Incidental Mutation 'R5478:Or5h17'
ID 434184
Institutional Source Beutler Lab
Gene Symbol Or5h17
Ensembl Gene ENSMUSG00000062105
Gene Name olfactory receptor family 5 subfamily H member 17
Synonyms MOR183-2, Olfr183, GA_x54KRFPKG5P-55229158-55230087
MMRRC Submission 043039-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5478 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 58815720-58821804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58820425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 126 (I126L)
Ref Sequence ENSEMBL: ENSMUSP00000149279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073320] [ENSMUST00000206303] [ENSMUST00000213465] [ENSMUST00000214831] [ENSMUST00000214916]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000073320
AA Change: I126L

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080602
Gene: ENSMUSG00000062105
AA Change: I126L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.7e-48 PFAM
Pfam:7tm_1 41 290 4.4e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000206303
AA Change: I126L

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213465
AA Change: I126L

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214831
AA Change: I126L

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214916
AA Change: I126L

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1976 question?
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.4%
  • 10x: 95.4%
  • 20x: 91.6%
Validation Efficiency 98% (63/64)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,827,904 (GRCm39) probably benign Het
Adamts2 T C 11: 50,683,478 (GRCm39) V920A possibly damaging Het
Alpk1 A G 3: 127,471,368 (GRCm39) V1038A probably damaging Het
Amotl1 A G 9: 14,504,048 (GRCm39) probably null Het
Apba2 T A 7: 64,344,934 (GRCm39) Y41* probably null Het
BC048562 G A 9: 108,322,363 (GRCm39) probably benign Het
Braf A G 6: 39,654,508 (GRCm39) L86P possibly damaging Het
Capn3 A G 2: 120,294,666 (GRCm39) probably null Het
Carmil1 T C 13: 24,296,028 (GRCm39) D371G probably damaging Het
Cdhr4 G A 9: 107,872,790 (GRCm39) V280I possibly damaging Het
Cdkl2 T A 5: 92,187,108 (GRCm39) K53* probably null Het
Chl1 A T 6: 103,660,182 (GRCm39) E353D probably damaging Het
Col4a2 T A 8: 11,448,697 (GRCm39) N72K probably benign Het
Comtd1 A T 14: 21,898,981 (GRCm39) probably benign Het
Ctsm A T 13: 61,685,543 (GRCm39) S290T probably benign Het
Defa35 A T 8: 21,555,836 (GRCm39) Y65F probably benign Het
Dock8 T A 19: 25,057,186 (GRCm39) C198S probably benign Het
Epha3 A C 16: 63,403,896 (GRCm39) M734R probably damaging Het
Fastkd2 T C 1: 63,778,345 (GRCm39) I406T probably benign Het
Fshr C T 17: 89,309,143 (GRCm39) V222I probably benign Het
Gm16686 A T 4: 88,673,714 (GRCm39) probably benign Het
Gm4922 T C 10: 18,659,885 (GRCm39) E279G probably benign Het
Gm5709 A T 3: 59,543,095 (GRCm39) noncoding transcript Het
Grin3a C A 4: 49,792,481 (GRCm39) M417I probably benign Het
Hnf4a A T 2: 163,410,926 (GRCm39) M408L probably benign Het
Idh1 A T 1: 65,200,997 (GRCm39) M318K probably benign Het
Krt222 A G 11: 99,125,774 (GRCm39) S286P probably damaging Het
Mmrn2 A T 14: 34,118,539 (GRCm39) T142S probably benign Het
Myocd G T 11: 65,123,914 (GRCm39) probably null Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Or52ab7 T C 7: 102,978,032 (GRCm39) L113P probably damaging Het
Pcdhgc4 C T 18: 37,950,375 (GRCm39) T597M probably damaging Het
Pdrg1 A G 2: 152,857,152 (GRCm39) probably benign Het
Per2 T A 1: 91,360,590 (GRCm39) I521F probably benign Het
