Mutagenetix > Incidental Mutation

Incidental Mutation 'R9029:Or5t7'

686917

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

068858-MU

Accession Numbers

Essential gene?

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

Stock #

R9029 (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 86506831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 282 (M282T)

Ref Sequence

ENSEMBL: ENSMUSP00000150094 (fasta)

Gene Model

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

AlphaFold

Q8VFL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000099878
AA Change: M282T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097463
Gene: ENSMUSG00000075175
AA Change: M282T

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 damaging
Transcript: ENSMUST00000213198
AA Change: M282T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	T	3: 96,591,460 (GRCm39)	K582M	probably benign	Het
Catsper3	T	G	13: 55,954,147 (GRCm39)	V305G	probably damaging	Het
Chd9	G	A	8: 91,683,198 (GRCm39)	R546Q	unknown	Het
Cnot6l	G	A	5: 96,246,136 (GRCm39)	T171I	probably benign	Het
Cpne3	A	G	4: 19,535,292 (GRCm39)	Y247H	possibly damaging	Het
Cramp1	C	G	17: 25,232,884 (GRCm39)	A39P	probably damaging	Het
Cyp26b1	A	T	6: 84,554,035 (GRCm39)	V194E	probably benign	Het
Dchs1	A	G	7: 105,402,919 (GRCm39)	S3208P	probably benign	Het
Dhrs3	A	G	4: 144,653,755 (GRCm39)	Y292C	probably damaging	Het
Eif3l	T	C	15: 78,968,412 (GRCm39)	V227A	probably damaging	Het
Eif4enif1	T	C	11: 3,174,716 (GRCm39)	V290A	probably damaging	Het
Epb41l4a	A	C	18: 34,012,042 (GRCm39)	Y159*	probably null	Het
Gm5460	T	A	14: 33,739,326 (GRCm39)	S103T		Het
Gsto1	A	T	19: 47,852,837 (GRCm39)	Y224F	probably benign	Het
Hpd	G	A	5: 123,313,973 (GRCm39)	T271M	probably damaging	Het
Ift74	T	C	4: 94,506,271 (GRCm39)	I18T	probably benign	Het
Kif12	A	G	4: 63,087,704 (GRCm39)	C260R	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Luc7l3	A	G	11: 94,188,676 (GRCm39)	V201A	unknown	Het
Mcrip2	T	C	17: 26,082,989 (GRCm39)	E146G	probably damaging	Het
Mctp1	T	A	13: 76,836,741 (GRCm39)	Y323N	probably benign	Het
Micu2	T	A	14: 58,156,363 (GRCm39)	I370F	probably damaging	Het
Mug2	T	A	6: 122,061,328 (GRCm39)	V1416E	probably damaging	Het
Mup3	T	C	4: 62,003,540 (GRCm39)	N110D	probably damaging	Het
Nav3	C	T	10: 109,699,613 (GRCm39)	D294N	possibly damaging	Het
Nphs2	G	A	1: 156,140,592 (GRCm39)	A110T	probably benign	Het
Or1a1	T	C	11: 74,086,563 (GRCm39)	I78T	possibly damaging	Het
Or6c215	G	T	10: 129,637,926 (GRCm39)	P156Q	probably damaging	Het
Otof	C	T	5: 30,527,419 (GRCm39)		probably null	Het
Pgrmc2	G	T	3: 41,037,105 (GRCm39)	R109S	probably benign	Het
Plb1	G	A	5: 32,439,079 (GRCm39)	V214I	probably damaging	Het
Ppp2r5d	C	T	17: 46,998,906 (GRCm39)	S52N	probably benign	Het
Rrp12	C	A	19: 41,859,718 (GRCm39)	E1082*	probably null	Het
Skint3	A	G	4: 112,111,151 (GRCm39)	E92G	probably damaging	Het
Slc12a1	C	G	2: 124,996,004 (GRCm39)	N52K	probably benign	Het
Smu1	A	G	4: 40,738,361 (GRCm39)	Y458H	probably damaging	Het
Spsb3	C	T	17: 25,110,506 (GRCm39)	P317S	unknown	Het
Ssc5d	A	T	7: 4,930,919 (GRCm39)	Q167L	probably damaging	Het
Ssh2	T	C	11: 77,328,454 (GRCm39)	V340A	probably damaging	Het
Stag3	G	A	5: 138,296,296 (GRCm39)	R453H	probably damaging	Het
Svil	T	A	18: 5,056,239 (GRCm39)	F371I	probably benign	Het
Tas2r140	A	C	6: 133,032,181 (GRCm39)	S192R	possibly damaging	Het
Tdrp	T	C	8: 14,003,840 (GRCm39)	I166V	possibly damaging	Het
Tgm3	C	A	2: 129,871,680 (GRCm39)	Q269K	probably benign	Het
Thsd7b	G	A	1: 130,087,426 (GRCm39)	C1181Y	probably damaging	Het
Tinag	A	T	9: 76,934,296 (GRCm39)		probably benign	Het
Tnrc6b	T	C	15: 80,763,179 (GRCm39)	V227A	possibly damaging	Het
Tox3	A	C	8: 90,996,864 (GRCm39)	L133R	possibly damaging	Het
Tshz1	A	T	18: 84,031,639 (GRCm39)	I923N	probably damaging	Het
Vps13c	T	A	9: 67,855,429 (GRCm39)	V2498D	probably damaging	Het
Vps41	T	A	13: 18,994,723 (GRCm39)		probably null	Het
Xylt2	T	C	11: 94,555,462 (GRCm39)	D850G	probably damaging	Het
Zfp229	T	A	17: 21,964,321 (GRCm39)	S184T	possibly damaging	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	Het
Zfp595	C	A	13: 67,468,989 (GRCm39)	M12I	probably benign	Het
Zfp750	T	C	11: 121,403,149 (GRCm39)	Q533R	probably benign	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
R7246:Or5t7	UTSW	2	86,507,633 (GRCm39)	missense	probably benign	0.11
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
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'- CAGGAGAGGCATTAACTAATACCTTTC -3'
(R):5'- ACACGCTCTACTGAAGGTAAAAG -3'

Sequencing Primer
(F):5'- CTTCTAATATGTCTACTGAAGATTG -3'
(R):5'- GAAAAGTCTTTTCTACATGTGGCTC -3'

Posted On

2021-11-19