Mutagenetix > Incidental Mutation

Incidental Mutation 'R6318:Or5t9'

510260

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

044473-MU

Accession Numbers

Essential gene?

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

Stock #

R6318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86659020-86660166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86659998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 301 (I301V)

Ref Sequence

ENSEMBL: ENSMUSP00000148902 (fasta)

Gene Model

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

AlphaFold

Q8VF13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105211
AA Change: I301V

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100846
Gene: ENSMUSG00000044213
AA Change: I301V

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

possibly damaging
Transcript: ENSMUST00000217509
AA Change: I301V

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.3%

Validation Efficiency

99% (74/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,270,474 (GRCm39)	T13A	possibly damaging	Het
Abcg4	T	C	9: 44,186,645 (GRCm39)	T500A	probably benign	Het
Adcy4	T	A	14: 56,006,681 (GRCm39)	I1051F	probably damaging	Het
Adgrg6	A	T	10: 14,343,241 (GRCm39)	N235K	probably benign	Het
Aldh3a2	A	C	11: 61,153,245 (GRCm39)	Y160*	probably null	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Armt1	T	C	10: 4,400,859 (GRCm39)	M202T	probably benign	Het
Brd2	C	A	17: 34,331,872 (GRCm39)	V349F	probably damaging	Het
Btnl10	A	T	11: 58,817,691 (GRCm39)		probably benign	Het
Ccdc178	A	G	18: 22,253,591 (GRCm39)	V216A	possibly damaging	Het
Ccdc85c	A	T	12: 108,240,968 (GRCm39)	L142Q	unknown	Het
Cdc27	A	T	11: 104,419,520 (GRCm39)	S172T	probably damaging	Het
Ceacam14	T	C	7: 17,548,237 (GRCm39)	I109T	probably damaging	Het
Ces5a	C	T	8: 94,261,211 (GRCm39)	G72E	probably damaging	Het
Cfb	A	G	17: 35,080,800 (GRCm39)	Y66H	possibly damaging	Het
Clec14a	G	A	12: 58,315,001 (GRCm39)	P207L	probably damaging	Het
Clec16a	G	A	16: 10,448,652 (GRCm39)	R599H	probably damaging	Het
Csmd1	A	T	8: 15,953,212 (GRCm39)	I3423N	probably damaging	Het
Cyp4a29	C	A	4: 115,107,396 (GRCm39)	N243K	probably benign	Het
Ddx59	T	C	1: 136,344,610 (GRCm39)	F94L	probably damaging	Het
Dusp3	A	C	11: 101,877,697 (GRCm39)	V19G	probably benign	Het
Fat3	T	C	9: 15,828,280 (GRCm39)		probably benign	Het
Fgfr4	T	A	13: 55,313,921 (GRCm39)	V545E	probably damaging	Het
Fxn	G	T	19: 24,257,790 (GRCm39)	A47D	probably damaging	Het
Gdpgp1	A	T	7: 79,888,898 (GRCm39)	I310F	possibly damaging	Het
Gm7210	A	T	7: 11,328,040 (GRCm39)		noncoding transcript	Het
Grm7	G	T	6: 111,335,836 (GRCm39)	C749F	probably damaging	Het
Hps4	T	G	5: 112,494,495 (GRCm39)	V26G	probably damaging	Het
Igf1r	A	G	7: 67,814,981 (GRCm39)	D294G	probably benign	Het
Immp1l	T	C	2: 105,761,172 (GRCm39)	F27S	probably benign	Het
Kcnk3	T	A	5: 30,779,930 (GRCm39)	C327S	probably damaging	Het
