Mutagenetix > Incidental Mutation

Incidental Mutation 'R8304:Or2r2'

639380

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

067791-MU

Accession Numbers

Essential gene?

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

Stock #

R8304 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42463097-42464148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42463672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 152 (V152I)

Ref Sequence

ENSEMBL: ENSMUSP00000060839 (fasta)

Gene Model

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

AlphaFold

B2RT27

Predicted Effect

probably benign
Transcript: ENSMUST00000057251
AA Change: V152I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060839
Gene: ENSMUSG00000090631
AA Change: V152I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (58/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 109,997,954 (GRCm39)		probably null	Het
Akap11	T	C	14: 78,750,672 (GRCm39)	T572A		Het
Amigo2	A	T	15: 97,144,038 (GRCm39)	L128Q	probably damaging	Het
Ankrd12	A	G	17: 66,291,542 (GRCm39)	I1297T	possibly damaging	Het
Arhgap32	T	A	9: 32,167,233 (GRCm39)	C623*	probably null	Het
Armc2	T	C	10: 41,823,935 (GRCm39)	Y511C	probably damaging	Het
Asb15	C	T	6: 24,559,296 (GRCm39)	P147L	possibly damaging	Het
Caprin1	G	T	2: 103,599,862 (GRCm39)	N604K	probably damaging	Het
Ccnl2	T	C	4: 155,897,679 (GRCm39)	F113L	probably benign	Het
Cltc	C	T	11: 86,616,087 (GRCm39)	R393H	probably benign	Het
Cul4a	G	A	8: 13,177,727 (GRCm39)	C289Y	possibly damaging	Het
Cyp4a29	T	A	4: 115,111,653 (GRCm39)	F477I	probably damaging	Het
Dapk2	C	T	9: 66,139,027 (GRCm39)	A116V	possibly damaging	Het
Ddx60	T	C	8: 62,451,803 (GRCm39)	I1231T	possibly damaging	Het
Eif5b	A	G	1: 38,084,774 (GRCm39)	I874V	probably benign	Het
Eral1	A	T	11: 77,966,828 (GRCm39)	S196T	probably damaging	Het
Erc2	T	G	14: 27,375,122 (GRCm39)	D113E	probably damaging	Het
Frmpd2	A	G	14: 33,274,066 (GRCm39)	I1103V	possibly damaging	Het
Galm	A	G	17: 80,490,766 (GRCm39)	T308A	probably damaging	Het
Helz2	A	T	2: 180,871,950 (GRCm39)	N2650K	probably benign	Het
Herc2	A	G	7: 55,809,186 (GRCm39)	D2562G	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Hspbap1	T	A	16: 35,607,695 (GRCm39)	L67*	probably null	Het
Irx3	T	A	8: 92,526,834 (GRCm39)	D290V	probably damaging	Het
Kcns1	A	T	2: 164,010,022 (GRCm39)	Y246N	probably damaging	Het
Kidins220	A	G	12: 25,107,127 (GRCm39)	T1557A	probably benign	Het
Lrriq1	T	C	10: 103,069,929 (GRCm39)	N29S	possibly damaging	Het
Mmp24	T	C	2: 155,641,759 (GRCm39)	F196L	possibly damaging	Het
Mroh2b	T	C	15: 4,955,119 (GRCm39)	V704A	probably damaging	Het
Mst1	A	G	9: 107,958,803 (GRCm39)	M112V	probably benign	Het
Myh8	C	A	11: 67,195,162 (GRCm39)	H1659N	possibly damaging	Het
Nlgn1	C	T	3: 26,187,534 (GRCm39)	C117Y	probably damaging	Het
Opa1	C	T	16: 29,416,489 (GRCm39)	T237M	possibly damaging	Het
Or51f5	A	G	7: 102,423,917 (GRCm39)	Y62C	possibly damaging	Het
Or5v1	A	T	17: 37,810,261 (GRCm39)	T240S	probably damaging	Het
Or8b57	A	T	9: 40,003,650 (GRCm39)	I204N	probably damaging	Het
P3h1	C	T	4: 119,104,402 (GRCm39)	T641M	probably damaging	Het
Pak5	T	C	2: 135,940,203 (GRCm39)	H537R	probably benign	Het
Ppp1r12b	A	T	1: 134,824,101 (GRCm39)	L174Q	possibly damaging	Het
Prkg1	A	G	19: 30,701,584 (GRCm39)	V326A	possibly damaging	Het
Psmb3	T	A	11: 97,601,995 (GRCm39)	C122S	probably benign	Het
Sh3bgrl3	C	A	4: 133,855,312 (GRCm39)	A45S	probably benign	Het
Slc25a47	T	C	12: 108,821,868 (GRCm39)	V219A	possibly damaging	Het
Slfn9	A	C	11: 82,873,605 (GRCm39)	S433A	probably benign	Het
Spata13	A	T	14: 60,993,957 (GRCm39)	R1136S	possibly damaging	Het
Stab1	C	A	14: 30,870,911 (GRCm39)	A1313S	probably benign	Het
Stim1	G	A	7: 102,084,688 (GRCm39)	A547T	possibly damaging	Het
Taf5l	A	T	8: 124,730,251 (GRCm39)	I146N	probably benign	Het
Tbc1d12	A	T	19: 38,825,824 (GRCm39)	E225V	possibly damaging	Het
Tesc	T	C	5: 118,194,495 (GRCm39)	Y135H	probably benign	Het
Tfg	T	C	16: 56,521,581 (GRCm39)	E145G	possibly damaging	Het
Tg	T	A	15: 66,565,109 (GRCm39)	C1150*	probably null	Het
Tmtc1	T	C	6: 148,172,883 (GRCm39)	N616S	probably damaging	Het
Trpm7	A	T	2: 126,639,797 (GRCm39)	W1600R	probably damaging	Het
Ttc17	A	T	2: 94,199,526 (GRCm39)		probably benign	Het
Zfand1	A	T	3: 10,413,615 (GRCm39)	L24*	probably null	Het
Zfp282	AGCGGCGGCGGCGGCGGC	AGCGGCGGCGGCGGC	6: 47,881,722 (GRCm39)		probably benign	Het
Zfp770	A	C	2: 114,027,891 (GRCm39)	F59L	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
R6967:Or2r2	UTSW	6	42,463,947 (GRCm39)	missense	probably damaging	0.99
R7250:Or2r2	UTSW	6	42,463,689 (GRCm39)	missense	probably benign	0.05
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'- ACCAGAGAGCAGGGTATCATC -3'
(R):5'- AGATGCTGGCACACTTCCTC -3'

Sequencing Primer
(F):5'- GAGCAGGGTATCATCAGCACC -3'
(R):5'- TGGCACACTTCCTCATGGAG -3'

Posted On

2020-07-28