Incidental Mutation 'R4050:Or4p20'
ID 314090
Institutional Source Beutler Lab
Gene Symbol Or4p20
Ensembl Gene ENSMUSG00000075125
Gene Name olfactory receptor family 4 subfamily P member 20
Synonyms Olfr1181, GA_x6K02T2Q125-49911636-49910701, MOR225-9P
MMRRC Submission 040968-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4050 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88253432-88254367 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88253967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 134 (M134T)
Ref Sequence ENSEMBL: ENSMUSP00000150939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099823] [ENSMUST00000102619] [ENSMUST00000213190] [ENSMUST00000216121] [ENSMUST00000217320]
AlphaFold Q7TR18
Predicted Effect probably damaging
Transcript: ENSMUST00000099823
AA Change: M134T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097411
Gene: ENSMUSG00000075125
AA Change: M134T

DomainStartEndE-ValueType
Pfam:7tm_4 28 303 1.5e-48 PFAM
Pfam:7tm_1 39 285 6.9e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102619
AA Change: M134T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099679
Gene: ENSMUSG00000075125
AA Change: M134T

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
Pfam:7tm_1 39 285 7.2e-26 PFAM
Pfam:7tm_4 137 278 3.5e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213190
AA Change: M134T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000216121
Predicted Effect probably benign
Transcript: ENSMUST00000217320
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,029,449 (GRCm39) D473G probably damaging Het
Abca1 T A 4: 53,044,144 (GRCm39) Q1826L probably damaging Het
Apob G A 12: 8,065,390 (GRCm39) V4087I probably benign Het
Atp10b G A 11: 43,150,363 (GRCm39) A1354T probably benign Het
Baz1a A G 12: 54,976,404 (GRCm39) V424A probably benign Het
Cdc20b G A 13: 113,200,819 (GRCm39) D180N probably benign Het
Cep57l1 G T 10: 41,605,356 (GRCm39) R130S probably damaging Het
Ddb1 A G 19: 10,605,171 (GRCm39) D1053G probably benign Het
Ddx39a T A 8: 84,448,863 (GRCm39) M246K probably benign Het
Dip2a G A 10: 76,114,441 (GRCm39) T1013M probably damaging Het
Edar G T 10: 58,445,769 (GRCm39) T265N possibly damaging Het
Fcgbpl1 T C 7: 27,852,410 (GRCm39) V1311A possibly damaging Het
Gbp8 T A 5: 105,179,104 (GRCm39) I132F probably damaging Het
Gga1 A G 15: 78,775,691 (GRCm39) D382G probably benign Het
Ggps1 T C 13: 14,228,284 (GRCm39) K300E probably benign Het
Gm10518 C A 1: 179,631,378 (GRCm39) probably benign Het
Gm8074 G A 9: 78,229,618 (GRCm39) noncoding transcript Het
H2-Eb1 T A 17: 34,533,342 (GRCm39) L188Q probably damaging Het
Heatr6 A G 11: 83,646,599 (GRCm39) S95G probably damaging Het
Hnf1a T A 5: 115,108,633 (GRCm39) N91Y probably damaging Het
Ints10 C T 8: 69,280,003 (GRCm39) S710F probably damaging Het
Kazn C T 4: 141,834,215 (GRCm39) E614K unknown Het
Kif26a T A 12: 112,146,350 (GRCm39) M1812K probably benign Het
Lmo7 A T 14: 102,139,713 (GRCm39) K488* probably null Het
Mad1l1 A G 5: 140,118,571 (GRCm39) S457P probably damaging Het
Met A G 6: 17,533,983 (GRCm39) T645A probably benign Het
Mpp4 T C 1: 59,185,903 (GRCm39) probably null Het
Mycl A T 4: 122,890,632 (GRCm39) probably null Het
Ncbp1 G A 4: 46,147,483 (GRCm39) R110H probably damaging Het
Nfasc G T 1: 132,538,043 (GRCm39) probably benign Het
Nup35 A G 2: 80,486,320 (GRCm39) I212V probably benign Het
