Mutagenetix > Incidental Mutation

Incidental Mutation 'R7212:Olfr1354'

561159

Institutional Source

Beutler Lab

Gene Symbol

Olfr1354

Ensembl Gene

ENSMUSG00000094673

Gene Name

olfactory receptor 1354

Synonyms

GA_x6K02T2QGN0-2895081-2894349, EG257869, MOR139-5, MOR185-8, MOR139-7, GA_x6K02T03FR9-4826-3919, Olfr233-ps1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R7212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78913171-78920399 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78917505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 222 (I222L)

Ref Sequence

ENSEMBL: ENSMUSP00000144801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075859] [ENSMUST00000204587] [ENSMUST00000217073]

AlphaFold

E9Q5G9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075859
AA Change: I222L

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093126
Gene: ENSMUSG00000094673
AA Change: I222L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	2.4e-49	PFAM
Pfam:7tm_1	42	291	3.8e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204587
AA Change: I222L

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217073
AA Change: I222L

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	C	T	6: 83,161,672	A193V	probably benign	Het
4932438A13Rik	C	A	3: 37,048,009	N1363K		Het
Aatf	C	T	11: 84,449,180	R435Q	probably damaging	Het
Abca13	A	G	11: 9,298,854	H2867R	probably benign	Het
Abcd2	C	T	15: 91,159,123	A621T	possibly damaging	Het
Actl11	T	A	9: 107,928,657	S60T	probably damaging	Het
Adam28	T	A	14: 68,637,397	N277I	probably damaging	Het
Adamts13	T	A	2: 27,006,314	C1240S	probably damaging	Het
Arhgap27	C	T	11: 103,360,755	R49Q	probably damaging	Het
Arhgap8	T	G	15: 84,745,792	L108R	probably null	Het
Armc10	T	C	5: 21,660,583	S209P	probably damaging	Het
Atp6v0a1	T	C	11: 101,043,957	F617L	probably benign	Het
Bap1	T	A	14: 31,251,623	N2K	probably damaging	Het
Cass4	T	A	2: 172,427,186	L396*	probably null	Het
Ccdc40	A	G	11: 119,264,444	Q1170R	probably damaging	Het
Cdhr5	C	T	7: 141,272,659	R348H	probably damaging	Het
Cenpj	A	G	14: 56,552,652	S647P	probably benign	Het
Chordc1	T	A	9: 18,295,351		probably null	Het
Chordc1	T	C	9: 18,301,012	S41P	probably damaging	Het
Ckm	T	C	7: 19,415,053		probably null	Het
Clca1	A	C	3: 145,005,966	I756S	probably damaging	Het
Clcn1	T	C	6: 42,291,389	V165A	possibly damaging	Het
Clec4a4	T	A	6: 122,991,745		probably null	Het
Cog7	T	C	7: 121,977,314	K130E	probably damaging	Het
Coq7	A	G	7: 118,510,048	I259T	unknown	Het
Cp	T	C	3: 19,974,966	S536P	probably damaging	Het
Cyp2d10	T	A	15: 82,404,246		probably null	Het
Dcst2	A	G	3: 89,366,300	I162V	probably benign	Het
Dennd4c	A	G	4: 86,802,991	E630G	probably damaging	Het
Dpt	A	T	1: 164,796,915	I62F	probably benign	Het
Ednrb	T	A	14: 103,843,008	I157F	probably damaging	Het
Ext1	A	T	15: 53,345,162	W68R	probably benign	Het
Fgf4	A	G	7: 144,862,786	K152E	probably benign	Het
G530012D18Rik	A	T	1: 85,577,143	T90S	unknown	Het
Galnt17	T	C	5: 130,964,111	T322A	possibly damaging	Het
Gcm1	A	T	9: 78,059,643	D48V	possibly damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gm49358	G	T	10: 86,825,207	R353L	probably damaging	Het
Golga4	A	G	9: 118,536,840	E320G	possibly damaging	Het
Herc3	T	C	6: 58,918,773	I1002T	probably damaging	Het
Hip1r	T	A	5: 123,973,782	V7E	possibly damaging	Het
Hipk1	G	A	3: 103,777,610	Q230*	probably null	Het
Igsf9b	C	T	9: 27,331,696	P726L	probably damaging	Het
Itgb6	T	C	2: 60,634,654	I345V	probably damaging	Het
Lhx4	G	T	1: 155,724,953	Q29K	probably benign	Het
Manba	A	G	3: 135,567,635	T777A	probably benign	Het
Mcm3ap	A	G	10: 76,501,311	D1360G	probably benign	Het
Meltf	T	A	16: 31,890,814		probably null	Het
Mmp14	T	G	14: 54,435,879	D81E	probably damaging	Het
Naalad2	T	C	9: 18,364,041		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Olfr881	T	A	9: 37,992,957	M150K	possibly damaging	Het
Pacs2	A	G	12: 113,061,692	D488G	possibly damaging	Het
Psg23	A	G	7: 18,607,139	S397P	probably benign	Het
Rfpl4	C	A	7: 5,110,660	R174L	probably damaging	Het
Runx3	T	A	4: 135,152,779	I3N	probably damaging	Het
Scn5a	A	T	9: 119,543,385	N214K	possibly damaging	Het
Slc27a1	T	C	8: 71,584,448	I412T	probably damaging	Het
Sptbn4	T	G	7: 27,416,785	T530P	probably benign	Het
Tex15	A	T	8: 33,570,826	R95*	probably null	Het
Tex15	T	C	8: 33,572,995	S818P	probably damaging	Het
Tmod1	A	T	4: 46,093,951	K221*	probably null	Het
Tpm3	G	A	3: 90,091,054	D272N	probably benign	Het
Trpm6	T	C	19: 18,853,791	V1340A	probably benign	Het
Ugt2b5	A	T	5: 87,125,272	C512S	probably benign	Het
Vmn2r82	A	T	10: 79,379,434	E417V	probably benign	Het
Wfdc11	T	C	2: 164,664,446	N60S	probably benign	Het
Zfp217	A	T	2: 170,114,152	S975R	probably benign	Het
Zfr	C	T	15: 12,146,223	Q287*	probably null	Het

