Mutagenetix > Incidental Mutation

Incidental Mutation 'R7246:Or5t7'

563519

Institutional Source

Beutler Lab

Gene Symbol

Or5t7

Ensembl Gene

ENSMUSG00000075175

Gene Name

olfactory receptor family 5 subfamily T member 17

Synonyms

GA_x6K02T2Q125-48168771-48167839, MOR179-2, Olfr1086

MMRRC Submission

045309-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.296) question?

Stock #

R7246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86506743-86507683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86507633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 15 (F15L)

Ref Sequence

ENSEMBL: ENSMUSP00000150094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099878] [ENSMUST00000213198]

AlphaFold

Q8VFL9

Predicted Effect

probably benign
Transcript: ENSMUST00000099878
AA Change: F15L

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097463
Gene: ENSMUSG00000075175
AA Change: F15L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	3.3e-49	PFAM
Pfam:7tm_1	39	288	1.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213198
AA Change: F15L

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (74/76)

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
4921524L21Rik	T	A	18: 6,635,902 (GRCm39)	S318R	probably damaging	Het
Abce1	A	T	8: 80,429,698 (GRCm39)	N74K	probably damaging	Het
Akr1b7	T	A	6: 34,392,404 (GRCm39)	D72E	probably benign	Het
Amer3	T	A	1: 34,625,809 (GRCm39)	I16N	possibly damaging	Het
Atp6v0d1	T	C	8: 106,257,606 (GRCm39)	N108D	probably damaging	Het
Avpr1b	T	C	1: 131,528,008 (GRCm39)	V177A	probably damaging	Het
B020011L13Rik	A	T	1: 117,728,969 (GRCm39)	K159*	probably null	Het
Bpifb1	T	C	2: 154,049,012 (GRCm39)	L172P	probably damaging	Het
Brca1	G	A	11: 101,414,204 (GRCm39)	T1310I	probably benign	Het
C130074G19Rik	C	A	1: 184,615,166 (GRCm39)	R8L	probably damaging	Het
Ccdc178	T	C	18: 22,242,811 (GRCm39)	H268R	possibly damaging	Het
Cdc42ep5	A	G	7: 4,154,473 (GRCm39)	V105A	possibly damaging	Het
Cntn4	T	C	6: 106,483,180 (GRCm39)	L245P	probably damaging	Het
Crtac1	T	C	19: 42,276,365 (GRCm39)	E521G	probably benign	Het
Cts7	T	A	13: 61,503,394 (GRCm39)	N190I	probably damaging	Het
Cul7	A	G	17: 46,972,993 (GRCm39)	E1368G	probably benign	Het
Dhrs7l	A	T	12: 72,666,266 (GRCm39)	M89K	possibly damaging	Het
Dpp10	G	A	1: 123,262,106 (GRCm39)	P759S	probably damaging	Het
Etf1	A	G	18: 35,064,964 (GRCm39)	S11P	unknown	Het
Exd2	G	T	12: 80,527,309 (GRCm39)	L167F	probably damaging	Het
Exoc8	T	A	8: 125,623,156 (GRCm39)	R404*	probably null	Het
Fat2	T	C	11: 55,187,208 (GRCm39)	T1213A	probably benign	Het
Fgfr2	T	C	7: 129,844,136 (GRCm39)			Het
Gtf3c1	T	A	7: 125,268,266 (GRCm39)			Het
Id2	T	A	12: 25,145,820 (GRCm39)	I64F	probably damaging	Het
Idh3a	G	T	9: 54,499,756 (GRCm39)	A75S	probably damaging	Het
Ift70a2	A	G	2: 75,808,023 (GRCm39)	L163P	probably damaging	Het
Itgb8	C	G	12: 119,131,785 (GRCm39)	G620A	probably damaging	Het
Itih5	T	A	2: 10,191,873 (GRCm39)		probably null	Het
Lamtor5	A	T	3: 107,189,336 (GRCm39)	D124V	probably damaging	Het
Mast4	T	C	13: 102,930,511 (GRCm39)	E439G	probably damaging	Het
Meltf	T	G	16: 31,713,680 (GRCm39)	L641R	probably damaging	Het
Mesd	G	T	7: 83,541,420 (GRCm39)		probably benign	Het
Nfia	C	T	4: 97,953,579 (GRCm39)	P439L	probably damaging	Het
Nptx1	A	T	11: 119,435,416 (GRCm39)		probably null	Het
Or1o3	A	T	17: 37,573,905 (GRCm39)	C217S	probably benign	Het
Or2j6	T	A	7: 139,980,061 (GRCm39)	R299S	probably benign	Het
Or7g29	G	A	9: 19,286,761 (GRCm39)	Q139*	probably null	Het
Pdss2	T	A	10: 43,248,172 (GRCm39)	H225Q	probably benign	Het
Pik3r5	C	A	11: 68,383,769 (GRCm39)	S529R	probably benign	Het
Plxna2	T	C	1: 194,326,590 (GRCm39)	S175P	possibly damaging	Het
Pom121l12	T	A	11: 14,549,551 (GRCm39)	W86R	probably benign	Het
Ppid	C	T	3: 79,498,740 (GRCm39)		probably benign	Het
Pramel7	T	A	2: 87,322,509 (GRCm39)	D85V	probably damaging	Het
Prune2	C	T	19: 17,098,732 (GRCm39)	T1412I	probably damaging	Het
Ptprd	T	C	4: 76,046,913 (GRCm39)	Y204C	probably damaging	Het
Rasgrp1	G	A	2: 117,168,835 (GRCm39)	R48*	probably null	Het
Rbks	A	G	5: 31,805,127 (GRCm39)	S246P	possibly damaging	Het
Rnf113a2	G	T	12: 84,464,451 (GRCm39)	M114I	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGCCGGCGGCG	7: 97,229,129 (GRCm39)		probably benign	Het
Scara3	A	G	14: 66,169,093 (GRCm39)	S175P	probably damaging	Het
Slc4a4	T	A	5: 89,270,262 (GRCm39)	L261Q	probably damaging	Het
Sparcl1	T	C	5: 104,233,023 (GRCm39)	I593V	probably benign	Het
Suclg1	C	T	6: 73,253,696 (GRCm39)	H115Y	unknown	Het
Syde2	T	A	3: 145,694,510 (GRCm39)	C253S	probably benign	Het
Tecrl	A	T	5: 83,427,182 (GRCm39)	I322N	probably damaging	Het
Tesmin	C	T	19: 3,456,965 (GRCm39)	A428V	probably damaging	Het
Thbd	T	A	2: 148,248,405 (GRCm39)	T488S	probably benign	Het
Tln2	A	T	9: 67,170,261 (GRCm39)	V876E	probably damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Unc13b	T	A	4: 43,172,910 (GRCm39)	I1246K	unknown	Het
Usp47	T	A	7: 111,715,116 (GRCm39)			Het
Vmn1r192	C	T	13: 22,371,944 (GRCm39)	R92Q	probably damaging	Het
Vmn2r111	T	C	17: 22,767,695 (GRCm39)	T601A	probably damaging	Het
Vmn2r51	A	G	7: 9,836,428 (GRCm39)	F118L	probably benign	Het
Vmn2r74	T	A	7: 85,605,173 (GRCm39)	I492L	probably benign	Het
Vmn2r93	C	T	17: 18,546,012 (GRCm39)	T628I	possibly damaging	Het
Vps13d	C	T	4: 144,882,620 (GRCm39)	R991K		Het
Wdr5b	T	C	16: 35,862,306 (GRCm39)	S142P	probably damaging	Het
Zfp428	G	T	7: 24,215,069 (GRCm39)		probably null	Het

