Mutagenetix > Incidental Mutations

Incidental Mutation 'R1927:Olfr1364'

214980

Institutional Source

Beutler Lab

Gene Symbol

Olfr1364

Ensembl Gene

ENSMUSG00000046016

Gene Name

olfactory receptor 1364

Synonyms

GA_x6K02T2QHY8-11663090-11664010, MOR256-13

MMRRC Submission

039945-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R1927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21571813-21581759 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21574256 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 67 (F67L)

Ref Sequence

ENSEMBL: ENSMUSP00000149964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057453] [ENSMUST00000206526] [ENSMUST00000213912]

Predicted Effect

probably benign
Transcript: ENSMUST00000057453
AA Change: F67L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000059544
Gene: ENSMUSG00000046016
AA Change: F67L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	314	1.2e-48	PFAM
Pfam:7tm_1	47	296	3.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206526
AA Change: F67L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000213912
AA Change: F67L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,636,379	S31P	probably damaging	Het
Abca12	G	T	1: 71,244,840	H2524Q	probably damaging	Het
Acsl5	T	C	19: 55,278,154	V135A	probably benign	Het
Actl11	T	G	9: 107,929,537	L353R	possibly damaging	Het
Adcy6	G	T	15: 98,598,498		probably null	Het
B230104I21Rik	A	G	4: 154,341,237	I697T	probably damaging	Het
BC061237	G	A	14: 44,501,243	R33K	possibly damaging	Het
Brf1	C	A	12: 113,000,344	V5F	possibly damaging	Het
Chmp2a	C	T	7: 13,033,936	A21T	possibly damaging	Het
Cwh43	A	G	5: 73,453,074	N607S	probably benign	Het
Ddhd2	G	A	8: 25,741,661	L445F	possibly damaging	Het
Dicer1	C	A	12: 104,702,884	D1180Y	possibly damaging	Het
Dock5	A	T	14: 67,846,062	S133T	possibly damaging	Het
Dyx1c1	A	T	9: 72,960,627	I57L	probably damaging	Het
Efs	A	T	14: 54,917,163	C540S	possibly damaging	Het
Ehd4	C	T	2: 120,091,492	G428S	probably benign	Het
Eml1	C	T	12: 108,538,217	R812*	probably null	Het
Enpp1	C	T	10: 24,654,888	D557N	possibly damaging	Het
Fn3krp	A	G	11: 121,424,977	T65A	probably damaging	Het
Galnt5	A	G	2: 57,998,603	R72G	probably benign	Het
Gfod1	C	T	13: 43,200,860	R213H	possibly damaging	Het
Gm10518	A	G	1: 179,803,645		probably benign	Het
Gm5431	A	G	11: 48,889,255	F558S	probably damaging	Het
Got1	C	T	19: 43,515,680		probably null	Het
Gucy2g	C	T	19: 55,237,759	V242I	probably benign	Het
Hdgfl2	T	A	17: 56,099,874	V606E	possibly damaging	Het
Hoxa3	T	C	6: 52,169,999		probably benign	Het
Iqub	T	A	6: 24,491,671	I339L	probably benign	Het
Kdm4c	C	T	4: 74,345,483	T668I	probably benign	Het
Klhl32	T	C	4: 24,617,474	I592V	probably benign	Het
Mfsd12	G	T	10: 81,362,087	M296I	probably benign	Het
Mfsd4b4	C	T	10: 39,892,441	A219T	probably damaging	Het
Mrpl52	T	C	14: 54,426,957	S9P	possibly damaging	Het
Nbr1	A	G	11: 101,567,214	Y273C	possibly damaging	Het
Ncf4	G	T	15: 78,260,646	G217V	probably damaging	Het
Neo1	T	C	9: 58,990,385	E96G	probably benign	Het
Nid2	T	A	14: 19,768,276	N279K	probably damaging	Het
Nr5a2	A	G	1: 136,944,994	Y56H	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nynrin	A	G	14: 55,863,592	T280A	probably benign	Het
Olfr1367	T	A	13: 21,346,946	I6N	probably benign	Het
Olfr1463	T	C	19: 13,235,029	Y260H	probably damaging	Het
Olfr545	A	G	7: 102,494,059	S239P	possibly damaging	Het
Olfr97	A	G	17: 37,231,543	Y276H	probably damaging	Het
Otog	G	A	7: 46,246,283	C107Y	probably damaging	Het
Ptprn	A	G	1: 75,254,122	V565A	probably benign	Het
Rbm6	T	G	9: 107,852,903	D182A	probably damaging	Het
Rhbg	A	G	3: 88,244,552	F400L	probably benign	Het
Rpl22l1	T	A	3: 28,806,589	N33K	possibly damaging	Het
Rtp1	T	A	16: 23,431,209	I108N	probably damaging	Het
Sema6b	A	T	17: 56,132,797	F15I	probably benign	Het
Sirpa	C	T	2: 129,616,376	T304I	possibly damaging	Het
Slc22a29	A	G	19: 8,207,066	I257T	probably benign	Het
Slc41a1	T	C	1: 131,841,200	I256T	probably damaging	Het
Smg6	A	G	11: 75,142,848	K1208R	probably damaging	Het
Sorcs1	G	T	19: 50,222,195	P744Q	probably damaging	Het
Sptbn5	T	C	2: 120,070,462	T213A	probably benign	Het
St18	A	G	1: 6,802,712	T224A	probably benign	Het
Stat3	T	C	11: 100,894,829	N465S	probably damaging	Het
Stmn2	T	A	3: 8,545,576	M40K	probably benign	Het
Tespa1	A	G	10: 130,348,239	D63G	probably benign	Het
Thrb	T	A	14: 18,008,674	C133S	probably damaging	Het
Tmem25	C	T	9: 44,796,483	V172M	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trhde	T	A	10: 114,800,849	Y151F	probably damaging	Het
Trp53bp2	A	G	1: 182,452,664	T912A	probably damaging	Het
Unc79	C	A	12: 103,169,692	A2269E	probably damaging	Het
Zfp507	C	T	7: 35,793,725	R631Q	probably damaging	Het
Zfp758	T	G	17: 22,375,842	S436R	probably damaging	Het
Zfp791	G	T	8: 85,110,683	T184K	probably benign	Het
Znrf3	A	G	11: 5,281,062	V817A	probably benign	Het

