Incidental Mutation 'R5522:Or5h17'
ID 431637
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 043081-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5522 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 58815720-58821804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58820268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 73 (L73F)
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 probably benign
Transcript: ENSMUST00000073320
AA Change: L73F

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000080602
Gene: ENSMUSG00000062105
AA Change: L73F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.7e-48 PFAM
Pfam:7tm_1 41 290 4.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206303
AA Change: L73F

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000213465
AA Change: L73F

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000214831
AA Change: L73F

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000214916
AA Change: L73F

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.4%
  • 10x: 93.9%
  • 20x: 85.3%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T C 8: 84,649,704 (GRCm39) Y121H possibly damaging Het
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Atp13a2 T A 4: 140,731,671 (GRCm39) probably null Het
Cd69 A T 6: 129,248,379 (GRCm39) S36T probably damaging Het
Ceacam5 A T 7: 17,449,005 (GRCm39) I124L probably benign Het
Cerkl T C 2: 79,223,328 (GRCm39) H131R probably benign Het
Cfap57 A T 4: 118,453,085 (GRCm39) N539K probably benign Het
Cyp4x1 C A 4: 114,979,174 (GRCm39) W141L probably damaging Het
Dlgap1 T C 17: 70,823,993 (GRCm39) probably null Het
Dnaaf9 G A 2: 130,656,222 (GRCm39) probably benign Het
Dst T C 1: 34,296,954 (GRCm39) I5781T possibly damaging Het
Epha2 T A 4: 141,035,867 (GRCm39) V101E probably damaging Het
Exph5 T C 9: 53,285,613 (GRCm39) F898S possibly damaging Het
Fyco1 G A 9: 123,623,836 (GRCm39) R1398* probably null Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Grb10 T C 11: 11,886,746 (GRCm39) I508V probably benign Het
Igf1r C A 7: 67,833,258 (GRCm39) Q473K probably damaging Het
Ighv1-66 T A 12: 115,556,755 (GRCm39) D109V probably damaging Het
Ipmk C A 10: 71,199,304 (GRCm39) T55K probably benign Het
Kdm2b A G 5: 123,087,225 (GRCm39) Y192H probably damaging Het
Krt32 A T 11: 99,977,497 (GRCm39) probably null Het
Kti12 T A 4: 108,705,620 (GRCm39) L178Q possibly damaging Het
Mchr1 A T 15: 81,122,211 (GRCm39) K320N possibly damaging Het
Mdn1 T C 4: 32,685,783 (GRCm39) L858S probably damaging Het
Myo3a T A 2: 22,464,353 (GRCm39) F198Y probably damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfatc1 T C 18: 80,696,744 (GRCm39) T647A probably benign Het
Nuf2 A G 1: 169,326,453 (GRCm39) Y433H probably damaging Het
Nup210l T C 3: 90,061,972 (GRCm39) V717A probably benign Het
Or3a1b A G 11: 74,012,484 (GRCm39) Y123C probably damaging Het
Or6c35 A T 10: 129,168,798 (GRCm39) D16V probably damaging Het
Pbrm1 A G 14: 30,811,520 (GRCm39) Y1210C probably damaging Het
Pcdhb6 A G 18: 37,467,402 (GRCm39) I108V probably benign Het
Plac8 T A 5: 100,710,584 (GRCm39) T6S probably benign Het
Plbd1 A T 6: 136,594,298 (GRCm39) V317E probably benign Het
Rars1 A T 11: 35,708,195 (GRCm39) Y406* probably null Het
Scamp3 T C 3: 89,084,929 (GRCm39) F11L possibly damaging Het
Sctr A G 1: 119,964,146 (GRCm39) N142S probably benign Het
Sh2d4a T C 8: 68,749,349 (GRCm39) S128P probably benign Het
Snrnp70 C T 7: 45,026,601 (GRCm39) probably benign Het
Taf3 T C 2: 9,945,816 (GRCm39) K596R probably damaging Het
Tango6 T C 8: 107,422,230 (GRCm39) probably null Het
Taok3 A G 5: 117,411,822 (GRCm39) T414A probably benign Het
Tmem104 G A 11: 115,079,149 (GRCm39) probably null Het
Tmem231 T A 8: 112,645,042 (GRCm39) S155C possibly damaging Het
Tssk3 G A 4: 129,383,343 (GRCm39) R110W possibly damaging Het
Ugt2b37 T C 5: 87,388,759 (GRCm39) T485A probably benign Het
Unc5b T C 10: 60,613,974 (GRCm39) K292E possibly damaging Het
Upf3a T A 8: 13,845,497 (GRCm39) probably null Het
Usp24 T A 4: 106,229,918 (GRCm39) V797E probably damaging Het
Vcan T C 13: 89,839,929 (GRCm39) T1872A possibly damaging Het
Vmn1r195 A G 13: 22,463,120 (GRCm39) M197V probably damaging Het
Vmn2r40 T A 7: 8,911,203 (GRCm39) T697S probably benign Het
Xab2 A T 8: 3,661,718 (GRCm39) D578E probably benign Het
Xpo7 A T 14: 70,909,090 (GRCm39) Y810* probably null Het
Zcchc2 A G 1: 105,951,426 (GRCm39) N587S probably benign Het
Zfp189 C T 4: 49,529,739 (GRCm39) R281* probably null Het
Zranb1 T C 7: 132,585,678 (GRCm39) *735R probably null 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
R5478:Or5h17 UTSW 16 58,820,425 (GRCm39) missense possibly damaging 0.88
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'- TCTCACAGGTCTCACATGCC -3'
(R):5'- GGCTAATAGGCGAACACATAATC -3'

Sequencing Primer
(F):5'- GTCTCACATGCCTACCACAGTG -3'
(R):5'- GGCGAACACATAATCTATTGGTC -3'
Posted On 2016-10-05