Incidental Mutation 'R4834:Or5ae1'
ID 373066
Institutional Source Beutler Lab
Gene Symbol Or5ae1
Ensembl Gene ENSMUSG00000116179
Gene Name olfactory receptor family 5 subfamily AE member 1
Synonyms Olfr290, GA_x6K02T2NHDJ-11170115-11169168, MOR254-1
MMRRC Submission 041977-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R4834 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 84564989-84565936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 84565491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 168 (F168C)
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 damaging
Transcript: ENSMUST00000073468
AA Change: F168C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: F168C

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 damaging
Transcript: ENSMUST00000214501
AA Change: F168C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216184
AA Change: F168C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216367
AA Change: F168C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A C 9: 53,343,787 (GRCm39) D146A possibly damaging Het
Acsl5 C A 19: 55,268,991 (GRCm39) D217E probably benign Het
Acss3 A G 10: 106,920,666 (GRCm39) probably null Het
Adam24 G A 8: 41,132,738 (GRCm39) G69R probably damaging Het
Adgrg7 A T 16: 56,553,232 (GRCm39) W622R probably damaging Het
Ajm1 T C 2: 25,469,530 (GRCm39) E127G possibly damaging Het
Ankrd26 T C 6: 118,500,679 (GRCm39) M931V probably benign Het
Ano8 C T 8: 71,936,939 (GRCm39) V187M probably damaging Het
Ap3d1 A T 10: 80,555,560 (GRCm39) C348S probably damaging Het
Apob T C 12: 8,064,101 (GRCm39) V376A possibly damaging Het
Arhgap21 A T 2: 20,870,130 (GRCm39) D925E probably damaging Het
Bmp6 T A 13: 38,669,817 (GRCm39) V367E probably damaging Het
Bmp8b A T 4: 123,016,843 (GRCm39) Q348L probably damaging Het
Ccr1l1 T C 9: 123,777,742 (GRCm39) K235R probably damaging Het
Cd59a G A 2: 103,944,431 (GRCm39) C93Y probably damaging Het
Clstn3 C T 6: 124,408,912 (GRCm39) probably null Het
Col4a2 C A 8: 11,456,836 (GRCm39) Y236* probably null Het
Csn1s2a T C 5: 87,929,637 (GRCm39) F79L probably benign Het
Cyp4a10 A C 4: 115,383,005 (GRCm39) Y360S probably damaging Het
Cyp4a29 A T 4: 115,106,867 (GRCm39) I175F probably benign Het
Dck T A 5: 88,920,595 (GRCm39) I105N probably damaging Het
Dicer1 A G 12: 104,662,850 (GRCm39) L1577P probably benign Het
Disp2 G A 2: 118,622,985 (GRCm39) S1239N probably benign Het
Dop1b T C 16: 93,536,892 (GRCm39) M1T probably null Het
E130308A19Rik T A 4: 59,690,317 (GRCm39) C50* probably null Het
Elf2 A T 3: 51,184,642 (GRCm39) D14E probably damaging Het
Epm2aip1 C T 9: 111,102,262 (GRCm39) R412C probably benign Het
Foxm1 T C 6: 128,346,410 (GRCm39) F114L probably damaging Het
Glcci1 C T 6: 8,582,601 (GRCm39) R134* probably null Het
Gm57859 C A 11: 113,579,805 (GRCm39) T400K probably benign Het
Gspt1 T C 16: 11,040,581 (GRCm39) K576E probably damaging Het
H2-M10.3 T C 17: 36,678,286 (GRCm39) K180E probably benign Het
Hecw2 A T 1: 53,869,911 (GRCm39) V1439E probably damaging Het
Hr T C 14: 70,797,362 (GRCm39) S561P probably damaging Het
Hunk T C 16: 90,293,086 (GRCm39) V456A probably benign Het
Il1rap T A 16: 26,495,685 (GRCm39) D97E probably damaging Het
Inpp5d T G 1: 87,625,245 (GRCm39) V474G possibly damaging Het
