Mutagenetix > Incidental Mutation

Incidental Mutation 'R5685:Or5t17'

443264

Institutional Source

Beutler Lab

Gene Symbol

Or5t17

Ensembl Gene

ENSMUSG00000049843

Gene Name

olfactory receptor family 5 subfamily T member 17

Synonyms

MOR179-4, GA_x6K02T2Q125-48487992-48488966, Olfr1102

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R5685 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86832276-86833338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86832621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 103 (S103T)

Ref Sequence

ENSEMBL: ENSMUSP00000149634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055129] [ENSMUST00000214002]

AlphaFold

Q8VES2

Predicted Effect

probably benign
Transcript: ENSMUST00000055129
AA Change: S103T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000052861
Gene: ENSMUSG00000049843
AA Change: S103T

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:7tm_4	43	320	8.1e-52	PFAM
Pfam:7TM_GPCR_Srsx	47	322	8.7e-6	PFAM
Pfam:7tm_1	53	302	3.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214002
AA Change: S103T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 43,879,974 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,896,348 (GRCm39)		probably null	Het
Abcg1	G	T	17: 31,317,260 (GRCm39)	E191*	probably null	Het
Als2	A	G	1: 59,218,250 (GRCm39)	Y1263H	possibly damaging	Het
Amer2	T	A	14: 60,617,026 (GRCm39)	L281*	probably null	Het
Anxa6	T	C	11: 54,887,196 (GRCm39)	N361D	probably benign	Het
Ap1g1	A	T	8: 110,564,415 (GRCm39)	N320I	probably damaging	Het
Aqr	T	C	2: 113,986,746 (GRCm39)	D208G	possibly damaging	Het
Arnt2	T	C	7: 83,912,473 (GRCm39)	T545A	probably benign	Het
Aspm	G	A	1: 139,415,026 (GRCm39)	V2701I	probably benign	Het
Atad2	A	G	15: 57,980,194 (GRCm39)	V106A	possibly damaging	Het
Bbs2	A	C	8: 94,814,061 (GRCm39)	F186V	probably damaging	Het
Catsperg2	G	A	7: 29,400,613 (GRCm39)	P247L	probably damaging	Het
Cfap57	G	T	4: 118,426,656 (GRCm39)	Q1098K	probably benign	Het
Cxcr6	A	G	9: 123,639,811 (GRCm39)	T271A	probably benign	Het
Dock1	A	G	7: 134,374,091 (GRCm39)	E579G	probably benign	Het
Frem3	A	G	8: 81,421,932 (GRCm39)	T2111A	probably damaging	Het
Galnt1	A	T	18: 24,397,586 (GRCm39)	D229V	possibly damaging	Het
Gbp2b	A	C	3: 142,313,919 (GRCm39)	M400L	probably benign	Het
Gm1123	T	A	9: 98,891,486 (GRCm39)		probably null	Het
Gtpbp6	T	C	5: 110,252,805 (GRCm39)	H349R	probably damaging	Het
Hyal5	A	G	6: 24,876,691 (GRCm39)	K188R	probably benign	Het
Insrr	T	C	3: 87,707,803 (GRCm39)		probably null	Het
Kcnn1	A	T	8: 71,305,374 (GRCm39)	C322S	probably damaging	Het
Kdelr1	GTCTA	G	7: 45,531,041 (GRCm39)		probably null	Het
Kif23	T	C	9: 61,852,691 (GRCm39)	T8A	probably benign	Het
Lrrk2	A	T	15: 91,687,504 (GRCm39)	R2198*	probably null	Het
Mcl1	T	G	3: 95,567,109 (GRCm39)	D177E	possibly damaging	Het
Mrps11	A	T	7: 78,441,628 (GRCm39)	T137S	probably benign	Het
Mtbp	A	G	15: 55,426,168 (GRCm39)	Y90C	probably damaging	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nxt1	G	T	2: 148,517,673 (GRCm39)	W138L	possibly damaging	Het
Or5al1	T	C	2: 85,990,139 (GRCm39)	T192A	probably damaging	Het
Or5h17	T	A	16: 58,820,709 (GRCm39)	F220L	probably benign	Het
Osbpl7	C	A	11: 96,951,103 (GRCm39)	P478H	probably damaging	Het
Phf8-ps	T	A	17: 33,285,746 (GRCm39)	H352L	probably benign	Het
Pitpna	T	A	11: 75,511,095 (GRCm39)	F222I	probably damaging	Het
Plekhh2	A	T	17: 84,877,310 (GRCm39)	R552W	probably damaging	Het
Plxnb2	C	T	15: 89,051,235 (GRCm39)	R328H	probably damaging	Het
Pmaip1	C	T	18: 66,594,055 (GRCm39)	T65I	probably benign	Het
Ppil4	T	G	10: 7,674,186 (GRCm39)	I110S	probably damaging	Het
Prpf38a	A	G	4: 108,427,351 (GRCm39)		probably null	Het
Psme4	G	A	11: 30,759,837 (GRCm39)	G320D	probably damaging	Het
Rab17	C	A	1: 90,886,679 (GRCm39)	R191L	probably benign	Het
Rhag	A	T	17: 41,142,222 (GRCm39)	M222L	possibly damaging	Het
Rims2	A	T	15: 39,300,602 (GRCm39)	H111L	possibly damaging	Het
Setx	T	C	2: 29,061,292 (GRCm39)	Y2234H	probably damaging	Het
Slc2a8	T	C	2: 32,871,801 (GRCm39)	I51V	possibly damaging	Het
Slc34a1	T	C	13: 55,549,085 (GRCm39)		probably null	Het
Slf1	T	C	13: 77,231,598 (GRCm39)	T594A	possibly damaging	Het
Sox6	A	T	7: 115,178,392 (GRCm39)		probably null	Het
Spata13	C	T	14: 60,928,652 (GRCm39)	S70L	probably benign	Het
Stard13	A	G	5: 150,986,592 (GRCm39)	I188T	possibly damaging	Het
Stard9	A	G	2: 120,535,803 (GRCm39)	D4020G	probably damaging	Het
Tdp1	A	G	12: 99,868,611 (GRCm39)	K255R	possibly damaging	Het
Tns2	G	T	15: 102,015,538 (GRCm39)	A124S	probably benign	Het
Top2b	T	A	14: 16,413,666 (GRCm38)	W1045R	probably damaging	Het
Trav12-2	T	C	14: 53,854,122 (GRCm39)	V32A	probably damaging	Het
Vps13c	G	T	9: 67,870,455 (GRCm39)	R3198L	possibly damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp52	T	A	17: 21,782,013 (GRCm39)	S620R	probably benign	Het
Zfp62	T	A	11: 49,107,044 (GRCm39)	C378*	probably null	Het
Zfp638	C	A	6: 83,906,969 (GRCm39)	P378H	probably damaging	Het

