Incidental Mutation 'R0356:Or1e21'
ID 29836
Institutional Source Beutler Lab
Gene Symbol Or1e21
Ensembl Gene ENSMUSG00000072709
Gene Name olfactory receptor family 1 subfamily E member 21
Synonyms MOR135-1, GA_x6K02T2P1NL-3613021-3612086, Olfr380
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0356 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 73344101-73345036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73344906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 44 (I44N)
Ref Sequence ENSEMBL: ENSMUSP00000116228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075532] [ENSMUST00000121209] [ENSMUST00000127789]
AlphaFold Q8VGT3
Predicted Effect possibly damaging
Transcript: ENSMUST00000075532
AA Change: I44N

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074971
Gene: ENSMUSG00000072709
AA Change: I44N

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:7tm_1 41 290 2e-35 PFAM
Pfam:7tm_4 139 283 7.9e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121209
AA Change: I44N

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112462
Gene: ENSMUSG00000072709
AA Change: I44N

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:7tm_4 31 308 6.7e-56 PFAM
Pfam:7tm_1 41 290 6.2e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000127789
AA Change: I44N

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116228
Gene: ENSMUSG00000072709
AA Change: I44N

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 231 7.3e-8 PFAM
Pfam:7tm_1 44 240 2.5e-33 PFAM
Pfam:7tm_4 142 249 4.5e-35 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A probably benign Het
Other mutations in Or1e21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Or1e21 APN 11 73,344,303 (GRCm39) missense probably damaging 1.00
IGL02388:Or1e21 APN 11 73,344,106 (GRCm39) missense probably benign 0.19
IGL02898:Or1e21 APN 11 73,344,561 (GRCm39) missense probably damaging 1.00
R1447:Or1e21 UTSW 11 73,344,700 (GRCm39) missense probably benign 0.39
R1912:Or1e21 UTSW 11 73,344,820 (GRCm39) missense probably damaging 0.98
R4299:Or1e21 UTSW 11 73,344,827 (GRCm39) missense probably damaging 0.97
R4362:Or1e21 UTSW 11 73,344,391 (GRCm39) missense probably benign
R5686:Or1e21 UTSW 11 73,344,677 (GRCm39) nonsense probably null
R7049:Or1e21 UTSW 11 73,344,430 (GRCm39) missense probably damaging 1.00
R7751:Or1e21 UTSW 11 73,344,372 (GRCm39) missense possibly damaging 0.89
R8558:Or1e21 UTSW 11 73,344,309 (GRCm39) missense probably damaging 1.00
R8736:Or1e21 UTSW 11 73,344,384 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCAGCCTGCATAGGTGATGGAT -3'
(R):5'- TGGACCTGAACTTGAAGCAAGAGAGA -3'

Sequencing Primer
(F):5'- GATGTGTCCTGGCTCTGC -3'
(R):5'- GGTCAGCTCTATTGTTGTAGAATATG -3'
Posted On 2013-04-24