Kif13a	T	A	13: 46,968,683 (GRCm39)		probably null	Het
Krtap5-4	T	C	7: 141,857,827 (GRCm39)	S166P	unknown	Het
Lyst	G	A	13: 13,917,896 (GRCm39)	D3319N	possibly damaging	Het
Malrd1	T	G	2: 16,047,078 (GRCm39)	S1735A	unknown	Het
Myh4	A	G	11: 67,134,268 (GRCm39)	T308A	probably benign	Het
Myh8	A	T	11: 67,190,167 (GRCm39)	Q1269L	probably benign	Het
Myo15b	G	A	11: 115,781,657 (GRCm39)	V1367I	probably damaging	Het
Nae1	T	C	8: 105,250,269 (GRCm39)	D208G	probably benign	Het
Nelfe	T	A	17: 35,073,432 (GRCm39)	V296D	probably damaging	Het
Nkapd1	T	C	9: 50,518,761 (GRCm39)	R284G	probably benign	Het
Npepps	A	T	11: 97,109,374 (GRCm39)	V734E	probably damaging	Het
Ogdh	A	G	11: 6,299,390 (GRCm39)	N752S	probably damaging	Het
Or11i1	T	C	3: 106,729,503 (GRCm39)	D124G	probably damaging	Het
Or3a1b	A	T	11: 74,012,547 (GRCm39)	Q144L	possibly damaging	Het
Or8b1	T	C	9: 38,399,673 (GRCm39)	M116T	probably benign	Het
Otof	C	A	5: 30,571,888 (GRCm39)	G171V	probably damaging	Het
Phtf2	A	T	5: 21,006,939 (GRCm39)	V208D	probably damaging	Het
Pkn1	T	A	8: 84,410,220 (GRCm39)	T340S	probably damaging	Het
Plcd4	C	T	1: 74,602,753 (GRCm39)	L668F	possibly damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prss50	A	T	9: 110,690,367 (GRCm39)	D170V	probably damaging	Het
Ptprg	T	C	14: 12,237,118 (GRCm38)	V604A	probably damaging	Het
Rab33b	T	C	3: 51,400,826 (GRCm39)	V100A	probably damaging	Het
Rbm26	T	A	14: 105,368,971 (GRCm39)	D736V	probably damaging	Het
Rela	C	A	19: 5,696,992 (GRCm39)	P400T	probably benign	Het
Rpusd4	T	C	9: 35,179,334 (GRCm39)	L50P	probably damaging	Het
Scn10a	A	C	9: 119,456,181 (GRCm39)	Y1214D	probably damaging	Het
Sema3c	A	G	5: 17,877,430 (GRCm39)	E179G	probably damaging	Het
Skint5	T	A	4: 113,374,330 (GRCm39)	D1253V	unknown	Het
Sp4	G	T	12: 118,201,913 (GRCm39)	P771H	probably damaging	Het
Sphkap	T	A	1: 83,256,099 (GRCm39)	Y263F	probably damaging	Het
Ssbp1	G	A	6: 40,453,687 (GRCm39)	V78I	probably benign	Het
St3gal6	A	G	16: 58,306,769 (GRCm39)	I87T	probably benign	Het
Tango6	T	A	8: 107,545,129 (GRCm39)	D997E	probably benign	Het
Tpr	C	T	1: 150,321,639 (GRCm39)	P2265S	possibly damaging	Het
Ttc7b	A	T	12: 100,291,936 (GRCm39)	F212Y	probably damaging	Het
Ubc	A	G	5: 125,465,324 (GRCm39)	M1T	probably null	Het
Vill	G	C	9: 118,892,716 (GRCm39)	Q376H	probably benign	Het
Yes1	T	C	5: 32,809,030 (GRCm39)	I132T	possibly damaging	Het
Ythdc2	A	G	18: 44,993,444 (GRCm39)	T830A	probably benign	Het
Zbtb41	T	A	1: 139,358,044 (GRCm39)	F451I	possibly damaging	Het
Zfp995	C	T	17: 22,099,493 (GRCm39)	C247Y	probably benign	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
R3104:Or5t9	UTSW	2	86,660,035 (GRCm39)	missense	probably benign	0.03
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
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'- ATCACCATCCTGATTGTCCTGG -3'
(R):5'- CTAACATTTTAGAACATGGCCACC -3'

Sequencing Primer
(F):5'- TCTTAAGATGAATTCTGCAGAAGGG -3'
(R):5'- TTTAGAACATGGCCACCATTAAC -3'

Posted On

2018-04-02