Incidental Mutation 'R6663:Or4p20'
ID 526862
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 044783-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R6663 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88253432-88254367 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88253694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 225 (N225I)
Ref Sequence ENSEMBL: ENSMUSP00000150939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099823] [ENSMUST00000102619] [ENSMUST00000213190] [ENSMUST00000216121] [ENSMUST00000217320]
AlphaFold Q7TR18
Predicted Effect probably benign
Transcript: ENSMUST00000099823
AA Change: N225I

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097411
Gene: ENSMUSG00000075125
AA Change: N225I

Pfam:7tm_4 28 303 1.5e-48 PFAM
Pfam:7tm_1 39 285 6.9e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102619
AA Change: N225I

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099679
Gene: ENSMUSG00000075125
AA Change: N225I

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 benign
Transcript: ENSMUST00000213190
AA Change: N225I

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000216121
Predicted Effect probably benign
Transcript: ENSMUST00000217320
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency 100% (32/32)
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
Ankrd17 A G 5: 90,411,923 (GRCm39) S1314P probably damaging Het
Btbd3 T A 2: 138,121,003 (GRCm39) I59K probably benign Het
Clcn2 A G 16: 20,521,995 (GRCm39) *865R probably null Het
Col22a1 T C 15: 71,691,908 (GRCm39) Q749R unknown Het
Cpsf2 T C 12: 101,965,852 (GRCm39) Y606H probably damaging Het
Csn1s1 T C 5: 87,823,599 (GRCm39) V154A probably benign Het
Cux1 T A 5: 136,514,701 (GRCm39) E23V probably damaging Het
Cyp2j9 C A 4: 96,467,679 (GRCm39) W269L probably benign Het
Dbf4 T C 5: 8,453,184 (GRCm39) M273V probably benign Het
Dnhd1 A G 7: 105,334,899 (GRCm39) probably null Het
Fezf1 A G 6: 23,247,527 (GRCm39) S183P probably damaging Het
Irx2 A G 13: 72,777,248 (GRCm39) Y23C probably damaging Het
Itga1 A T 13: 115,110,641 (GRCm39) N983K probably benign Het
Kifc1 A G 17: 34,100,430 (GRCm39) probably benign Het
Lrrc14b T C 13: 74,509,480 (GRCm39) N309S probably damaging Het
Lyst A T 13: 13,838,701 (GRCm39) probably null Het
Map1b T C 13: 99,566,530 (GRCm39) T2064A unknown Het
Mark3 T A 12: 111,541,517 (GRCm39) N11K probably benign Het
Med6 T A 12: 81,628,649 (GRCm39) D80V possibly damaging Het
Mfhas1 A G 8: 36,056,272 (GRCm39) E249G probably damaging Het
Mroh2b A G 15: 4,977,417 (GRCm39) I1256M probably benign Het
Nkx2-9 G T 12: 56,658,723 (GRCm39) R164S probably benign Het
Phf10 T C 17: 15,179,774 (GRCm39) D33G probably null Het
Plekha5 A G 6: 140,523,016 (GRCm39) M719V probably damaging Het
Pln A G 10: 53,219,792 (GRCm39) probably benign Het
Prg4 G A 1: 150,330,852 (GRCm39) probably benign Het
Slc35b3 A G 13: 39,138,112 (GRCm39) L99P probably damaging Het
Tbccd1 AT ATGT 16: 22,652,778 (GRCm39) probably null Het
Ube2j1 C T 4: 33,045,198 (GRCm39) S157L probably damaging Het
Zfp462 A G 4: 55,008,933 (GRCm39) T300A possibly damaging Het
Zfp668 G A 7: 127,466,941 (GRCm39) R212C probably damaging Het
Zup1 A G 10: 33,825,431 (GRCm39) M17T possibly 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
R4050:Or4p20 UTSW 2 88,253,967 (GRCm39) missense probably damaging 0.99
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
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

Sequencing Primer
Posted On 2018-07-23