Mutagenetix > Incidental Mutation

Incidental Mutation 'R0962:Or2d36'

81264

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

039091-MU

Accession Numbers

Essential gene?

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

Stock #

R0962 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106746505-106747536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106747294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 257 (F257Y)

Ref Sequence

ENSEMBL: ENSMUSP00000150175 (fasta)

Gene Model

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

AlphaFold

Q9EPG6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098137
AA Change: F257Y

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095740
Gene: ENSMUSG00000073896
AA Change: F257Y

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

possibly damaging
Transcript: ENSMUST00000213367
AA Change: F257Y

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214819
AA Change: F257Y

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215284
AA Change: F257Y

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216871
AA Change: F257Y

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.0877

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.9%
20x: 96.0%

Validation Efficiency

100% (56/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	A	11: 84,202,129 (GRCm39)	A196T	probably damaging	Het
Adamtsl4	T	A	3: 95,591,798 (GRCm39)	R97*	probably null	Het
Adgrv1	T	C	13: 81,553,465 (GRCm39)	I5470V	probably benign	Het
Afg3l2	T	C	18: 67,538,497 (GRCm39)	T754A	possibly damaging	Het
Agfg1	T	C	1: 82,864,117 (GRCm39)	F395S	probably damaging	Het
Ahnak	A	G	19: 8,990,212 (GRCm39)		probably benign	Het
Alkbh2	T	C	5: 114,262,014 (GRCm39)	K239E	possibly damaging	Het
Ankmy1	A	T	1: 92,827,290 (GRCm39)	C87*	probably null	Het
Apob	A	G	12: 8,039,191 (GRCm39)	I461V	probably damaging	Het
Arap1	C	T	7: 101,034,121 (GRCm39)	P188S	possibly damaging	Het
Atp12a	G	A	14: 56,605,870 (GRCm39)	E64K	probably damaging	Het
Brca1	A	T	11: 101,416,192 (GRCm39)	H647Q	possibly damaging	Het
Cachd1	A	G	4: 100,840,498 (GRCm39)		probably benign	Het
Cep57	A	T	9: 13,720,039 (GRCm39)	V429D	possibly damaging	Het
Cfap299	T	C	5: 98,714,420 (GRCm39)		probably benign	Het
Dip2a	T	C	10: 76,128,266 (GRCm39)		probably benign	Het
Dmxl2	A	T	9: 54,353,696 (GRCm39)	N757K	probably damaging	Het
Dock7	G	A	4: 98,833,432 (GRCm39)	T1953I	possibly damaging	Het
Ebf3	T	C	7: 136,826,932 (GRCm39)	T111A	probably damaging	Het
Ercc4	T	C	16: 12,948,010 (GRCm39)	I319T	probably damaging	Het
Fat1	T	C	8: 45,486,363 (GRCm39)		probably benign	Het
Gucy2g	C	T	19: 55,198,716 (GRCm39)	W809*	probably null	Het
Hhipl1	A	G	12: 108,293,980 (GRCm39)	K629E	probably benign	Het
Hmbox1	A	T	14: 65,134,223 (GRCm39)	S126T	probably benign	Het
Htr1a	A	G	13: 105,580,832 (GRCm39)	N24S	probably benign	Het
Htra3	T	A	5: 35,825,700 (GRCm39)	I185F	probably damaging	Het
Impg1	C	T	9: 80,289,023 (GRCm39)	D345N	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kdm7a	A	G	6: 39,124,128 (GRCm39)	V720A	probably benign	Het
Kirrel3	A	G	9: 34,912,293 (GRCm39)	D212G	possibly damaging	Het
Lgals3bp	A	T	11: 118,283,846 (GRCm39)	*139K	probably null	Het
Lrp11	T	A	10: 7,466,060 (GRCm39)	V82D	probably benign	Het
Mcf2l	T	C	8: 13,051,964 (GRCm39)	Y425H	probably benign	Het
Mfn2	T	C	4: 147,966,658 (GRCm39)	N511S	probably benign	Het
Mical2	T	C	7: 111,979,624 (GRCm39)	S108P	probably damaging	Het
Ms4a6c	C	T	19: 11,448,506 (GRCm39)	T13M	probably benign	Het
Naip2	C	A	13: 100,315,893 (GRCm39)	V296F	probably damaging	Het
Or51a5	A	G	7: 102,771,217 (GRCm39)	V254A	possibly damaging	Het
Or7e175	T	A	9: 20,048,834 (GRCm39)	C141S	probably damaging	Het
P3h2	T	C	16: 25,815,998 (GRCm39)	M172V	probably benign	Het
Pcolce2	T	G	9: 95,552,087 (GRCm39)	N73K	probably benign	Het
Pla2g4d	A	G	2: 120,111,098 (GRCm39)		probably null	Het
Ppfia3	A	G	7: 44,997,146 (GRCm39)		probably benign	Het
Ptprcap	A	G	19: 4,206,463 (GRCm39)	D182G	possibly damaging	Het
Rabgap1	T	C	2: 37,450,481 (GRCm39)		probably benign	Het
Rpain	G	A	11: 70,865,867 (GRCm39)		probably null	Het
Sdk1	C	T	5: 142,147,630 (GRCm39)	T1754I	probably damaging	Het
Stag1	T	A	9: 100,678,880 (GRCm39)	L267Q	probably damaging	Het
Tex9	T	C	9: 72,391,374 (GRCm39)	T92A	probably benign	Het
Trpa1	T	A	1: 14,968,387 (GRCm39)	I460F	possibly damaging	Het
Ttn	A	T	2: 76,780,500 (GRCm39)	Y1084N	probably damaging	Het
Utp6	A	G	11: 79,832,694 (GRCm39)		probably benign	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	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
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
R0071:Or2d36	UTSW	7	106,746,919 (GRCm39)	missense	probably damaging	1.00
R0391:Or2d36	UTSW	7	106,747,394 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- TGGCTTCAGCAGATACTTACAGCAC -3'
(R):5'- GCCAGCAGCTTTGGCTATGCTTATG -3'

Sequencing Primer
(F):5'- GATACTTACAGCACAGAAATGGC -3'
(R):5'- TGAAATGCCTCGGAAAAATCCTG -3'

Posted On

2013-11-07