Mutagenetix > Incidental Mutation

Incidental Mutation 'R4654:Olfr5'

351540

Institutional Source

Beutler Lab

Gene Symbol

Olfr5

Ensembl Gene

ENSMUSG00000096228

Gene Name

olfactory receptor 5

Synonyms

MOR103-8, GA_x6K02T2QGBW-3210997-3210059

MMRRC Submission

041914-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R4654 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6478322-6486941 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6481046 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 37 (T37A)

Ref Sequence

ENSEMBL: ENSMUSP00000147586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086318] [ENSMUST00000207658] [ENSMUST00000209866] [ENSMUST00000215302]

AlphaFold

Q60889

Predicted Effect

probably benign
Transcript: ENSMUST00000086318
AA Change: T37A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000083498
Gene: ENSMUSG00000096228
AA Change: T37A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	311	2.1e-50	PFAM
Pfam:7tm_1	45	294	6.9e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207658

Predicted Effect

probably benign
Transcript: ENSMUST00000209866
AA Change: T37A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000215302

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (98/101)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230113P08Rik	T	A	9: 35,908,991	C4S	probably damaging	Het
Adam3	A	T	8: 24,703,803	C398S	probably damaging	Het
Adamts10	A	G	17: 33,537,330	K316E	possibly damaging	Het
AI314180	A	T	4: 58,834,523	I785N	possibly damaging	Het
Ap1m1	T	C	8: 72,252,873	F238L	possibly damaging	Het
Aph1a	T	A	3: 95,895,776	D180E	probably benign	Het
Atp9b	A	G	18: 80,891,878	F201L	probably benign	Het
Btbd9	A	C	17: 30,485,587		probably benign	Het
C2cd5	T	C	6: 143,030,184	T768A	probably benign	Het
Casq1	C	T	1: 172,210,398		probably benign	Het
Cltc	A	T	11: 86,726,370	M351K	probably benign	Het
Cnp	A	G	11: 100,579,051	E271G	possibly damaging	Het
Col22a1	T	C	15: 71,973,695	D406G	possibly damaging	Het
Cylc2	T	C	4: 51,228,279	S117P	probably benign	Het
Cyp2b13	T	C	7: 26,061,647	L43P	probably damaging	Het
Cyp3a16	A	G	5: 145,436,457	V500A	probably benign	Het
Dclk2	T	C	3: 86,836,376	D262G	probably damaging	Het
Dcun1d3	A	C	7: 119,859,519	Y98D	probably damaging	Het
Ddx39b	A	G	17: 35,253,488	*429W	probably null	Het
Dennd5b	T	C	6: 149,006,837	N986S	probably damaging	Het
Dusp9	G	A	X: 73,640,772	R182Q	probably benign	Het
Edil3	A	G	13: 89,289,470	K397E	probably damaging	Het
Ehd1	T	C	19: 6,276,964		probably benign	Het
Fam13a	A	T	6: 58,987,167	H93Q	probably benign	Het
Fam207a	T	C	10: 77,490,026	M170V	possibly damaging	Het
Fam69a	T	C	5: 107,910,116		probably null	Het
Farp1	T	C	14: 121,276,304	I837T	possibly damaging	Het
Fbxl5	T	A	5: 43,765,429	I216F	probably damaging	Het
Gadl1	G	A	9: 115,941,340	E74K	probably damaging	Het
Gnpnat1	A	G	14: 45,380,979	V122A	probably damaging	Het
Hdac10	C	T	15: 89,126,833		probably benign	Het
Heatr5b	T	C	17: 78,820,701	S502G	possibly damaging	Het
Hr	C	A	14: 70,563,573	A695E	probably damaging	Het
Ift80	A	T	3: 68,918,537	I490N	possibly damaging	Het
Ipo11	A	G	13: 106,834,184		probably benign	Het
Iqch	T	G	9: 63,524,913	Y400S	probably damaging	Het
Jag2	C	T	12: 112,913,646	D702N	probably benign	Het
Kiss1r	T	A	10: 79,921,790	L326Q	probably damaging	Het
Lexm	C	A	4: 106,610,415	M341I	probably benign	Het
Lrrc42	A	T	4: 107,247,549	I73N	probably damaging	Het
Lrrc55	C	T	2: 85,196,536	G48D	possibly damaging	Het
Lrrk2	T	C	15: 91,765,681	S1674P	probably damaging	Het
Mctp2	A	G	7: 72,090,194	L816P	probably damaging	Het
Mipol1	A	T	12: 57,306,132	T86S	probably benign	Het
Mkrn3	C	T	7: 62,419,704	R113H	probably damaging	Het
Mmp1b	A	G	9: 7,370,849	V302A	probably benign	Het
Msc	A	T	1: 14,755,829		probably null	Het
Msmo1	C	A	8: 64,727,854	V9L	probably benign	Het
Nbeal2	G	A	9: 110,632,004	R1630C	probably damaging	Het
Nlgn1	C	T	3: 26,133,701	V12I	possibly damaging	Het
Npas3	T	C	12: 54,062,132		probably null	Het
Nr2e3	A	G	9: 59,949,072		probably benign	Het
Oca2	C	T	7: 56,328,812	A576V	probably benign	Het
Olfr1444	T	A	19: 12,862,232	C152*	probably null	Het
Olfr212	T	C	6: 116,516,448	Y224H	probably damaging	Het
Parp6	A	G	9: 59,641,100		probably null	Het
Phlpp1	A	T	1: 106,339,501	M715L	probably benign	Het
Pi4k2a	G	A	19: 42,113,105		probably null	Het
Pik3ap1	A	G	19: 41,327,909	S305P	probably damaging	Het
Plcg2	G	A	8: 117,504,315	M45I	probably benign	Het
Ppm1m	A	T	9: 106,196,402	L317H	probably damaging	Het
Ppp1r21	T	G	17: 88,558,799	M341R	probably benign	Het
Prdx3	A	G	19: 60,865,236	V217A	possibly damaging	Het
Ptk2b	A	G	14: 66,163,047	V773A	possibly damaging	Het
Raly	T	C	2: 154,857,456	V60A	probably damaging	Het
Reps1	A	G	10: 18,114,400	D420G	probably damaging	Het
Rev1	A	T	1: 38,079,256		probably benign	Het
Rgs2	T	G	1: 144,002,912		probably benign	Het
Rlf	G	T	4: 121,150,601	T394K	probably benign	Het
Rptn	A	T	3: 93,397,485	R708S	possibly damaging	Het
Sec23b	T	A	2: 144,572,574	M402K	probably benign	Het
Skiv2l	A	G	17: 34,849,946	C26R	probably damaging	Het
Smpd4	A	G	16: 17,642,128		probably benign	Het
Synj2	A	G	17: 6,013,538	E434G	probably damaging	Het
Tatdn2	T	A	6: 113,707,365	F64I	probably benign	Het
Tex21	A	C	12: 76,217,086	H177Q	probably benign	Het
Tln1	T	A	4: 43,535,954	Q2077L	probably null	Het
Tnrc6c	T	C	11: 117,720,971	V145A	probably benign	Het
Ttn	C	T	2: 76,786,592		probably benign	Het
Uggt2	A	G	14: 119,032,258	F954S	possibly damaging	Het
Ugt2a1	A	G	5: 87,486,224	S175P	probably damaging	Het
Vcl	A	G	14: 20,985,752		probably null	Het
Vegfa	A	T	17: 46,025,250		probably benign	Het
Vmn2r68	G	A	7: 85,233,561	Q328*	probably null	Het
Vmn2r7	A	G	3: 64,719,443	Y142H	probably benign	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Ybx3	G	T	6: 131,370,327	R282S	probably damaging	Het
Zfp566	T	C	7: 30,077,769	H329R	probably damaging	Het
Zfp786	T	C	6: 47,820,934	I357V	probably benign	Het
Zfr2	C	A	10: 81,251,249		probably null	Het

