Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01697:Or13a17'

104297

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 #

IGL01697

Quality Score

Status

Chromosome

Chromosomal Location

140270797-140271832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140271565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 249 (V249A)

Ref Sequence

ENSEMBL: ENSMUSP00000149309 (fasta)

Gene Model

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

AlphaFold

Q8VGM1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084454
AA Change: V249A

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000081492
Gene: ENSMUSG00000066122
AA Change: V249A

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: V249A

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214637
AA Change: V249A

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,203,613 (GRCm39)		probably benign	Het
Arid2	A	C	15: 96,259,453 (GRCm39)		probably null	Het
Cadm1	C	A	9: 47,761,622 (GRCm39)	D435E	probably damaging	Het
Dagla	A	G	19: 10,248,562 (GRCm39)	F33L	probably benign	Het
Edrf1	A	G	7: 133,245,459 (GRCm39)	H199R	probably benign	Het
F5	T	A	1: 164,021,621 (GRCm39)	N1365K	probably benign	Het
Gipc2	T	G	3: 151,843,245 (GRCm39)	I131L	probably benign	Het
Gpc1	C	T	1: 92,786,132 (GRCm39)	S507F	possibly damaging	Het
Grid1	A	G	14: 35,031,214 (GRCm39)	D269G	probably benign	Het
Ighv12-3	A	T	12: 114,330,573 (GRCm39)	M1K	probably null	Het
Kif5b	T	C	18: 6,226,871 (GRCm39)	H129R	possibly damaging	Het
Lipo3	A	T	19: 33,536,965 (GRCm39)	C252S	probably damaging	Het
Mast4	A	C	13: 102,904,401 (GRCm39)	N645K	probably damaging	Het
Megf9	T	A	4: 70,351,709 (GRCm39)	T471S	possibly damaging	Het
Mmrn1	A	G	6: 60,953,477 (GRCm39)	D586G	possibly damaging	Het
Ninl	A	T	2: 150,781,867 (GRCm39)	L1206Q	probably damaging	Het
Oog2	T	A	4: 143,921,754 (GRCm39)	N221K	possibly damaging	Het
Or5b96	T	A	19: 12,867,831 (GRCm39)	T37S	probably benign	Het
Or6c8b	C	A	10: 128,882,371 (GRCm39)	C187F	probably damaging	Het
Pik3ap1	G	A	19: 41,313,018 (GRCm39)	A365V	probably damaging	Het
Ppwd1	T	C	13: 104,356,972 (GRCm39)	E181G	probably benign	Het
Scaf11	A	C	15: 96,321,504 (GRCm39)		probably benign	Het
Skic3	C	T	13: 76,276,852 (GRCm39)	L479F	probably benign	Het
Skint7	T	A	4: 111,837,654 (GRCm39)		probably benign	Het
Sox14	T	C	9: 99,757,716 (GRCm39)	I8V	probably benign	Het
Spata31f3	T	A	4: 42,874,163 (GRCm39)	M2L	probably benign	Het
Stim1	A	T	7: 102,075,176 (GRCm39)		probably benign	Het
Ttll3	T	C	6: 113,376,690 (GRCm39)	S357P	probably benign	Het
Vmn1r178	T	A	7: 23,593,114 (GRCm39)	I54N	probably damaging	Het
Zdhhc2	T	C	8: 40,920,460 (GRCm39)		probably benign	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
IGL02167:Or13a17	APN	7	140,271,664 (GRCm39)	missense	probably damaging	0.98
IGL02388:Or13a17	APN	7	140,271,024 (GRCm39)	missense	probably benign	0.00
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

2014-01-21