Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02388:Or13a17'

291613

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or13a17

Ensembl Gene

ENSMUSG00000066122

Gene Name

olfactory receptor family 13 subfamily A member 17

Synonyms

IB6, Olfr45, MOR253-2, GA_x6K02T2PBJ9-42837030-42837962

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02388

Quality Score

Status

Chromosome

Chromosomal Location

140270797-140271832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140271024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 69 (T69A)

Ref Sequence

ENSEMBL: ENSMUSP00000149309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084454] [ENSMUST00000210241] [ENSMUST00000214637]

AlphaFold

Q8VGM1

Predicted Effect

probably benign
Transcript: ENSMUST00000084454
AA Change: T69A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000081492
Gene: ENSMUSG00000066122
AA Change: T69A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.8e-50	PFAM
Pfam:7TM_GPCR_Srsx	36	176	1.2e-7	PFAM
Pfam:7tm_1	42	291	3.7e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210241
AA Change: T69A

Predicted Effect

probably benign
Transcript: ENSMUST00000214637
AA Change: T69A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

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
4930597O21Rik	A	T	6: 66,873,097 (GRCm39)		probably benign	Het
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Asphd1	A	T	7: 126,545,884 (GRCm39)		probably benign	Het
Ccdc77	G	A	6: 120,308,858 (GRCm39)	A301V	probably benign	Het
Cep350	G	T	1: 155,829,499 (GRCm39)	T135K	probably benign	Het
Chrna7	A	T	7: 62,757,439 (GRCm39)	D153E	probably damaging	Het
Clec4b2	G	T	6: 123,179,187 (GRCm39)		probably null	Het
Cyp2c67	T	C	19: 39,631,799 (GRCm39)	N133D	probably benign	Het
Dglucy	T	C	12: 100,823,257 (GRCm39)	I484T	probably damaging	Het
Dtna	G	T	18: 23,730,571 (GRCm39)	M319I	probably benign	Het
E2f5	T	A	3: 14,653,340 (GRCm39)	M152K	probably benign	Het
Emsy	A	T	7: 98,290,873 (GRCm39)	M58K	probably damaging	Het
Epha1	A	G	6: 42,341,950 (GRCm39)	Y367H	probably damaging	Het
Etv1	A	G	12: 38,831,798 (GRCm39)	S32G	possibly damaging	Het
Fam114a1	A	T	5: 65,166,323 (GRCm39)		probably benign	Het
Fbxo30	T	A	10: 11,166,122 (GRCm39)	N281K	probably benign	Het
Galnt12	G	T	4: 47,117,941 (GRCm39)	R412L	probably damaging	Het
Gm5786	T	A	12: 59,128,382 (GRCm39)		noncoding transcript	Het
Gm9845	T	C	3: 39,412,616 (GRCm39)		noncoding transcript	Het
Hecw2	A	G	1: 53,964,858 (GRCm39)	V656A	probably benign	Het
Hpse2	A	T	19: 43,282,692 (GRCm39)	V187D	probably damaging	Het
Itsn2	T	A	12: 4,679,557 (GRCm39)	M122K	possibly damaging	Het
Kcnj11	A	G	7: 45,749,213 (GRCm39)	S37P	probably benign	Het
Kif13b	T	C	14: 65,037,807 (GRCm39)	I1491T	probably damaging	Het
Krt36	T	A	11: 99,995,990 (GRCm39)	K145*	probably null	Het
Loxhd1	A	G	18: 77,456,833 (GRCm39)	I499V	probably benign	Het
Map3k4	G	T	17: 12,490,497 (GRCm39)	N311K	probably damaging	Het
Mical2	C	A	7: 111,934,620 (GRCm39)	H880N	probably benign	Het
Myo1d	A	T	11: 80,528,823 (GRCm39)	C666*	probably null	Het
Nlrx1	C	T	9: 44,175,302 (GRCm39)	R158H	probably benign	Het
Or10ag53	T	A	2: 87,082,295 (GRCm39)	Y5N	probably benign	Het
Or10q1	C	A	19: 13,726,994 (GRCm39)	H175N	possibly damaging	Het
Or1e21	A	T	11: 73,344,106 (GRCm39)	L311I	probably benign	Het
Or4a78	T	C	2: 89,497,316 (GRCm39)	S305G	probably benign	Het
Pdgfrl	A	G	8: 41,430,094 (GRCm39)	R154G	probably benign	Het
Pitpnb	T	C	5: 111,478,699 (GRCm39)	F7S	possibly damaging	Het
Ppm1n	G	A	7: 19,013,097 (GRCm39)	R285C	probably damaging	Het
Prdm11	A	T	2: 92,805,957 (GRCm39)	I331N	possibly damaging	Het
Ptprb	C	T	10: 116,203,426 (GRCm39)	P2066L	probably damaging	Het
Ric8b	T	C	10: 84,828,135 (GRCm39)		probably benign	Het
Setx	A	G	2: 29,063,665 (GRCm39)	I2320M	probably damaging	Het
Skil	C	A	3: 31,165,787 (GRCm39)	S368*	probably null	Het
Slc1a5	G	T	7: 16,519,644 (GRCm39)		probably null	Het
Trpm7	A	C	2: 126,661,811 (GRCm39)	V1079G	possibly damaging	Het
Tulp1	A	G	17: 28,577,633 (GRCm39)	F2L	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Zbtb17	A	G	4: 141,189,224 (GRCm39)	Y48C	probably damaging	Het
Zfp605	T	A	5: 110,275,506 (GRCm39)	I208N	possibly damaging	Het

