Incidental Mutation 'R8126:Or5ae1'
ID 631762
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 067555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R8126 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 84564989-84565936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84565114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 42 (N42K)
Ref Sequence ENSEMBL: ENSMUSP00000149411 (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: N42K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: N42K

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 probably damaging
Transcript: ENSMUST00000214501
AA Change: N42K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216184
AA Change: N42K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216367
AA Change: N42K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 97.3%
Validation Efficiency 95% (42/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Aplp1 T A 7: 30,141,164 (GRCm39) D299V probably damaging Het
Atad2 T C 15: 57,968,987 (GRCm39) I841M probably benign Het
Bdp1 T C 13: 100,192,790 (GRCm39) E1348G probably damaging Het
Cacna1a A G 8: 85,359,881 (GRCm39) T1948A probably benign Het
Cdh12 T C 15: 21,558,393 (GRCm39) Y431H probably benign Het
Cfap74 C A 4: 155,511,831 (GRCm39) D446E Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Col4a4 T C 1: 82,431,007 (GRCm39) T1632A unknown Het
Csnk2a2 G A 8: 96,182,575 (GRCm39) P296L Het
Cspg4b T A 13: 113,504,697 (GRCm39) I1942N Het
Cstl1 A G 2: 148,596,591 (GRCm39) E98G probably benign Het
Ddx49 A T 8: 70,748,246 (GRCm39) I303N probably damaging Het
Ddx60 C T 8: 62,436,945 (GRCm39) A965V probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Gm14295 A G 2: 176,502,658 (GRCm39) D716G probably benign Het
Gsap T A 5: 21,475,010 (GRCm39) H556Q probably benign Het
Hsp90b1 T C 10: 86,530,246 (GRCm39) I538V probably damaging Het
Ighv1-49 C T 12: 115,019,230 (GRCm39) probably benign Het
Lrrk1 T C 7: 65,942,063 (GRCm39) N725S probably damaging Het
Mfsd4b2 A G 10: 39,797,984 (GRCm39) S124P probably benign Het
Ncoa1 A T 12: 4,340,951 (GRCm39) L827Q probably damaging Het
Ncor2 T C 5: 125,183,268 (GRCm39) N59D unknown Het
Nfkbid T A 7: 30,123,799 (GRCm39) S120T probably benign Het
Nktr T C 9: 121,575,514 (GRCm39) Y341H probably damaging Het
Npat T C 9: 53,463,634 (GRCm39) V139A probably benign Het
Plxnb2 T C 15: 89,047,506 (GRCm39) D721G probably benign Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Ppp3ca T A 3: 136,608,952 (GRCm39) D348E probably damaging Het
Pramel21 T A 4: 143,343,635 (GRCm39) C312S possibly damaging Het
Rnf146 T C 10: 29,223,372 (GRCm39) I171M probably damaging Het
Snrpa G T 7: 26,892,373 (GRCm39) F62L possibly damaging Het
Spata3 C T 1: 85,952,075 (GRCm39) R110C unknown Het
Tbc1d2b T C 9: 90,104,369 (GRCm39) H591R probably benign Het
Tnfsf8 T G 4: 63,752,423 (GRCm39) D214A possibly damaging Het
Trdmt1 C T 2: 13,524,816 (GRCm39) R213H probably benign Het
Uspl1 C T 5: 149,151,430 (GRCm39) L877F probably damaging Het
Vmn1r22 C A 6: 57,877,669 (GRCm39) V103F possibly damaging Het
Vmn2r102 T C 17: 19,880,712 (GRCm39) S18P probably benign Het
Vmn2r-ps117 A T 17: 19,042,814 (GRCm39) Y74F probably benign Het
Wdr90 A G 17: 26,067,951 (GRCm39) F1429S possibly damaging Het
Zdhhc20 C A 14: 58,084,402 (GRCm39) V238F 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
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
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'- TTTCTCACAAGCAGGATCCC -3'
(R):5'- GCCACCAGGAAATAGAGCTG -3'

Sequencing Primer
(F):5'- AGGATCCCTGCTTTATCAGTCTAATC -3'
(R):5'- CCACCAGGAAATAGAGCTGTAAAGC -3'
Posted On 2020-06-30