106,390,337 (GRCm39)	start gained	probably benign
R9057:Or2ag17	UTSW	7	106,389,296 (GRCm39)	missense	probably damaging	0.99
R9445:Or2ag17	UTSW	7	106,389,464 (GRCm39)	missense	probably damaging	1.00
Z1177:Or2ag17	UTSW	7	106,389,477 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACTGTGTAGGCAGAAACCAC -3'
(R):5'- TCCCTCCATTGCTGAAGCTG -3'

Sequencing Primer
(F):5'- TGTGTAGGCAGAAACCACTTACC -3'
(R):5'- AAGCTGGCTTGTGCAGAC -3'

Posted On

2015-06-12