Incidental Mutation 'IGL03056:Or4f54'
ID 409224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4f54
Ensembl Gene ENSMUSG00000068647
Gene Name olfactory receptor family 4 subfamily F member 54
Synonyms MOR245-11, Olfr1278, GA_x6K02T2Q125-72343713-72344654
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL03056
Quality Score
Status
Chromosome 2
Chromosomal Location 111122615-111123556 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111123517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 301 (R301S)
Ref Sequence ENSEMBL: ENSMUSP00000150587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090330] [ENSMUST00000213516] [ENSMUST00000213727] [ENSMUST00000214669] [ENSMUST00000215210] [ENSMUST00000216229]
AlphaFold Q8VF39
Predicted Effect possibly damaging
Transcript: ENSMUST00000090330
AA Change: R301S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087802
Gene: ENSMUSG00000068647
AA Change: R301S

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 2.3e-43 PFAM
Pfam:7TM_GPCR_Srsx 35 281 5.3e-6 PFAM
Pfam:7tm_1 41 288 1.1e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213516
AA Change: R301S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213727
AA Change: R301S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214669
AA Change: R301S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215210
AA Change: R301S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216229
AA Change: R301S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,647,862 (GRCm39) H1118R probably damaging Het
Aff1 G A 5: 103,958,947 (GRCm39) V339I probably damaging Het
Ank1 G T 8: 23,631,195 (GRCm39) V107F probably damaging Het
Aox3 T C 1: 58,198,180 (GRCm39) probably null Het
Cd160 T C 3: 96,713,127 (GRCm39) T46A probably benign Het
Cimip2a T A 2: 25,111,367 (GRCm39) M232K possibly damaging Het
Col20a1 A T 2: 180,636,682 (GRCm39) Y221F probably damaging Het
Ddx18 C T 1: 121,492,264 (GRCm39) A148T probably benign Het
Dennd5b A G 6: 148,956,570 (GRCm39) M307T probably damaging Het
Fam216b G A 14: 78,320,223 (GRCm39) H86Y probably benign Het
Fh1 A T 1: 175,433,728 (GRCm39) C374S probably damaging Het
Fkbp14 A G 6: 54,556,529 (GRCm39) V207A probably benign Het
Gucy1a1 T C 3: 82,020,594 (GRCm39) K101R probably benign Het
Kcnk2 G T 1: 189,027,908 (GRCm39) Q116K possibly damaging Het
Kdm5b C A 1: 134,515,717 (GRCm39) Q114K probably damaging Het
Kif12 C T 4: 63,085,193 (GRCm39) R516Q probably null Het
Lca5l C T 16: 95,962,551 (GRCm39) C463Y probably benign Het
Lgsn T A 1: 31,242,705 (GRCm39) Y262* probably null Het
Lig4 A G 8: 10,022,580 (GRCm39) I400T possibly damaging Het
Mink1 T A 11: 70,503,409 (GRCm39) probably null Het
Mprip T A 11: 59,662,518 (GRCm39) I2243N probably damaging Het
Myo1f A T 17: 33,804,574 (GRCm39) Y426F probably damaging Het
Naip2 T A 13: 100,298,795 (GRCm39) S414C possibly damaging Het
Nrg1 T C 8: 32,311,451 (GRCm39) I363V possibly damaging Het
Or52r1b A T 7: 102,690,958 (GRCm39) I86L possibly damaging Het
Serpinb9d T C 13: 33,386,736 (GRCm39) V268A probably damaging Het
Slc15a1 A G 14: 121,728,695 (GRCm39) F17L possibly damaging Het
Slc9a3 T A 13: 74,298,938 (GRCm39) V119E probably damaging Het
Sspo T A 6: 48,447,472 (GRCm39) M2346K probably benign Het
Tcf4 G T 18: 69,784,283 (GRCm39) probably benign Het
Trabd2b T C 4: 114,266,535 (GRCm39) V183A probably damaging Het
Ust T C 10: 8,083,326 (GRCm39) H350R probably benign Het
Zfp952 T A 17: 33,221,740 (GRCm39) V35E probably damaging Het
Other mutations in Or4f54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Or4f54 APN 2 111,122,864 (GRCm39) missense probably benign 0.11
IGL02301:Or4f54 APN 2 111,123,042 (GRCm39) missense probably benign 0.03
IGL02480:Or4f54 APN 2 111,122,858 (GRCm39) missense possibly damaging 0.66
IGL03327:Or4f54 APN 2 111,122,807 (GRCm39) missense probably damaging 1.00
R0284:Or4f54 UTSW 2 111,122,931 (GRCm39) missense probably benign 0.34
R1614:Or4f54 UTSW 2 111,123,411 (GRCm39) missense probably damaging 0.97
R1698:Or4f54 UTSW 2 111,122,905 (GRCm39) nonsense probably null
R1733:Or4f54 UTSW 2 111,123,210 (GRCm39) missense probably damaging 0.98
R2265:Or4f54 UTSW 2 111,123,524 (GRCm39) missense probably benign 0.01
R4857:Or4f54 UTSW 2 111,123,488 (GRCm39) missense possibly damaging 0.95
R5061:Or4f54 UTSW 2 111,122,832 (GRCm39) missense probably damaging 1.00
R5208:Or4f54 UTSW 2 111,122,946 (GRCm39) missense probably damaging 1.00
R5940:Or4f54 UTSW 2 111,122,729 (GRCm39) missense possibly damaging 0.80
R6355:Or4f54 UTSW 2 111,123,230 (GRCm39) missense probably benign 0.05
R6820:Or4f54 UTSW 2 111,123,455 (GRCm39) missense probably damaging 1.00
R8204:Or4f54 UTSW 2 111,123,485 (GRCm39) missense probably damaging 1.00
R8858:Or4f54 UTSW 2 111,123,503 (GRCm39) missense probably benign 0.02
R8991:Or4f54 UTSW 2 111,123,348 (GRCm39) missense probably damaging 0.99
R9493:Or4f54 UTSW 2 111,122,736 (GRCm39) missense probably damaging 1.00
R9517:Or4f54 UTSW 2 111,123,033 (GRCm39) missense possibly damaging 0.81
R9656:Or4f54 UTSW 2 111,122,633 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02