Incidental Mutation 'IGL00984:Or4p21'
ID 27034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4p21
Ensembl Gene ENSMUSG00000075124
Gene Name olfactory receptor family 4 subfamily P member 21
Synonyms Gm13757, MOR225-16_p, MOR225-7P, GA_x6K02T2Q125-49934557-49933640, Olfr1182, MOR225-8P, MOR225-8P, Olfr1536-ps1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL00984
Quality Score
Status
Chromosome 2
Chromosomal Location 88276363-88279465 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88276539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 248 (F248I)
Ref Sequence ENSEMBL: ENSMUSP00000136580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102619] [ENSMUST00000126038] [ENSMUST00000179450]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000102619
AA Change: F248I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099679
Gene: ENSMUSG00000075125
AA Change: F248I

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: ENSMUST00000126038
AA Change: F248I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000179450
AA Change: F248I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136580
Gene: ENSMUSG00000090097
AA Change: F248I

DomainStartEndE-ValueType
Pfam:7tm_4 26 303 1.4e-49 PFAM
Pfam:7tm_1 39 285 1.5e-13 PFAM
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
Adam26b T A 8: 43,973,410 (GRCm39) N531Y possibly damaging Het
Adamts12 G A 15: 11,215,696 (GRCm39) R239K probably benign Het
Alppl2 T A 1: 87,016,534 (GRCm39) H180L probably damaging Het
Atp10a T C 7: 58,308,489 (GRCm39) V96A probably damaging Het
Atp2c1 T A 9: 105,295,778 (GRCm39) I649F probably damaging Het
Atp6v1h A G 1: 5,165,905 (GRCm39) Y125C probably damaging Het
Cds2 T C 2: 132,140,441 (GRCm39) V213A probably benign Het
Csnk1a1 A G 18: 61,708,624 (GRCm39) probably benign Het
Ctdspl2 C T 2: 121,799,767 (GRCm39) probably benign Het
Dohh G A 10: 81,223,756 (GRCm39) probably null Het
Dst A T 1: 34,295,401 (GRCm39) D5971V probably damaging Het
Focad G T 4: 88,263,022 (GRCm39) M1006I unknown Het
Garin5b C T 7: 4,760,526 (GRCm39) V729M probably damaging Het
Iqgap1 T C 7: 80,376,546 (GRCm39) D1322G probably damaging Het
Mcm3ap G T 10: 76,335,400 (GRCm39) S1274I probably damaging Het
Mrpl42 C T 10: 95,326,202 (GRCm39) V97I probably benign Het
Pabpc6 A T 17: 9,887,618 (GRCm39) L311H probably damaging Het
Pdzrn3 A T 6: 101,331,447 (GRCm39) S276T probably benign Het
Pi4ka A T 16: 17,176,796 (GRCm39) C383* probably null Het
Pik3r6 A G 11: 68,424,445 (GRCm39) D350G probably benign Het
Ptcd1 C T 5: 145,102,239 (GRCm39) V27I probably benign Het
Ranbp2 A T 10: 58,297,786 (GRCm39) R398* probably null Het
Rpl3l T C 17: 24,954,445 (GRCm39) C336R probably damaging Het
Rxfp2 T C 5: 149,990,597 (GRCm39) S443P probably benign Het
Sec24b T C 3: 129,814,295 (GRCm39) probably benign Het
Septin11 T C 5: 93,310,043 (GRCm39) M282T possibly damaging Het
Syt16 C T 12: 74,269,604 (GRCm39) Q148* probably null Het
Timm23 A G 14: 31,902,612 (GRCm39) I177T probably benign Het
Treh A G 9: 44,594,264 (GRCm39) probably benign Het
Vmn1r71 A G 7: 10,482,046 (GRCm39) V214A probably damaging Het
Zfp715 G A 7: 42,949,208 (GRCm39) P251S probably benign Het
Other mutations in Or4p21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01986:Or4p21 APN 2 88,276,839 (GRCm39) missense probably benign 0.00
IGL02416:Or4p21 APN 2 88,277,174 (GRCm39) missense probably benign 0.38
IGL03018:Or4p21 APN 2 88,277,163 (GRCm39) missense probably damaging 1.00
R0241:Or4p21 UTSW 2 88,276,889 (GRCm39) missense possibly damaging 0.48
R0241:Or4p21 UTSW 2 88,276,889 (GRCm39) missense possibly damaging 0.48
R0627:Or4p21 UTSW 2 88,276,563 (GRCm39) missense probably damaging 1.00
R0634:Or4p21 UTSW 2 88,276,961 (GRCm39) missense probably benign 0.10
R1305:Or4p21 UTSW 2 88,276,646 (GRCm39) nonsense probably null
R1353:Or4p21 UTSW 2 88,276,895 (GRCm39) missense probably benign 0.42
R1765:Or4p21 UTSW 2 88,276,367 (GRCm39) missense probably damaging 1.00
R1974:Or4p21 UTSW 2 88,276,853 (GRCm39) missense probably damaging 0.97
R1990:Or4p21 UTSW 2 88,277,033 (GRCm39) missense probably damaging 1.00
R2196:Or4p21 UTSW 2 88,277,054 (GRCm39) missense probably benign 0.10
R2974:Or4p21 UTSW 2 88,276,918 (GRCm39) nonsense probably null
R4794:Or4p21 UTSW 2 88,276,691 (GRCm39) missense probably benign 0.12
R5495:Or4p21 UTSW 2 88,276,401 (GRCm39) missense probably benign 0.03
R5771:Or4p21 UTSW 2 88,276,652 (GRCm39) missense possibly damaging 0.94
R6654:Or4p21 UTSW 2 88,277,016 (GRCm39) missense possibly damaging 0.80
R6756:Or4p21 UTSW 2 88,277,078 (GRCm39) missense possibly damaging 0.78
R8070:Or4p21 UTSW 2 88,277,003 (GRCm39) missense probably benign 0.00
Posted On 2013-04-17