Incidental Mutation 'IGL02983:Olfr54'
ID 406631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr54
Ensembl Gene ENSMUSG00000059397
Gene Name olfactory receptor 54
Synonyms GA_x6K02T2QP88-4411197-4410256, F3, MOR126-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL02983
Quality Score
Status
Chromosome 11
Chromosomal Location 51014236-51031578 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51027380 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 126 (V126A)
Ref Sequence ENSEMBL: ENSMUSP00000150809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072152] [ENSMUST00000215409] [ENSMUST00000217480]
AlphaFold Q8VFE6
Predicted Effect probably damaging
Transcript: ENSMUST00000072152
AA Change: V126A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072016
Gene: ENSMUSG00000059397
AA Change: V126A

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 3e-57 PFAM
Pfam:7TM_GPCR_Srsx 37 306 8.8e-6 PFAM
Pfam:7tm_1 43 291 2.7e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215409
AA Change: V126A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217480
AA Change: V126A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Olfr54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Olfr54 APN 11 51027589 nonsense probably null
IGL01875:Olfr54 APN 11 51027375 missense probably damaging 1.00
IGL01936:Olfr54 APN 11 51027335 missense probably benign 0.02
IGL02165:Olfr54 APN 11 51027643 missense probably benign 0.00
IGL02474:Olfr54 APN 11 51027365 missense probably damaging 1.00
IGL02706:Olfr54 APN 11 51027264 missense probably damaging 0.99
IGL03037:Olfr54 APN 11 51027290 missense probably damaging 1.00
IGL03086:Olfr54 APN 11 51027730 missense probably damaging 1.00
R0114:Olfr54 UTSW 11 51027604 missense probably benign 0.34
R1201:Olfr54 UTSW 11 51027110 missense probably damaging 0.99
R1353:Olfr54 UTSW 11 51027006 start codon destroyed probably null 0.33
R1624:Olfr54 UTSW 11 51027125 missense probably damaging 1.00
R1961:Olfr54 UTSW 11 51027475 missense probably benign 0.00
R5318:Olfr54 UTSW 11 51027593 missense probably benign 0.01
R5335:Olfr54 UTSW 11 51027334 missense probably benign 0.00
R6409:Olfr54 UTSW 11 51027188 missense probably damaging 1.00
R7097:Olfr54 UTSW 11 51027601 missense probably benign 0.09
R8243:Olfr54 UTSW 11 51027311 missense probably benign
Posted On 2016-08-02