Incidental Mutation 'IGL01111:Or51l4'
ID 51562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51l4
Ensembl Gene ENSMUSG00000050281
Gene Name olfactory receptor family 51 subfamily L member 4
Synonyms Olfr630, MOR17-1, GA_x6K02T2PBJ9-6483085-6482126
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL01111
Quality Score
Status
Chromosome 7
Chromosomal Location 103403357-103406557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103404580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 71 (T71S)
Ref Sequence ENSEMBL: ENSMUSP00000102493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106880]
AlphaFold Q9EQQ7
Predicted Effect probably benign
Transcript: ENSMUST00000052826
AA Change: T71S

PolyPhen 2 Score 0.010 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049569
Gene: ENSMUSG00000050281
AA Change: T71S

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 3.4e-120 PFAM
Pfam:7TM_GPCR_Srsx 37 305 3.7e-8 PFAM
Pfam:7tm_1 43 294 1.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106880
AA Change: T71S

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: T71S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 305 3.7e-8 PFAM
Pfam:7tm_1 43 294 8.4e-25 PFAM
Pfam:7tm_4 144 287 9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217072
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l T A 18: 31,905,123 (GRCm39) Y121* probably null Het
Apc C T 18: 34,448,189 (GRCm39) T1661I possibly damaging Het
Ccdc13 T C 9: 121,639,150 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpt1c T C 7: 44,614,978 (GRCm39) H325R possibly damaging Het
Cyp2a22 T C 7: 26,635,883 (GRCm39) K227E probably damaging Het
Ddx10 T C 9: 53,071,248 (GRCm39) K682E possibly damaging Het
Dlg2 T C 7: 91,098,971 (GRCm39) Y123H possibly damaging Het
Dnaaf9 G T 2: 130,578,518 (GRCm39) D655E possibly damaging Het
Dnah11 A T 12: 118,106,669 (GRCm39) probably benign Het
Dpysl2 T C 14: 67,071,681 (GRCm39) E153G probably damaging Het
Edrf1 T A 7: 133,260,282 (GRCm39) Y64* probably null Het
Ephb2 A T 4: 136,384,721 (GRCm39) S897T probably benign Het
Flt1 A G 5: 147,515,146 (GRCm39) I1092T probably damaging Het
Gabra4 T C 5: 71,790,972 (GRCm39) Y290C probably damaging Het
Hectd2 A T 19: 36,574,520 (GRCm39) H67L probably damaging Het
Itgb2 T C 10: 77,377,834 (GRCm39) L11P probably damaging Het
Jmy T C 13: 93,577,529 (GRCm39) R880G probably damaging Het
Klhl2 A G 8: 65,202,081 (GRCm39) C532R probably damaging Het
Kpna1 A G 16: 35,833,259 (GRCm39) probably benign Het
L3mbtl2 T C 15: 81,569,099 (GRCm39) V591A possibly damaging Het
Ldc1 T A 4: 130,115,518 (GRCm39) D10V probably benign Het
Lepr A T 4: 101,671,852 (GRCm39) N959Y possibly damaging Het
Man1a A T 10: 53,853,109 (GRCm39) probably benign Het
Mov10 A T 3: 104,708,721 (GRCm39) S431T possibly damaging Het
Mx2 A T 16: 97,359,919 (GRCm39) Q563L probably benign Het
Nrap A T 19: 56,333,990 (GRCm39) Y874N probably damaging Het
Nup160 T C 2: 90,563,553 (GRCm39) I1373T probably benign Het
Nwd2 A T 5: 63,964,643 (GRCm39) D1409V probably damaging Het
Obsl1 A T 1: 75,473,789 (GRCm39) V744E possibly damaging Het
Pgap1 T C 1: 54,570,102 (GRCm39) K315R probably benign Het
Rab8a T C 8: 72,929,700 (GRCm39) V114A probably damaging Het
Sh2d6 T C 6: 72,496,812 (GRCm39) T73A probably benign Het
Shroom1 A G 11: 53,354,875 (GRCm39) E265G probably damaging Het
Slc8b1 G A 5: 120,671,000 (GRCm39) V529M probably damaging Het
Srbd1 G T 17: 86,405,961 (GRCm39) A613E probably benign Het
Stat1 G A 1: 52,182,120 (GRCm39) probably null Het
Tbck A G 3: 132,400,168 (GRCm39) H73R probably damaging Het
Thg1l A T 11: 45,839,051 (GRCm39) D220E probably damaging Het
Ttn C T 2: 76,608,667 (GRCm39) G16037D probably damaging Het
Unc13b A G 4: 43,096,927 (GRCm39) E100G possibly damaging Het
Vmn2r81 T A 10: 79,083,831 (GRCm39) D68E probably benign Het
Xpo6 T C 7: 125,728,740 (GRCm39) T505A probably benign Het
Zfp976 T C 7: 42,265,711 (GRCm39) K25E probably damaging Het
Other mutations in Or51l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Or51l4 APN 7 103,404,213 (GRCm39) missense probably damaging 1.00
IGL02456:Or51l4 APN 7 103,404,700 (GRCm39) missense possibly damaging 0.94
IGL03173:Or51l4 APN 7 103,404,183 (GRCm39) missense probably benign 0.00
R1104:Or51l4 UTSW 7 103,404,183 (GRCm39) missense probably benign 0.00
R1507:Or51l4 UTSW 7 103,404,228 (GRCm39) missense probably benign 0.00
R1695:Or51l4 UTSW 7 103,404,131 (GRCm39) nonsense probably null
R1966:Or51l4 UTSW 7 103,404,375 (GRCm39) missense probably damaging 1.00
R1971:Or51l4 UTSW 7 103,404,527 (GRCm39) nonsense probably null
R2696:Or51l4 UTSW 7 103,404,735 (GRCm39) missense probably damaging 0.96
R4943:Or51l4 UTSW 7 103,404,503 (GRCm39) missense probably benign 0.12
R5622:Or51l4 UTSW 7 103,404,376 (GRCm39) missense probably damaging 0.99
R6365:Or51l4 UTSW 7 103,404,402 (GRCm39) missense probably benign 0.00
R7592:Or51l4 UTSW 7 103,404,279 (GRCm39) missense probably damaging 1.00
R8146:Or51l4 UTSW 7 103,404,510 (GRCm39) missense probably damaging 1.00
R8283:Or51l4 UTSW 7 103,404,019 (GRCm39) missense possibly damaging 0.51
R8867:Or51l4 UTSW 7 103,403,893 (GRCm39) nonsense probably null
R8875:Or51l4 UTSW 7 103,404,462 (GRCm39) missense probably damaging 1.00
R9658:Or51l4 UTSW 7 103,404,028 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21