Incidental Mutation 'IGL01069:Or1ad1'
ID 52215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1ad1
Ensembl Gene ENSMUSG00000061952
Gene Name olfactory receptor family 1 subfamily AD member 1
Synonyms Olfr1377, MOR129-1, GA_x6K02T2QP88-4453480-4452557
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL01069
Quality Score
Status
Chromosome 11
Chromosomal Location 50875530-50876453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50875830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 101 (I101F)
Ref Sequence ENSEMBL: ENSMUSP00000151087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075177] [ENSMUST00000213291] [ENSMUST00000216101]
AlphaFold Q8VGH1
Predicted Effect possibly damaging
Transcript: ENSMUST00000075177
AA Change: I101F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074672
Gene: ENSMUSG00000061952
AA Change: I101F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2e-51 PFAM
Pfam:7tm_1 41 289 1.4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204581
AA Change: I101F
SMART Domains Protein: ENSMUSP00000144855
Gene: ENSMUSG00000061952
AA Change: I101F

DomainStartEndE-ValueType
Pfam:7tm_4 31 237 5.9e-36 PFAM
Pfam:7TM_GPCR_Srsx 35 227 1.9e-4 PFAM
Pfam:7tm_1 41 235 1.3e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213291
AA Change: I101F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216101
AA Change: I101F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Or1ad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1386:Or1ad1 UTSW 11 50,876,194 (GRCm39) missense probably damaging 0.97
R1486:Or1ad1 UTSW 11 50,875,608 (GRCm39) missense probably benign 0.00
R1613:Or1ad1 UTSW 11 50,876,045 (GRCm39) missense probably damaging 1.00
R2224:Or1ad1 UTSW 11 50,876,059 (GRCm39) missense probably damaging 1.00
R2411:Or1ad1 UTSW 11 50,875,758 (GRCm39) missense probably damaging 0.98
R3014:Or1ad1 UTSW 11 50,875,534 (GRCm39) missense probably benign 0.00
R4080:Or1ad1 UTSW 11 50,875,683 (GRCm39) missense probably damaging 1.00
R4753:Or1ad1 UTSW 11 50,875,978 (GRCm39) missense probably benign 0.05
R4764:Or1ad1 UTSW 11 50,875,602 (GRCm39) missense probably benign 0.00
R4822:Or1ad1 UTSW 11 50,875,910 (GRCm39) nonsense probably null
R4865:Or1ad1 UTSW 11 50,876,370 (GRCm39) missense probably damaging 0.99
R5053:Or1ad1 UTSW 11 50,876,137 (GRCm39) missense probably damaging 1.00
R6054:Or1ad1 UTSW 11 50,875,631 (GRCm39) missense probably benign 0.00
R6368:Or1ad1 UTSW 11 50,875,613 (GRCm39) missense probably benign 0.00
R7589:Or1ad1 UTSW 11 50,875,857 (GRCm39) missense probably damaging 0.98
R7843:Or1ad1 UTSW 11 50,875,845 (GRCm39) missense probably benign 0.06
R8056:Or1ad1 UTSW 11 50,876,368 (GRCm39) missense probably damaging 0.98
R9189:Or1ad1 UTSW 11 50,876,166 (GRCm39) missense probably damaging 1.00
R9486:Or1ad1 UTSW 11 50,875,691 (GRCm39) missense possibly damaging 0.94
Posted On 2013-06-21