Mutagenetix > Incidental Mutation

Incidental Mutation 'R8158:Olfr60'

633369

Institutional Source

Beutler Lab

Gene Symbol

Olfr60

Ensembl Gene

ENSMUSG00000060112

Gene Name

olfactory receptor 60

Synonyms

IH6, GA_x6K02T2PBJ9-42496183-42495251, MOR253-6

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8158 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140343815-140361671 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140345249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 247 (I247V)

Ref Sequence

ENSEMBL: ENSMUSP00000147557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075470] [ENSMUST00000210932] [ENSMUST00000211031] [ENSMUST00000215023] [ENSMUST00000216027]

AlphaFold

Q8VGL4

Predicted Effect

probably benign
Transcript: ENSMUST00000075470
AA Change: I247V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000074916
Gene: ENSMUSG00000060112
AA Change: I247V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	1.2e-50	PFAM
Pfam:7TM_GPCR_Srsx	36	161	1.8e-8	PFAM
Pfam:7tm_1	42	291	2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210932
AA Change: I247V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000211031
AA Change: I247V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000215023
AA Change: I247V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000216027
AA Change: I247V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	T	A	8: 11,665,056	D46V	probably damaging	Het
Abl2	T	A	1: 156,642,069	S968T	probably benign	Het
Adcy8	T	C	15: 64,783,806	D608G	probably benign	Het
Adgb	C	T	10: 10,378,734	V1162M	probably benign	Het
Agrn	A	G	4: 156,173,889	V1040A	probably benign	Het
Amer3	A	T	1: 34,587,660	T327S	possibly damaging	Het
Apaf1	C	T	10: 91,059,658	C426Y	probably benign	Het
Bsn	T	C	9: 108,110,033	D2840G	unknown	Het
Camsap1	A	T	2: 25,944,428	C406*	probably null	Het
Cbr2	A	T	11: 120,730,297	M158K	probably damaging	Het
Ccdc105	G	C	10: 78,748,675	Q338E	probably benign	Het
Cgrrf1	T	C	14: 46,853,735	S239P	probably benign	Het
Clnk	C	A	5: 38,794,911		probably null	Het
Csad	T	C	15: 102,177,762	M445V	probably damaging	Het
Dnajb7	T	A	15: 81,407,399	N246Y	probably damaging	Het
Dok6	T	C	18: 89,473,947	I169V	probably benign	Het
Hist1h2bm	T	C	13: 21,722,461	Y122H	probably benign	Het
Il1f10	T	G	2: 24,291,255	I11R	possibly damaging	Het
Irs1	C	T	1: 82,289,533	V321M	probably damaging	Het
Itga9	T	C	9: 118,877,143	F938L	probably damaging	Het
Kif7	T	C	7: 79,704,694	D781G	probably damaging	Het
Klhl41	A	T	2: 69,671,161	N322I	probably damaging	Het
Krtap31-1	T	G	11: 99,908,075	C35G	possibly damaging	Het
Lsm11	A	T	11: 45,933,997	D234E	probably benign	Het
Med6	T	C	12: 81,573,903	K223R	probably benign	Het
Mfsd4b2	G	A	10: 39,922,068	T97I	probably benign	Het
Mrgpra1	A	T	7: 47,335,456	C158*	probably null	Het
Nr2e1	T	C	10: 42,582,885	T8A	probably benign	Het
Oas2	T	C	5: 120,749,773	M1V	probably null	Het
Olfr1048	T	C	2: 86,236,160	Y218C	probably damaging	Het
Olfr1132	T	A	2: 87,634,889	N286I	probably damaging	Het
Olfr307	T	A	7: 86,335,677	I240F	probably benign	Het
Olfr393	T	A	11: 73,847,871	M85L	probably benign	Het
Otof	C	T	5: 30,380,194	G1257D	probably benign	Het
Phf2	T	C	13: 48,817,760	T479A	probably benign	Het
Pik3c2a	T	C	7: 116,342,997	N1516S	probably benign	Het
Qrich1	C	A	9: 108,556,037	T622K	probably damaging	Het
Rasip1	A	G	7: 45,632,519	K482R	probably damaging	Het
Rgl2	T	C	17: 33,936,944	F698L	probably benign	Het
Scarb1	T	C	5: 125,303,137	D124G	probably benign	Het
Sclt1	A	G	3: 41,671,482	I350T	probably benign	Het
Sec23ip	T	G	7: 128,767,640	V696G	probably damaging	Het
Serpina1e	G	T	12: 103,951,095	T105K	probably benign	Het
Sin3a	A	G	9: 57,113,544		probably null	Het
Slc34a2	A	G	5: 53,060,840	T154A	probably damaging	Het
Slc9a3	T	C	13: 74,155,122	L178P	probably damaging	Het
Smarca2	A	C	19: 26,682,048	I913L	probably benign	Het
Tcea3	G	A	4: 136,273,716		probably null	Het
Tmcc1	T	A	6: 116,043,474	H339L		Het
Trpm2	G	T	10: 77,947,897	H247Q	probably damaging	Het
Tyr	T	A	7: 87,472,516	D356V	probably damaging	Het
Vmn2r54	A	T	7: 12,615,961	C565S	probably damaging	Het
Vmn2r82	A	C	10: 79,377,802	N74T	probably benign	Het
Zcchc4	T	C	5: 52,815,918	Y375H	probably damaging	Het
Zfhx3	T	A	8: 108,948,721	D2134E	possibly damaging	Het
Zfhx4	T	A	3: 5,398,950	Y1414*	probably null	Het
Zfp282	A	T	6: 47,890,692	E267D	possibly damaging	Het
Zfp442	A	T	2: 150,409,176	C269S	possibly damaging	Het
Zp3	T	A	5: 135,985,564	S246T	probably benign	Het