Or2y8 T G 11: 52,035,961 (GRCm39) Y132S probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcgf5 G A 19: 36,420,311 (GRCm39) S181N probably damaging Het
Plk2 C T 13: 110,536,400 (GRCm39) T617I probably damaging Het
Polq A T 16: 36,913,182 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,440,881 (GRCm39) L92P probably damaging Het
Pramel24 T C 4: 143,453,692 (GRCm39) S267P probably benign Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Prune1 T C 3: 95,169,542 (GRCm39) K220R possibly damaging Het
Rab3gap2 G A 1: 185,004,840 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall3 G A 18: 81,014,697 (GRCm39) A1005V probably benign Het
Samd15 T G 12: 87,247,406 (GRCm39) N30K probably benign Het
Scn8a A T 15: 100,911,294 (GRCm39) K905* probably null Het
Scrib G A 15: 75,923,322 (GRCm39) R1245W possibly damaging Het
Skint4 C T 4: 111,981,811 (GRCm39) S260L probably benign Het
Slc29a2 A T 19: 5,079,481 (GRCm39) M339L possibly damaging Het
Slx9 T C 10: 77,350,164 (GRCm39) R75G possibly damaging Het
Spire1 G T 18: 67,662,101 (GRCm39) probably null Het
Synpo2 T C 3: 122,907,927 (GRCm39) D463G possibly damaging Het
Taf4 C A 2: 179,573,805 (GRCm39) G688C probably damaging Het
Tasor2 A G 13: 3,623,507 (GRCm39) S2148P probably benign Het
Tpte T A 8: 22,856,000 (GRCm39) V600E probably damaging Het
Ttn A G 2: 76,651,510 (GRCm39) V10953A probably benign Het
Vav2 A G 2: 27,181,415 (GRCm39) S311P probably damaging Het
Vav2 T C 2: 27,178,691 (GRCm39) Y333C probably benign Het
Zbtb26 A C 2: 37,327,000 (GRCm39) M1R probably null Het
Zfp26 G A 9: 20,353,525 (GRCm39) P88L probably benign Het
Zfp324 T C 7: 12,704,794 (GRCm39) F328L probably damaging Het
Other mutations in Or4p20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Or4p20 APN 2 88,254,130 (GRCm39) missense probably benign 0.30
IGL02224:Or4p20 APN 2 88,254,052 (GRCm39) splice site probably null
IGL03293:Or4p20 APN 2 88,253,571 (GRCm39) missense probably damaging 1.00
IGL02802:Or4p20 UTSW 2 88,253,832 (GRCm39) missense probably benign 0.23
R2214:Or4p20 UTSW 2 88,253,461 (GRCm39) missense probably benign 0.00
R2508:Or4p20 UTSW 2 88,253,800 (GRCm39) missense possibly damaging 0.95
R5404:Or4p20 UTSW 2 88,254,145 (GRCm39) missense probably damaging 0.98
R5727:Or4p20 UTSW 2 88,253,791 (GRCm39) missense probably benign 0.00
R6578:Or4p20 UTSW 2 88,253,488 (GRCm39) missense probably benign 0.12
R6663:Or4p20 UTSW 2 88,253,694 (GRCm39) missense probably benign 0.25
R6974:Or4p20 UTSW 2 88,254,156 (GRCm39) missense possibly damaging 0.93
R7042:Or4p20 UTSW 2 88,253,746 (GRCm39) missense possibly damaging 0.89
R7659:Or4p20 UTSW 2 88,254,270 (GRCm39) missense probably damaging 1.00
R8443:Or4p20 UTSW 2 88,253,745 (GRCm39) missense probably benign
R8470:Or4p20 UTSW 2 88,254,228 (GRCm39) missense probably damaging 1.00
R9479:Or4p20 UTSW 2 88,253,677 (GRCm39) missense probably damaging 0.99
R9546:Or4p20 UTSW 2 88,254,049 (GRCm39) missense probably benign
R9706:Or4p20 UTSW 2 88,253,779 (GRCm39) missense probably benign
R9735:Or4p20 UTSW 2 88,253,501 (GRCm39) missense probably damaging 1.00
X0018:Or4p20 UTSW 2 88,254,006 (GRCm39) missense probably benign
Z1177:Or4p20 UTSW 2 88,254,159 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AAAGGCAACCATTCCCGAATTG -3'
(R):5'- CTGTGTGACACCCAAATTGATTG -3'

Sequencing Primer
(F):5'- CACCAATGATGTAGGTATCAGTGC -3'
(R):5'- GGGGATCTGCTTGCCGAAAG -3'
Posted On 2015-04-30