Pkhd1 G A 1: 20,271,380 (GRCm39) L3058F probably damaging Het
Plaat5 A C 19: 7,592,036 (GRCm39) probably benign Het
Pnliprp1 A T 19: 58,723,423 (GRCm39) probably null Het
Ppargc1b T A 18: 61,440,639 (GRCm39) M744L probably benign Het
Prpf18 A T 2: 4,643,705 (GRCm39) N155K probably benign Het
Pum1 T A 4: 130,478,795 (GRCm39) N472K possibly damaging Het
Reln A T 5: 22,209,201 (GRCm39) S1126T probably benign Het
Rnase11 A G 14: 51,287,332 (GRCm39) L74P probably damaging Het
Slc25a23 T A 17: 57,359,780 (GRCm39) I324F probably damaging Het
Slc26a10 C A 10: 127,009,818 (GRCm39) R576L probably benign Het
Slc4a1 T A 11: 102,241,140 (GRCm39) E921D probably damaging Het
Slc9c1 A T 16: 45,374,609 (GRCm39) M296L probably damaging Het
Sos1 T C 17: 80,741,276 (GRCm39) D503G probably damaging Het
Srpk2 G A 5: 23,729,181 (GRCm39) T486I possibly damaging Het
Sult6b1 A T 17: 79,202,101 (GRCm39) probably null Het
Tbc1d16 T C 11: 119,045,917 (GRCm39) E509G probably benign Het
Tktl2 T C 8: 66,966,050 (GRCm39) V536A probably damaging Het
Ugt2b36 A T 5: 87,237,341 (GRCm39) V188D probably damaging Het
Veph1 T C 3: 66,162,443 (GRCm39) T72A probably damaging Het
Vmn2r73 A T 7: 85,518,996 (GRCm39) I542N probably damaging Het
Vps13d G A 4: 144,894,120 (GRCm39) P480S probably damaging Het
Zfp319 A G 8: 96,052,193 (GRCm39) probably benign Het
Other mutations in Or5h17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02294:Or5h17 APN 16 58,820,428 (GRCm39) missense probably damaging 1.00
IGL02795:Or5h17 APN 16 58,820,640 (GRCm39) missense possibly damaging 0.73
IGL02803:Or5h17 APN 16 58,820,321 (GRCm39) missense probably benign 0.33
IGL02837:Or5h17 UTSW 16 58,820,909 (GRCm39) missense probably damaging 1.00
R0045:Or5h17 UTSW 16 58,820,854 (GRCm39) missense probably benign 0.00
R0372:Or5h17 UTSW 16 58,820,450 (GRCm39) missense probably benign 0.03
R0652:Or5h17 UTSW 16 58,820,063 (GRCm39) missense probably damaging 0.99
R0890:Or5h17 UTSW 16 58,820,150 (GRCm39) missense possibly damaging 0.94
R1279:Or5h17 UTSW 16 58,820,501 (GRCm39) missense possibly damaging 0.94
R1429:Or5h17 UTSW 16 58,820,501 (GRCm39) missense possibly damaging 0.94
R1473:Or5h17 UTSW 16 58,820,275 (GRCm39) missense probably benign 0.32
R2115:Or5h17 UTSW 16 58,820,783 (GRCm39) missense possibly damaging 0.50
R2117:Or5h17 UTSW 16 58,820,783 (GRCm39) missense possibly damaging 0.50
R4508:Or5h17 UTSW 16 58,820,138 (GRCm39) missense probably benign 0.26
R4709:Or5h17 UTSW 16 58,820,458 (GRCm39) missense probably benign 0.01
R4929:Or5h17 UTSW 16 58,820,582 (GRCm39) missense probably damaging 1.00
R5522:Or5h17 UTSW 16 58,820,268 (GRCm39) missense probably benign 0.22
R5571:Or5h17 UTSW 16 58,820,569 (GRCm39) missense probably benign 0.02
R5685:Or5h17 UTSW 16 58,820,709 (GRCm39) missense probably benign
R6064:Or5h17 UTSW 16 58,820,186 (GRCm39) missense probably damaging 0.99
R7443:Or5h17 UTSW 16 58,820,353 (GRCm39) missense probably damaging 0.96
R7870:Or5h17 UTSW 16 58,820,086 (GRCm39) missense probably benign 0.00
R8085:Or5h17 UTSW 16 58,820,432 (GRCm39) missense probably benign 0.02
R8459:Or5h17 UTSW 16 58,820,348 (GRCm39) missense probably damaging 1.00
R9177:Or5h17 UTSW 16 58,820,083 (GRCm39) missense probably damaging 0.99
R9268:Or5h17 UTSW 16 58,820,083 (GRCm39) missense probably damaging 0.99
R9569:Or5h17 UTSW 16 58,820,228 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCATCTGGAATGACCCTCAC -3'
(R):5'- GGTAAACACTTGTATTGAACCAGAG -3'

Sequencing Primer
(F):5'- CTTAGTAACTTAGCCTTTGTGGATAC -3'
(R):5'- TTTAACAATGGTATCACATCGCAG -3'
Posted On 2016-10-06