Other mutations in Or5t7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Or5t7	APN	2	86,507,425 (GRCm39)	missense	probably benign	0.00
R0492:Or5t7	UTSW	2	86,506,834 (GRCm39)	missense	probably damaging	1.00
R0629:Or5t7	UTSW	2	86,506,873 (GRCm39)	missense	possibly damaging	0.65
R1114:Or5t7	UTSW	2	86,507,629 (GRCm39)	missense	possibly damaging	0.72
R1341:Or5t7	UTSW	2	86,507,507 (GRCm39)	missense	possibly damaging	0.86
R1868:Or5t7	UTSW	2	86,507,629 (GRCm39)	missense	possibly damaging	0.72
R2183:Or5t7	UTSW	2	86,507,380 (GRCm39)	missense	probably benign	0.21
R3159:Or5t7	UTSW	2	86,506,855 (GRCm39)	missense	probably benign	0.03
R4061:Or5t7	UTSW	2	86,507,162 (GRCm39)	missense	probably damaging	1.00
R4420:Or5t7	UTSW	2	86,507,263 (GRCm39)	missense	possibly damaging	0.95
R5514:Or5t7	UTSW	2	86,507,225 (GRCm39)	missense	probably benign	0.03
R7066:Or5t7	UTSW	2	86,507,570 (GRCm39)	missense	possibly damaging	0.95
R7077:Or5t7	UTSW	2	86,507,236 (GRCm39)	missense	possibly damaging	0.78
R7383:Or5t7	UTSW	2	86,507,263 (GRCm39)	missense	possibly damaging	0.95
R8062:Or5t7	UTSW	2	86,507,410 (GRCm39)	missense	probably benign	0.01
R8271:Or5t7	UTSW	2	86,507,218 (GRCm39)	missense	probably benign	0.12
R8417:Or5t7	UTSW	2	86,507,149 (GRCm39)	missense	probably damaging	1.00
R8927:Or5t7	UTSW	2	86,507,630 (GRCm39)	missense	probably benign	0.31
R8928:Or5t7	UTSW	2	86,507,630 (GRCm39)	missense	probably benign	0.31
R9029:Or5t7	UTSW	2	86,506,831 (GRCm39)	missense	probably damaging	1.00
R9342:Or5t7	UTSW	2	86,507,494 (GRCm39)	missense	probably damaging	1.00
R9384:Or5t7	UTSW	2	86,507,357 (GRCm39)	missense	probably benign	0.21
X0064:Or5t7	UTSW	2	86,507,543 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAGCAGGCGTCTACTGAGG -3'
(R):5'- CACTGTGTGGTTCTGCAATG -3'

Sequencing Primer
(F):5'- CGTCTACTGAGGACAGCAC -3'
(R):5'- CCATGTGATATGTACGCAAATTTGTG -3'

Posted On

2019-06-26