Incidental Mutation 'IGL03246:Or5ae1'
ID 414399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5ae1
Ensembl Gene ENSMUSG00000116179
Gene Name olfactory receptor family 5 subfamily AE member 1
Synonyms Olfr290, GA_x6K02T2NHDJ-11170115-11169168, MOR254-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # IGL03246
Quality Score
Status
Chromosome 7
Chromosomal Location 84564989-84565936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84565919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 311 (C311R)
Ref Sequence ENSEMBL: ENSMUSP00000149523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073468] [ENSMUST00000214501] [ENSMUST00000216184] [ENSMUST00000216367]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000073468
AA Change: C311R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: C311R

DomainStartEndE-ValueType
Pfam:7tm_4 31 309 8.4e-53 PFAM
Pfam:7TM_GPCR_Srsx 35 304 1.2e-10 PFAM
Pfam:7tm_1 41 291 1.3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173463
Predicted Effect probably benign
Transcript: ENSMUST00000214501
AA Change: C311R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000216184
AA Change: C311R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000216367
AA Change: C311R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,303,238 (GRCm39) H392Q probably benign Het
Alox8 T A 11: 69,076,841 (GRCm39) I547L probably damaging Het
Capn13 T C 17: 73,689,855 (GRCm39) H52R probably benign Het
Cfap57 T A 4: 118,433,842 (GRCm39) I979L probably benign Het
Ctdnep1 T C 11: 69,875,156 (GRCm39) probably benign Het
Ercc5 C A 1: 44,206,241 (GRCm39) P385T probably damaging Het
Fam98a C T 17: 75,845,848 (GRCm39) M299I probably damaging Het
Flcn A T 11: 59,684,936 (GRCm39) I505N possibly damaging Het
Fn1 G A 1: 71,663,455 (GRCm39) T1011I possibly damaging Het
Klhl28 T C 12: 65,004,060 (GRCm39) D151G probably benign Het
Klk13 T A 7: 43,370,422 (GRCm39) N28K probably damaging Het
Macc1 T C 12: 119,410,420 (GRCm39) V396A probably benign Het
Mageb11 C A X: 89,936,008 (GRCm39) H87Q probably benign Het
Magi2 T A 5: 20,563,948 (GRCm39) I360K probably damaging Het
Myh7b T C 2: 155,459,792 (GRCm39) I251T probably damaging Het
Naalad2 A T 9: 18,296,395 (GRCm39) I85K possibly damaging Het
Pbrm1 A T 14: 30,832,506 (GRCm39) M1490L probably benign Het
Pclo C T 5: 14,727,631 (GRCm39) probably benign Het
Pdcd6ip T C 9: 113,507,485 (GRCm39) K357R possibly damaging Het
Pnpla6 C T 8: 3,581,530 (GRCm39) T601I probably benign Het
Pof1b A T X: 111,557,817 (GRCm39) N366K probably benign Het
Prr9 A G 3: 92,030,286 (GRCm39) probably benign Het
Ptprz1 G T 6: 22,986,159 (GRCm39) A320S probably damaging Het
Ripor1 A G 8: 106,342,490 (GRCm39) Y187C possibly damaging Het
Rnf13 A G 3: 57,676,471 (GRCm39) E42G probably damaging Het
Sdf4 T C 4: 156,085,154 (GRCm39) V163A probably benign Het
Smc2 C T 4: 52,440,301 (GRCm39) Q16* probably null Het
Srsf3-ps T A 11: 98,516,119 (GRCm39) R85* probably null Het
Tbck T A 3: 132,480,331 (GRCm39) C737S probably benign Het
Tra2a A T 6: 49,226,019 (GRCm39) Y140* probably null Het
Vcpip1 A C 1: 9,816,182 (GRCm39) L734V probably benign Het
Vmn1r87 G A 7: 12,866,288 (GRCm39) probably benign Het
Other mutations in Or5ae1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Or5ae1 APN 7 84,565,578 (GRCm39) missense probably damaging 0.99
IGL01322:Or5ae1 APN 7 84,565,590 (GRCm39) missense probably damaging 0.99
IGL01834:Or5ae1 APN 7 84,565,860 (GRCm39) missense probably damaging 1.00
IGL02556:Or5ae1 APN 7 84,565,567 (GRCm39) nonsense probably null
IGL03255:Or5ae1 APN 7 84,565,725 (GRCm39) missense possibly damaging 0.95
R0322:Or5ae1 UTSW 7 84,565,521 (GRCm39) missense probably damaging 1.00
R1253:Or5ae1 UTSW 7 84,565,917 (GRCm39) missense probably benign
R1652:Or5ae1 UTSW 7 84,565,728 (GRCm39) missense probably damaging 1.00
R1673:Or5ae1 UTSW 7 84,565,325 (GRCm39) missense probably damaging 0.97
R1891:Or5ae1 UTSW 7 84,565,461 (GRCm39) missense possibly damaging 0.93
R1895:Or5ae1 UTSW 7 84,565,487 (GRCm39) missense probably benign 0.01
R1946:Or5ae1 UTSW 7 84,565,487 (GRCm39) missense probably benign 0.01
R2128:Or5ae1 UTSW 7 84,565,701 (GRCm39) missense probably damaging 1.00
R4435:Or5ae1 UTSW 7 84,565,229 (GRCm39) missense probably benign 0.45
R4822:Or5ae1 UTSW 7 84,565,634 (GRCm39) missense possibly damaging 0.81
R4834:Or5ae1 UTSW 7 84,565,491 (GRCm39) missense probably damaging 1.00
R5354:Or5ae1 UTSW 7 84,565,357 (GRCm39) nonsense probably null
R5644:Or5ae1 UTSW 7 84,565,327 (GRCm39) missense probably benign 0.15
R5650:Or5ae1 UTSW 7 84,565,626 (GRCm39) missense possibly damaging 0.50
R5708:Or5ae1 UTSW 7 84,565,391 (GRCm39) missense possibly damaging 0.56
R6585:Or5ae1 UTSW 7 84,565,670 (GRCm39) missense probably damaging 0.99
R7774:Or5ae1 UTSW 7 84,565,739 (GRCm39) missense probably damaging 0.97
R8126:Or5ae1 UTSW 7 84,565,114 (GRCm39) missense probably damaging 1.00
R8443:Or5ae1 UTSW 7 84,565,787 (GRCm39) missense probably benign 0.00
R8709:Or5ae1 UTSW 7 84,565,671 (GRCm39) missense probably damaging 1.00
R8729:Or5ae1 UTSW 7 84,565,523 (GRCm39) missense probably damaging 0.99
R8779:Or5ae1 UTSW 7 84,565,397 (GRCm39) missense possibly damaging 0.56
R8810:Or5ae1 UTSW 7 84,565,626 (GRCm39) missense possibly damaging 0.50
Posted On 2016-08-02