Mutagenetix > Incidental Mutation

Incidental Mutation 'R0071:Or2d36'

16996

Institutional Source

Beutler Lab

Gene Symbol

Or2d36

Ensembl Gene

ENSMUSG00000073896

Gene Name

olfactory receptor family 2 subfamily D member 36

Synonyms

MOR260-2, Olfr716, GA_x6K02T2PBJ9-9497411-9498355

MMRRC Submission

038362-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R0071 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

106746505-106747536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106746919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 132 (Y132C)

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 damaging
Transcript: ENSMUST00000098137
AA Change: Y132C

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

SMART Domains

Protein: ENSMUSP00000095740
Gene: ENSMUSG00000073896
AA Change: Y132C

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: Y132C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213367
AA Change: Y132C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214819
AA Change: Y132C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215284
AA Change: Y132C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216871
AA Change: Y132C

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

Meta Mutation Damage Score

0.8716

Coding Region Coverage

1x: 88.2%
3x: 84.4%
10x: 70.8%
20x: 43.5%

Validation Efficiency

93% (94/101)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,027,915 (GRCm39)		probably benign	Het
Amotl1	G	A	9: 14,460,069 (GRCm39)	A890V	probably benign	Het
Aox3	T	A	1: 58,211,050 (GRCm39)	C931*	probably null	Het
Apob	T	A	12: 8,052,111 (GRCm39)	V1184E	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Bccip	A	G	7: 133,315,960 (GRCm39)	D72G	probably damaging	Het
Bckdha	A	T	7: 25,329,868 (GRCm39)		probably null	Het
Bmerb1	A	G	16: 13,906,818 (GRCm39)	D11G	probably damaging	Het
Cald1	C	T	6: 34,735,069 (GRCm39)		probably benign	Het
Cdk11b	T	C	4: 155,733,880 (GRCm39)		probably benign	Het
Cebpe	G	T	14: 54,948,061 (GRCm39)	R261S	probably damaging	Het
Cep95	C	T	11: 106,681,554 (GRCm39)		probably benign	Het
Chi3l1	T	C	1: 134,113,017 (GRCm39)	Y150H	probably benign	Het
Chrnd	T	C	1: 87,120,559 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,275,407 (GRCm39)		probably benign	Het
Coro7	A	T	16: 4,488,391 (GRCm39)	L93Q	probably damaging	Het
Csmd3	T	C	15: 47,460,217 (GRCm39)	T3525A	probably benign	Het
Fam227b	T	A	2: 125,965,994 (GRCm39)	N144Y	probably benign	Het
Fhod1	A	T	8: 106,063,857 (GRCm39)		probably null	Het
Folr1	A	G	7: 101,513,130 (GRCm39)		probably null	Het
Glis3	C	T	19: 28,241,255 (GRCm39)		probably benign	Het
Golgb1	G	A	16: 36,735,865 (GRCm39)	R1704Q	probably benign	Het
Helz2	T	C	2: 180,878,200 (GRCm39)	Y866C	probably damaging	Het
Kcnma1	C	T	14: 23,576,835 (GRCm39)	R236H	probably damaging	Het
Lct	C	T	1: 128,219,755 (GRCm39)	W1631*	probably null	Het
Limk1	G	T	5: 134,690,245 (GRCm39)	Q104K	probably benign	Het
Ly75	T	C	2: 60,152,163 (GRCm39)	K1130R	probably benign	Het
Mdm1	A	G	10: 117,982,701 (GRCm39)	E112G	probably damaging	Het
Myo7a	A	T	7: 97,706,037 (GRCm39)	Y1836N	probably damaging	Het
Nsun7	A	G	5: 66,421,388 (GRCm39)	Y118C	probably benign	Het
Or13a20	A	T	7: 140,232,170 (GRCm39)	I93F	probably benign	Het
Osbpl11	T	C	16: 33,034,708 (GRCm39)		probably benign	Het
Pik3cb	A	T	9: 98,926,918 (GRCm39)	D886E	probably benign	Het
Pkhd1	T	A	1: 20,271,568 (GRCm39)	Y2995F	probably benign	Het
Raver2	C	T	4: 100,977,642 (GRCm39)		probably benign	Het
Sec22c	A	G	9: 121,521,979 (GRCm39)	F44L	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Shoc1	A	G	4: 59,059,643 (GRCm39)	Y1006H	possibly damaging	Het
Sobp	A	G	10: 43,033,993 (GRCm39)	L111P	probably damaging	Het
Sparcl1	G	T	5: 104,233,707 (GRCm39)	Y547*	probably null	Het
Spata31d1b	G	A	13: 59,863,163 (GRCm39)	A104T	probably benign	Het
Spsb3	A	G	17: 25,106,878 (GRCm39)	D184G	probably damaging	Het
Sptan1	A	T	2: 29,893,354 (GRCm39)	K1148*	probably null	Het
Tdrd12	A	G	7: 35,228,671 (GRCm39)	V17A	possibly damaging	Het
Tlr9	A	G	9: 106,100,777 (GRCm39)	T23A	probably benign	Het
Tra2b	A	T	16: 22,073,151 (GRCm39)		probably benign	Het
Tspan15	A	G	10: 62,038,849 (GRCm39)		probably benign	Het
Ttc41	A	G	10: 86,572,710 (GRCm39)	N694S	probably benign	Het
Ube3b	G	A	5: 114,557,558 (GRCm39)	G1014D	probably damaging	Het
Unc5d	A	G	8: 29,209,854 (GRCm39)	V422A	possibly damaging	Het
Vmn2r80	C	T	10: 79,007,566 (GRCm39)	T514I	possibly 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
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
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

2013-01-20