Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Or2h15'

380744

Institutional Source

Beutler Lab

Gene Symbol

Or2h15

Ensembl Gene

ENSMUSG00000067186

Gene Name

olfactory receptor family 2 subfamily H member 15

Synonyms

Olfr132, MOR256-49, GA_x6K02T2PSCP-2579687-2578746

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38441140-38442081 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38441441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 214 (I214T)

Ref Sequence

ENSEMBL: ENSMUSP00000149593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087128] [ENSMUST00000216804]

AlphaFold

Q7TRI8

Predicted Effect

probably damaging
Transcript: ENSMUST00000087128
AA Change: I214T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084368
Gene: ENSMUSG00000067186
AA Change: I214T

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	25	244	3.1e-6	PFAM
Pfam:7tm_4	31	308	4.6e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	305	2.9e-7	PFAM
Pfam:7tm_1	41	290	8.1e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216804
AA Change: I214T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217361

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,276,226 (GRCm39)	E643G	probably damaging	Het
Abca2	T	C	2: 25,334,839 (GRCm39)	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,416 (GRCm39)	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,648,386 (GRCm39)	M478K	probably benign	Het
Akirin1	G	A	4: 123,630,651 (GRCm39)	S191F	probably damaging	Het
Aoc1l3	T	C	6: 48,964,426 (GRCm39)	S145P	probably damaging	Het
Aurkb	T	C	11: 68,938,970 (GRCm39)		probably benign	Het
Cabyr	T	C	18: 12,877,549 (GRCm39)		probably benign	Het
Ccp110	A	G	7: 118,324,542 (GRCm39)	E688G	probably damaging	Het
Champ1	T	A	8: 13,929,137 (GRCm39)	S432T	probably benign	Het
Crybg1	T	A	10: 43,875,209 (GRCm39)	N633I	probably damaging	Het
Dagla	A	T	19: 10,247,079 (GRCm39)		probably null	Het
Dkkl1	A	T	7: 44,860,949 (GRCm39)	L10Q	probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fndc7	G	T	3: 108,783,986 (GRCm39)	Q208K	probably benign	Het
Gins4	A	T	8: 23,724,796 (GRCm39)	C53S	probably damaging	Het
Gja8	T	A	3: 96,826,351 (GRCm39)		probably benign	Het
Golph3l	T	A	3: 95,524,734 (GRCm39)	N328K	probably benign	Het
Haus6	A	C	4: 86,503,524 (GRCm39)		probably benign	Het
Hdac5	A	G	11: 102,091,389 (GRCm39)		probably benign	Het
Ide	A	G	19: 37,255,155 (GRCm39)	Y883H	unknown	Het
Igf2r	A	G	17: 12,910,764 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,943,446 (GRCm39)	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,079,063 (GRCm39)		probably null	Het
Lancl1	A	T	1: 67,060,193 (GRCm39)	N77K	probably benign	Het
Lyst	T	A	13: 13,812,349 (GRCm39)	N920K	probably damaging	Het
Lyst	G	A	13: 13,933,963 (GRCm39)	V3554I	probably benign	Het
Map1a	G	A	2: 121,136,386 (GRCm39)	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,384,734 (GRCm39)		probably benign	Het
Myo10	C	A	15: 25,781,204 (GRCm39)	Q154K	probably damaging	Het
Or2a7	C	T	6: 43,151,255 (GRCm39)	L112F	probably benign	Het
Pcdhgb2	G	A	18: 37,825,267 (GRCm39)	V753M	probably benign	Het
Pnn	T	A	12: 59,117,013 (GRCm39)	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,540 (GRCm39)	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,855,049 (GRCm39)	D109E	probably benign	Het
Prr15l	G	A	11: 96,825,588 (GRCm39)	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,339 (GRCm39)	F219S	probably benign	Het
Rnpep	C	A	1: 135,194,764 (GRCm39)		probably benign	Het
Ryr1	T	C	7: 28,803,723 (GRCm39)	T643A	probably damaging	Het
Ryr2	A	T	13: 11,960,831 (GRCm39)	C36S	probably damaging	Het
Shc3	G	T	13: 51,596,805 (GRCm39)	T406N	probably benign	Het
Slit3	G	T	11: 35,579,420 (GRCm39)	G1199V	probably damaging	Het
Spata6l	G	T	19: 28,919,175 (GRCm39)	H195N	possibly damaging	Het
Sptbn5	G	A	2: 119,880,601 (GRCm39)		noncoding transcript	Het
St8sia6	T	C	2: 13,670,253 (GRCm39)	N236D	probably damaging	Het
Stpg1	A	T	4: 135,233,727 (GRCm39)	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,742,550 (GRCm39)	I59N	probably damaging	Het
Vmn1r208	T	G	13: 22,956,958 (GRCm39)	I180L	probably benign	Het
Vmn2r51	A	T	7: 9,832,247 (GRCm39)	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,553,402 (GRCm39)	I618N	probably damaging	Het
Wrn	T	C	8: 33,812,371 (GRCm39)	N182S	probably benign	Het
Zfp296	G	T	7: 19,313,637 (GRCm39)	C164F	possibly damaging	Het
Zfp764l1	A	G	7: 126,992,521 (GRCm39)	Y30H	probably damaging	Het
Zmynd8	A	G	2: 165,676,871 (GRCm39)	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,755,571 (GRCm39)	L110P	probably damaging	Het