Other mutations in Olfr60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Olfr60	APN	7	140345210	missense	probably damaging	1.00
IGL03493:Olfr60	APN	7	140345153	missense	probably damaging	1.00
R0413:Olfr60	UTSW	7	140345195	missense	possibly damaging	0.94
R0652:Olfr60	UTSW	7	140345632	missense	probably damaging	1.00
R1848:Olfr60	UTSW	7	140345987	start codon destroyed	probably benign
R1908:Olfr60	UTSW	7	140345465	missense	probably benign	0.05
R1909:Olfr60	UTSW	7	140345465	missense	probably benign	0.05
R5133:Olfr60	UTSW	7	140345323	missense	probably damaging	1.00
R5320:Olfr60	UTSW	7	140345635	missense	probably benign	0.00
R5429:Olfr60	UTSW	7	140345273	missense	possibly damaging	0.67
R6595:Olfr60	UTSW	7	140345647	missense	probably damaging	1.00
R6621:Olfr60	UTSW	7	140345455	missense	probably damaging	1.00
R7300:Olfr60	UTSW	7	140345355	missense	probably damaging	1.00
R7409:Olfr60	UTSW	7	140345405	missense	probably benign	0.00
R7562:Olfr60	UTSW	7	140345230	missense	probably damaging	1.00
R7646:Olfr60	UTSW	7	140345951	missense	probably damaging	1.00
R8233:Olfr60	UTSW	7	140345498	missense	probably benign	0.01
R8238:Olfr60	UTSW	7	140345890	missense	probably damaging	1.00
R8338:Olfr60	UTSW	7	140345393	missense	probably benign	0.00
R9794:Olfr60	UTSW	7	140345570	nonsense	probably null
Z1088:Olfr60	UTSW	7	140345804	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- CAATGGCGAGCTTGACATC -3'
(R):5'- ACGGCTGTCATTCTGTGGAC -3'

Sequencing Primer
(F):5'- AATGGCGAGCTTGACATCTTTGTTC -3'
(R):5'- CTGTCATTCTGTGGACCCAAGG -3'

Posted On

2020-06-30