Incidental Mutation 'R5165:Olfr1388'
ID395659
Institutional Source Beutler Lab
Gene Symbol Olfr1388
Ensembl Gene ENSMUSG00000047702
Gene Nameolfactory receptor 1388
SynonymsGA_x6K02T2QP88-5991012-5990077, MOR256-28
MMRRC Submission 042746-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #R5165 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location49436624-49446103 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 49444376 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 175 (H175R)
Ref Sequence ENSEMBL: ENSMUSP00000150160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055584] [ENSMUST00000215226]
Predicted Effect probably damaging
Transcript: ENSMUST00000055584
AA Change: H175R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053834
Gene: ENSMUSG00000047702
AA Change: H175R

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 3.7e-46 PFAM
Pfam:7TM_GPCR_Srsx 35 154 9.8e-7 PFAM
Pfam:7tm_1 41 289 7.6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215226
AA Change: H175R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2040 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 T A 6: 83,526,832 I77F probably benign Het
Actl6a G A 3: 32,720,208 V285I probably benign Het
Adam9 A T 8: 24,967,174 I646N possibly damaging Het
Ahnak T C 19: 9,015,665 I4771T possibly damaging Het
Alas1 T C 9: 106,241,255 T223A probably damaging Het
Apc2 A G 10: 80,315,850 E2246G probably damaging Het
Atp1a1 A G 3: 101,581,789 I795T probably benign Het
Cdhr4 T C 9: 107,997,630 L633P probably damaging Het
Cep350 A G 1: 155,928,368 S990P probably damaging Het
Cplx2 A G 13: 54,378,976 I66V possibly damaging Het
Cx3cl1 T C 8: 94,779,876 S170P probably benign Het
Cyth1 T C 11: 118,169,082 N353S possibly damaging Het
Dapp1 T C 3: 137,939,215 probably null Het
Dmwd G A 7: 19,078,035 probably benign Het
Dsg1c A G 18: 20,277,023 H516R probably damaging Het
Efemp2 T C 19: 5,475,411 C39R probably damaging Het
Fnbp4 C G 2: 90,777,657 Q908E possibly damaging Het
Foxred2 A G 15: 77,956,012 V26A probably damaging Het
Gkap1 A G 13: 58,263,196 probably null Het
Gstcd A C 3: 133,084,679 V109G probably damaging Het
Hoxc9 T A 15: 102,984,000 M215K probably damaging Het
Igkv4-80 A C 6: 69,016,665 S81A probably benign Het
Kcnj9 A T 1: 172,323,157 D296E probably benign Het
Kctd18 T C 1: 57,959,236 Y68C probably damaging Het
Kif21a A T 15: 90,956,376 M1179K probably benign Het
Lrfn5 T C 12: 61,839,624 I66T possibly damaging Het
Lrp12 A G 15: 39,872,461 S692P probably benign Het
Lrrc10 A T 10: 117,046,060 N213I probably benign Het
Mettl11b A G 1: 163,722,523 I53T probably benign Het
Nceh1 G A 3: 27,241,528 V313I probably benign Het
Nkx6-3 T A 8: 23,153,743 H53Q probably damaging Het
Nov A G 15: 54,749,189 D198G probably damaging Het
Olfr1276 T A 2: 111,257,223 V36E possibly damaging Het
Olfr128 A G 17: 37,924,361 D265G probably benign Het
Olfr1447 A T 19: 12,901,200 N193K probably benign Het
Oxct1 A T 15: 4,053,769 T157S possibly damaging Het
Pcdhga3 A G 18: 37,675,670 E392G possibly damaging Het
Polr1a T G 6: 71,967,925 Y1322D probably damaging Het
Prkdc T A 16: 15,678,272 S776T probably damaging Het
Ralgapb A G 2: 158,465,912 I1047V possibly damaging Het
Sertad4 A T 1: 192,846,822 S229T possibly damaging Het
Shank2 T A 7: 144,409,636 V327D possibly damaging Het
Skint6 A T 4: 112,865,668 V904E possibly damaging Het
Slfn8 A T 11: 83,017,127 Y197N probably damaging Het
Smo T A 6: 29,736,078 L23Q unknown Het
Snx29 T A 16: 11,420,775 M23K probably damaging Het
Synrg T C 11: 83,990,935 S366P probably benign Het
Tomm40 A G 7: 19,713,667 probably null Het
Tpcn1 T C 5: 120,557,945 E81G probably damaging Het
Trappc1 A G 11: 69,324,234 Q26R probably benign Het
Ttn T A 2: 76,776,556 probably null Het
Usp25 T A 16: 77,076,405 D450E possibly damaging Het
Zmynd19 T A 2: 24,958,189 Y132* probably null Het
Other mutations in Olfr1388
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Olfr1388 APN 11 49444374 missense probably damaging 1.00
IGL01346:Olfr1388 APN 11 49444768 missense probably benign 0.00
IGL01943:Olfr1388 APN 11 49444188 nonsense probably null
IGL03343:Olfr1388 APN 11 49444243 missense probably damaging 0.97
R1530:Olfr1388 UTSW 11 49443905 missense probably benign 0.27
R1699:Olfr1388 UTSW 11 49444289 missense possibly damaging 0.88
R2059:Olfr1388 UTSW 11 49444451 missense probably damaging 0.99
R2198:Olfr1388 UTSW 11 49443959 missense probably benign 0.01
R4782:Olfr1388 UTSW 11 49443869 missense probably benign 0.00
R4885:Olfr1388 UTSW 11 49444622 missense probably damaging 0.97
R4966:Olfr1388 UTSW 11 49444118 missense possibly damaging 0.94
R5173:Olfr1388 UTSW 11 49443886 missense probably benign 0.12
R5667:Olfr1388 UTSW 11 49444313 missense probably benign 0.00
R5671:Olfr1388 UTSW 11 49444313 missense probably benign 0.00
R5836:Olfr1388 UTSW 11 49444526 missense probably damaging 1.00
R6173:Olfr1388 UTSW 11 49444472 missense probably benign 0.01
R6801:Olfr1388 UTSW 11 49444342 missense probably benign 0.10
R6864:Olfr1388 UTSW 11 49443940 missense probably benign
R6876:Olfr1388 UTSW 11 49444241 missense probably damaging 1.00
R7386:Olfr1388 UTSW 11 49444400 missense possibly damaging 0.95
R8119:Olfr1388 UTSW 11 49444126 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCATCTACAGAGTGTGTGC -3'
(R):5'- ACAAGTCCCAAAAGCTTTTCTGC -3'

Sequencing Primer
(F):5'- CATCTACAGAGTGTGTGCTATTG -3'
(R):5'- AAAAGCTTTTCTGCGTCCAG -3'
Posted On2016-06-21