Mutagenetix > Incidental Mutation

Incidental Mutation 'R3104:Or5t9'

262936

Institutional Source

Beutler Lab

Gene Symbol

Or5t9

Ensembl Gene

ENSMUSG00000044213

Gene Name

olfactory receptor family 5 subfamily T member 9

Synonyms

Olfr1094, GA_x6K02T2Q125-48321457-48322449, MOR179-7

MMRRC Submission

040578-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R3104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86659020-86660166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86660035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 313 (M313T)

Ref Sequence

ENSEMBL: ENSMUSP00000148902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105211] [ENSMUST00000217509]

AlphaFold

Q8VF13

Predicted Effect

probably benign
Transcript: ENSMUST00000105211
AA Change: M313T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000100846
Gene: ENSMUSG00000044213
AA Change: M313T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	43	320	4.6e-52	PFAM
Pfam:7tm_1	53	316	3.5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217509
AA Change: M313T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (57/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ash1l	T	A	3: 88,961,693 (GRCm39)	V2355E	probably damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Bmp4	G	A	14: 46,623,438 (GRCm39)	A36V	probably benign	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Cdh9	T	C	15: 16,855,900 (GRCm39)	S647P	probably damaging	Het
Cntln	C	T	4: 84,875,406 (GRCm39)	T280M	possibly damaging	Het
Coch	A	G	12: 51,650,204 (GRCm39)	T398A	probably benign	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Csmd1	A	G	8: 17,077,247 (GRCm39)	Y137H	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246 (GRCm39)	L662F	probably benign	Het
Cyp19a1	T	C	9: 54,094,083 (GRCm39)	I60V	probably benign	Het
Cyp2c68	C	T	19: 39,722,757 (GRCm39)	V264I	probably benign	Het
Dbx1	A	T	7: 49,286,417 (GRCm39)	L16H	probably damaging	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Dnah7c	T	A	1: 46,837,439 (GRCm39)	Y3951N	probably damaging	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Fam124b	T	A	1: 80,190,748 (GRCm39)	I212F	probably damaging	Het
Fam187b	A	G	7: 30,676,665 (GRCm39)	D58G	probably benign	Het
Galnt4	T	C	10: 98,945,243 (GRCm39)	Y323H	probably benign	Het
Gfpt1	A	G	6: 87,034,628 (GRCm39)	D142G	probably benign	Het
Gm5174	A	G	10: 86,492,519 (GRCm39)		noncoding transcript	Het
Gtf2ird2	G	A	5: 134,237,756 (GRCm39)	D278N	probably benign	Het
Herc2	T	A	7: 55,785,103 (GRCm39)	D1480E	probably benign	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Itpr2	A	T	6: 146,214,335 (GRCm39)		probably null	Het
Lgr6	A	G	1: 134,928,210 (GRCm39)		probably null	Het
Lmod2	A	C	6: 24,604,471 (GRCm39)	K482T	probably damaging	Het
Magi3	A	G	3: 103,958,636 (GRCm39)	V483A	probably damaging	Het
Ncam2	A	G	16: 81,262,598 (GRCm39)		probably benign	Het
Nphs1	C	A	7: 30,166,965 (GRCm39)	S724*	probably null	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Pcdhgc5	A	G	18: 37,954,727 (GRCm39)	E667G	possibly damaging	Het
Plce1	C	T	19: 38,608,963 (GRCm39)	P424L	probably benign	Het
Plekhg5	C	T	4: 152,196,635 (GRCm39)	T694M	probably damaging	Het
Prkag2	T	A	5: 25,076,067 (GRCm39)	K233*	probably null	Het
Prune2	T	A	19: 17,096,520 (GRCm39)	S675T	probably damaging	Het
Sars1	C	T	3: 108,336,621 (GRCm39)	R302H	probably damaging	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,241,203 (GRCm39)	T74A	probably benign	Het
Sppl2b	A	G	10: 80,703,325 (GRCm39)	E529G	probably benign	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tmem51	T	C	4: 141,765,035 (GRCm39)	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,801,124 (GRCm39)	T204A	possibly damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Unc80	G	A	1: 66,662,450 (GRCm39)	V1768I	probably benign	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Usp29	T	A	7: 6,965,052 (GRCm39)	C298*	probably null	Het
Usp8	T	C	2: 126,600,432 (GRCm39)	V1050A	probably damaging	Het
Vmn1r38	T	C	6: 66,753,430 (GRCm39)	T229A	probably benign	Het
Yes1	T	C	5: 32,810,515 (GRCm39)	S195P	probably damaging	Het

Other mutations in Or5t9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02839:Or5t9	APN	2	86,659,712 (GRCm39)	missense	probably benign
IGL03053:Or5t9	APN	2	86,659,607 (GRCm39)	missense	possibly damaging	0.93
IGL03168:Or5t9	APN	2	86,659,607 (GRCm39)	missense	possibly damaging	0.93
IGL02799:Or5t9	UTSW	2	86,659,300 (GRCm39)	missense	probably damaging	0.99
R0511:Or5t9	UTSW	2	86,659,950 (GRCm39)	missense	probably benign	0.02
R0944:Or5t9	UTSW	2	86,659,281 (GRCm39)	missense	probably benign	0.01
R1065:Or5t9	UTSW	2	86,659,888 (GRCm39)	missense	probably damaging	0.98
R1476:Or5t9	UTSW	2	86,659,542 (GRCm39)	missense	probably benign	0.31
R1807:Or5t9	UTSW	2	86,659,445 (GRCm39)	missense	probably benign	0.03
R2865:Or5t9	UTSW	2	86,659,198 (GRCm39)	missense	probably benign	0.21
R2915:Or5t9	UTSW	2	86,659,570 (GRCm39)	missense	probably benign	0.02
R3055:Or5t9	UTSW	2	86,659,471 (GRCm39)	missense	possibly damaging	0.94
R4862:Or5t9	UTSW	2	86,659,876 (GRCm39)	missense	probably damaging	1.00
R4874:Or5t9	UTSW	2	86,659,598 (GRCm39)	missense	probably damaging	0.98
R5505:Or5t9	UTSW	2	86,659,845 (GRCm39)	missense	possibly damaging	0.88
R5507:Or5t9	UTSW	2	86,659,661 (GRCm39)	missense	probably damaging	1.00
R6318:Or5t9	UTSW	2	86,659,998 (GRCm39)	missense	possibly damaging	0.73
R6538:Or5t9	UTSW	2	86,659,869 (GRCm39)	missense	possibly damaging	0.55
R8058:Or5t9	UTSW	2	86,660,052 (GRCm39)	missense	probably benign	0.01
R8285:Or5t9	UTSW	2	86,659,443 (GRCm39)	missense	probably benign	0.03
R9563:Or5t9	UTSW	2	86,659,098 (GRCm39)	start codon destroyed	probably null	0.04

Predicted Primers

PCR Primer
(F):5'- CACCTTACAGGAGTGTCCATTTATC -3'
(R):5'- GTGCTTGAATCCATCCATAGC -3'

Sequencing Primer
(F):5'- CCAACTATGCCTTGGAAC -3'
(R):5'- GCTATATAAGTGATAGTCCTCATTGC -3'

Posted On

2015-02-05