Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02792:Or2d36'

359804

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 #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

106746505-106747536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106747425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 301 (F301L)

Ref Sequence

ENSEMBL: ENSMUSP00000150175 (fasta)

Gene Model

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

AlphaFold

Q9EPG6

Predicted Effect

probably benign
Transcript: ENSMUST00000098137
AA Change: F301L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095740
Gene: ENSMUSG00000073896
AA Change: F301L

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 benign
Transcript: ENSMUST00000210474

Predicted Effect

probably benign
Transcript: ENSMUST00000213367
AA Change: F301L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000214819
AA Change: F301L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000215284
AA Change: F301L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216871
AA Change: F301L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,401,107 (GRCm39)	V131M	probably benign	Het
Abca6	A	T	11: 110,079,507 (GRCm39)	C1216S	probably damaging	Het
Acly	T	C	11: 100,369,236 (GRCm39)	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,282,163 (GRCm39)		probably null	Het
Adgrb1	C	A	15: 74,419,471 (GRCm39)	L771I	probably damaging	Het
Adh7	A	T	3: 137,929,498 (GRCm39)	K89I	probably damaging	Het
Adora2b	A	T	11: 62,156,309 (GRCm39)	I253F	possibly damaging	Het
Akna	G	A	4: 63,295,943 (GRCm39)	P975S	possibly damaging	Het
Alg9	T	C	9: 50,754,048 (GRCm39)	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,761,218 (GRCm39)	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,563,058 (GRCm39)	S908T	probably benign	Het
Atp1a4	C	T	1: 172,054,866 (GRCm39)		probably null	Het
Cabin1	T	C	10: 75,582,573 (GRCm39)	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,265,995 (GRCm39)	F1312L	probably benign	Het
Cfap65	A	C	1: 74,966,337 (GRCm39)	F330C	probably damaging	Het
Col27a1	C	T	4: 63,233,820 (GRCm39)	P689S	unknown	Het
Col4a3	A	T	1: 82,696,524 (GRCm39)	K1643N	probably damaging	Het
Dop1b	T	A	16: 93,598,460 (GRCm39)	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,761,082 (GRCm39)		probably benign	Het
Ergic3	C	A	2: 155,859,770 (GRCm39)	T357K	probably damaging	Het
Glra1	A	T	11: 55,427,226 (GRCm39)	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,001,018 (GRCm39)	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,236,602 (GRCm39)	S382P	probably damaging	Het
Kat6a	G	A	8: 23,428,316 (GRCm39)	E1224K	probably damaging	Het
Klk13	A	G	7: 43,370,838 (GRCm39)	E29G	possibly damaging	Het
Klra9	T	C	6: 130,165,643 (GRCm39)	D124G	probably benign	Het
Lrmda	T	C	14: 22,069,978 (GRCm39)		probably null	Het
Ltbp1	G	A	17: 75,589,989 (GRCm39)	V539M	probably damaging	Het
Ngfr	A	C	11: 95,462,687 (GRCm39)	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,502,348 (GRCm39)	H151Q	probably damaging	Het
Nnt	A	G	13: 119,494,182 (GRCm39)	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,686,535 (GRCm39)	V158M	probably damaging	Het
Or11i1	T	C	3: 106,729,456 (GRCm39)	T140A	probably damaging	Het
Or7g16	C	T	9: 18,727,254 (GRCm39)	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,133,850 (GRCm39)	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,172,393 (GRCm39)	I207F	possibly damaging	Het
Polr2a	A	G	11: 69,636,938 (GRCm39)	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,722 (GRCm39)	V73A	probably damaging	Het
Relb	A	T	7: 19,347,789 (GRCm39)	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,383,018 (GRCm39)	L382*	probably null	Het
Setd1a	C	T	7: 127,390,522 (GRCm39)	S523F	unknown	Het
Slamf8	A	G	1: 172,415,697 (GRCm39)	I47T	probably damaging	Het
Slc16a4	G	A	3: 107,206,193 (GRCm39)	A88T	probably benign	Het
Sox6	C	T	7: 115,140,884 (GRCm39)	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,512,165 (GRCm39)	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,935,918 (GRCm39)	D1710A	probably benign	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Vangl1	A	T	3: 102,070,739 (GRCm39)	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,659,014 (GRCm39)	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,414,228 (GRCm39)	M1V	probably null	Het
Wdfy4	T	C	14: 32,817,262 (GRCm39)	I1561V	probably benign	Het
Xkr9	A	G	1: 13,771,027 (GRCm39)	D181G	probably damaging	Het
Zfp318	T	C	17: 46,720,104 (GRCm39)	F1101L	probably damaging	Het
Zfpm2	C	A	15: 40,966,409 (GRCm39)	Q833K	probably benign	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
IGL03300:Or2d36	APN	7	106,746,616 (GRCm39)	missense	probably damaging	1.00
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

2015-12-18