Mutagenetix > Incidental Mutation

Incidental Mutation 'R6967:Or2r2'

542045

Institutional Source

Beutler Lab

Gene Symbol

Or2r2

Ensembl Gene

ENSMUSG00000090631

Gene Name

olfactory receptor family 2 subfamily R member 2

Synonyms

GA_x6K02T2P3E9-5073878-5074816, MOR257-7P, Olfr456

MMRRC Submission

045077-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R6967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42463097-42464148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42463947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 60 (F60S)

Ref Sequence

ENSEMBL: ENSMUSP00000060839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057251]

AlphaFold

B2RT27

Predicted Effect

probably damaging
Transcript: ENSMUST00000057251
AA Change: F60S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060839
Gene: ENSMUSG00000090631
AA Change: F60S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	5.7e-50	PFAM
Pfam:7tm_1	40	289	1.2e-22	PFAM

Meta Mutation Damage Score

0.2021

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (56/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	A	G	7: 103,708,212 (GRCm39)	I199T	probably benign	Het
Adam23	T	G	1: 63,602,495 (GRCm39)		probably null	Het
Adamts8	C	T	9: 30,865,787 (GRCm39)	T445I	probably benign	Het
Ahi1	T	C	10: 20,864,524 (GRCm39)	V752A	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Bicra	T	C	7: 15,706,130 (GRCm39)	E1437G	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,998 (GRCm39)	S131N	possibly damaging	Het
Ces1f	G	A	8: 93,994,625 (GRCm39)	P262L	probably benign	Het
Chrna2	A	T	14: 66,388,398 (GRCm39)		probably null	Het
Cspg4	G	A	9: 56,797,420 (GRCm39)	V1295M	possibly damaging	Het
D5Ertd579e	T	C	5: 36,773,100 (GRCm39)	T432A	probably benign	Het
Dach1	A	T	14: 98,140,633 (GRCm39)	S456R	probably damaging	Het
Dhx37	T	C	5: 125,499,231 (GRCm39)	D659G	probably benign	Het
Dscaml1	T	C	9: 45,585,821 (GRCm39)	V586A	probably damaging	Het
Efhb	G	T	17: 53,770,196 (GRCm39)	L38I	probably benign	Het
Fbxw10	T	C	11: 62,738,429 (GRCm39)	S108P	possibly damaging	Het
Fmnl2	A	G	2: 52,987,344 (GRCm39)	N313S	possibly damaging	Het
Gga3	T	C	11: 115,482,102 (GRCm39)	E172G	probably damaging	Het
Ggta1	A	G	2: 35,292,734 (GRCm39)	V191A	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hcn4	C	T	9: 58,731,228 (GRCm39)	T145M	unknown	Het
Kirrel3	T	C	9: 34,946,202 (GRCm39)	S654P	probably damaging	Het
Klrb1	A	T	6: 128,687,486 (GRCm39)		probably null	Het
Krt15	T	A	11: 100,025,339 (GRCm39)	D166V	probably damaging	Het
Lipk	T	A	19: 34,017,794 (GRCm39)	Y277*	probably null	Het
Ly6g	A	C	15: 75,030,398 (GRCm39)	N49T	possibly damaging	Het
Ms4a4c	A	T	19: 11,392,191 (GRCm39)	Q4L	probably benign	Het
Nfya	A	C	17: 48,699,932 (GRCm39)		probably benign	Het
Nub1	T	C	5: 24,913,709 (GRCm39)	V530A	probably benign	Het
Ocln	A	T	13: 100,675,796 (GRCm39)	Y232*	probably null	Het
Or10ag59	A	G	2: 87,405,857 (GRCm39)	N143S	possibly damaging	Het
Or4d2b	C	T	11: 87,780,324 (GRCm39)	V133I	probably benign	Het
Or5b114-ps1	A	G	19: 13,352,815 (GRCm39)	H163R	unknown	Het
Otogl	G	A	10: 107,649,911 (GRCm39)	A1148V	probably benign	Het
Paqr5	C	T	9: 61,880,113 (GRCm39)	W46*	probably null	Het
Psd2	C	A	18: 36,113,385 (GRCm39)	L286M	probably damaging	Het
Ptpn4	A	T	1: 119,612,311 (GRCm39)	Y27*	probably null	Het
Ripk2	A	G	4: 16,158,275 (GRCm39)		probably null	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sbk2	C	T	7: 4,967,146 (GRCm39)		probably null	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Sspo	A	C	6: 48,466,728 (GRCm39)	D4072A	probably benign	Het
St6galnac3	T	C	3: 152,912,345 (GRCm39)	Y214C	probably damaging	Het
Sugp1	T	A	8: 70,513,202 (GRCm39)	D256E	possibly damaging	Het
Sugt1	A	G	14: 79,834,847 (GRCm39)	Y90C	probably benign	Het
Taok2	A	G	7: 126,469,564 (GRCm39)	I1088T	probably damaging	Het
Tasor2	A	T	13: 3,624,819 (GRCm39)	D1710E	probably benign	Het
Tmc7	T	A	7: 118,146,901 (GRCm39)	T459S	probably benign	Het
Tmed11	T	C	5: 108,926,780 (GRCm39)	Y164C	probably damaging	Het
Tmem275	A	G	4: 115,755,491 (GRCm39)	T97A	unknown	Het
Tmem63b	T	C	17: 45,977,558 (GRCm39)	E356G	probably benign	Het
Ttc13	T	C	8: 125,415,357 (GRCm39)	I261V	probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn1r73	A	T	7: 11,490,544 (GRCm39)	K121*	probably null	Het
Zc3h12d	A	T	10: 7,715,644 (GRCm39)	S16C	probably damaging	Het
Zfp292	A	T	4: 34,807,812 (GRCm39)	M1744K	probably damaging	Het

