Incidental Mutation 'R7049:Or1e21'
ID 547491
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 045147-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7049 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 73344101-73345036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73344430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 203 (G203R)
Ref Sequence ENSEMBL: ENSMUSP00000116228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075532] [ENSMUST00000121209] [ENSMUST00000127789]
AlphaFold Q8VGT3
Predicted Effect probably damaging
Transcript: ENSMUST00000075532
AA Change: G203R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074971
Gene: ENSMUSG00000072709
AA Change: G203R

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 probably damaging
Transcript: ENSMUST00000121209
AA Change: G203R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112462
Gene: ENSMUSG00000072709
AA Change: G203R

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 probably damaging
Transcript: ENSMUST00000127789
AA Change: G203R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116228
Gene: ENSMUSG00000072709
AA Change: G203R

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 0.6623 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (46/46)
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
Abca4 T C 3: 121,941,497 (GRCm39) V447A probably benign Het
Adam6b A G 12: 113,454,122 (GRCm39) D313G probably damaging Het
Adcy10 G T 1: 165,367,443 (GRCm39) C571F probably damaging Het
Anxa1 A G 19: 20,352,635 (GRCm39) V313A probably benign Het
Bpifb6 A T 2: 153,750,733 (GRCm39) probably null Het
Cacna1c C A 6: 118,578,124 (GRCm39) C1713F probably benign Het
Cep135 A G 5: 76,754,585 (GRCm39) N354S probably benign Het
Cers2 A G 3: 95,228,965 (GRCm39) D200G probably damaging Het
Cpne1 A G 2: 155,920,727 (GRCm39) L133P probably damaging Het
Ddhd1 A G 14: 45,840,138 (GRCm39) Y16H probably damaging Het
Depp1 T C 6: 116,629,254 (GRCm39) L199P probably damaging Het
Fastkd2 T C 1: 63,771,009 (GRCm39) F122L probably benign Het
Fastkd5 A T 2: 130,457,431 (GRCm39) D386E probably damaging Het
Gm5134 T A 10: 75,828,292 (GRCm39) C291S probably damaging Het
Gria2 T C 3: 80,596,634 (GRCm39) S811G probably damaging Het
Hcn1 C T 13: 118,111,998 (GRCm39) P654L unknown Het
Hrnr C A 3: 93,230,461 (GRCm39) S233* probably null Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Itgal A T 7: 126,895,573 (GRCm39) probably benign Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Mical1 A G 10: 41,358,246 (GRCm39) R420G possibly damaging Het
Mllt6 T A 11: 97,564,637 (GRCm39) L481Q probably damaging Het
Mtdh T A 15: 34,131,311 (GRCm39) N174K probably damaging Het
Nhsl1 A G 10: 18,407,386 (GRCm39) M1507V probably damaging Het
Npm3 A T 19: 45,737,994 (GRCm39) M1K probably null Het
Pold1 A T 7: 44,190,795 (GRCm39) W290R possibly damaging Het
Prss52 C T 14: 64,350,021 (GRCm39) T216I probably damaging Het
Psme4 T C 11: 30,763,904 (GRCm39) probably null Het
Pwwp2a T A 11: 43,597,018 (GRCm39) F453I probably damaging Het
Rttn A G 18: 89,082,340 (GRCm39) N1422S probably damaging Het
Scaf4 A C 16: 90,057,075 (GRCm39) I92R unknown Het
Slc12a1 A G 2: 125,013,177 (GRCm39) K345E probably benign Het
Slc22a28 A T 19: 8,049,270 (GRCm39) N326K probably benign Het
Smgc A G 15: 91,744,576 (GRCm39) E311G possibly damaging Het
Snx7 C T 3: 117,633,680 (GRCm39) R90H possibly damaging Het
Tex101 A G 7: 24,367,683 (GRCm39) I223T probably benign Het
Tnik A T 3: 28,715,853 (GRCm39) K1093* probably null Het
Tnxb T G 17: 34,936,242 (GRCm39) probably null Het
Trio T C 15: 27,749,885 (GRCm39) N2272S possibly damaging Het
Tubal3 T C 13: 3,982,756 (GRCm39) Y179H probably damaging Het
Vmn2r4 C T 3: 64,296,550 (GRCm39) G745D probably benign Het
Vps9d1 A T 8: 123,973,882 (GRCm39) Y300* probably null Het
Zfp646 T A 7: 127,479,199 (GRCm39) C459S possibly damaging 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
R0356:Or1e21 UTSW 11 73,344,906 (GRCm39) missense possibly damaging 0.93
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
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'- GCAATAGAAGCCTCCTTTGC -3'
(R):5'- CATGAGTCTCAAGCTCTGTGTG -3'

Sequencing Primer
(F):5'- GAAGCCTCCTTTGCTGTAAAG -3'
(R):5'- CTCAAGCTCTGTGTGTGTCTG -3'
Posted On 2019-05-13