Mutagenetix > Incidental Mutation

Incidental Mutation 'R6976:Or2ag17'

542460

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

045382-MU

Accession Numbers

Essential gene?

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

Stock #

R6976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106389256-106390206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106389434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 258 (M258K)

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: M258K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068023
Gene: ENSMUSG00000096714
AA Change: M258K

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: M258K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216307
AA Change: M258K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,397,929 (GRCm39)		probably null	Het
Adamts4	G	T	1: 171,079,877 (GRCm39)		probably benign	Het
Adgrv1	T	A	13: 81,669,116 (GRCm39)	K2480M	probably damaging	Het
Ankhd1	A	C	18: 36,781,307 (GRCm39)	S2120R	probably benign	Het
Ash1l	T	A	3: 88,888,964 (GRCm39)	V281E	possibly damaging	Het
Bdh1	G	A	16: 31,256,847 (GRCm39)	A35T	probably benign	Het
Brpf3	A	G	17: 29,054,751 (GRCm39)	M1098V	probably damaging	Het
Cel	G	A	2: 28,446,854 (GRCm39)	S439F	probably damaging	Het
Dnah11	T	C	12: 118,162,378 (GRCm39)	S64G	probably benign	Het
Dpp7	T	C	2: 25,244,836 (GRCm39)		probably null	Het
Fam83c	T	A	2: 155,672,157 (GRCm39)	Y426F	possibly damaging	Het
Fasn	A	G	11: 120,710,693 (GRCm39)	I322T	probably damaging	Het
Glod4	A	G	11: 76,134,406 (GRCm39)	F22S	probably damaging	Het
Gm3127	A	G	14: 15,432,190 (GRCm39)	T231A	possibly damaging	Het
Gm49383	A	G	12: 69,243,730 (GRCm39)	S444P	possibly damaging	Het
Gnaz	T	C	10: 74,827,268 (GRCm39)	S7P	possibly damaging	Het
Grin2b	C	T	6: 135,757,198 (GRCm39)	S421N	probably benign	Het
Grm1	T	C	10: 10,564,924 (GRCm39)	D1128G	probably benign	Het
Hoxb13	A	G	11: 96,087,044 (GRCm39)	T284A	probably benign	Het
Il9r	G	A	11: 32,143,177 (GRCm39)	Q260*	probably null	Het
Lrrfip1	T	A	1: 91,042,737 (GRCm39)	C381S	probably benign	Het
Mitd1	A	T	1: 37,921,778 (GRCm39)	D85E	probably benign	Het
Muc4	G	A	16: 32,582,892 (GRCm39)	D2556N	possibly damaging	Het
Nlrc4	A	G	17: 74,752,934 (GRCm39)	I483T	probably damaging	Het
Or13e8	A	G	4: 43,697,170 (GRCm39)	M1T	probably null	Het
Or8g4	A	G	9: 39,662,540 (GRCm39)	N286S	probably damaging	Het
Pcdhb7	C	A	18: 37,476,631 (GRCm39)	A589E	probably benign	Het
Pcdhgb5	G	A	18: 37,864,321 (GRCm39)	E39K	probably damaging	Het
Pja2	T	C	17: 64,615,954 (GRCm39)	K314E	probably damaging	Het
Plcb1	A	G	2: 135,104,159 (GRCm39)	E276G	possibly damaging	Het
Ppp2r5c	A	G	12: 110,510,579 (GRCm39)	E122G	probably damaging	Het
Prrc2c	A	T	1: 162,520,413 (GRCm39)	N732K	probably damaging	Het
Rb1cc1	T	A	1: 6,333,126 (GRCm39)	D1348E	probably benign	Het
Sh3rf1	G	T	8: 61,814,766 (GRCm39)	E442*	probably null	Het
Snapc1	A	G	12: 74,016,974 (GRCm39)	D204G	probably damaging	Het
Sry	C	T	Y: 2,662,938 (GRCm39)	D241N	unknown	Het
Strn4	T	A	7: 16,564,279 (GRCm39)	M303K	probably benign	Het
Tas2r118	A	G	6: 23,969,470 (GRCm39)	I197T	probably benign	Het
Tnni3k	A	G	3: 154,498,413 (GRCm39)	Y809H	probably benign	Het
Tnpo3	A	T	6: 29,572,594 (GRCm39)	C419*	probably null	Het
Trpm6	T	C	19: 18,760,527 (GRCm39)	S143P	probably benign	Het
Ttc23l	A	T	15: 10,537,666 (GRCm39)	C201*	probably null	Het
Ubr4	A	G	4: 139,120,388 (GRCm39)	N271S	probably damaging	Het
Vmn1r70	T	C	7: 10,367,971 (GRCm39)	M134T	probably benign	Het
Vmn2r27	C	T	6: 124,201,312 (GRCm39)	W215*	probably null	Het
Xirp1	A	T	9: 119,846,984 (GRCm39)	M633K	probably damaging	Het
Zfp174	T	C	16: 3,665,804 (GRCm39)	I23T	possibly damaging	Het
Zfp536	T	A	7: 37,179,828 (GRCm39)	S926C	probably damaging	Het
Zfp943	T	C	17: 22,209,922 (GRCm39)	S65P	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
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
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'- TAGACTGTGTAGGCAGAAACCAC -3'
(R):5'- ATCCCTCCATTGCTGAAGC -3'

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

Posted On

2018-11-28