Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00163:Or2ag17'

1457

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 #

IGL00163

Quality Score

Status

Chromosome

Chromosomal Location

106389256-106390206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106389796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 137 (R137S)

Ref Sequence

ENSEMBL: ENSMUSP00000149112 (fasta)

Gene Model

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

AlphaFold

Q7TRN3

Predicted Effect

probably benign
Transcript: ENSMUST00000065024
AA Change: R137S

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000068023
Gene: ENSMUSG00000096714
AA Change: R137S

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 benign
Transcript: ENSMUST00000215952
AA Change: R137S

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216307
AA Change: R137S

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	G	A	4: 88,786,310 (GRCm39)	Q103*	probably null	Het
4933406P04Rik	C	A	10: 20,186,970 (GRCm39)		probably benign	Het
Adgrg6	T	C	10: 14,343,194 (GRCm39)	E251G	probably damaging	Het
Ago2	T	C	15: 72,998,302 (GRCm39)	H292R	probably benign	Het
Akr1c6	T	C	13: 4,498,977 (GRCm39)		probably benign	Het
Arhgap24	T	A	5: 103,008,265 (GRCm39)	M62K	possibly damaging	Het
Bicd1	A	G	6: 149,451,888 (GRCm39)	H834R	possibly damaging	Het
Ccdc77	G	T	6: 120,306,045 (GRCm39)		probably benign	Het
Cdadc1	G	T	14: 59,818,818 (GRCm39)	H337N	probably damaging	Het
Cep192	A	G	18: 68,013,871 (GRCm39)	T2424A	possibly damaging	Het
Cep78	T	C	19: 15,946,504 (GRCm39)	T443A	probably benign	Het
Chrna1	T	A	2: 73,400,986 (GRCm39)	E181D	probably benign	Het
Dmxl1	G	A	18: 49,984,534 (GRCm39)	D177N	probably damaging	Het
Eif3h	T	A	15: 51,650,195 (GRCm39)	I330F	probably damaging	Het
Fam184b	T	C	5: 45,697,091 (GRCm39)	E691G	probably benign	Het
Fastkd1	T	A	2: 69,537,893 (GRCm39)	S230C	probably benign	Het
Gipc2	T	C	3: 151,843,215 (GRCm39)	I141V	probably damaging	Het
Hsd17b2	A	T	8: 118,485,410 (GRCm39)	D291V	probably damaging	Het
Itpr2	G	A	6: 146,292,334 (GRCm39)	A420V	possibly damaging	Het
Jag1	C	T	2: 136,927,952 (GRCm39)		probably null	Het
Minar1	A	T	9: 89,473,150 (GRCm39)		probably benign	Het
Mmp1b	T	A	9: 7,387,946 (GRCm39)	Y16F	probably benign	Het
Muc4	G	T	16: 32,754,090 (GRCm38)	R1322M	probably benign	Het
Myo9b	T	C	8: 71,801,379 (GRCm39)	I1179T	probably benign	Het
Nos1ap	A	G	1: 170,342,175 (GRCm39)		probably benign	Het
Npc1l1	A	T	11: 6,174,199 (GRCm39)	V702E	probably damaging	Het
Or13d1	G	A	4: 52,971,058 (GRCm39)	V146M	possibly damaging	Het
Or1j21	A	G	2: 36,684,012 (GRCm39)	I255V	probably benign	Het
Or2y10	A	C	11: 49,454,747 (GRCm39)		probably benign	Het
Or4c31	A	T	2: 88,291,696 (GRCm39)	Y4F	probably benign	Het
Or4f7	A	C	2: 111,644,126 (GRCm39)		probably benign	Het
Osmr	A	T	15: 6,873,926 (GRCm39)	L157*	probably null	Het
Pdzph1	T	C	17: 59,281,791 (GRCm39)	T164A	possibly damaging	Het
Ptn	T	C	6: 36,720,424 (GRCm39)	K43E	probably benign	Het
Rbm45	T	C	2: 76,209,051 (GRCm39)	V340A	probably damaging	Het
Rnf5	C	T	17: 34,821,083 (GRCm39)	G83E	probably damaging	Het
Scin	G	T	12: 40,126,971 (GRCm39)	Q459K	probably benign	Het
Serpina5	C	A	12: 104,071,479 (GRCm39)	A362D	probably damaging	Het
Tex47	T	A	5: 7,355,468 (GRCm39)	Y216*	probably null	Het
Tll1	A	T	8: 64,469,170 (GRCm39)	H984Q	probably benign	Het
Tmem259	A	G	10: 79,815,568 (GRCm39)	V81A	probably benign	Het
Tns3	A	T	11: 8,401,066 (GRCm39)	S1077R	probably benign	Het
Trgv3	G	A	13: 19,427,381 (GRCm39)	S88N	probably benign	Het
Ttc17	A	G	2: 94,153,428 (GRCm39)		probably benign	Het
Tubgcp2	T	C	7: 139,610,935 (GRCm39)	T149A	possibly damaging	Het
Ulk1	G	A	5: 110,935,738 (GRCm39)	A25V	probably damaging	Het
Vps13d	T	C	4: 144,895,110 (GRCm39)	E378G	probably damaging	Het
Vsig10	A	G	5: 117,476,479 (GRCm39)	N311S	probably benign	Het
Zfp511	T	C	7: 139,617,429 (GRCm39)	Y144H	possibly damaging	Het

Other mutations in Or2ag17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-07-12