Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03300:Or2d36'

416199

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2d36

Ensembl Gene

ENSMUSG00000073896

Gene Name

olfactory receptor family 2 subfamily D member 36

Synonyms

MOR260-2, Olfr716, GA_x6K02T2PBJ9-9497411-9498355

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

IGL03300

Quality Score

Status

Chromosome

Chromosomal Location

106746505-106747536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106746616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 31 (F31S)

Ref Sequence

ENSEMBL: ENSMUSP00000147429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098137] [ENSMUST00000209942] [ENSMUST00000210474] [ENSMUST00000213367] [ENSMUST00000214819] [ENSMUST00000215284] [ENSMUST00000216871]

AlphaFold

Q9EPG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000098137
AA Change: F31S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095740
Gene: ENSMUSG00000073896
AA Change: F31S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.4e-57	PFAM
Pfam:7tm_1	41	290	3.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209942

Predicted Effect

probably damaging
Transcript: ENSMUST00000210474
AA Change: F31S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213367
AA Change: F31S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214819
AA Change: F31S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215284
AA Change: F31S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216871
AA Change: F31S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Lpar5	T	C	6: 125,059,203 (GRCm39)	L308P	probably damaging	Het
Mcm9	A	G	10: 53,487,523 (GRCm39)	S515P	probably damaging	Het
Or4c10	T	A	2: 89,760,571 (GRCm39)	C139*	probably null	Het
Pclo	A	G	5: 14,762,812 (GRCm39)	M3762V	unknown	Het
Pgr	G	A	9: 8,961,540 (GRCm39)	D871N	probably damaging	Het
Ppfibp1	A	G	6: 146,931,825 (GRCm39)	E957G	probably damaging	Het
Pus10	T	C	11: 23,681,368 (GRCm39)		probably benign	Het
Slco1a8	A	G	6: 141,940,532 (GRCm39)	F110L	probably damaging	Het

Other mutations in Or2d36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01781:Or2d36	APN	7	106,746,903 (GRCm39)	missense	probably damaging	1.00
IGL02792:Or2d36	APN	7	106,747,425 (GRCm39)	missense	probably benign	0.00
R0071:Or2d36	UTSW	7	106,746,919 (GRCm39)	missense	probably damaging	1.00
R0071:Or2d36	UTSW	7	106,746,919 (GRCm39)	missense	probably damaging	1.00
R0391:Or2d36	UTSW	7	106,747,394 (GRCm39)	nonsense	probably null
R0962:Or2d36	UTSW	7	106,747,294 (GRCm39)	missense	possibly damaging	0.94
R1440:Or2d36	UTSW	7	106,747,405 (GRCm39)	missense	probably damaging	1.00
R5561:Or2d36	UTSW	7	106,747,297 (GRCm39)	missense	probably benign	0.05
R5700:Or2d36	UTSW	7	106,746,748 (GRCm39)	missense	probably benign
R5997:Or2d36	UTSW	7	106,746,535 (GRCm39)	missense	possibly damaging	0.79
R6262:Or2d36	UTSW	7	106,746,918 (GRCm39)	missense	probably damaging	1.00
R6922:Or2d36	UTSW	7	106,747,290 (GRCm39)	missense	probably damaging	0.98
R7076:Or2d36	UTSW	7	106,747,236 (GRCm39)	missense	probably damaging	1.00
R8025:Or2d36	UTSW	7	106,746,930 (GRCm39)	missense	possibly damaging	0.87
R9256:Or2d36	UTSW	7	106,747,387 (GRCm39)	missense	probably damaging	0.99
R9746:Or2d36	UTSW	7	106,746,660 (GRCm39)	missense	probably benign	0.14
Z1088:Or2d36	UTSW	7	106,747,419 (GRCm39)	missense	probably benign
Z1176:Or2d36	UTSW	7	106,747,362 (GRCm39)	missense	probably benign	0.12

Posted On

2016-08-02