Incidental Mutation 'IGL00324:Or4p20'
ID 7127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4p20
Ensembl Gene ENSMUSG00000075125
Gene Name olfactory receptor family 4 subfamily P member 20
Synonyms Olfr1181, GA_x6K02T2Q125-49911636-49910701, MOR225-9P
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL00324
Quality Score
Status
Chromosome 2
Chromosomal Location 88253432-88254367 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88254130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 80 (I80V)
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: I80V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097411
Gene: ENSMUSG00000075125
AA Change: I80V

DomainStartEndE-ValueType
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: I80V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099679
Gene: ENSMUSG00000075125
AA Change: I80V

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 benign
Transcript: ENSMUST00000213190
AA Change: I80V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216121
Predicted Effect probably benign
Transcript: ENSMUST00000217320
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 T C 3: 121,570,642 (GRCm39) probably benign Het
Cdk12 T A 11: 98,136,214 (GRCm39) L1156Q unknown Het
Ctsl T C 13: 64,515,982 (GRCm39) Y66C probably damaging Het
Esd C T 14: 74,973,467 (GRCm39) H21Y probably damaging Het
Fcrlb A C 1: 170,736,393 (GRCm39) Y128D possibly damaging Het
Gm17027 A T 14: 41,981,267 (GRCm39) N196K unknown Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Hpcal1 A G 12: 17,841,146 (GRCm39) S175G probably benign Het
Itgam A T 7: 127,684,833 (GRCm39) D401V probably damaging Het
Kank1 A G 19: 25,389,122 (GRCm39) T932A probably benign Het
Lmod1 A G 1: 135,292,216 (GRCm39) K357R probably benign Het
Muc4 A G 16: 32,599,186 (GRCm39) I3271V probably benign Het
Nlrc5 A G 8: 95,248,107 (GRCm39) K1692E probably damaging Het
Ocln A G 13: 100,671,521 (GRCm39) W279R probably damaging Het
Pcsk1 A G 13: 75,280,206 (GRCm39) K677R probably benign Het
Pitrm1 T A 13: 6,618,702 (GRCm39) L586Q probably damaging Het
Plppr3 G A 10: 79,702,503 (GRCm39) S217L probably damaging Het
Pnldc1 A T 17: 13,124,645 (GRCm39) probably benign Het
Pramel12 T A 4: 143,143,237 (GRCm39) M1K probably null Het
Pramel13 A G 4: 144,121,310 (GRCm39) L238P possibly damaging Het
Sema6b C T 17: 56,437,048 (GRCm39) D204N probably damaging Het
Slc12a5 A G 2: 164,839,041 (GRCm39) N1063S probably damaging Het
Tg T C 15: 66,565,273 (GRCm39) V1205A probably benign Het
Tmem260 T C 14: 48,724,336 (GRCm39) F205L probably benign Het
Trappc11 A T 8: 47,956,337 (GRCm39) probably benign Het
Tsen34 A G 7: 3,703,530 (GRCm39) *296W probably null Het
Ubr2 A G 17: 47,296,986 (GRCm39) probably benign Het
Vmn2r23 T A 6: 123,706,684 (GRCm39) W505R possibly damaging Het
Wbp11 A G 6: 136,798,668 (GRCm39) probably benign Het
Znfx1 A T 2: 166,878,649 (GRCm39) M1909K possibly damaging Het
Other mutations in Or4p20
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20