Incidental Mutation 'R0412:Olfr1385'
ID36727
Institutional Source Beutler Lab
Gene Symbol Olfr1385
Ensembl Gene ENSMUSG00000059729
Gene Nameolfactory receptor 1385
SynonymsMOR256-42P, MOR256-41P, Olfr1549-ps1, GA_x6K02T2QP88-5941817-5940888, MOR256-42P
MMRRC Submission 038614-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #R0412 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location49489070-49497496 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 49494767 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 78 (V78E)
Ref Sequence ENSEMBL: ENSMUSP00000150035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071807] [ENSMUST00000214948]
Predicted Effect probably damaging
Transcript: ENSMUST00000071807
AA Change: V78E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071710
Gene: ENSMUSG00000059729
AA Change: V78E

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000214948
AA Change: V78E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216450
Meta Mutation Damage Score 0.6973 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.2%
Validation Efficiency 94% (67/71)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik C G 7: 29,530,570 noncoding transcript Het
Arap1 C A 7: 101,390,222 A563D probably damaging Het
Arhgap28 G A 17: 67,896,258 L67F probably damaging Het
Atp7b G T 8: 21,995,659 probably null Het
Auts2 A G 5: 131,446,831 F485L probably benign Het
Ccdc68 A G 18: 69,960,439 E239G probably damaging Het
Cdc42bpg T G 19: 6,313,457 L449R probably damaging Het
Colgalt2 G T 1: 152,508,561 A551S possibly damaging Het
Ddx41 G T 13: 55,530,608 S630Y probably damaging Het
Dntt T C 19: 41,042,933 L274P probably damaging Het
Fhl4 G T 10: 85,098,816 H34N possibly damaging Het
Filip1 A T 9: 79,820,289 N349K possibly damaging Het
Gm9894 C T 13: 67,765,026 noncoding transcript Het
Gpr179 A G 11: 97,338,807 S841P probably damaging Het
Gpr35 G T 1: 92,982,784 V73L probably benign Het
Grik5 A G 7: 25,013,674 V809A possibly damaging Het
H2-Bl T A 17: 36,081,521 probably benign Het
Heatr5b T C 17: 78,820,854 T451A probably benign Het
Hmcn2 G A 2: 31,388,247 V1654M probably damaging Het
Htra3 G T 5: 35,671,065 A157E probably damaging Het
Igf2r A T 17: 12,683,948 V2405D probably damaging Het
Irs3 C A 5: 137,643,877 R433L probably benign Het
Kcmf1 G A 6: 72,848,241 Q239* probably null Het
Kcnk9 A G 15: 72,513,056 probably benign Het
Kif28 A G 1: 179,702,526 V622A probably benign Het
Klrb1f A T 6: 129,054,331 I164F probably benign Het
Lama2 A G 10: 27,190,625 S1087P possibly damaging Het
Mchr1 A T 15: 81,235,747 probably benign Het
Mcidas A G 13: 112,999,143 T367A probably damaging Het
Mphosph8 A C 14: 56,674,413 K298Q probably damaging Het
Mroh2a G T 1: 88,235,216 Q360H probably benign Het
Mst1 A C 9: 108,083,594 D461A probably benign Het
Nckap1l A T 15: 103,464,652 S311C probably benign Het
Olfr1036 C T 2: 86,075,091 A117V probably benign Het
Olfr1233 T A 2: 89,340,078 M75L probably benign Het
Olfr251 A C 9: 38,378,794 K298N probably damaging Het
Pde3a T G 6: 141,498,684 C1073G probably damaging Het
Pkhd1 T C 1: 20,117,788 D3432G probably damaging Het
Ppargc1b G T 18: 61,315,861 P130Q probably damaging Het
Ppp6r1 A G 7: 4,642,214 I228T probably damaging Het
Pram1 A G 17: 33,641,506 N349S probably benign Het
Ranbp6 C T 19: 29,812,083 V290I possibly damaging Het
Rcan3 A T 4: 135,416,603 probably null Het
Scn8a G C 15: 101,008,306 probably benign Het
Slc12a5 C T 2: 164,994,062 T900M probably benign Het
Srsf10 A G 4: 135,858,403 Y55C probably damaging Het
Syt7 G T 19: 10,444,080 E450* probably null Het
Tbrg4 T C 11: 6,623,832 K130R probably benign Het
Tgm7 C A 2: 121,101,065 V206F probably damaging Het
Tmem131l T C 3: 84,031,648 D67G probably damaging Het
Ttc7 A G 17: 87,330,044 K409R probably benign Het
Unc80 A T 1: 66,550,937 probably benign Het
Vmn1r171 C T 7: 23,632,655 L102F possibly damaging Het
Vmn2r59 A C 7: 42,046,492 probably benign Het
Vsig2 A G 9: 37,542,690 R191G probably damaging Het
Wdr86 T A 5: 24,718,234 Q153H probably benign Het
Xxylt1 T A 16: 31,007,798 N233I probably damaging Het
Zfp160 A T 17: 21,026,877 E563V probably damaging Het
Zfp345 T A 2: 150,473,403 E71D probably benign Het
Zfp541 A G 7: 16,082,174 D862G possibly damaging Het
Zfp639 A C 3: 32,517,110 Q47P possibly damaging Het
Other mutations in Olfr1385
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1263:Olfr1385 UTSW 11 49495021 missense probably benign
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
Z1176:Olfr1385 UTSW 11 49495067 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAAGGGCCTGGTTCAGGAAATC -3'
(R):5'- TGGACGACACACAGCAGCATAG -3'

Sequencing Primer
(F):5'- GTGGGCACTAAGTTAATACCCTG -3'
(R):5'- ACAGCAGCATAGCGGTC -3'
Posted On2013-05-09