Mutagenetix > Incidental Mutation

Incidental Mutation 'R0045:Or5h17'

218401

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

MMRRC Submission

038339-MU

Accession Numbers

Essential gene?

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

Stock #

R0045 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58815720-58821804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58820854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 269 (D269N)

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 benign
Transcript: ENSMUST00000073320
AA Change: D269N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000080602
Gene: ENSMUSG00000062105
AA Change: D269N

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 benign
Transcript: ENSMUST00000206303
AA Change: D269N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000213465
AA Change: D269N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000214831
AA Change: D269N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000214916
AA Change: D269N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.3063

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (75/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,220,148 (GRCm39)	N299S	probably damaging	Het
Abi3	A	G	11: 95,723,541 (GRCm39)	*368R	probably null	Het
Agbl1	T	C	7: 76,348,588 (GRCm39)		probably null	Het
Ap3b2	T	C	7: 81,115,941 (GRCm39)	D650G	possibly damaging	Het
Arhgap30	A	G	1: 171,235,998 (GRCm39)	S791G	probably benign	Het
Arvcf	T	A	16: 18,222,208 (GRCm39)	L722Q	probably benign	Het
Ascc3	C	T	10: 50,594,498 (GRCm39)	R1198*	probably null	Het
Atf2	G	T	2: 73,660,200 (GRCm39)	T189N	probably benign	Het
Atf7ip	A	G	6: 136,536,814 (GRCm39)	K16E	probably damaging	Het
Atg9b	G	T	5: 24,592,396 (GRCm39)	Q621K	probably damaging	Het
Atp12a	G	A	14: 56,610,330 (GRCm39)	E234K	probably damaging	Het
C8a	T	C	4: 104,684,012 (GRCm39)	K368E	probably benign	Het
Ccdc168	T	C	1: 44,096,365 (GRCm39)	K1578E	probably benign	Het
Cdh23	T	C	10: 60,366,757 (GRCm39)	Y241C	probably damaging	Het
Cdon	G	A	9: 35,398,103 (GRCm39)	S940N	probably benign	Het
Cds2	G	T	2: 132,147,075 (GRCm39)	G402V	possibly damaging	Het
Cog6	T	C	3: 52,900,171 (GRCm39)		probably null	Het
Commd10	T	C	18: 47,100,903 (GRCm39)	S114P	possibly damaging	Het
Dram2	T	C	3: 106,478,133 (GRCm39)	V155A	possibly damaging	Het
Egr2	T	A	10: 67,376,310 (GRCm39)	V252E	probably benign	Het
Exoc3l	C	T	8: 106,020,317 (GRCm39)	V203M	probably damaging	Het
Fsip1	C	A	2: 118,078,773 (GRCm39)		probably null	Het
Gm10840	C	A	11: 106,051,926 (GRCm39)		probably benign	Het
Gpr37l1	A	G	1: 135,088,883 (GRCm39)	L394P	probably damaging	Het
Gsap	T	C	5: 21,431,830 (GRCm39)	M243T	possibly damaging	Het
Hsd3b5	T	A	3: 98,526,460 (GRCm39)	I329F	probably benign	Het
Htra1	T	A	7: 130,563,262 (GRCm39)	S164R	probably damaging	Het
Il17b	G	A	18: 61,823,315 (GRCm39)	V50M	probably damaging	Het
Itga4	A	T	2: 79,131,375 (GRCm39)	Y581F	probably damaging	Het
Jmjd8	A	G	17: 26,048,255 (GRCm39)	E92G	probably damaging	Het
Kcnq4	T	A	4: 120,555,152 (GRCm39)	D677V	probably damaging	Het
Klhl42	A	G	6: 146,993,666 (GRCm39)	T213A	probably benign	Het
Lcn5	T	C	2: 25,550,710 (GRCm39)	S133P	probably damaging	Het
Liph	T	C	16: 21,786,803 (GRCm39)	Y271C	probably damaging	Het
Lpcat3	T	C	6: 124,678,437 (GRCm39)	I228T	probably benign	Het
Lrrd1	A	G	5: 3,916,418 (GRCm39)	K812E	possibly damaging	Het
Ltbp2	T	C	12: 84,860,062 (GRCm39)	T631A	probably damaging	Het
Ltbp2	G	A	12: 84,856,361 (GRCm39)	T701I	probably damaging	Het
Mavs	G	A	2: 131,080,751 (GRCm39)	R13Q	probably damaging	Het
Mtor	C	G	4: 148,549,406 (GRCm39)	H597D	probably benign	Het
Muc5b	T	A	7: 141,410,555 (GRCm39)	H1309Q	unknown	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Nnat	A	T	2: 157,402,408 (GRCm39)		probably benign	Het
Or14c40	T	C	7: 86,313,548 (GRCm39)	L226S	possibly damaging	Het
Or2ag19	T	A	7: 106,444,596 (GRCm39)	Y259*	probably null	Het
Or7e175	A	T	9: 20,048,487 (GRCm39)	Q25L	probably benign	Het
Pclo	C	T	5: 14,589,485 (GRCm39)	A595V	unknown	Het
Pcsk6	T	A	7: 65,612,676 (GRCm39)	C315S	probably damaging	Het
Pkd2	T	A	5: 104,603,671 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,606 (GRCm39)	I155F	probably damaging	Het
Rapgef4	A	G	2: 72,029,122 (GRCm39)	H398R	possibly damaging	Het
Ripor2	A	G	13: 24,878,209 (GRCm39)	D328G	probably damaging	Het
Rpgrip1	A	T	14: 52,378,601 (GRCm39)	T509S	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,622 (GRCm39)	I1032T	probably damaging	Het
Slc25a13	A	T	6: 6,109,277 (GRCm39)	S362T	probably benign	Het
Stk35	A	T	2: 129,642,488 (GRCm39)	R10*	probably null	Het
Tal1	A	G	4: 114,925,762 (GRCm39)	D277G	probably damaging	Het
Tecta	G	A	9: 42,286,487 (GRCm39)	T723I	probably damaging	Het
Trp53bp1	A	C	2: 121,034,978 (GRCm39)	V103G	probably benign	Het
Trpv4	A	G	5: 114,774,518 (GRCm39)	S189P	probably benign	Het
Ttll5	T	G	12: 85,926,133 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,584,143 (GRCm39)	T451A	probably benign	Het
Vac14	G	A	8: 111,363,584 (GRCm39)	D340N	probably benign	Het
Vars1	C	A	17: 35,217,042 (GRCm39)	A471S	probably benign	Het
Vars1	A	T	17: 35,229,595 (GRCm39)	H404L	probably damaging	Het
Vmn2r70	T	C	7: 85,215,252 (GRCm39)	N94S	probably damaging	Het
Vpreb1b	T	C	16: 17,798,631 (GRCm39)	L39P	probably damaging	Het
Vps13a	A	T	19: 16,618,174 (GRCm39)	L693*	probably null	Het
Wapl	A	G	14: 34,455,751 (GRCm39)	I176V	probably benign	Het
Wdr31	G	T	4: 62,382,270 (GRCm39)	L4I	possibly damaging	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
IGL02837:Or5h17	UTSW	16	58,820,909 (GRCm39)	missense	probably damaging	1.00
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'- AGCCATATGCAATCCTTTGCTTTATCCA -3'
(R):5'- AATGTGAAATGACTTTCAGGCTGCCTA -3'

Sequencing Primer
(F):5'- GACCAATAGATTATGTGTTCGCC -3'
(R):5'- CACTTTCATAAAGTACATGCATAGC -3'

Posted On

2014-08-06