Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03230:Or2ag17'

413843

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2ag17

Ensembl Gene

ENSMUSG00000096714

Gene Name

olfactory receptor family 2 subfamily AG member 17

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL03230

Quality Score

Status

Chromosome

Chromosomal Location

106389256-106390206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106389911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 99 (L99P)

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: L99P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068023
Gene: ENSMUSG00000096714
AA Change: L99P

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: L99P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216307
AA Change: L99P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,244,313 (GRCm39)	Q2059K	probably benign	Het
Abcc1	A	T	16: 14,275,811 (GRCm39)	T902S	probably benign	Het
Acly	A	T	11: 100,384,885 (GRCm39)	C623S	probably damaging	Het
Ak8	A	G	2: 28,599,935 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,918,065 (GRCm39)	D1811G	probably damaging	Het
Bms1	T	A	6: 118,395,522 (GRCm39)	K8N	possibly damaging	Het
Cdc25b	T	C	2: 131,030,060 (GRCm39)	F79L	probably benign	Het
Cdh13	T	A	8: 119,969,056 (GRCm39)	V471D	probably damaging	Het
Cnot4	T	C	6: 35,028,344 (GRCm39)	D424G	probably damaging	Het
Cyp2a12	A	T	7: 26,729,017 (GRCm39)	I70F	possibly damaging	Het
Cyp2c66	A	T	19: 39,172,302 (GRCm39)	R406W	possibly damaging	Het
Cyp2g1	C	A	7: 26,518,828 (GRCm39)	P408Q	probably damaging	Het
Defa26	A	G	8: 22,108,314 (GRCm39)	D39G	probably damaging	Het
Dnah1	A	T	14: 30,992,023 (GRCm39)	S3020T	probably damaging	Het
Dst	A	T	1: 34,223,133 (GRCm39)	K1119*	probably null	Het
Gm10110	A	C	14: 90,135,733 (GRCm39)		noncoding transcript	Het
Grk2	C	T	19: 4,337,857 (GRCm39)	E508K	probably benign	Het
Hpx	A	T	7: 105,248,519 (GRCm39)	I94N	probably benign	Het
Il23r	C	T	6: 67,400,948 (GRCm39)	A461T	probably benign	Het
Iqca1	A	G	1: 90,072,724 (GRCm39)	I52T	probably damaging	Het
Kif21b	T	A	1: 136,090,550 (GRCm39)	M1146K	probably benign	Het
Kifap3	C	A	1: 163,653,293 (GRCm39)	T293K	probably benign	Het
Luzp1	G	A	4: 136,270,189 (GRCm39)	S804N	probably benign	Het
Mcmdc2	C	T	1: 10,002,221 (GRCm39)		probably benign	Het
Mctp1	G	T	13: 76,972,976 (GRCm39)	A403S	possibly damaging	Het
Mtnr1a	T	C	8: 45,540,435 (GRCm39)	I132T	probably damaging	Het
Musk	T	A	4: 58,296,710 (GRCm39)	N103K	probably damaging	Het
Nipal2	T	A	15: 34,575,702 (GRCm39)	D352V	probably damaging	Het
Oas1a	T	A	5: 121,036,419 (GRCm39)	K336I	probably benign	Het
Oasl1	T	C	5: 115,075,115 (GRCm39)	S392P	probably damaging	Het
Or3a1c	A	G	11: 74,046,099 (GRCm39)	T40A	probably benign	Het
Or4c117	A	G	2: 88,955,892 (GRCm39)	F61S	probably damaging	Het
Or4c120	A	T	2: 89,001,433 (GRCm39)	M41K	possibly damaging	Het
Or4c58	T	C	2: 89,674,457 (GRCm39)	T287A	probably benign	Het
Or5m8	A	T	2: 85,822,583 (GRCm39)	T141S	probably benign	Het
Pate3	T	G	9: 35,557,402 (GRCm39)	T85P	probably benign	Het
Piezo2	T	C	18: 63,174,791 (GRCm39)	N1988D	probably damaging	Het
Plcxd3	T	A	15: 4,546,272 (GRCm39)	I92N	probably damaging	Het
Ptprd	T	A	4: 75,968,654 (GRCm39)	R213*	probably null	Het
Skic3	T	A	13: 76,303,766 (GRCm39)		probably benign	Het
Slit1	T	C	19: 41,717,524 (GRCm39)	D80G	probably damaging	Het
Sorcs1	A	G	19: 50,230,531 (GRCm39)	V472A	probably damaging	Het
Trp63	T	A	16: 25,707,760 (GRCm39)	D485E	probably damaging	Het
Tsr1	T	C	11: 74,791,297 (GRCm39)	V292A	probably benign	Het
Ush2a	G	T	1: 188,198,390 (GRCm39)	A1485S	probably benign	Het
Vmn1r49	T	A	6: 90,049,650 (GRCm39)	R117S	probably damaging	Het
Vmn2r97	C	A	17: 19,149,668 (GRCm39)	P352H	probably benign	Het
Zxdc	C	T	6: 90,350,785 (GRCm39)	T412I	probably 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
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
R4163:Or2ag17	UTSW	7	106,389,486 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02