Incidental Mutation 'R4259:Or5p57'
ID 322564
Institutional Source Beutler Lab
Gene Symbol Or5p57
Ensembl Gene ENSMUSG00000063120
Gene Name olfactory receptor family 5 subfamily P member 57
Synonyms MOR204-32, GA_x6K02T2PBJ9-10395807-10394869, Olfr480
MMRRC Submission 041072-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R4259 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 107664975-107666002 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 107665100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 272 (K272*)
Ref Sequence ENSEMBL: ENSMUSP00000149301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071658] [ENSMUST00000217653]
AlphaFold Q8VEZ0
Predicted Effect probably null
Transcript: ENSMUST00000071658
AA Change: K302*
SMART Domains Protein: ENSMUSP00000071583
Gene: ENSMUSG00000063120
AA Change: K302*

DomainStartEndE-ValueType
Pfam:7tm_4 61 338 1.7e-50 PFAM
Pfam:7tm_1 71 320 1.4e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000084760
AA Change: K272*
SMART Domains Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: K272*

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.6e-49 PFAM
Pfam:7tm_1 41 290 8.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000217653
AA Change: K272*
Meta Mutation Damage Score 0.9718 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (40/41)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,214,066 (GRCm39) S298P probably damaging Het
4930407I10Rik A G 15: 81,947,927 (GRCm39) D608G possibly damaging Het
Actr10 T C 12: 70,999,759 (GRCm39) V185A probably benign Het
Cd248 A G 19: 5,118,866 (GRCm39) D238G probably damaging Het
Cep290 A C 10: 100,350,354 (GRCm39) E649D probably damaging Het
Cyp2b19 G A 7: 26,462,807 (GRCm39) G230S probably damaging Het
Dnah12 A G 14: 26,520,883 (GRCm39) I1901V probably benign Het
Garin1b C G 6: 29,320,800 (GRCm39) I141M probably damaging Het
Gpr171 A G 3: 59,004,948 (GRCm39) S276P probably damaging Het
Hap1 C A 11: 100,242,668 (GRCm39) probably null Het
Hcn1 A T 13: 118,111,884 (GRCm39) K616M unknown Het
Igkv4-90 T C 6: 68,784,461 (GRCm39) I18M possibly damaging Het
Itpr3 T A 17: 27,325,298 (GRCm39) V1297E probably damaging Het
Kmt2b T C 7: 30,280,506 (GRCm39) N1319D probably damaging Het
Krt72 T C 15: 101,686,692 (GRCm39) E418G probably damaging Het
Lama1 T C 17: 68,059,413 (GRCm39) S599P possibly damaging Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lrrk1 A T 7: 65,980,512 (GRCm39) Y223N probably damaging Het
Or8g50 A T 9: 39,648,999 (GRCm39) D296V probably damaging Het
Or8k30 A G 2: 86,339,343 (GRCm39) D180G probably damaging Het
Pde6c G A 19: 38,151,293 (GRCm39) G608S probably damaging Het
Pdgfrb A C 18: 61,210,703 (GRCm39) T737P probably benign Het
Pdk2 T C 11: 94,931,970 (GRCm39) D38G probably benign Het
Pgk2 T G 17: 40,518,274 (GRCm39) T385P probably benign Het
Prl3b1 T C 13: 27,427,889 (GRCm39) probably null Het
Sat1 T C X: 153,998,182 (GRCm39) probably benign Het
Sgo2b A T 8: 64,381,330 (GRCm39) F501I probably benign Het
Sgsm2 T A 11: 74,782,854 (GRCm39) H34L probably damaging Het
Slc26a1 T A 5: 108,820,496 (GRCm39) K250N probably damaging Het
Slc38a4 A G 15: 96,896,374 (GRCm39) Y498H probably damaging Het
Slc5a4b A G 10: 75,939,686 (GRCm39) L150P probably damaging Het
Tbc1d32 A G 10: 55,925,867 (GRCm39) S1093P probably damaging Het
Other mutations in Or5p57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Or5p57 APN 7 107,665,495 (GRCm39) missense probably benign 0.32
IGL02060:Or5p57 APN 7 107,665,878 (GRCm39) missense probably benign 0.03
IGL02392:Or5p57 APN 7 107,665,710 (GRCm39) missense probably benign 0.10
IGL02493:Or5p57 APN 7 107,665,012 (GRCm39) missense possibly damaging 0.79
IGL02634:Or5p57 APN 7 107,665,978 (GRCm39) missense probably benign 0.00
F5770:Or5p57 UTSW 7 107,665,885 (GRCm39) missense probably benign 0.11
R0446:Or5p57 UTSW 7 107,665,932 (GRCm39) nonsense probably null
R1070:Or5p57 UTSW 7 107,665,858 (GRCm39) missense probably benign 0.00
R1510:Or5p57 UTSW 7 107,665,735 (GRCm39) missense probably damaging 1.00
R1862:Or5p57 UTSW 7 107,665,932 (GRCm39) nonsense probably null
R1863:Or5p57 UTSW 7 107,665,932 (GRCm39) nonsense probably null
R1885:Or5p57 UTSW 7 107,665,985 (GRCm39) missense probably benign 0.00
R1886:Or5p57 UTSW 7 107,665,985 (GRCm39) missense probably benign 0.00
R1887:Or5p57 UTSW 7 107,665,985 (GRCm39) missense probably benign 0.00
R3609:Or5p57 UTSW 7 107,665,576 (GRCm39) missense probably damaging 1.00
R3921:Or5p57 UTSW 7 107,665,108 (GRCm39) missense possibly damaging 0.94
R5276:Or5p57 UTSW 7 107,665,423 (GRCm39) nonsense probably null
R6224:Or5p57 UTSW 7 107,665,949 (GRCm39) missense probably benign 0.00
R8059:Or5p57 UTSW 7 107,665,223 (GRCm39) missense probably benign 0.01
R8229:Or5p57 UTSW 7 107,665,794 (GRCm39) missense probably benign 0.01
R8271:Or5p57 UTSW 7 107,664,980 (GRCm39) missense probably damaging 0.99
R8926:Or5p57 UTSW 7 107,665,513 (GRCm39) missense probably benign 0.06
R9176:Or5p57 UTSW 7 107,665,246 (GRCm39) missense probably benign 0.05
V7581:Or5p57 UTSW 7 107,665,885 (GRCm39) missense probably benign 0.11
X0021:Or5p57 UTSW 7 107,665,795 (GRCm39) missense probably benign 0.01
X0066:Or5p57 UTSW 7 107,665,642 (GRCm39) missense probably benign 0.00
Z1088:Or5p57 UTSW 7 107,665,534 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATACTGCCATTTACCTGTAAGAGC -3'
(R):5'- TTCCAGCAATCTCTTCGGGATC -3'

Sequencing Primer
(F):5'- CCTGTAAGAGCAGAATTTACTGTTTG -3'
(R):5'- CGGGATCCATCATTGTGGTCAC -3'
Posted On 2015-06-20