Mutagenetix > Incidental Mutation

Incidental Mutation 'R6381:Or2h2'

515343

Institutional Source

Beutler Lab

Gene Symbol

Or2h2

Ensembl Gene

ENSMUSG00000056600

Gene Name

olfactory receptor family 2 subfamily H member 2

Synonyms

Olfr90, GA_x6K02T2PSCP-1526227-1525295, MOR256-21

MMRRC Submission

044530-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R6381 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37396083-37397128 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37396977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 27 (V27I)

Ref Sequence

ENSEMBL: ENSMUSP00000150119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070808] [ENSMUST00000207101] [ENSMUST00000215195] [ENSMUST00000216376] [ENSMUST00000216488] [ENSMUST00000217372] [ENSMUST00000217397]

AlphaFold

Q0VEL5

Predicted Effect

probably benign
Transcript: ENSMUST00000070808
AA Change: V27I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000065322
Gene: ENSMUSG00000056600
AA Change: V27I

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srbc	21	157	9e-8	PFAM
Pfam:7tm_4	29	306	5.3e-52	PFAM
Pfam:7tm_1	39	288	6.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207101
AA Change: V27I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000215195
AA Change: V27I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215502

Predicted Effect

probably benign
Transcript: ENSMUST00000216376

Predicted Effect

probably benign
Transcript: ENSMUST00000216488
AA Change: V27I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000217372

Predicted Effect

probably benign
Transcript: ENSMUST00000217397
AA Change: V27I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,788 (GRCm39)	M365L	probably damaging	Het
Aars2	A	G	17: 45,829,471 (GRCm39)	E786G	probably benign	Het
Adamts12	G	T	15: 11,257,080 (GRCm39)	V478F	possibly damaging	Het
Akr1c21	T	A	13: 4,624,183 (GRCm39)	D12E	probably damaging	Het
Aplf	A	T	6: 87,635,959 (GRCm39)	M118K	probably damaging	Het
Apobec1	A	G	6: 122,555,890 (GRCm39)	L189P	probably damaging	Het
BC061237	A	G	14: 44,741,713 (GRCm39)	Q152R	possibly damaging	Het
Bche	A	G	3: 73,609,132 (GRCm39)	I98T	probably benign	Het
Cc2d2a	G	T	5: 43,873,118 (GRCm39)	R983L	possibly damaging	Het
Ccnd3	T	C	17: 47,816,149 (GRCm39)		probably benign	Het
Cd74	G	T	18: 60,944,435 (GRCm39)	C215F	probably damaging	Het
Cep97	C	T	16: 55,742,534 (GRCm39)	A138T	probably damaging	Het
Ces1e	T	A	8: 93,944,206 (GRCm39)	N204I	probably damaging	Het
Dicer1	T	C	12: 104,662,721 (GRCm39)	D1620G	probably benign	Het
Dnah17	A	G	11: 118,020,011 (GRCm39)	V12A	probably benign	Het
Dstyk	T	A	1: 132,384,503 (GRCm39)		probably null	Het
Elapor1	T	C	3: 108,389,130 (GRCm39)	K222E	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Entr1	A	G	2: 26,275,093 (GRCm39)		probably null	Het
Gm10570	G	T	4: 130,202,021 (GRCm39)		probably benign	Het
Gm7145	C	T	1: 117,913,669 (GRCm39)	Q184*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gtse1	G	A	15: 85,746,349 (GRCm39)	R55H	probably benign	Het
Hdac4	G	T	1: 91,912,247 (GRCm39)	Q381K	possibly damaging	Het
Ifit3b	T	C	19: 34,589,871 (GRCm39)	I349T	probably benign	Het
Inpp5a	A	T	7: 138,980,589 (GRCm39)	D9V	probably benign	Het
Irs1	T	C	1: 82,265,405 (GRCm39)	N937S	possibly damaging	Het
Kcna4	T	C	2: 107,125,317 (GRCm39)	M17T	probably benign	Het
Lipa	T	A	19: 34,502,146 (GRCm39)	M33L	probably benign	Het
Marchf6	G	T	15: 31,467,838 (GRCm39)	Q790K	probably benign	Het
Mccc1	G	A	3: 36,030,876 (GRCm39)	P397S	probably benign	Het
Mrgprb2	T	C	7: 48,202,138 (GRCm39)	I196V	probably benign	Het
Myh15	T	A	16: 48,921,844 (GRCm39)	S463R	probably damaging	Het
Nab2	T	C	10: 127,500,220 (GRCm39)	K291E	probably damaging	Het
Neto2	T	C	8: 86,369,138 (GRCm39)	T294A	probably damaging	Het
Nkx1-1	T	C	5: 33,591,320 (GRCm39)	M1V	probably null	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Psmd2	A	G	16: 20,474,023 (GRCm39)	E242G	probably benign	Het
Rnase12	A	C	14: 51,294,551 (GRCm39)	Y43D	probably damaging	Het
Rpl18	T	A	7: 45,369,016 (GRCm39)	F58I	probably damaging	Het
Ryr1	T	G	7: 28,774,682 (GRCm39)	M2313L	possibly damaging	Het
Scn4a	G	T	11: 106,211,137 (GRCm39)	Q1627K	probably damaging	Het
Scnn1g	A	G	7: 121,366,722 (GRCm39)	S640G	probably benign	Het
Sdr9c7	T	A	10: 127,739,542 (GRCm39)	M219K	probably benign	Het
Soat1	A	T	1: 156,263,373 (GRCm39)	M392K	probably damaging	Het
Spata18	G	T	5: 73,832,559 (GRCm39)	K337N	probably damaging	Het
Supt16	A	G	14: 52,417,003 (GRCm39)	V325A	probably benign	Het
Syt2	A	G	1: 134,674,588 (GRCm39)	E342G	probably damaging	Het
Tars2	A	T	3: 95,661,799 (GRCm39)	L37*	probably null	Het
Tep1	T	C	14: 51,082,888 (GRCm39)	D1040G	probably damaging	Het
Tmc8	A	T	11: 117,682,426 (GRCm39)	S613C	probably null	Het
Top3a	C	T	11: 60,634,849 (GRCm39)	C660Y	probably damaging	Het
Tpsg1	C	T	17: 25,591,543 (GRCm39)	R48C	probably damaging	Het
Vmn2r57	T	C	7: 41,078,242 (GRCm39)	N72S	probably benign	Het
Whrn	G	A	4: 63,390,921 (GRCm39)	T269I	probably benign	Het
Zfp759	T	A	13: 67,286,969 (GRCm39)	Y173*	probably null	Het

