Mutagenetix > Incidental Mutation

Incidental Mutation 'R5788:Or5t17'

448128

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

MMRRC Submission

043382-MU

Accession Numbers

Essential gene?

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

Stock #

R5788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86832276-86833338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86832645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 111 (T111A)

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: T111A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000052861
Gene: ENSMUSG00000049843
AA Change: T111A

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: T111A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Meta Mutation Damage Score

0.0812

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

98% (62/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	A	G	7: 131,045,328 (GRCm39)	Y420C	probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Amfr	T	A	8: 94,726,942 (GRCm39)	R90S	probably damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Ano5	G	A	7: 51,216,066 (GRCm39)	D348N	possibly damaging	Het
Atp8a2	T	A	14: 60,258,242 (GRCm39)	D440V	probably damaging	Het
Bahcc1	A	G	11: 120,177,178 (GRCm39)	D2022G	probably damaging	Het
Bicd1	T	C	6: 149,385,498 (GRCm39)	F77S	probably benign	Het
Ccdc66	C	T	14: 27,220,448 (GRCm39)	R255H	probably benign	Het
Ckm	A	G	7: 19,153,372 (GRCm39)	D152G	probably benign	Het
Cpsf7	T	G	19: 10,518,082 (GRCm39)	S431A	possibly damaging	Het
Csmd1	T	C	8: 16,251,980 (GRCm39)	T959A	probably damaging	Het
Dkk4	T	C	8: 23,115,347 (GRCm39)	C66R	probably damaging	Het
Espl1	T	A	15: 102,232,465 (GRCm39)	W2058R	probably damaging	Het
Evi5l	A	T	8: 4,256,800 (GRCm39)		probably benign	Het
Fancg	A	T	4: 43,007,130 (GRCm39)		probably benign	Het
Flg2	A	T	3: 93,108,296 (GRCm39)	H108L	probably benign	Het
Fzd2	A	T	11: 102,496,293 (GRCm39)	T246S	probably benign	Het
Gm10428	T	G	11: 62,644,107 (GRCm39)		probably benign	Het
Gm1988	T	A	7: 38,821,627 (GRCm39)		noncoding transcript	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm7133	A	T	1: 97,171,201 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,717,962 (GRCm39)	N710S	probably benign	Het
Hcn2	T	C	10: 79,552,945 (GRCm39)	V148A	possibly damaging	Het
Hephl1	A	G	9: 14,995,579 (GRCm39)	L483S	possibly damaging	Het
Hinfp	C	T	9: 44,209,105 (GRCm39)	E338K	possibly damaging	Het
Hsd17b4	G	A	18: 50,306,776 (GRCm39)	D494N	probably damaging	Het
Ipo4	C	T	14: 55,866,277 (GRCm39)	V801M	probably benign	Het
Kcns2	A	C	15: 34,839,000 (GRCm39)	Y121S	probably benign	Het
Kif1c	T	A	11: 70,599,654 (GRCm39)	L462H	probably damaging	Het
Lrrk2	T	G	15: 91,648,851 (GRCm39)	V1615G	possibly damaging	Het
Naca	G	A	10: 127,876,011 (GRCm39)		probably benign	Het
Naip6	G	T	13: 100,436,724 (GRCm39)	Q600K	probably benign	Het
Ndufs2	A	G	1: 171,066,954 (GRCm39)	Y135H	probably damaging	Het
Nwd2	T	C	5: 63,965,114 (GRCm39)	V1566A	probably benign	Het
Or52d13	C	T	7: 103,110,086 (GRCm39)	V110I	possibly damaging	Het
Or52n4b	T	C	7: 108,144,551 (GRCm39)	I271T	probably damaging	Het
Or6c75	A	G	10: 129,336,779 (GRCm39)	M1V	probably null	Het
Or6c75	A	T	10: 129,336,763 (GRCm39)	L3F	probably benign	Het
Pcid2	C	T	8: 13,150,320 (GRCm39)		probably null	Het
Pld4	A	C	12: 112,730,551 (GRCm39)	I145L	probably benign	Het
Pogk	A	T	1: 166,236,580 (GRCm39)		probably benign	Het
Rhbg	C	T	3: 88,152,874 (GRCm39)	V280I	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rxfp3	A	G	15: 11,036,250 (GRCm39)	F374S	possibly damaging	Het
Son	A	G	16: 91,456,940 (GRCm39)		probably benign	Het
Specc1l	G	T	10: 75,112,755 (GRCm39)	R994L	probably damaging	Het
Tas2r135	T	A	6: 42,382,531 (GRCm39)	D23E	probably damaging	Het
Teddm2	A	T	1: 153,726,810 (GRCm39)	H21Q	probably benign	Het
Tet1	T	C	10: 62,675,737 (GRCm39)	T780A	possibly damaging	Het
Thbs1	T	A	2: 117,952,989 (GRCm39)	D866E	probably damaging	Het
Tmed4	A	G	11: 6,221,743 (GRCm39)	W198R	probably damaging	Het
Ttn	A	T	2: 76,749,575 (GRCm39)	C3825S	probably benign	Het
Uchl1	T	A	5: 66,833,754 (GRCm39)		probably benign	Het
Wsb2	A	G	5: 117,515,483 (GRCm39)	T363A	possibly damaging	Het
Zfp266	A	G	9: 20,417,332 (GRCm39)	Y19H	probably damaging	Het
Zkscan17	A	G	11: 59,378,086 (GRCm39)	C366R	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
R5685:Or5t17	UTSW	2	86,832,621 (GRCm39)	missense	probably benign	0.02
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'- ACTACTGGGATTCACAGATGATG -3'
(R):5'- TCGTAGCATGTAAAATTCCACCAG -3'

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

Posted On

2016-12-15