Incidental Mutation 'IGL03167:Or5ak4'
ID 411673
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: 0.065) question?
Stock # IGL03167
Quality Score
Status
Chromosome 2
Chromosomal Location 85161311-85162240 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 85161664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 193 (D193N)
Ref Sequence ENSEMBL: ENSMUSP00000150619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099929] [ENSMUST00000111598] [ENSMUST00000216347]
AlphaFold Q7TRA2
Predicted Effect probably benign
Transcript: ENSMUST00000099929
AA Change: D193N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000097513
Gene: ENSMUSG00000075223
AA Change: D193N

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 benign
Transcript: ENSMUST00000111598
AA Change: D193N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000107225
Gene: ENSMUSG00000075223
AA Change: D193N

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 benign
Transcript: ENSMUST00000216347
AA Change: D193N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A C 6: 34,834,594 (GRCm39) K921T possibly damaging Het
Agtpbp1 A T 13: 59,679,894 (GRCm39) probably benign Het
Ankrd22 A T 19: 34,143,174 (GRCm39) M1K probably null Het
Ano5 G A 7: 51,235,259 (GRCm39) V698I probably damaging Het
Ccnh A G 13: 85,345,685 (GRCm39) probably benign Het
Col15a1 A T 4: 47,282,635 (GRCm39) I771F probably damaging Het
Dmrt1 T C 19: 25,523,257 (GRCm39) S203P possibly damaging Het
Exoc5 A T 14: 49,288,802 (GRCm39) V82E probably damaging Het
Ffar3 A T 7: 30,554,780 (GRCm39) V180E probably damaging Het
Fhad1 T C 4: 141,700,108 (GRCm39) S381G probably benign Het
Foxf1 C A 8: 121,811,647 (GRCm39) Y170* probably null Het
Glis1 A G 4: 107,293,102 (GRCm39) D75G possibly damaging Het
Gpr151 T C 18: 42,711,439 (GRCm39) H413R probably benign Het
Gtf3c1 T C 7: 125,269,752 (GRCm39) probably null Het
Htt T A 5: 34,976,330 (GRCm39) F711I probably damaging Het
Il1rapl1 A G X: 85,790,867 (GRCm39) I691T possibly damaging Het
Iqgap2 T C 13: 95,821,406 (GRCm39) Y579C probably benign Het
Lingo3 A G 10: 80,671,178 (GRCm39) S251P probably damaging Het
Mbl1 T A 14: 40,880,543 (GRCm39) S144T probably benign Het
Musk A T 4: 58,366,821 (GRCm39) R462W possibly damaging Het
Mynn T C 3: 30,663,191 (GRCm39) L373P probably damaging Het
Myoz2 G A 3: 122,800,139 (GRCm39) R230* probably null Het
Nup35 A G 2: 80,488,660 (GRCm39) probably benign Het
Or14a259 C T 7: 86,013,128 (GRCm39) C139Y probably damaging Het
Or2d4 A G 7: 106,543,852 (GRCm39) S119P probably damaging Het
Or5m3 T A 2: 85,838,511 (GRCm39) Y130* probably null Het
Pira2 A T 7: 3,843,919 (GRCm39) S618T probably damaging Het
Plch1 G A 3: 63,630,165 (GRCm39) probably benign Het
Pparg T G 6: 115,450,188 (GRCm39) F396V probably damaging Het
Scaper T C 9: 55,767,108 (GRCm39) E441G probably damaging Het
Serpinb2 T A 1: 107,450,485 (GRCm39) C161S probably benign Het
Skint5 C T 4: 113,751,047 (GRCm39) E333K unknown Het
Slc22a8 C T 19: 8,587,322 (GRCm39) P461S probably damaging Het
Slc38a6 C T 12: 73,397,311 (GRCm39) Q318* probably null Het
Sycp2 T C 2: 178,021,291 (GRCm39) K512E probably damaging Het
Tas2r103 T A 6: 133,013,623 (GRCm39) N148Y probably damaging Het
Tcf7l1 A G 6: 72,609,979 (GRCm39) M257T possibly damaging Het
Tert T A 13: 73,788,119 (GRCm39) N792K probably damaging Het
Thada A T 17: 84,766,277 (GRCm39) V43E probably damaging Het
Trabd2b T C 4: 114,467,195 (GRCm39) S475P probably benign Het
Vmn2r117 A G 17: 23,696,681 (GRCm39) V242A probably damaging Het
Ypel3 A T 7: 126,379,247 (GRCm39) I107F probably damaging Het
Zfp352 T C 4: 90,112,939 (GRCm39) S360P probably damaging Het
Other mutations in Or5ak4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Or5ak4 APN 2 85,161,945 (GRCm39) missense probably benign 0.37
IGL02267:Or5ak4 APN 2 85,161,465 (GRCm39) missense probably damaging 1.00
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 2016-08-02