Incidental Mutation 'IGL01287:Or51l14'
ID 72753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51l14
Ensembl Gene ENSMUSG00000073949
Gene Name olfactory receptor family 51 subfamily L member 14
Synonyms Olfr606, GA_x6K02T2PBJ9-6173009-6173968, MOR17-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL01287
Quality Score
Status
Chromosome 7
Chromosomal Location 103100546-103101505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103101002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 153 (R153W)
Ref Sequence ENSEMBL: ENSMUSP00000151177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098200] [ENSMUST00000214347] [ENSMUST00000214631] [ENSMUST00000217250]
AlphaFold Q8VGZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000098200
AA Change: R153W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095802
Gene: ENSMUSG00000073949
AA Change: R153W

DomainStartEndE-ValueType
low complexity region 4 12 N/A INTRINSIC
Pfam:7tm_4 33 312 7.1e-116 PFAM
Pfam:7TM_GPCR_Srsx 37 307 9e-8 PFAM
Pfam:7tm_1 43 294 7.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214347
Predicted Effect probably damaging
Transcript: ENSMUST00000214631
AA Change: R153W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217250
AA Change: R153W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,040 (GRCm39) K445E probably damaging Het
Abca15 A T 7: 119,932,081 (GRCm39) probably benign Het
Acsbg3 C T 17: 57,189,203 (GRCm39) Q204* probably null Het
Acvr1c A T 2: 58,170,254 (GRCm39) C371* probably null Het
Brs3 T C X: 56,092,727 (GRCm39) probably benign Het
Car14 C T 3: 95,806,871 (GRCm39) V198M possibly damaging Het
Cenpc1 G A 5: 86,170,313 (GRCm39) R704* probably null Het
Crybg1 C T 10: 43,868,490 (GRCm39) R1396H possibly damaging Het
Cubn A G 2: 13,315,377 (GRCm39) S3019P probably damaging Het
Cyp2j9 T C 4: 96,471,665 (GRCm39) E222G probably benign Het
Defb50 C A 8: 22,321,187 (GRCm39) T59K probably benign Het
Dlg3 T C X: 99,850,848 (GRCm39) I587T possibly damaging Het
Doc2a C T 7: 126,450,173 (GRCm39) R204C probably damaging Het
Galc T C 12: 98,212,503 (GRCm39) probably benign Het
Gm8257 A T 14: 44,892,800 (GRCm39) F67I probably damaging Het
Hnrnpul1 A T 7: 25,426,323 (GRCm39) N509K probably damaging Het
Iars2 T A 1: 185,028,625 (GRCm39) I678F possibly damaging Het
Ifit1 A G 19: 34,625,533 (GRCm39) E223G possibly damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Lrp4 C A 2: 91,304,293 (GRCm39) D157E probably damaging Het
Ltk T A 2: 119,586,186 (GRCm39) T21S probably benign Het
Lvrn A T 18: 46,997,733 (GRCm39) probably benign Het
Maob G A X: 16,578,881 (GRCm39) A424V probably damaging Het
Myo1g C A 11: 6,465,856 (GRCm39) V410F possibly damaging Het
Myorg T A 4: 41,498,923 (GRCm39) I236F possibly damaging Het
Naxe T C 3: 87,963,981 (GRCm39) H250R probably damaging Het
Nek5 T C 8: 22,601,199 (GRCm39) N174S possibly damaging Het
Or2y3 G T 17: 38,392,998 (GRCm39) N290K probably damaging Het
Or9m2 A G 2: 87,821,288 (GRCm39) T278A probably benign Het
Pex1 A G 5: 3,656,027 (GRCm39) T285A probably benign Het
Pfas A G 11: 68,892,086 (GRCm39) S141P probably benign Het
Pmm1 T C 15: 81,839,945 (GRCm39) T127A probably damaging Het
Proc C A 18: 32,256,873 (GRCm39) probably benign Het
Ranbp9 T C 13: 43,633,980 (GRCm39) E142G probably damaging Het
Recql4 C A 15: 76,594,112 (GRCm39) probably benign Het
Robo4 C T 9: 37,324,336 (GRCm39) P955S possibly damaging Het
Ryr3 T A 2: 112,539,418 (GRCm39) N3274I probably damaging Het
Serpinb10 T C 1: 107,468,612 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,404,811 (GRCm39) K848* probably null Het
Slfn5 A G 11: 82,847,807 (GRCm39) T231A probably damaging Het
Syncrip T C 9: 88,338,660 (GRCm39) probably benign Het
Syt16 A T 12: 74,313,513 (GRCm39) T480S probably damaging Het
Taf1c G A 8: 120,327,931 (GRCm39) T293M probably benign Het
Tbc1d5 T C 17: 51,120,826 (GRCm39) D430G possibly damaging Het
Tbx18 T C 9: 87,606,384 (GRCm39) T254A probably damaging Het
Tpm1 C T 9: 66,943,337 (GRCm39) R105H probably damaging Het
Usp17la T C 7: 104,510,522 (GRCm39) S376P probably benign Het
Vmn1r19 A G 6: 57,382,179 (GRCm39) D244G probably damaging Het
Vmn1r58 A T 7: 5,414,054 (GRCm39) F59I probably benign Het
Vmn2r45 A T 7: 8,488,622 (GRCm39) M136K probably benign Het
Vmn2r70 T A 7: 85,218,227 (GRCm39) R24* probably null Het
Vmn2r75 T A 7: 85,797,801 (GRCm39) I671F probably damaging Het
Other mutations in Or51l14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:Or51l14 APN 7 103,101,011 (GRCm39) missense probably benign 0.00
IGL02251:Or51l14 APN 7 103,100,978 (GRCm39) nonsense probably null
IGL02319:Or51l14 APN 7 103,101,474 (GRCm39) missense probably benign 0.01
R0369:Or51l14 UTSW 7 103,101,423 (GRCm39) missense probably damaging 1.00
R0480:Or51l14 UTSW 7 103,100,835 (GRCm39) missense probably benign 0.07
R1759:Or51l14 UTSW 7 103,101,356 (GRCm39) missense probably benign 0.11
R1858:Or51l14 UTSW 7 103,101,332 (GRCm39) missense probably benign 0.16
R2156:Or51l14 UTSW 7 103,101,371 (GRCm39) missense probably benign 0.01
R4226:Or51l14 UTSW 7 103,100,784 (GRCm39) missense probably benign 0.31
R4422:Or51l14 UTSW 7 103,101,450 (GRCm39) missense probably damaging 0.99
R5071:Or51l14 UTSW 7 103,100,617 (GRCm39) missense probably benign
R5074:Or51l14 UTSW 7 103,100,617 (GRCm39) missense probably benign
R5137:Or51l14 UTSW 7 103,100,920 (GRCm39) nonsense probably null
R5137:Or51l14 UTSW 7 103,100,919 (GRCm39) missense probably damaging 1.00
R8914:Or51l14 UTSW 7 103,101,090 (GRCm39) missense probably damaging 1.00
R9457:Or51l14 UTSW 7 103,100,618 (GRCm39) missense probably benign 0.00
X0018:Or51l14 UTSW 7 103,101,005 (GRCm39) missense possibly damaging 0.72
Posted On 2013-10-07