Other mutations in Or13a17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Or13a17	APN	7	140,271,349 (GRCm39)	missense	probably damaging	1.00
IGL01434:Or13a17	APN	7	140,271,531 (GRCm39)	missense	probably damaging	1.00
IGL01697:Or13a17	APN	7	140,271,565 (GRCm39)	missense	possibly damaging	0.61
IGL02167:Or13a17	APN	7	140,271,664 (GRCm39)	missense	probably damaging	0.98
IGL03054:Or13a17	UTSW	7	140,271,623 (GRCm39)	missense	probably benign	0.10
R0107:Or13a17	UTSW	7	140,271,258 (GRCm39)	missense	probably benign
R0403:Or13a17	UTSW	7	140,271,222 (GRCm39)	missense	possibly damaging	0.80
R1344:Or13a17	UTSW	7	140,271,712 (GRCm39)	missense	probably damaging	0.98
R1859:Or13a17	UTSW	7	140,271,571 (GRCm39)	missense	possibly damaging	0.80
R2871:Or13a17	UTSW	7	140,271,198 (GRCm39)	missense	possibly damaging	0.95
R2871:Or13a17	UTSW	7	140,271,198 (GRCm39)	missense	possibly damaging	0.95
R3611:Or13a17	UTSW	7	140,271,013 (GRCm39)	missense	probably benign	0.01
R3915:Or13a17	UTSW	7	140,270,888 (GRCm39)	missense	probably benign
R4551:Or13a17	UTSW	7	140,271,655 (GRCm39)	missense	probably damaging	1.00
R4552:Or13a17	UTSW	7	140,271,655 (GRCm39)	missense	probably damaging	1.00
R4627:Or13a17	UTSW	7	140,271,291 (GRCm39)	missense	probably benign	0.00
R4628:Or13a17	UTSW	7	140,271,291 (GRCm39)	missense	probably benign	0.00
R4629:Or13a17	UTSW	7	140,271,291 (GRCm39)	missense	probably benign	0.00
R4990:Or13a17	UTSW	7	140,271,360 (GRCm39)	missense	probably damaging	0.99
R5503:Or13a17	UTSW	7	140,271,309 (GRCm39)	missense	probably benign	0.01
R7861:Or13a17	UTSW	7	140,271,484 (GRCm39)	missense	probably damaging	1.00
R8077:Or13a17	UTSW	7	140,271,046 (GRCm39)	missense	probably benign	0.16
R8268:Or13a17	UTSW	7	140,271,430 (GRCm39)	missense	probably damaging	1.00
R8532:Or13a17	UTSW	7	140,271,712 (GRCm39)	missense	probably damaging	0.98
R8978:Or13a17	UTSW	7	140,271,642 (GRCm39)	missense	probably benign

Posted On

2015-04-16