Other mutations in Or5t17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Or5t17	APN	2	86,833,267 (GRCm39)	missense	probably benign	0.31
IGL01584:Or5t17	APN	2	86,832,495 (GRCm39)	missense	probably benign	0.04
IGL01913:Or5t17	APN	2	86,833,164 (GRCm39)	missense	possibly damaging	0.68
IGL02672:Or5t17	APN	2	86,832,417 (GRCm39)	missense	probably benign	0.00
R0003:Or5t17	UTSW	2	86,832,710 (GRCm39)	nonsense	probably null
R0003:Or5t17	UTSW	2	86,832,710 (GRCm39)	nonsense	probably null
R1674:Or5t17	UTSW	2	86,832,577 (GRCm39)	missense	probably benign	0.07
R1688:Or5t17	UTSW	2	86,832,730 (GRCm39)	missense	probably benign	0.01
R3826:Or5t17	UTSW	2	86,832,388 (GRCm39)	missense	probably damaging	0.97
R3925:Or5t17	UTSW	2	86,832,718 (GRCm39)	missense	possibly damaging	0.91
R4023:Or5t17	UTSW	2	86,833,266 (GRCm39)	nonsense	probably null
R4730:Or5t17	UTSW	2	86,832,510 (GRCm39)	missense	possibly damaging	0.48
R5154:Or5t17	UTSW	2	86,832,382 (GRCm39)	missense	probably benign	0.00
R5525:Or5t17	UTSW	2	86,832,683 (GRCm39)	missense	possibly damaging	0.95
R5788:Or5t17	UTSW	2	86,832,645 (GRCm39)	missense	probably benign	0.01
R6280:Or5t17	UTSW	2	86,832,364 (GRCm39)	missense	probably damaging	0.99
R7178:Or5t17	UTSW	2	86,832,879 (GRCm39)	missense	probably benign	0.07
R9493:Or5t17	UTSW	2	86,833,140 (GRCm39)	missense	probably benign	0.45
R9745:Or5t17	UTSW	2	86,832,487 (GRCm39)	missense	probably benign	0.28
Z1176:Or5t17	UTSW	2	86,832,955 (GRCm39)	missense	probably benign	0.00
Z1176:Or5t17	UTSW	2	86,832,954 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGGATTCACAGATGATGTTGACATG -3'
(R):5'- CGTAGCATGTAAAATTCCACCAG -3'

Sequencing Primer
(F):5'- ATCGAGGATTCACGGCT -3'
(R):5'- GCATGTAAAATTCCACCAGTATAGG -3'

Posted On

2016-11-09