Other mutations in Olfr1354

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02903:Olfr1354	APN	10	78917416	missense	probably damaging	0.99
IGL02962:Olfr1354	APN	10	78916939	missense	probably damaging	1.00
IGL03032:Olfr1354	APN	10	78917637	missense	probably benign	0.21
PIT4495001:Olfr1354	UTSW	10	78916987	missense	probably benign
R0268:Olfr1354	UTSW	10	78917605	missense	probably damaging	0.99
R0359:Olfr1354	UTSW	10	78917343	missense	probably benign	0.00
R0382:Olfr1354	UTSW	10	78917126	nonsense	probably null
R1895:Olfr1354	UTSW	10	78916924	missense	probably damaging	1.00
R1946:Olfr1354	UTSW	10	78916924	missense	probably damaging	1.00
R2035:Olfr1354	UTSW	10	78917587	missense	possibly damaging	0.86
R3853:Olfr1354	UTSW	10	78916947	missense	probably damaging	1.00
R4756:Olfr1354	UTSW	10	78917527	missense	probably damaging	0.99
R5326:Olfr1354	UTSW	10	78917586	missense	possibly damaging	0.86
R5607:Olfr1354	UTSW	10	78917099	missense	possibly damaging	0.93
R7070:Olfr1354	UTSW	10	78917268	missense	probably benign
R7088:Olfr1354	UTSW	10	78917759	missense	probably benign	0.00
R7348:Olfr1354	UTSW	10	78917562	missense	probably damaging	1.00
R7386:Olfr1354	UTSW	10	78916843	start codon destroyed	probably null	0.98
R7847:Olfr1354	UTSW	10	78916896	missense	probably benign	0.02
R8976:Olfr1354	UTSW	10	78917584	missense	possibly damaging	0.79
R9267:Olfr1354	UTSW	10	78916969	missense	probably damaging	1.00
R9502:Olfr1354	UTSW	10	78917725	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTTCTTACAGAGCTCAATTG -3'
(R):5'- TAAAGGGGTTCAGCATCGGG -3'

Sequencing Primer
(F):5'- GAGCTCAATTGTGCTACAGTTGACC -3'
(R):5'- GGTGACCACAGTATACATCACAGAG -3'

Posted On

2019-06-26