Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02837:Or5h17'

391937

Institutional Source

Beutler Lab

Gene Symbol

Or5h17

Ensembl Gene

ENSMUSG00000062105

Gene Name

olfactory receptor family 5 subfamily H member 17

Synonyms

MOR183-2, Olfr183, GA_x54KRFPKG5P-55229158-55230087

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL02837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58815720-58821804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58820909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 287 (P287L)

Ref Sequence

ENSEMBL: ENSMUSP00000149279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073320] [ENSMUST00000206303] [ENSMUST00000213465] [ENSMUST00000214831] [ENSMUST00000214916]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000073320
AA Change: P287L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080602
Gene: ENSMUSG00000062105
AA Change: P287L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.7e-48	PFAM
Pfam:7tm_1	41	290	4.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206303
AA Change: P287L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213465
AA Change: P287L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214831
AA Change: P287L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214916
AA Change: P287L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.7417

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (56/57)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 36,268,473 (GRCm39)	V786I	probably benign	Het
Adamts13	A	G	2: 26,881,432 (GRCm39)	N803S	probably benign	Het
Ago4	C	G	4: 126,391,093 (GRCm39)	G730R	possibly damaging	Het
Amn	T	A	12: 111,238,333 (GRCm39)	M55K	possibly damaging	Het
Apob	A	T	12: 8,055,102 (GRCm39)	Y1334F	probably damaging	Het
Arl14ep	A	C	2: 106,799,574 (GRCm39)	L89R	probably damaging	Het
Bcam	T	G	7: 19,498,111 (GRCm39)	E304A	probably damaging	Het
Car10	A	T	11: 93,488,077 (GRCm39)	Y258F	probably damaging	Het
Cerk	T	A	15: 86,028,896 (GRCm39)	K82*	probably null	Het
Chac2	T	C	11: 30,927,496 (GRCm39)	N141S	probably damaging	Het
Clpx	T	G	9: 65,231,541 (GRCm39)	L556R	probably damaging	Het
Csgalnact2	T	C	6: 118,101,364 (GRCm39)	I55V	probably benign	Het
Cul1	T	C	6: 47,500,139 (GRCm39)	V650A	probably benign	Het
Dnah5	A	T	15: 28,269,546 (GRCm39)	E895D	probably benign	Het
Dnah9	T	C	11: 65,765,022 (GRCm39)	K3841E	probably damaging	Het
Dpys	A	G	15: 39,720,701 (GRCm39)	S20P	probably damaging	Het
Fat1	G	A	8: 45,470,471 (GRCm39)	V1490I	probably benign	Het
Flg2	T	G	3: 93,109,044 (GRCm39)	C357W	probably damaging	Het
Flt1	T	A	5: 147,591,980 (GRCm39)	D494V	probably benign	Het
Fpr-rs4	T	A	17: 18,242,513 (GRCm39)	D173E	probably benign	Het
Gm2666	G	T	1: 85,412,824 (GRCm39)		noncoding transcript	Het
Gm3867	C	A	9: 36,169,096 (GRCm39)		noncoding transcript	Het
Gm5436	A	T	12: 84,305,374 (GRCm39)		noncoding transcript	Het
Kit	G	A	5: 75,799,668 (GRCm39)	V467I	probably benign	Het
Krtap4-16	A	G	11: 99,741,863 (GRCm39)	V179A	unknown	Het
Lrp8	C	A	4: 107,718,478 (GRCm39)	H693Q	probably benign	Het
Lrrc49	A	G	9: 60,517,605 (GRCm39)	S75P	probably benign	Het
Ltbp4	C	A	7: 27,013,806 (GRCm39)	V1068L	probably damaging	Het
Magel2	C	T	7: 62,028,008 (GRCm39)	P304L	possibly damaging	Het
Muc19	T	A	15: 91,766,850 (GRCm39)		noncoding transcript	Het
Npas3	T	C	12: 53,993,980 (GRCm39)	V175A	possibly damaging	Het
Nr1h4	A	T	10: 89,352,342 (GRCm39)	H8Q	probably benign	Het
Ntsr2	G	A	12: 16,703,876 (GRCm39)	V126M	probably damaging	Het
Odf2	A	T	2: 29,816,725 (GRCm39)	T725S	probably damaging	Het
Or52e19b	C	T	7: 103,032,822 (GRCm39)	C129Y	probably damaging	Het
Or9s13	T	C	1: 92,548,404 (GRCm39)	Y259H	possibly damaging	Het
Pgr	T	C	9: 8,946,639 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,603,562 (GRCm39)	C249*	probably null	Het
Plcd3	C	T	11: 102,961,929 (GRCm39)	V726M	possibly damaging	Het
Prl8a1	A	G	13: 27,759,617 (GRCm39)	L140P	probably damaging	Het
Prpf6	C	A	2: 181,264,056 (GRCm39)	D239E	probably damaging	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Rimbp2	G	T	5: 128,874,809 (GRCm39)	Q268K	probably damaging	Het
Rps19-ps13	A	T	18: 40,859,447 (GRCm39)		noncoding transcript	Het
Sema4c	C	A	1: 36,591,965 (GRCm39)	G266V	probably damaging	Het
Sema4g	T	C	19: 44,985,150 (GRCm39)	F156S	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Speer4f1	G	T	5: 17,685,381 (GRCm39)	L225F	unknown	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 144,995,568 (GRCm39)	E497G	probably benign	Het
Trim3	T	C	7: 105,261,863 (GRCm39)	N631S	probably damaging	Het
Trim45	C	T	3: 100,838,943 (GRCm39)		probably benign	Het
Wdr43	A	G	17: 71,949,731 (GRCm39)	D445G	probably benign	Het