Other mutations in Or2r2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02884:Or2r2	APN	6	42,463,540 (GRCm39)	missense	probably damaging	0.97
R0066:Or2r2	UTSW	6	42,463,869 (GRCm39)	missense	probably benign	0.00
R0566:Or2r2	UTSW	6	42,464,025 (GRCm39)	missense	probably damaging	1.00
R4801:Or2r2	UTSW	6	42,463,613 (GRCm39)	missense	probably benign	0.02
R4802:Or2r2	UTSW	6	42,463,613 (GRCm39)	missense	probably benign	0.02
R4867:Or2r2	UTSW	6	42,464,031 (GRCm39)	missense	probably benign	0.00
R6052:Or2r2	UTSW	6	42,463,588 (GRCm39)	missense	possibly damaging	0.94
R7250:Or2r2	UTSW	6	42,463,689 (GRCm39)	missense	probably benign	0.05
R8304:Or2r2	UTSW	6	42,463,672 (GRCm39)	missense	probably benign
R8940:Or2r2	UTSW	6	42,463,212 (GRCm39)	missense	probably benign
R8956:Or2r2	UTSW	6	42,463,830 (GRCm39)	missense	probably damaging	1.00
R9008:Or2r2	UTSW	6	42,463,903 (GRCm39)	missense	probably damaging	1.00
R9026:Or2r2	UTSW	6	42,463,795 (GRCm39)	missense	probably damaging	1.00
R9753:Or2r2	UTSW	6	42,463,507 (GRCm39)	missense	probably benign	0.05
Z1177:Or2r2	UTSW	6	42,463,766 (GRCm39)	missense	probably damaging	1.00
Z1177:Or2r2	UTSW	6	42,463,765 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- TGGATTACAGACAGCCACAGAG -3'
(R):5'- ACTGACCCAATTGCACCATGAG -3'

Sequencing Primer
(F):5'- CAGCCACAGAGCGGTCATAG -3'
(R):5'- TTGCACCATGAGAGAAAACATGAC -3'

Posted On

2018-11-28