Incidental Mutation 'R6279:Olfr1387'
ID 507842
Institutional Source Beutler Lab
Gene Symbol Olfr1387
Ensembl Gene ENSMUSG00000063386
Gene Name olfactory receptor 1387
Synonyms MOR256-22, GA_x6K02T2QP88-5975166-5974231
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6279 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 49455343-49464001 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49460212 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 178 (C178S)
Ref Sequence ENSEMBL: ENSMUSP00000151105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073824] [ENSMUST00000204518] [ENSMUST00000213674] [ENSMUST00000214541]
AlphaFold Q8VFA9
Predicted Effect probably damaging
Transcript: ENSMUST00000073824
AA Change: C178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073494
Gene: ENSMUSG00000063386
AA Change: C178S

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1e-49 PFAM
Pfam:7tm_1 41 289 5.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204518
SMART Domains Protein: ENSMUSP00000145320
Gene: ENSMUSG00000108167

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.2e-49 PFAM
Pfam:7TM_GPCR_Srsx 35 227 1.2e-5 PFAM
Pfam:7tm_1 41 289 7.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213674
Predicted Effect probably damaging
Transcript: ENSMUST00000214541
AA Change: C178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8214 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110001I22Rik T C 16: 13,677,270 S78P probably damaging Het
Ap1s3 T C 1: 79,625,123 K56E probably damaging Het
Apob C T 12: 8,007,769 R2084* probably null Het
Arid1b C A 17: 5,341,999 L1935M probably damaging Het
Arntl2 A G 6: 146,821,946 Y258C probably damaging Het
Bag6 T C 17: 35,138,601 V122A probably damaging Het
Cacna1e T A 1: 154,425,932 T1685S probably benign Het
Cd163 T A 6: 124,317,991 C671* probably null Het
Cul3 A G 1: 80,286,952 V211A probably damaging Het
Cyp2d22 C A 15: 82,373,968 K150N probably damaging Het
Dnah6 A T 6: 73,065,815 I3208N probably damaging Het
Dnah7b T C 1: 46,325,886 F3609S probably damaging Het
Endod1 T C 9: 14,356,870 T440A probably benign Het
Exph5 A G 9: 53,373,946 T776A possibly damaging Het
Faap24 A C 7: 35,396,284 V12G possibly damaging Het
Gabrg2 T C 11: 42,000,523 probably null Het
Ggta1 A G 2: 35,407,994 Y148H probably damaging Het
Hspe1 T A 1: 55,090,701 probably null Het
Il12a A T 3: 68,697,979 I193F probably damaging Het
Il2rb T C 15: 78,481,538 N520D possibly damaging Het
Kat6a A G 8: 22,939,612 Q1661R unknown Het
Klhl18 T A 9: 110,436,062 N362I probably benign Het
Lrba A G 3: 86,348,864 D1171G probably benign Het
Mef2b C T 8: 70,167,119 T285I possibly damaging Het
Mmrn2 T C 14: 34,397,657 S198P probably benign Het
Msh6 T C 17: 87,980,249 W106R probably damaging Het
Nek5 T A 8: 22,107,721 M281L probably benign Het
Olfr1202 A T 2: 88,817,375 D68V probably damaging Het
Olfr1493-ps1 A G 19: 13,726,665 I135V probably benign Het
Olfr596 A T 7: 103,310,429 H236L probably benign Het
Olfr676 G A 7: 105,035,671 V158M probably benign Het
Pcdhgb5 T A 18: 37,732,699 F516I probably damaging Het
Pde10a T C 17: 8,978,957 I1026T probably damaging Het
Pde4dip A C 3: 97,699,180 L2126R probably damaging Het
Pds5b T A 5: 150,723,248 N167K possibly damaging Het
Pkmyt1 C T 17: 23,732,502 P10L probably benign Het
Prr5l A T 2: 101,717,420 Y253* probably null Het
Rdh9 A G 10: 127,776,758 T92A probably benign Het
Reln A G 5: 21,896,841 Y3364H probably damaging Het
Rufy4 T A 1: 74,133,224 S369T probably benign Het
Ryr1 A T 7: 29,087,428 M1587K possibly damaging Het
Ryr2 T A 13: 11,680,999 H2994L probably damaging Het
Safb2 T C 17: 56,563,226 H950R possibly damaging Het
Sez6 T C 11: 77,976,541 V788A possibly damaging Het
Sfrp4 G A 13: 19,623,853 A141T probably damaging Het
Sh3d19 A T 3: 86,104,102 I332F possibly damaging Het
Skor1 A T 9: 63,145,314 W458R probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,403,480 probably benign Het
Slc19a2 C T 1: 164,256,775 T78M probably damaging Het
Slc8a3 T A 12: 81,314,978 I356F probably damaging Het
Slk A G 19: 47,642,004 T1205A probably damaging Het
Tcte1 T C 17: 45,533,289 S64P possibly damaging Het
Tnpo1 G A 13: 98,890,708 P25L possibly damaging Het
Top3a T C 11: 60,749,408 D488G probably benign Het
Tshz1 A T 18: 84,015,311 V324D probably damaging Het
Ttc21a T C 9: 119,961,839 S884P possibly damaging Het
Usp17lb A G 7: 104,840,691 L342P probably damaging Het
Vwa3a A G 7: 120,782,400 N3S probably damaging Het
Zfp672 A T 11: 58,317,268 C76S probably damaging Het
Other mutations in Olfr1387
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Olfr1387 APN 11 49460443 missense probably benign 0.05
IGL01511:Olfr1387 APN 11 49460216 missense probably damaging 1.00
IGL02322:Olfr1387 APN 11 49459957 missense probably benign 0.12
R1028:Olfr1387 UTSW 11 49460220 missense probably benign 0.03
R2173:Olfr1387 UTSW 11 49460140 missense probably benign 0.00
R3894:Olfr1387 UTSW 11 49459939 missense possibly damaging 0.60
R5860:Olfr1387 UTSW 11 49459736 missense probably damaging 1.00
R6300:Olfr1387 UTSW 11 49460212 missense probably damaging 1.00
R6621:Olfr1387 UTSW 11 49459771 missense probably benign 0.09
R6836:Olfr1387 UTSW 11 49460077 missense possibly damaging 0.90
R6888:Olfr1387 UTSW 11 49460260 missense probably damaging 0.97
R9238:Olfr1387 UTSW 11 49459702 missense probably benign
R9687:Olfr1387 UTSW 11 49459691 missense probably benign 0.03
Z1088:Olfr1387 UTSW 11 49460456 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGGCCTCCACAGAATGTTTG -3'
(R):5'- AAGTCCCAAAAGCCTTTCTGC -3'

Sequencing Primer
(F):5'- GCAATGGCCTTTGACCGCTATG -3'
(R):5'- AAAAGCCTTTCTGCGTCCAG -3'
Posted On 2018-03-15