Other mutations in Or5h17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02294:Or5h17	APN	16	58,820,428 (GRCm39)	missense	probably damaging	1.00
IGL02795:Or5h17	APN	16	58,820,640 (GRCm39)	missense	possibly damaging	0.73
IGL02803:Or5h17	APN	16	58,820,321 (GRCm39)	missense	probably benign	0.33
R0045:Or5h17	UTSW	16	58,820,854 (GRCm39)	missense	probably benign	0.00
R0372:Or5h17	UTSW	16	58,820,450 (GRCm39)	missense	probably benign	0.03
R0652:Or5h17	UTSW	16	58,820,063 (GRCm39)	missense	probably damaging	0.99
R0890:Or5h17	UTSW	16	58,820,150 (GRCm39)	missense	possibly damaging	0.94
R1279:Or5h17	UTSW	16	58,820,501 (GRCm39)	missense	possibly damaging	0.94
R1429:Or5h17	UTSW	16	58,820,501 (GRCm39)	missense	possibly damaging	0.94
R1473:Or5h17	UTSW	16	58,820,275 (GRCm39)	missense	probably benign	0.32
R2115:Or5h17	UTSW	16	58,820,783 (GRCm39)	missense	possibly damaging	0.50
R2117:Or5h17	UTSW	16	58,820,783 (GRCm39)	missense	possibly damaging	0.50
R4508:Or5h17	UTSW	16	58,820,138 (GRCm39)	missense	probably benign	0.26
R4709:Or5h17	UTSW	16	58,820,458 (GRCm39)	missense	probably benign	0.01
R4929:Or5h17	UTSW	16	58,820,582 (GRCm39)	missense	probably damaging	1.00
R5478:Or5h17	UTSW	16	58,820,425 (GRCm39)	missense	possibly damaging	0.88
R5522:Or5h17	UTSW	16	58,820,268 (GRCm39)	missense	probably benign	0.22
R5571:Or5h17	UTSW	16	58,820,569 (GRCm39)	missense	probably benign	0.02
R5685:Or5h17	UTSW	16	58,820,709 (GRCm39)	missense	probably benign
R6064:Or5h17	UTSW	16	58,820,186 (GRCm39)	missense	probably damaging	0.99
R7443:Or5h17	UTSW	16	58,820,353 (GRCm39)	missense	probably damaging	0.96
R7870:Or5h17	UTSW	16	58,820,086 (GRCm39)	missense	probably benign	0.00
R8085:Or5h17	UTSW	16	58,820,432 (GRCm39)	missense	probably benign	0.02
R8459:Or5h17	UTSW	16	58,820,348 (GRCm39)	missense	probably damaging	1.00
R9177:Or5h17	UTSW	16	58,820,083 (GRCm39)	missense	probably damaging	0.99
R9268:Or5h17	UTSW	16	58,820,083 (GRCm39)	missense	probably damaging	0.99
R9569:Or5h17	UTSW	16	58,820,228 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTGGTTCAATACAAGTGTTTACC -3'
(R):5'- TGAAATGACTTTCAGGCTGCC -3'

Sequencing Primer
(F):5'- ACAAGTGTTTACCATTATGACTGTTC -3'
(R):5'- GTTTGCATATGAACAATGACTACAG -3'

Posted On

2016-06-08