Mutagenetix > Incidental Mutation

Incidental Mutation 'R1701:Or2h2'

189755

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

039734-MU

Accession Numbers

Essential gene?

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

Stock #

R1701 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37396083-37397128 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37396623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 145 (V145M)

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: V145M

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065322
Gene: ENSMUSG00000056600
AA Change: V145M

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: V145M

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000215195
AA Change: V145M

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215502

Predicted Effect

probably benign
Transcript: ENSMUST00000216376

Predicted Effect

probably benign
Transcript: ENSMUST00000216488
AA Change: V145M

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000217372

Predicted Effect

probably benign
Transcript: ENSMUST00000217397
AA Change: V145M

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

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
Aadacl3	A	G	4: 144,190,142 (GRCm39)	L53P	probably damaging	Het
Acadsb	T	A	7: 131,026,213 (GRCm39)	F19I	probably benign	Het
Aldh3a2	C	T	11: 61,147,598 (GRCm39)	G303S	probably damaging	Het
Anks1b	T	C	10: 89,885,816 (GRCm39)	Y171H	probably damaging	Het
Anxa7	A	T	14: 20,510,229 (GRCm39)	I385N	probably damaging	Het
Astn1	A	T	1: 158,331,877 (GRCm39)	T324S	possibly damaging	Het
Ccdc88a	T	C	11: 29,427,427 (GRCm39)	V235A	possibly damaging	Het
Crhr2	T	C	6: 55,076,255 (GRCm39)	K258R	probably damaging	Het
Ctnnd1	T	C	2: 84,439,335 (GRCm39)	E786G	probably damaging	Het
Ctnnd2	G	A	15: 30,922,127 (GRCm39)	D918N	probably damaging	Het
Dnah9	A	G	11: 65,802,750 (GRCm39)	S200P	probably damaging	Het
Dot1l	T	C	10: 80,626,576 (GRCm39)	S1266P	possibly damaging	Het
Efemp1	A	G	11: 28,871,750 (GRCm39)	T422A	possibly damaging	Het
Fam135b	T	C	15: 71,331,578 (GRCm39)	H1137R	probably damaging	Het
Flot2	C	T	11: 77,940,373 (GRCm39)	S40L	possibly damaging	Het
Fras1	G	A	5: 96,748,643 (GRCm39)	S706N	probably benign	Het
Gbf1	T	C	19: 46,250,114 (GRCm39)	L357P	probably damaging	Het
Gpatch2l	A	G	12: 86,335,726 (GRCm39)	S476G	probably benign	Het
Hbb-bh2	T	C	7: 103,489,450 (GRCm39)	T34A	probably benign	Het
Ints8	A	G	4: 11,231,656 (GRCm39)	L443P	probably damaging	Het
Intu	T	A	3: 40,618,694 (GRCm39)	D233E	probably damaging	Het
Itprid2	A	G	2: 79,466,394 (GRCm39)	K75E	probably damaging	Het
Kctd1	T	A	18: 15,102,617 (GRCm39)	I259L	possibly damaging	Het
Lama5	A	G	2: 179,863,162 (GRCm39)	C108R	probably damaging	Het
Lgals3bp	T	C	11: 118,284,781 (GRCm39)	Y266C	probably damaging	Het
Lrig2	T	C	3: 104,401,993 (GRCm39)	I111V	probably benign	Het
Mtcl2	T	C	2: 156,872,539 (GRCm39)	N936S	probably damaging	Het
Myh8	G	T	11: 67,170,964 (GRCm39)	C125F	probably damaging	Het
Or2d3c	C	A	7: 106,526,129 (GRCm39)	C179F	probably damaging	Het
Or51a10	T	C	7: 103,699,402 (GRCm39)	E53G	possibly damaging	Het
Or5ac21	T	C	16: 59,123,651 (GRCm39)	I46T	probably benign	Het
Or5p76	T	G	7: 108,122,731 (GRCm39)	Q142P	probably benign	Het
Or5w16	T	A	2: 87,576,894 (GRCm39)	M118K	probably damaging	Het
Or6c202	T	C	10: 128,995,974 (GRCm39)	Q293R	probably damaging	Het
Or8g4	A	T	9: 39,662,365 (GRCm39)	I228F	probably damaging	Het
Pate8	A	G	9: 36,493,114 (GRCm39)		probably benign	Het
Phc2	C	T	4: 128,645,400 (GRCm39)	P836S	probably damaging	Het
Pla2g7	T	C	17: 43,911,415 (GRCm39)	F189S	probably damaging	Het
Ptprk	A	G	10: 28,342,054 (GRCm39)	D487G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rad54l2	A	G	9: 106,577,692 (GRCm39)		probably null	Het
Robo4	G	T	9: 37,314,739 (GRCm39)	V198L	probably benign	Het
Selenbp1	C	A	3: 94,844,701 (GRCm39)	H119Q	probably damaging	Het
Slc25a13	T	C	6: 6,152,525 (GRCm39)		probably null	Het
Slc35f5	A	G	1: 125,498,330 (GRCm39)	E176G	possibly damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Tenm4	G	A	7: 96,552,096 (GRCm39)	V2512M	probably damaging	Het
Tmc8	A	G	11: 117,682,188 (GRCm39)		probably null	Het
Trim30d	C	T	7: 104,133,389 (GRCm39)	W21*	probably null	Het
Ube3c	G	A	5: 29,806,200 (GRCm39)	V281I	probably benign	Het
Usp17ld	T	C	7: 102,899,783 (GRCm39)	K383R	probably benign	Het
Vmn1r172	A	T	7: 23,359,529 (GRCm39)	Y138F	probably damaging	Het
Vmn1r180	T	C	7: 23,652,395 (GRCm39)	V186A	possibly damaging	Het
Vmn2r25	T	A	6: 123,828,754 (GRCm39)		probably null	Het
Vmn2r61	T	C	7: 41,949,935 (GRCm39)	F785S	probably damaging	Het
Zfp141	T	A	7: 42,125,470 (GRCm39)	Y334F	probably benign	Het
Zfp609	T	C	9: 65,638,282 (GRCm39)	I317V	probably benign	Het
Zfp879	A	G	11: 50,724,060 (GRCm39)	I259T	possibly 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
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
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'- CCTGGCAATGGCACCATAAGAGAC -3'
(R):5'- GCTTCTCTGAACACCCACAACTGG -3'

Sequencing Primer
(F):5'- TGAGGCTCAGAGGTACAACC -3'
(R):5'- CAACTGGAAAAGGTTCTCTTCGTC -3'

Posted On

2014-05-14