Incidental Mutation 'IGL02267:Or5ak4'
ID 286928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5ak4
Ensembl Gene ENSMUSG00000075223
Gene Name olfactory receptor family 5 subfamily AK member 4
Synonyms Olfr987, MOR203-7P, GA_x6K02T2Q125-46808500-46807571
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02267
Quality Score
Status
Chromosome 2
Chromosomal Location 85161311-85162240 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85161465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 259 (Y259F)
Ref Sequence ENSEMBL: ENSMUSP00000150619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099929] [ENSMUST00000111598] [ENSMUST00000216347]
AlphaFold Q7TRA2
Predicted Effect probably damaging
Transcript: ENSMUST00000099929
AA Change: Y259F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097513
Gene: ENSMUSG00000075223
AA Change: Y259F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.4e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 254 5.9e-6 PFAM
Pfam:7tm_1 41 290 1.9e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111598
AA Change: Y259F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107225
Gene: ENSMUSG00000075223
AA Change: Y259F

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 254 5.9e-6 PFAM
Pfam:7tm_1 41 290 1.7e-31 PFAM
Pfam:7tm_4 139 283 6.6e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216347
AA Change: Y259F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,683,505 (GRCm39) Q929R probably benign Het
Aplf A T 6: 87,635,946 (GRCm39) D122E probably damaging Het
Atp2a3 T A 11: 72,878,810 (GRCm39) L874Q probably damaging Het
Atp2b2 A T 6: 113,770,691 (GRCm39) L406Q probably damaging Het
Atp6v1b1 A G 6: 83,733,891 (GRCm39) D374G probably benign Het
Bcas1 T A 2: 170,220,708 (GRCm39) R239* probably null Het
Bhmt2 A G 13: 93,805,854 (GRCm39) V56A probably damaging Het
Cage1 T C 13: 38,207,233 (GRCm39) E204G probably damaging Het
Ccdc157 G A 11: 4,094,035 (GRCm39) A532V probably benign Het
Cd300lb G A 11: 114,819,303 (GRCm39) R109* probably null Het
Clca4c-ps T C 3: 144,585,516 (GRCm39) noncoding transcript Het
Ctnna3 G T 10: 64,781,777 (GRCm39) V747F probably benign Het
Cyp2c29 A T 19: 39,318,866 (GRCm39) I488F probably benign Het
Cyp3a25 T C 5: 145,935,362 (GRCm39) M85V possibly damaging Het
Dnah7b T A 1: 46,266,090 (GRCm39) Y2220N probably damaging Het
Espl1 A G 15: 102,224,099 (GRCm39) I1217V probably benign Het
Exoc2 A G 13: 30,999,304 (GRCm39) S918P probably benign Het
Fer1l4 T A 2: 155,873,172 (GRCm39) I1303F possibly damaging Het
Gm28047 A T 15: 102,455,662 (GRCm39) I234K probably damaging Het
Gpcpd1 A G 2: 132,410,630 (GRCm39) V19A probably damaging Het
Gprin3 A G 6: 59,331,458 (GRCm39) V283A probably benign Het
Grb14 A G 2: 64,783,960 (GRCm39) Y56H probably damaging Het
Greb1 A G 12: 16,767,209 (GRCm39) F331S probably benign Het
Iigp1c T G 18: 60,379,470 (GRCm39) V335G probably damaging Het
Jkamp A G 12: 72,141,591 (GRCm39) Y198C probably damaging Het
Klk1b11 G T 7: 43,649,165 (GRCm39) C234F probably damaging Het
Nacad T C 11: 6,552,649 (GRCm39) T181A probably benign Het
Or1e23 A G 11: 73,407,375 (GRCm39) S217P probably benign Het
Or2m13 A T 16: 19,225,914 (GRCm39) L285Q possibly damaging Het
Pitpnm3 A T 11: 71,962,274 (GRCm39) I227N probably benign Het
Pnn A G 12: 59,116,995 (GRCm39) E189G probably damaging Het
Pnpla2 C A 7: 141,038,122 (GRCm39) P197T probably damaging Het
Pnpla6 A G 8: 3,567,327 (GRCm39) T62A probably benign Het
Ptprq G T 10: 107,482,419 (GRCm39) D1051E probably damaging Het
Rag2 C T 2: 101,460,376 (GRCm39) R229C probably damaging Het
Serinc1 A T 10: 57,399,204 (GRCm39) I196N probably damaging Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc26a9 T C 1: 131,680,583 (GRCm39) C43R probably damaging Het
Slc2a3 A T 6: 122,716,931 (GRCm39) Y44N probably benign Het
Smad5 T G 13: 56,883,603 (GRCm39) probably benign Het
Sugct C A 13: 17,819,450 (GRCm39) V132F possibly damaging Het
Supt6 T C 11: 78,117,030 (GRCm39) E568G possibly damaging Het
Tfpt T C 7: 3,631,982 (GRCm39) T43A probably damaging Het
Timp4 A T 6: 115,224,240 (GRCm39) V143E possibly damaging Het
Tns1 T C 1: 74,031,290 (GRCm39) D275G possibly damaging Het
Trib1 A G 15: 59,523,449 (GRCm39) E161G probably damaging Het
Trpc7 A T 13: 57,008,743 (GRCm39) L308Q probably damaging Het
Ush1c A T 7: 45,858,722 (GRCm39) V522E possibly damaging Het
Usp28 T C 9: 48,935,265 (GRCm39) V449A probably damaging Het
Vmn1r82 A G 7: 12,039,273 (GRCm39) Y64C probably damaging Het
Wwox G A 8: 115,438,805 (GRCm39) M290I probably benign Het
Other mutations in Or5ak4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Or5ak4 APN 2 85,161,945 (GRCm39) missense probably benign 0.37
IGL03167:Or5ak4 APN 2 85,161,664 (GRCm39) missense probably benign 0.01
IGL03195:Or5ak4 APN 2 85,161,864 (GRCm39) missense probably damaging 1.00
R0918:Or5ak4 UTSW 2 85,162,276 (GRCm39) intron probably benign
R1573:Or5ak4 UTSW 2 85,161,687 (GRCm39) missense probably damaging 1.00
R1956:Or5ak4 UTSW 2 85,161,444 (GRCm39) missense probably benign 0.00
R2165:Or5ak4 UTSW 2 85,161,446 (GRCm39) missense probably benign
R4086:Or5ak4 UTSW 2 85,162,170 (GRCm39) missense probably benign 0.35
R5386:Or5ak4 UTSW 2 85,161,979 (GRCm39) missense probably benign 0.00
R5652:Or5ak4 UTSW 2 85,161,717 (GRCm39) missense probably damaging 1.00
R6753:Or5ak4 UTSW 2 85,162,142 (GRCm39) missense probably benign
R6755:Or5ak4 UTSW 2 85,162,142 (GRCm39) missense probably benign
R8347:Or5ak4 UTSW 2 85,162,047 (GRCm39) missense probably damaging 0.99
R9158:Or5ak4 UTSW 2 85,161,348 (GRCm39) missense probably benign 0.00
R9470:Or5ak4 UTSW 2 85,161,673 (GRCm39) missense probably damaging 1.00
Z1176:Or5ak4 UTSW 2 85,162,237 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16