Other mutations in Olfr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Olfr5	APN	7	6480998	missense	probably benign
IGL02174:Olfr5	APN	7	6480439	missense	probably benign
IGL03260:Olfr5	APN	7	6480659	missense	probably damaging	0.99
IGL03411:Olfr5	APN	7	6480436	missense	probably benign	0.26
R1186:Olfr5	UTSW	7	6480542	missense	probably benign	0.00
R1381:Olfr5	UTSW	7	6481009	splice site	probably null
R1981:Olfr5	UTSW	7	6480932	missense	probably benign	0.29
R1982:Olfr5	UTSW	7	6480932	missense	probably benign	0.29
R3876:Olfr5	UTSW	7	6481132	missense	probably benign	0.01
R3907:Olfr5	UTSW	7	6480679	missense	probably damaging	1.00
R4422:Olfr5	UTSW	7	6481038	nonsense	probably null
R5605:Olfr5	UTSW	7	6480326	missense	probably benign	0.00
R6962:Olfr5	UTSW	7	6481009	missense	probably benign	0.07
R7524:Olfr5	UTSW	7	6480587	missense	probably benign	0.04
R7576:Olfr5	UTSW	7	6480331	missense	probably damaging	0.97
R8306:Olfr5	UTSW	7	6480869	missense	possibly damaging	0.83
R8947:Olfr5	UTSW	7	6480247	missense	probably benign
R8967:Olfr5	UTSW	7	6481012	missense	possibly damaging	0.95
R9562:Olfr5	UTSW	7	6480244	missense	probably null	0.60
Z1177:Olfr5	UTSW	7	6480873	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTCCATTCCATAGCCCCATGAG -3'
(R):5'- TACAGATGGAGAGGTCCCTG -3'

Sequencing Primer
(F):5'- TTCCATAGCCCCATGAGTAAGGTG -3'
(R):5'- GGTGTAAAGTACTGTGAACATCCCTC -3'

Posted On

2015-10-08