Mutagenetix > Incidental Mutation

Incidental Mutation 'R7537:Olfr385'

583673

Institutional Source

Beutler Lab

Gene Symbol

Olfr385

Ensembl Gene

ENSMUSG00000095095

Gene Name

olfactory receptor 385

Synonyms

MOR135-3, GA_x6K02T2P1NL-3760313-3759375

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7537 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73588302-73593008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73589268 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 157 (T157S)

Ref Sequence

ENSEMBL: ENSMUSP00000149293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071553] [ENSMUST00000215689]

AlphaFold

Q8VGT1

Predicted Effect

probably benign
Transcript: ENSMUST00000071553
AA Change: T157S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000071484
Gene: ENSMUSG00000095095
AA Change: T157S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	6.1e-55	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.7e-6	PFAM
Pfam:7tm_1	41	290	2.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215689
AA Change: T157S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 122,173,988	L2229P	possibly damaging	Het
Acaca	T	A	11: 84,260,634	M786K	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adap1	T	G	5: 139,293,173	E117D	possibly damaging	Het
Ap5z1	T	C	5: 142,477,298	S746P	probably benign	Het
Appl2	A	G	10: 83,617,428	I208T	possibly damaging	Het
Astn1	G	A	1: 158,667,638		probably null	Het
Astn1	A	G	1: 158,505,386	E346G	possibly damaging	Het
Atp23	T	A	10: 126,868,725	I180L	unknown	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cdh23	A	T	10: 60,384,945	I1340N	probably benign	Het
Cdh8	G	A	8: 99,098,885	Q493*	probably null	Het
Ces1g	T	C	8: 93,319,827	I357V	probably benign	Het
Ddx46	A	G	13: 55,650,478	D226G	probably damaging	Het
Eea1	C	T	10: 95,994,905	Q143*	probably null	Het
Erlin2	G	T	8: 27,031,772		probably null	Het
Fat3	T	A	9: 15,938,319	D3929V	probably damaging	Het
Flt3	T	C	5: 147,334,437	D898G	probably damaging	Het
Gm16519	A	G	17: 70,929,356	N100S	probably benign	Het
Gnl1	A	G	17: 35,988,536	H533R	probably damaging	Het
Gphn	A	G	12: 78,504,680	T301A	possibly damaging	Het
Herc2	C	T	7: 56,219,779	R4295*	probably null	Het
Insm2	T	C	12: 55,599,518	S16P	possibly damaging	Het
Jak2	C	T	19: 29,298,637	T778I	probably benign	Het
Lrriq3	A	G	3: 155,101,097	T128A	probably damaging	Het
Lst1	A	G	17: 35,186,944		probably null	Het
Magi1	G	T	6: 93,708,110	Y762*	probably null	Het
Man2b1	T	A	8: 85,090,965	C358*	probably null	Het
Mga	T	C	2: 119,935,551	V1432A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Morc2a	C	T	11: 3,683,566	Q587*	probably null	Het
Mrc2	T	C	11: 105,292,797	I4T	probably benign	Het
Muc16	C	A	9: 18,638,135	V5621F	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myo3b	A	G	2: 70,217,169	R340G	probably benign	Het
Nipal3	T	C	4: 135,490,937	Y34C	probably damaging	Het
Nktr	T	A	9: 121,749,279	D804E	unknown	Het
Nlrp4b	A	G	7: 10,714,889	M340V	probably benign	Het
Olfr1039	A	G	2: 86,131,264	V133A	probably benign	Het
Olfr680-ps1	A	T	7: 105,092,771	M16K	probably benign	Het
Olfr701	G	A	7: 106,818,374	C97Y	probably damaging	Het
Pard3	T	A	8: 127,610,582	N1271K	probably damaging	Het
Pcdhb11	A	T	18: 37,421,619	M1L	possibly damaging	Het
Pclo	T	C	5: 14,682,104	V3540A	unknown	Het
Pemt	A	G	11: 59,976,844	F154S	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rnpc3	G	T	3: 113,613,832	T376K	probably benign	Het
Rpe65	A	G	3: 159,604,609	Y143C	probably damaging	Het
Sbk2	T	C	7: 4,963,149	E12G	probably benign	Het
Slc2a5	T	C	4: 150,129,069	I106T	possibly damaging	Het
Snx13	A	G	12: 35,085,982	D92G	probably damaging	Het
Sorl1	C	T	9: 41,980,688	V1889I	probably benign	Het
Spag17	A	T	3: 99,939,247	N29I	possibly damaging	Het
Speg	T	C	1: 75,401,464	V878A	probably damaging	Het
Timp4	A	G	6: 115,250,460	S53P	probably damaging	Het
Tssk1	G	T	16: 17,895,084	E244D	probably benign	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Vmn2r85	A	T	10: 130,422,866	V440E	probably benign	Het
Wdr59	T	C	8: 111,490,369	D270G		Het
Zbbx	G	A	3: 75,085,519	P223S	probably damaging	Het
Zfp936	T	A	7: 43,189,815	C235*	probably null	Het
Zranb3	A	T	1: 128,032,847		probably null	Het

