Incidental Mutation 'IGL03173:Or51l4'
ID 411917
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: 0.076) question?
Stock # IGL03173
Quality Score
Status
Chromosome 7
Chromosomal Location 103403357-103406557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103404183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 203 (V203A)
Ref Sequence ENSEMBL: ENSMUSP00000102493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106880]
AlphaFold Q9EQQ7
Predicted Effect probably benign
Transcript: ENSMUST00000052826
AA Change: V203A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000049569
Gene: ENSMUSG00000050281
AA Change: V203A

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: V203A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: V203A

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
Meta Mutation Damage Score 0.0898 question?
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b T C 12: 105,624,553 (GRCm39) K649E possibly damaging Het
Cnnm4 A G 1: 36,512,173 (GRCm39) probably benign Het
Cntrob C T 11: 69,200,853 (GRCm39) A503T possibly damaging Het
D3Ertd751e T A 3: 41,710,497 (GRCm39) Y170N probably damaging Het
Ddx23 T C 15: 98,548,885 (GRCm39) I306V probably benign Het
Ep400 A G 5: 110,856,737 (GRCm39) probably benign Het
Gmps T C 3: 63,897,750 (GRCm39) V234A probably damaging Het
Hivep2 G T 10: 14,003,726 (GRCm39) G108V possibly damaging Het
Irgc T C 7: 24,132,727 (GRCm39) E30G probably damaging Het
Krt75 T C 15: 101,481,162 (GRCm39) Y204C probably damaging Het
Ms4a14 G A 19: 11,281,560 (GRCm39) L333F possibly damaging Het
Or5an6 T A 19: 12,372,410 (GRCm39) M261K possibly damaging Het
Or8k27 A T 2: 86,275,788 (GRCm39) C179* probably null Het
Pitpnm3 G A 11: 71,983,389 (GRCm39) T80I probably benign Het
Pou2f2 T C 7: 24,799,371 (GRCm39) probably benign Het
Slc34a1 T C 13: 55,561,089 (GRCm39) L518P probably damaging Het
Sorbs1 T A 19: 40,351,706 (GRCm39) T235S probably damaging Het
Ssxa1 C T X: 20,985,224 (GRCm39) R41C probably benign Het
Syt2 A G 1: 134,671,317 (GRCm39) N142D possibly damaging Het
Taf3 A G 2: 9,957,738 (GRCm39) V143A probably damaging Het
Trav13-5 T C 14: 54,033,534 (GRCm39) probably benign Het
Tti1 A G 2: 157,848,932 (GRCm39) probably benign Het
Vmn2r13 T C 5: 109,319,645 (GRCm39) E445G possibly damaging Het
Zfp663 G T 2: 165,194,419 (GRCm39) T600K probably damaging Het
Zfp750 G A 11: 121,404,651 (GRCm39) Q75* probably null Het
Other mutations in Or51l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Or51l4 APN 7 103,404,213 (GRCm39) missense probably damaging 1.00
IGL01111:Or51l4 APN 7 103,404,580 (GRCm39) missense probably benign 0.07
IGL02456:Or51l4 APN 7 103,404,700 (GRCm39) missense possibly damaging 0.94
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 2016-08-02