Mutagenetix > Incidental Mutations

Incidental Mutation 'R1263:Olfr1385'

151670

Institutional Source

Beutler Lab

Gene Symbol

Olfr1385

Ensembl Gene

ENSMUSG00000059729

Gene Name

olfactory receptor 1385

Synonyms

MOR256-42P, MOR256-41P, Olfr1549-ps1, GA_x6K02T2QP88-5941817-5940888, MOR256-42P

MMRRC Submission

039330-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49489070-49497496 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49495021 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 163 (M163L)

Ref Sequence

ENSEMBL: ENSMUSP00000150035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071807] [ENSMUST00000214948]

Predicted Effect

probably benign
Transcript: ENSMUST00000071807
AA Change: M163L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071710
Gene: ENSMUSG00000059729
AA Change: M163L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	2.1e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	214	9.5e-6	PFAM
Pfam:7tm_1	41	289	2.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214948
AA Change: M163L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216450

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,278	Y207*	probably null	Het
Abca8b	A	C	11: 109,941,607	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 103,103,851		probably null	Het
Atp13a4	T	A	16: 29,471,953	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,462,522	F132C	probably damaging	Het
Btaf1	A	T	19: 36,956,524	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,747,353	Y590*	probably null	Het
Chil1	G	A	1: 134,189,242	E315K	probably benign	Het
Col6a6	T	A	9: 105,709,489	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,104,711	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,574,711	T396A	probably benign	Het
Dnah6	A	T	6: 73,144,965	I1373N	probably damaging	Het
Dopey2	C	A	16: 93,777,386	H1598N	probably benign	Het
Erich4	T	A	7: 25,615,134	K118M	probably damaging	Het
Gkap1	A	T	13: 58,255,773	V179E	probably benign	Het
Gpr107	T	G	2: 31,178,255	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,758,530	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,479,378	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,676,966	H266Q	probably benign	Het
Krt71	C	T	15: 101,735,466	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,682,968	T423A	probably benign	Het
Mical3	T	C	6: 120,952,469	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 71,097,122	I1174T	probably benign	Het
Npas2	C	A	1: 39,334,768	Q450K	possibly damaging	Het
Nrp1	T	A	8: 128,468,389	I442N	probably damaging	Het
Olfr338	T	A	2: 36,376,994	S73T	probably damaging	Het
Palld	TGCGTAGCG	TGCG	8: 61,513,457		probably null	Het
Pih1d3	A	T	1: 31,223,215	I93F	probably damaging	Het
Pold3	T	A	7: 100,119,683	Q36L	possibly damaging	Het
Polg	T	C	7: 79,459,786	T428A	probably benign	Het
Rfx7	T	A	9: 72,577,047	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,112,149	M1R	probably null	Het
Scn10a	T	A	9: 119,617,733	T1410S	probably damaging	Het
Serpinb13	T	A	1: 107,000,736	V362E	probably damaging	Het
Setdb1	T	C	3: 95,327,611	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,320,638	K91R	probably benign	Het
Shprh	A	G	10: 11,159,530	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Styxl1	G	T	5: 135,753,883	S117R	probably damaging	Het
Synj2	T	C	17: 6,019,359	F150L	probably damaging	Het
Tep1	C	A	14: 50,845,513	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,630,655	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,666,870	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,622,562	I115F	possibly damaging	Het
Trim38	A	G	13: 23,791,134	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,207,321	V44D	probably benign	Het
Vars2	A	G	17: 35,661,609	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,208,322	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,050,708	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,581,606	Y762C	probably benign	Het
Vps13d	T	A	4: 145,170,348	Q334L	probably benign	Het
Zfp277	A	T	12: 40,364,165	I227N	probably damaging	Het

Other mutations in Olfr1385

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01722:Olfr1385	APN	11	49494966	missense	probably damaging	0.99
IGL02098:Olfr1385	APN	11	49495397	missense	probably damaging	1.00
IGL03206:Olfr1385	APN	11	49494709	missense	probably benign	0.05
IGL03402:Olfr1385	APN	11	49495046	missense	probably benign
R0412:Olfr1385	UTSW	11	49494767	missense	probably damaging	1.00
R1371:Olfr1385	UTSW	11	49494823	missense	probably damaging	1.00
R1488:Olfr1385	UTSW	11	49495118	missense	probably benign	0.07
R1835:Olfr1385	UTSW	11	49494670	missense	probably damaging	1.00
R1923:Olfr1385	UTSW	11	49495304	missense	probably damaging	0.97
R2290:Olfr1385	UTSW	11	49495030	missense	probably benign
R3738:Olfr1385	UTSW	11	49495460	missense	possibly damaging	0.56
R3739:Olfr1385	UTSW	11	49495460	missense	possibly damaging	0.56
R4034:Olfr1385	UTSW	11	49495460	missense	possibly damaging	0.56
R4193:Olfr1385	UTSW	11	49495307	missense	probably damaging	1.00
R4406:Olfr1385	UTSW	11	49494917	missense	probably benign	0.01
R5239:Olfr1385	UTSW	11	49494728	missense	possibly damaging	0.93
R6713:Olfr1385	UTSW	11	49494957	missense	probably damaging	1.00
R6861:Olfr1385	UTSW	11	49494805	missense	probably benign	0.00
R7916:Olfr1385	UTSW	11	49494716	missense	probably benign
Z1176:Olfr1385	UTSW	11	49495067	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACTGTGCCACAGCTTCTCATAAATC -3'
(R):5'- GCTTTAGCAATGTGTCCATAGGAGCC -3'

Sequencing Primer
(F):5'- TTGACAGGACCATCAGCTATG -3'
(R):5'- CCATAGGAGCCAAGAATTAATGTTGC -3'

Posted On

2014-01-29