Other mutations in Or2h15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02276:Or2h15	APN	17	38,441,484 (GRCm39)	missense	probably damaging	0.97
IGL02659:Or2h15	APN	17	38,441,427 (GRCm39)	missense	possibly damaging	0.78
IGL02831:Or2h15	APN	17	38,441,403 (GRCm39)	missense	probably benign	0.10
R0070:Or2h15	UTSW	17	38,441,780 (GRCm39)	missense	probably damaging	1.00
R0070:Or2h15	UTSW	17	38,441,780 (GRCm39)	missense	probably damaging	1.00
R1162:Or2h15	UTSW	17	38,441,984 (GRCm39)	missense	possibly damaging	0.69
R2697:Or2h15	UTSW	17	38,441,900 (GRCm39)	missense	probably damaging	0.99
R4694:Or2h15	UTSW	17	38,441,748 (GRCm39)	missense	probably damaging	1.00
R4883:Or2h15	UTSW	17	38,441,508 (GRCm39)	missense	probably damaging	1.00
R4982:Or2h15	UTSW	17	38,441,468 (GRCm39)	missense	probably damaging	0.99
R5058:Or2h15	UTSW	17	38,441,432 (GRCm39)	missense	probably damaging	1.00
R5653:Or2h15	UTSW	17	38,442,075 (GRCm39)	missense	possibly damaging	0.63
R5946:Or2h15	UTSW	17	38,441,598 (GRCm39)	missense	probably benign	0.07
R7083:Or2h15	UTSW	17	38,441,601 (GRCm39)	missense	probably benign
R7226:Or2h15	UTSW	17	38,441,324 (GRCm39)	missense	probably benign	0.01
R7391:Or2h15	UTSW	17	38,441,941 (GRCm39)	missense	probably benign
R8297:Or2h15	UTSW	17	38,441,484 (GRCm39)	missense	probably damaging	0.97
R8378:Or2h15	UTSW	17	38,441,678 (GRCm39)	missense	probably benign	0.05
R8425:Or2h15	UTSW	17	38,441,927 (GRCm39)	missense	possibly damaging	0.83
R8554:Or2h15	UTSW	17	38,441,489 (GRCm39)	missense	probably damaging	1.00
R9223:Or2h15	UTSW	17	38,442,012 (GRCm39)	missense	possibly damaging	0.66
R9278:Or2h15	UTSW	17	38,441,693 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCATTCATGAGCATAGTGAGTC -3'
(R):5'- CCTAAAGTATGTCTGCAGCTGG -3'

Sequencing Primer
(F):5'- TCTTGGGTTGAAGATAGACACC -3'
(R):5'- ATGTCTGCAGCTGGCTGTCC -3'

Posted On

2016-04-15