Incidental Mutation 'IGL02198:Or4f56'
ID 284131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4f56
Ensembl Gene ENSMUSG00000074955
Gene Name olfactory receptor family 4 subfamily F member 56
Synonyms MOR245-8, Olfr1305, GA_x6K02T2Q125-72930843-72929905
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL02198
Quality Score
Status
Chromosome 2
Chromosomal Location 111703260-111704198 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111703593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 202 (N202K)
Ref Sequence ENSEMBL: ENSMUSP00000149852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099608] [ENSMUST00000213405] [ENSMUST00000213737]
AlphaFold A2AVW3
Predicted Effect probably damaging
Transcript: ENSMUST00000099608
AA Change: N202K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097203
Gene: ENSMUSG00000074955
AA Change: N202K

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 1.4e-41 PFAM
Pfam:7TM_GPCR_Srsx 35 302 6.8e-7 PFAM
Pfam:7tm_1 41 287 4.1e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213405
AA Change: N202K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213737
AA Change: N202K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216310
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A G 2: 131,388,412 (GRCm39) I381T probably damaging Het
Armt1 T A 10: 4,404,064 (GRCm39) F383Y possibly damaging Het
Cdca2 A G 14: 67,932,445 (GRCm39) V486A probably benign Het
Cep78 A G 19: 15,933,733 (GRCm39) L615S probably damaging Het
Clec2h C A 6: 128,650,979 (GRCm39) C86* probably null Het
Cntnap5a C T 1: 116,508,262 (GRCm39) T1258I probably benign Het
Dhrs7c T A 11: 67,706,628 (GRCm39) M262K possibly damaging Het
Dmpk C A 7: 18,822,117 (GRCm39) F332L probably damaging Het
Dnaaf4 G A 9: 72,876,348 (GRCm39) V308I probably benign Het
Fap A G 2: 62,385,142 (GRCm39) F73L probably benign Het
Igsf10 A T 3: 59,233,399 (GRCm39) I1778N possibly damaging Het
Il6ra T C 3: 89,797,655 (GRCm39) T71A probably benign Het
Itpr2 C A 6: 146,224,725 (GRCm39) A1389S probably damaging Het
Mob3b T C 4: 35,083,983 (GRCm39) N69D probably damaging Het
Nr1h3 A G 2: 91,023,070 (GRCm39) W21R probably damaging Het
Ovca2 A G 11: 75,069,596 (GRCm39) V9A possibly damaging Het
Ovch2 T A 7: 107,394,041 (GRCm39) K137N probably damaging Het
Pabpc1l A G 2: 163,869,536 (GRCm39) N112S probably damaging Het
Plekho1 T A 3: 95,899,496 (GRCm39) N99I probably damaging Het
Recql5 A C 11: 115,785,499 (GRCm39) S666A probably benign Het
Scn3a G T 2: 65,338,833 (GRCm39) H615Q probably benign Het
Sel1l3 A G 5: 53,297,141 (GRCm39) probably benign Het
Slc38a2 A T 15: 96,590,258 (GRCm39) S328T probably damaging Het
Taok1 T C 11: 77,466,503 (GRCm39) probably benign Het
Tsnax T A 8: 125,759,451 (GRCm39) Y237* probably null Het
Ttn T A 2: 76,544,974 (GRCm39) K24382N probably damaging Het
Ugt1a9 T A 1: 87,999,165 (GRCm39) V205E possibly damaging Het
Unc80 C A 1: 66,569,145 (GRCm39) D933E possibly damaging Het
Vnn1 A T 10: 23,779,323 (GRCm39) T411S probably benign Het
Wdr27 C A 17: 15,128,860 (GRCm39) G531V possibly damaging Het
Zfp760 G T 17: 21,941,193 (GRCm39) V123L probably benign Het
Other mutations in Or4f56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Or4f56 APN 2 111,703,295 (GRCm39) missense probably benign 0.03
IGL02277:Or4f56 APN 2 111,703,925 (GRCm39) missense possibly damaging 0.91
IGL02302:Or4f56 APN 2 111,703,887 (GRCm39) missense possibly damaging 0.76
IGL03348:Or4f56 APN 2 111,703,493 (GRCm39) missense probably damaging 0.99
PIT4131001:Or4f56 UTSW 2 111,703,649 (GRCm39) missense probably benign 0.02
R2144:Or4f56 UTSW 2 111,703,768 (GRCm39) missense probably damaging 0.96
R2860:Or4f56 UTSW 2 111,703,818 (GRCm39) nonsense probably null
R2861:Or4f56 UTSW 2 111,703,818 (GRCm39) nonsense probably null
R3785:Or4f56 UTSW 2 111,703,831 (GRCm39) missense probably damaging 0.99
R4474:Or4f56 UTSW 2 111,703,784 (GRCm39) missense possibly damaging 0.52
R4508:Or4f56 UTSW 2 111,703,947 (GRCm39) missense probably damaging 1.00
R4540:Or4f56 UTSW 2 111,703,546 (GRCm39) missense probably damaging 1.00
R4783:Or4f56 UTSW 2 111,703,395 (GRCm39) missense possibly damaging 0.95
R4784:Or4f56 UTSW 2 111,703,395 (GRCm39) missense possibly damaging 0.95
R4785:Or4f56 UTSW 2 111,703,395 (GRCm39) missense possibly damaging 0.95
R5410:Or4f56 UTSW 2 111,703,637 (GRCm39) missense probably damaging 1.00
R5491:Or4f56 UTSW 2 111,703,907 (GRCm39) missense probably benign 0.44
R6875:Or4f56 UTSW 2 111,703,306 (GRCm39) missense possibly damaging 0.92
R7185:Or4f56 UTSW 2 111,704,167 (GRCm39) missense possibly damaging 0.89
R7992:Or4f56 UTSW 2 111,703,280 (GRCm39) missense probably benign
R9100:Or4f56 UTSW 2 111,703,606 (GRCm39) missense possibly damaging 0.61
Posted On 2015-04-16