Incidental Mutation 'IGL01771:Or1e29'
ID 153852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1e29
Ensembl Gene ENSMUSG00000070383
Gene Name olfactory receptor family 1 subfamily E member 29
Synonyms MOR135-6, GA_x6K02T2P1NL-3932085-3931147, Olfr389
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL01771
Quality Score
Status
Chromosome 11
Chromosomal Location 73667213-73671415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73667490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 221 (I221N)
Ref Sequence ENSEMBL: ENSMUSP00000149734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122224] [ENSMUST00000124927] [ENSMUST00000215418]
AlphaFold Q7TRX7
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118611
Predicted Effect probably damaging
Transcript: ENSMUST00000122224
AA Change: I221N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113364
Gene: ENSMUSG00000070383
AA Change: I221N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.8e-56 PFAM
Pfam:7TM_GPCR_Srsx 35 305 4.2e-6 PFAM
Pfam:7tm_1 41 290 2e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124927
AA Change: I221N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115639
Gene: ENSMUSG00000070383
AA Change: I221N

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 221 6.6e-7 PFAM
Pfam:7tm_1 41 224 3.5e-29 PFAM
Pfam:7tm_4 139 224 1.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215418
AA Change: I221N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn10 T A 1: 92,868,087 (GRCm39) W185R probably damaging Het
Frmd8 A G 19: 5,919,603 (GRCm39) L148P probably damaging Het
Gk5 T C 9: 96,059,488 (GRCm39) C447R probably damaging Het
Hip1r T A 5: 124,137,606 (GRCm39) V704D possibly damaging Het
Kcnj10 C A 1: 172,197,150 (GRCm39) H221Q probably benign Het
Klk1b8 A T 7: 43,604,290 (GRCm39) I253L probably damaging Het
Or10aa4-ps1 T C 1: 173,878,887 (GRCm39) probably benign Het
Or1ad8 A G 11: 50,898,593 (GRCm39) T265A probably benign Het
Or5ac22 T C 16: 59,134,891 (GRCm39) N293S probably damaging Het
Or8k40 C T 2: 86,584,626 (GRCm39) C152Y probably benign Het
Pdp2 A T 8: 105,320,754 (GRCm39) Y201F probably benign Het
Ppfia1 A T 7: 144,036,094 (GRCm39) I1112K probably benign Het
Ppwd1 A G 13: 104,353,624 (GRCm39) I378T probably damaging Het
Rhbdd1 T A 1: 82,355,313 (GRCm39) D248E probably benign Het
Sec14l5 T C 16: 4,996,494 (GRCm39) probably null Het
Sel1l3 T G 5: 53,279,183 (GRCm39) D960A probably damaging Het
Slc35f3 T C 8: 127,115,951 (GRCm39) Y293H probably benign Het
Wwc1 A G 11: 35,744,185 (GRCm39) probably null Het
Zan T C 5: 137,391,330 (GRCm39) N4718S unknown Het
Zfyve16 T C 13: 92,658,680 (GRCm39) I410M probably benign Het
Other mutations in Or1e29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Or1e29 APN 11 73,667,532 (GRCm39) missense probably benign 0.44
IGL01766:Or1e29 APN 11 73,667,901 (GRCm39) missense probably benign 0.41
IGL02535:Or1e29 APN 11 73,667,442 (GRCm39) missense probably benign 0.00
IGL02639:Or1e29 APN 11 73,667,371 (GRCm39) missense probably benign 0.21
IGL03060:Or1e29 APN 11 73,667,289 (GRCm39) missense probably damaging 1.00
IGL03075:Or1e29 APN 11 73,667,298 (GRCm39) missense probably damaging 1.00
R0081:Or1e29 UTSW 11 73,667,935 (GRCm39) missense possibly damaging 0.59
R0426:Or1e29 UTSW 11 73,667,263 (GRCm39) missense probably benign 0.13
R1140:Or1e29 UTSW 11 73,667,680 (GRCm39) missense probably benign
R1638:Or1e29 UTSW 11 73,667,974 (GRCm39) missense possibly damaging 0.95
R2001:Or1e29 UTSW 11 73,667,539 (GRCm39) missense probably benign
R2214:Or1e29 UTSW 11 73,667,655 (GRCm39) nonsense probably null
R3076:Or1e29 UTSW 11 73,667,466 (GRCm39) missense possibly damaging 0.93
R3077:Or1e29 UTSW 11 73,667,466 (GRCm39) missense possibly damaging 0.93
R3078:Or1e29 UTSW 11 73,667,466 (GRCm39) missense possibly damaging 0.93
R3081:Or1e29 UTSW 11 73,668,051 (GRCm39) missense probably damaging 1.00
R3430:Or1e29 UTSW 11 73,667,365 (GRCm39) missense probably damaging 1.00
R3731:Or1e29 UTSW 11 73,667,565 (GRCm39) missense probably benign 0.08
R4090:Or1e29 UTSW 11 73,667,667 (GRCm39) missense probably damaging 1.00
R4303:Or1e29 UTSW 11 73,667,664 (GRCm39) missense possibly damaging 0.78
R4516:Or1e29 UTSW 11 73,667,866 (GRCm39) missense probably benign 0.06
R4556:Or1e29 UTSW 11 73,667,307 (GRCm39) missense possibly damaging 0.65
R4557:Or1e29 UTSW 11 73,667,307 (GRCm39) missense possibly damaging 0.65
R4775:Or1e29 UTSW 11 73,667,377 (GRCm39) missense probably damaging 1.00
R4858:Or1e29 UTSW 11 73,667,372 (GRCm39) missense probably benign 0.44
R5015:Or1e29 UTSW 11 73,668,007 (GRCm39) missense probably benign 0.07
R5087:Or1e29 UTSW 11 73,668,084 (GRCm39) missense possibly damaging 0.75
R6599:Or1e29 UTSW 11 73,667,506 (GRCm39) missense probably benign
R6701:Or1e29 UTSW 11 73,667,296 (GRCm39) missense probably damaging 1.00
R6784:Or1e29 UTSW 11 73,667,676 (GRCm39) missense probably damaging 1.00
R6916:Or1e29 UTSW 11 73,667,895 (GRCm39) missense probably benign 0.00
R7066:Or1e29 UTSW 11 73,668,018 (GRCm39) missense probably damaging 0.99
R7226:Or1e29 UTSW 11 73,667,503 (GRCm39) missense possibly damaging 0.95
R7457:Or1e29 UTSW 11 73,667,652 (GRCm39) missense probably benign 0.06
R7486:Or1e29 UTSW 11 73,667,847 (GRCm39) missense probably damaging 1.00
R7990:Or1e29 UTSW 11 73,667,497 (GRCm39) missense probably benign 0.00
R8289:Or1e29 UTSW 11 73,667,839 (GRCm39) missense probably benign
R9131:Or1e29 UTSW 11 73,668,150 (GRCm39) start codon destroyed probably null 1.00
R9160:Or1e29 UTSW 11 73,667,881 (GRCm39) missense probably benign 0.01
R9239:Or1e29 UTSW 11 73,667,346 (GRCm39) missense probably benign 0.00
R9666:Or1e29 UTSW 11 73,667,976 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04