Incidental Mutation 'IGL01589:Or1a1'
ID 91540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1a1
Ensembl Gene ENSMUSG00000070378
Gene Name olfactory receptor family 1 subfamily A member 1
Synonyms GA_x6K02T2P1NL-4348188-4349129, MOR125-5_p, Olfr403, IA7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL01589
Quality Score
Status
Chromosome 11
Chromosomal Location 74086331-74087272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74086587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 86 (L86P)
Ref Sequence ENSEMBL: ENSMUSP00000145741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076675] [ENSMUST00000206114]
AlphaFold Q7TRX2
Predicted Effect probably damaging
Transcript: ENSMUST00000076675
AA Change: L86P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075971
Gene: ENSMUSG00000070378
AA Change: L86P

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 7.3e-59 PFAM
Pfam:7tm_1 41 238 7.2e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206114
AA Change: L86P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206247
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,046,003 (GRCm39) F307S probably damaging Het
Abcc6 A T 7: 45,652,096 (GRCm39) probably benign Het
Adamts12 T A 15: 11,311,323 (GRCm39) D1193E probably benign Het
Akap6 T A 12: 53,186,447 (GRCm39) L1287H probably damaging Het
Ascl3 A G 7: 109,327,245 (GRCm39) S25P probably benign Het
Brd2 A G 17: 34,336,016 (GRCm39) S66P probably damaging Het
Cacna1i C A 15: 80,271,960 (GRCm39) probably benign Het
Cdc5l T C 17: 45,715,602 (GRCm39) Y670C probably damaging Het
Clybl T A 14: 122,608,834 (GRCm39) I142N probably damaging Het
Cyp2c66 T C 19: 39,172,379 (GRCm39) probably null Het
Dck C T 5: 88,922,095 (GRCm39) probably benign Het
Dsg1b T C 18: 20,542,651 (GRCm39) Y1053H probably damaging Het
Gm9912 T C 3: 148,890,986 (GRCm39) D49G unknown Het
Gpr107 T C 2: 31,057,163 (GRCm39) probably benign Het
Hsd3b7 T C 7: 127,402,036 (GRCm39) F227S probably damaging Het
Lrrtm2 T A 18: 35,345,851 (GRCm39) N484Y probably damaging Het
Muc19 A T 15: 91,754,699 (GRCm39) noncoding transcript Het
Nodal G A 10: 61,254,176 (GRCm39) R33Q probably benign Het
Plcb4 A G 2: 135,809,038 (GRCm39) I569V probably benign Het
Plekhg1 T C 10: 3,913,631 (GRCm39) Y1118H probably benign Het
Polr2a T G 11: 69,632,020 (GRCm39) E1015D probably benign Het
Recql5 A G 11: 115,785,495 (GRCm39) F667S probably damaging Het
Scube1 T C 15: 83,496,754 (GRCm39) Y749C probably damaging Het
Serpinb1c C A 13: 33,070,155 (GRCm39) V136F probably damaging Het
Slain2 T C 5: 73,098,789 (GRCm39) probably benign Het
Slc10a7 T C 8: 79,456,369 (GRCm39) S296P probably damaging Het
Sspo C T 6: 48,428,112 (GRCm39) R320W probably damaging Het
Usp16 G A 16: 87,276,071 (GRCm39) A469T probably benign Het
Vmn2r102 A T 17: 19,899,066 (GRCm39) L469F probably benign Het
Zfp772 A G 7: 7,208,523 (GRCm39) F107S possibly damaging Het
Other mutations in Or1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01716:Or1a1 APN 11 74,087,207 (GRCm39) missense probably benign 0.01
R0598:Or1a1 UTSW 11 74,086,658 (GRCm39) missense possibly damaging 0.90
R1168:Or1a1 UTSW 11 74,087,247 (GRCm39) missense probably benign
R1440:Or1a1 UTSW 11 74,086,505 (GRCm39) missense probably damaging 1.00
R1657:Or1a1 UTSW 11 74,086,722 (GRCm39) missense probably damaging 0.98
R1834:Or1a1 UTSW 11 74,086,479 (GRCm39) missense probably benign 0.00
R1990:Or1a1 UTSW 11 74,086,989 (GRCm39) missense probably damaging 0.99
R1991:Or1a1 UTSW 11 74,086,989 (GRCm39) missense probably damaging 0.99
R2206:Or1a1 UTSW 11 74,087,150 (GRCm39) missense possibly damaging 0.87
R2207:Or1a1 UTSW 11 74,087,150 (GRCm39) missense possibly damaging 0.87
R3103:Or1a1 UTSW 11 74,086,901 (GRCm39) missense probably benign 0.39
R4662:Or1a1 UTSW 11 74,086,542 (GRCm39) missense probably damaging 1.00
R4844:Or1a1 UTSW 11 74,086,902 (GRCm39) missense probably damaging 0.98
R5336:Or1a1 UTSW 11 74,086,859 (GRCm39) missense probably damaging 1.00
R5918:Or1a1 UTSW 11 74,086,944 (GRCm39) missense probably damaging 0.96
R6858:Or1a1 UTSW 11 74,086,925 (GRCm39) missense probably benign 0.01
R7175:Or1a1 UTSW 11 74,087,004 (GRCm39) nonsense probably null
R7362:Or1a1 UTSW 11 74,086,412 (GRCm39) missense probably benign 0.01
R7670:Or1a1 UTSW 11 74,087,033 (GRCm39) missense probably damaging 1.00
R8677:Or1a1 UTSW 11 74,086,415 (GRCm39) missense probably benign 0.00
R8957:Or1a1 UTSW 11 74,086,772 (GRCm39) missense probably damaging 1.00
R9029:Or1a1 UTSW 11 74,086,563 (GRCm39) missense possibly damaging 0.82
Posted On 2013-12-09