Other mutations in Olfr1364

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01485:Olfr1364	APN	13	21574457	splice site	probably null
IGL01925:Olfr1364	APN	13	21574171	missense	possibly damaging	0.70
R0540:Olfr1364	UTSW	13	21573778	missense	probably benign	0.01
R1268:Olfr1364	UTSW	13	21574328	missense	probably benign	0.15
R1451:Olfr1364	UTSW	13	21574287	nonsense	probably null
R1572:Olfr1364	UTSW	13	21574310	missense	possibly damaging	0.53
R1781:Olfr1364	UTSW	13	21573541	missense	probably damaging	0.98
R4611:Olfr1364	UTSW	13	21573574	missense	probably damaging	0.98
R4750:Olfr1364	UTSW	13	21573743	missense	possibly damaging	0.48
R5493:Olfr1364	UTSW	13	21573872	missense	probably damaging	1.00
R7192:Olfr1364	UTSW	13	21574369	missense	probably damaging	1.00
R7611:Olfr1364	UTSW	13	21574318	missense	probably benign	0.06
R8017:Olfr1364	UTSW	13	21574478	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAACGGTCGTAAGCCATGAC -3'
(R):5'- ATGGCTTTTCTGCATGCATG -3'

Sequencing Primer
(F):5'- GTCGTAAGCCATGACAGCCAG -3'
(R):5'- TGCATGCACTGACCATTAATGC -3'

Posted On

2014-07-14