Itsn1 T A 16: 91,703,677 (GRCm39) L87* probably null Het
Izumo3 T C 4: 92,035,208 (GRCm39) D3G possibly damaging Het
Kifc2 T A 15: 76,545,511 (GRCm39) M1K probably null Het
Krt8 T A 15: 101,907,256 (GRCm39) I276F probably damaging Het
Ksr2 C A 5: 117,806,392 (GRCm39) Q402K probably benign Het
Lama2 A G 10: 26,882,745 (GRCm39) V2606A probably benign Het
Met A G 6: 17,491,412 (GRCm39) H58R probably damaging Het
Mier3 C T 13: 111,851,643 (GRCm39) Q542* probably null Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Msl3l2 C T 10: 55,991,655 (GRCm39) R127C probably damaging Het
Naglu T C 11: 100,967,814 (GRCm39) L588P probably benign Het
Nf1 T C 11: 79,437,123 (GRCm39) L2013P probably damaging Het
Nid1 A G 13: 13,683,408 (GRCm39) Y1162C probably damaging Het
Nlrc5 G T 8: 95,232,113 (GRCm39) R1313L probably benign Het
Nrg1 A G 8: 32,407,747 (GRCm39) V162A probably benign Het
Nup188 T C 2: 30,229,596 (GRCm39) L1310P probably damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or14a259 G A 7: 86,012,952 (GRCm39) L198F probably benign Het
Or4f6 A G 2: 111,839,276 (GRCm39) L85P probably damaging Het
Pbk T A 14: 66,052,733 (GRCm39) L192* probably null Het
Pcdhga4 T C 18: 37,818,490 (GRCm39) I13T probably benign Het
Peg10 A T 6: 4,754,294 (GRCm39) probably benign Het
Polq T A 16: 36,848,176 (GRCm39) V261D probably damaging Het
Ppp2r5b T A 19: 6,280,540 (GRCm39) T313S possibly damaging Het
Ptk2 A T 15: 73,087,945 (GRCm39) probably null Het
Ptpn7 T A 1: 135,065,618 (GRCm39) probably null Het
Rab11fip1 A G 8: 27,643,111 (GRCm39) S563P probably damaging Het
Scn1a A T 2: 66,158,866 (GRCm39) C351* probably null Het
Slc10a5 A T 3: 10,399,859 (GRCm39) V267D probably damaging Het
Slc37a2 T A 9: 37,146,404 (GRCm39) M368L probably damaging Het
Slc49a4 T A 16: 35,555,945 (GRCm39) T172S probably benign Het
Slc6a20b T A 9: 123,425,113 (GRCm39) T585S probably benign Het
Srcap T C 7: 127,156,782 (GRCm39) probably null Het
Tbx18 T C 9: 87,609,502 (GRCm39) M178V possibly damaging Het
Tmprss11b C A 5: 86,811,418 (GRCm39) C172F probably damaging Het
Traf5 T C 1: 191,751,198 (GRCm39) Q91R probably benign Het
Trappc8 A T 18: 20,958,122 (GRCm39) Y1248N probably damaging Het
Trpa1 A G 1: 14,966,747 (GRCm39) L539S possibly damaging Het
Tyrp1 T A 4: 80,764,833 (GRCm39) Y3* probably null Het
Ubr7 A T 12: 102,727,761 (GRCm39) K94N probably damaging Het
Ugt2a1 C A 5: 87,633,894 (GRCm39) probably null Het
Unc50 T A 1: 37,471,710 (GRCm39) I120K probably damaging Het
Usp28 T C 9: 48,912,836 (GRCm39) V29A probably damaging Het
Usp9y A G Y: 1,317,002 (GRCm39) I1849T probably benign Het
Vmn2r102 T A 17: 19,898,203 (GRCm39) V406E probably damaging Het
Vmn2r4 G A 3: 64,317,484 (GRCm39) R85W probably benign Het
Xirp2 A G 2: 67,346,750 (GRCm39) D2997G probably benign Het
Zc2hc1c A T 12: 85,336,982 (GRCm39) E213V probably damaging Het
Zfp420 C T 7: 29,573,759 (GRCm39) probably benign Het
Zfp641 C T 15: 98,191,585 (GRCm39) E34K probably damaging 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
IGL03246:Or5ae1 APN 7 84,565,919 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- GACTGAAGTCTTCTTGCTGGC -3'
(R):5'- AGCACATGTGGAGAAAGCTTTG -3'

Sequencing Primer
(F):5'- CTGGCTGTGATGGCTTATGACC -3'
(R):5'- CAGCTGACCGGATCTTTAGG -3'
Posted On 2016-03-01