Mutagenetix > Incidental Mutation

Incidental Mutation 'R4571:Or2h2'

342171

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

041795-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37396083-37397128 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37396471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 195 (I195M)

Ref Sequence

ENSEMBL: ENSMUSP00000150119 (fasta)

Gene Model

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

AlphaFold

Q0VEL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000070808
AA Change: I195M

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

SMART Domains

Protein: ENSMUSP00000065322
Gene: ENSMUSG00000056600
AA Change: I195M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215195
AA Change: I195M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215502

Predicted Effect

probably damaging
Transcript: ENSMUST00000216488
AA Change: I195M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217397
AA Change: I195M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (69/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,920,884 (GRCm39)	C1497S	probably damaging	Het
Acoxl	G	T	2: 127,719,727 (GRCm39)	G163W	probably damaging	Het
Apbb1	T	A	7: 105,222,969 (GRCm39)	N214I	probably damaging	Het
Apol7b	T	C	15: 77,307,734 (GRCm39)	K254E	probably benign	Het
Arl4d	T	A	11: 101,557,969 (GRCm39)	V165E	possibly damaging	Het
Brca1	C	A	11: 101,408,192 (GRCm39)	R1377L	probably benign	Het
Btf3	A	G	13: 98,449,792 (GRCm39)	F65L	probably benign	Het
C2	T	C	17: 35,082,635 (GRCm39)	N495D	probably benign	Het
Cacna1c	T	C	6: 118,607,341 (GRCm39)	T1188A	probably benign	Het
Chd7	C	A	4: 8,866,217 (GRCm39)	D796E	probably benign	Het
Clasp2	G	T	9: 113,676,789 (GRCm39)	L173F	probably damaging	Het
Clec4g	A	T	8: 3,768,766 (GRCm39)		probably null	Het
Col9a3	T	C	2: 180,258,159 (GRCm39)		probably benign	Het
Csmd2	T	A	4: 128,373,888 (GRCm39)		probably null	Het
Ddx11	T	C	17: 66,437,768 (GRCm39)	C165R	probably benign	Het
Dnah7c	A	C	1: 46,572,376 (GRCm39)	M950L	probably damaging	Het
Dusp23	A	C	1: 172,460,181 (GRCm39)		probably null	Het
Ebag9	A	T	15: 44,500,158 (GRCm39)		probably null	Het
Edn3	G	A	2: 174,623,697 (GRCm39)	A211T	probably benign	Het
Eif3e	G	A	15: 43,129,558 (GRCm39)	T190I	possibly damaging	Het
Fam76a	T	C	4: 132,648,208 (GRCm39)	H3R	possibly damaging	Het
Gabbr1	G	T	17: 37,365,128 (GRCm39)	E138*	probably null	Het
Galc	T	C	12: 98,188,876 (GRCm39)	T412A	probably benign	Het
Gimap3	T	C	6: 48,742,654 (GRCm39)	D92G	possibly damaging	Het
Gin1	T	C	1: 97,712,801 (GRCm39)	Y285H	probably damaging	Het
Gm4868	A	G	5: 125,925,782 (GRCm39)		noncoding transcript	Het
Gm7052	T	A	17: 22,259,405 (GRCm39)		probably benign	Het
Gpcpd1	T	A	2: 132,392,270 (GRCm39)	E226D	probably benign	Het
Hoxb4	T	C	11: 96,209,992 (GRCm39)	S133P	possibly damaging	Het
Hrg	C	T	16: 22,779,972 (GRCm39)		probably benign	Het
Insrr	A	G	3: 87,708,194 (GRCm39)	K212R	probably benign	Het
Ipp	A	G	4: 116,387,655 (GRCm39)	D411G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnq3	A	G	15: 65,902,461 (GRCm39)	F172L	probably damaging	Het
Kdm5d	T	C	Y: 927,110 (GRCm39)	F616S	probably damaging	Het
Lars1	T	C	18: 42,361,295 (GRCm39)		probably null	Het
Lmo7	G	T	14: 102,125,030 (GRCm39)	Q496H	probably damaging	Het
Map3k9	C	A	12: 81,780,865 (GRCm39)	A432S	probably benign	Het
Nop2	T	G	6: 125,117,844 (GRCm39)		probably null	Het
Nup50l	T	A	6: 96,141,862 (GRCm39)	N394I	probably damaging	Het
Or10ag53	C	A	2: 87,082,802 (GRCm39)	Q174K	possibly damaging	Het
Or5m11b	A	T	2: 85,806,175 (GRCm39)	E196V	probably damaging	Het
Or6k2	A	T	1: 173,986,494 (GRCm39)	N52Y	possibly damaging	Het
Pan2	A	G	10: 128,144,512 (GRCm39)	T187A	probably benign	Het
Pcmtd2	A	G	2: 181,484,217 (GRCm39)	E9G	possibly damaging	Het
Pik3cb	T	A	9: 98,972,310 (GRCm39)	I283F	possibly damaging	Het
Pkhd1	G	A	1: 20,683,633 (GRCm39)	T40I	probably damaging	Het
Plxna2	T	C	1: 194,493,296 (GRCm39)	V1857A	possibly damaging	Het
Polg	T	C	7: 79,110,127 (GRCm39)	S334G	probably damaging	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,546,156 (GRCm39)		noncoding transcript	Het
Slc6a18	A	T	13: 73,814,489 (GRCm39)	N468K	possibly damaging	Het
Slco4a1	A	T	2: 180,106,171 (GRCm39)	T118S	probably benign	Het
Smg1	A	T	7: 117,738,688 (GRCm39)	N3520K	possibly damaging	Het
Tapbp	C	A	17: 34,145,427 (GRCm39)	D415E	probably damaging	Het
Topaz1	A	G	9: 122,576,501 (GRCm39)	T31A	probably benign	Het
Trpv6	C	T	6: 41,598,678 (GRCm39)	R649H	probably damaging	Het
Vmn1r188	A	G	13: 22,272,688 (GRCm39)	Y214C	probably benign	Het
Vps8	T	A	16: 21,254,525 (GRCm39)	I59N	probably damaging	Het
Wnt9a	T	C	11: 59,222,163 (GRCm39)	C354R	probably damaging	Het
Zcchc2	A	G	1: 105,958,987 (GRCm39)	T1153A	possibly damaging	Het
Zfp30	A	G	7: 29,492,627 (GRCm39)	R294G	probably damaging	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	Het
Zfp62	A	C	11: 49,106,568 (GRCm39)	S220R	probably damaging	Het
Zfp62	G	T	11: 49,106,569 (GRCm39)	S220I	probably damaging	Het
Zp3r	A	G	1: 130,505,757 (GRCm39)	S423P	probably damaging	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
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
R6381:Or2h2	UTSW	17	37,396,977 (GRCm39)	missense	probably benign	0.00
R7163:Or2h2	UTSW	17	37,396,937 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGGATTCTTGGGCTGCAG -3'
(R):5'- TGCACTATGCCACCATCATC -3'

Sequencing Primer
(F):5'- TTCTTGGGCTGCAGATAAACAG -3'
(R):5'- ATCATCCACCCTCGCCTGTG -3'

Posted On

2015-09-24