Other mutations in Olfr385

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01570:Olfr385	APN	11	73589383	missense	probably benign	0.34
IGL02045:Olfr385	APN	11	73589232	missense	probably damaging	1.00
IGL02324:Olfr385	APN	11	73589255	missense	probably benign	0.02
IGL02328:Olfr385	APN	11	73589255	missense	probably benign	0.02
IGL02562:Olfr385	APN	11	73589411	missense	probably benign
IGL02715:Olfr385	APN	11	73589121	missense	probably benign	0.00
IGL03182:Olfr385	APN	11	73589442	missense	probably benign	0.04
IGL03048:Olfr385	UTSW	11	73589005	missense	possibly damaging	0.56
R0346:Olfr385	UTSW	11	73589457	missense	probably damaging	1.00
R0675:Olfr385	UTSW	11	73589252	missense	probably damaging	1.00
R0751:Olfr385	UTSW	11	73589144	missense	probably benign	0.02
R1220:Olfr385	UTSW	11	73589377	nonsense	probably null
R1389:Olfr385	UTSW	11	73589543	missense	possibly damaging	0.88
R1484:Olfr385	UTSW	11	73589361	missense	possibly damaging	0.91
R1619:Olfr385	UTSW	11	73589292	missense	probably damaging	1.00
R2290:Olfr385	UTSW	11	73588919	missense	probably benign	0.37
R3713:Olfr385	UTSW	11	73588905	missense	probably damaging	1.00
R3781:Olfr385	UTSW	11	73589013	missense	probably damaging	1.00
R3781:Olfr385	UTSW	11	73589368	nonsense	probably null
R3782:Olfr385	UTSW	11	73589013	missense	probably damaging	1.00
R3782:Olfr385	UTSW	11	73589368	nonsense	probably null
R4402:Olfr385	UTSW	11	73589255	missense	probably benign	0.02
R4721:Olfr385	UTSW	11	73589447	missense	probably damaging	1.00
R5157:Olfr385	UTSW	11	73589723	missense	probably damaging	1.00
R5995:Olfr385	UTSW	11	73589250	missense	probably benign
R6373:Olfr385	UTSW	11	73588898	missense	probably benign	0.42
R6658:Olfr385	UTSW	11	73589048	missense	probably damaging	0.99
R7046:Olfr385	UTSW	11	73589732	missense	probably benign
R7096:Olfr385	UTSW	11	73589637	missense	probably benign	0.03
R7238:Olfr385	UTSW	11	73589735	start codon destroyed	probably null	0.99
R7548:Olfr385	UTSW	11	73588976	missense	possibly damaging	0.56
R7888:Olfr385	UTSW	11	73589528	missense	probably damaging	0.99
R7968:Olfr385	UTSW	11	73589328	missense	probably benign	0.05
R8923:Olfr385	UTSW	11	73589250	missense	probably benign
R9006:Olfr385	UTSW	11	73589210	missense	probably benign	0.40
R9281:Olfr385	UTSW	11	73589307	missense	probably benign
R9689:Olfr385	UTSW	11	73588860	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTATTCCCCGTGTAGATG -3'
(R):5'- CCAAGTTGCTGCAGAACATG -3'

Sequencing Primer
(F):5'- GGCTATTCCCCGTGTAGATGAAAAC -3'
(R):5'- GACACAACCATCTCCTATGTAGGTTG -3'

Posted On

2019-10-17