Other mutations in Or2h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01628:Or2h2	APN	17	37,396,192 (GRCm39)	nonsense	probably null
IGL01893:Or2h2	APN	17	37,396,760 (GRCm39)	missense	probably damaging	0.99
IGL02036:Or2h2	APN	17	37,396,559 (GRCm39)	missense	probably damaging	1.00
IGL02851:Or2h2	APN	17	37,397,048 (GRCm39)	splice site	probably null
R1701:Or2h2	UTSW	17	37,396,623 (GRCm39)	missense	probably benign	0.17
R1934:Or2h2	UTSW	17	37,396,906 (GRCm39)	missense	possibly damaging	0.69
R3773:Or2h2	UTSW	17	37,396,957 (GRCm39)	nonsense	probably null
R4570:Or2h2	UTSW	17	37,396,471 (GRCm39)	missense	probably damaging	1.00
R4571:Or2h2	UTSW	17	37,396,471 (GRCm39)	missense	probably damaging	1.00
R4888:Or2h2	UTSW	17	37,396,343 (GRCm39)	missense	probably damaging	1.00
R4914:Or2h2	UTSW	17	37,396,883 (GRCm39)	missense	probably damaging	1.00
R5014:Or2h2	UTSW	17	37,396,446 (GRCm39)	missense	probably benign	0.01
R7163:Or2h2	UTSW	17	37,396,937 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTTGAACAGCATCTGGGG -3'
(R):5'- GAAAAGTCCTTAGGTGACGGGC -3'

Sequencing Primer
(F):5'- TTGAACAGCATCTGGGGGACAC -3'
(R):5'- CCTGAGAAACATCAGTCTACCTTGTG -3'

Posted On

2018-05-04