Incidental Mutation 'IGL02511:Or5al7'
ID 296559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5al7
Ensembl Gene ENSMUSG00000075201
Gene Name olfactory receptor family 5 subfamily AL member 7
Synonyms MOR185-7, GA_x6K02T2Q125-47631900-47630956, Olfr1043
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02511
Quality Score
Status
Chromosome 2
Chromosomal Location 85992347-85993291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85992363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 310 (I310T)
Ref Sequence ENSEMBL: ENSMUSP00000149716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099907] [ENSMUST00000099908] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215624] [ENSMUST00000216028]
AlphaFold Q8VFK4
Predicted Effect probably benign
Transcript: ENSMUST00000099907
AA Change: I310T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201
AA Change: I310T

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 6.9e-46 PFAM
Pfam:7tm_1 41 290 1.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099908
SMART Domains Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.2e-48 PFAM
Pfam:7tm_1 41 290 1.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213886
AA Change: I310T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000213949
AA Change: I310T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000215624
Predicted Effect probably benign
Transcript: ENSMUST00000216028
AA Change: I310T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0846 question?
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,692,111 (GRCm39) probably benign Het
Adam3 T A 8: 25,185,192 (GRCm39) D502V probably damaging Het
Adss2 T C 1: 177,598,700 (GRCm39) probably benign Het
Ankrd36 T A 11: 5,610,845 (GRCm39) probably null Het
Atf6b T C 17: 34,873,615 (GRCm39) S692P probably benign Het
Cap2 T C 13: 46,684,498 (GRCm39) M1T probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntn1 A T 15: 92,114,266 (GRCm39) probably benign Het
Copg2 A T 6: 30,835,757 (GRCm39) F218Y probably benign Het
Dll4 G A 2: 119,156,947 (GRCm39) G73E probably damaging Het
Dzip3 T C 16: 48,757,343 (GRCm39) M897V possibly damaging Het
Ehbp1 T C 11: 22,039,653 (GRCm39) R816G probably damaging Het
Enoph1 T C 5: 100,208,894 (GRCm39) L83P probably benign Het
Enpep A G 3: 129,115,059 (GRCm39) S238P probably damaging Het
Fermt1 A C 2: 132,775,086 (GRCm39) probably benign Het
Gm6619 T A 6: 131,467,330 (GRCm39) I65K possibly damaging Het
Krtap31-2 T A 11: 99,827,518 (GRCm39) C117S possibly damaging Het
Ksr1 T C 11: 78,936,046 (GRCm39) D106G possibly damaging Het
Lgr4 A T 2: 109,841,617 (GRCm39) Y534F probably benign Het
Mamdc2 T C 19: 23,356,095 (GRCm39) T118A probably benign Het
Myo10 T A 15: 25,723,975 (GRCm39) I170N probably damaging Het
Myom2 T C 8: 15,115,743 (GRCm39) S53P probably benign Het
Npl T A 1: 153,391,227 (GRCm39) D176V probably damaging Het
Nrm T C 17: 36,172,316 (GRCm39) S14P probably damaging Het
Or5p70 T A 7: 107,995,265 (GRCm39) F313I probably benign Het
Or5v1b A G 17: 37,840,870 (GRCm39) M1V probably null Het
Papola T A 12: 105,775,604 (GRCm39) C204S probably damaging Het
Pard3 A T 8: 127,888,070 (GRCm39) probably benign Het
Pdzd4 T A X: 72,838,206 (GRCm39) M701L probably damaging Het
Pkhd1 A T 1: 20,143,731 (GRCm39) V3865E possibly damaging Het
Plxna3 C A X: 73,378,991 (GRCm39) Q712K probably damaging Het
Pon1 A G 6: 5,193,724 (GRCm39) L9P probably damaging Het
Pygm A T 19: 6,435,718 (GRCm39) I83F probably benign Het
Scyl2 A G 10: 89,476,681 (GRCm39) S815P probably benign Het
Serpina1a C T 12: 103,822,226 (GRCm39) W212* probably null Het
Slc38a9 C A 13: 112,834,541 (GRCm39) D239E possibly damaging Het
Smad6 A G 9: 63,860,859 (GRCm39) F479L probably damaging Het
Smarcc2 T C 10: 128,297,251 (GRCm39) S48P probably damaging Het
Ttn T A 2: 76,768,034 (GRCm39) M3022L unknown Het
Tulp1 C A 17: 28,575,142 (GRCm39) R441L probably benign Het
Ugt1a10 T C 1: 87,983,585 (GRCm39) F128L probably damaging Het
Ulk4 A G 9: 121,017,420 (GRCm39) V686A probably damaging Het
Ush2a T C 1: 188,475,884 (GRCm39) probably null Het
Ushbp1 T C 8: 71,843,581 (GRCm39) M286V probably null Het
Usp51 T G X: 151,791,726 (GRCm39) I440R probably damaging Het
Wee1 G T 7: 109,738,483 (GRCm39) R532L possibly damaging Het
Zfhx4 A G 3: 5,464,243 (GRCm39) E1467G probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp551 A G 7: 12,150,602 (GRCm39) V269A possibly damaging Het
Other mutations in Or5al7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Or5al7 APN 2 85,993,264 (GRCm39) missense probably benign 0.01
IGL02037:Or5al7 APN 2 85,993,181 (GRCm39) missense probably benign
IGL02174:Or5al7 APN 2 85,992,442 (GRCm39) missense possibly damaging 0.78
IGL02578:Or5al7 APN 2 85,993,073 (GRCm39) nonsense probably null
IGL03084:Or5al7 APN 2 85,992,569 (GRCm39) nonsense probably null
R0278:Or5al7 UTSW 2 85,992,923 (GRCm39) nonsense probably null
R0633:Or5al7 UTSW 2 85,992,435 (GRCm39) missense probably damaging 1.00
R0972:Or5al7 UTSW 2 85,992,648 (GRCm39) missense possibly damaging 0.94
R1033:Or5al7 UTSW 2 85,993,194 (GRCm39) missense possibly damaging 0.67
R2116:Or5al7 UTSW 2 85,993,073 (GRCm39) nonsense probably null
R2998:Or5al7 UTSW 2 85,992,364 (GRCm39) missense probably benign
R3951:Or5al7 UTSW 2 85,992,962 (GRCm39) nonsense probably null
R5147:Or5al7 UTSW 2 85,992,378 (GRCm39) missense possibly damaging 0.79
R6193:Or5al7 UTSW 2 85,992,628 (GRCm39) missense possibly damaging 0.94
R7020:Or5al7 UTSW 2 85,992,363 (GRCm39) missense probably benign 0.00
R7954:Or5al7 UTSW 2 85,993,212 (GRCm39) missense probably damaging 0.99
R8203:Or5al7 UTSW 2 85,992,844 (GRCm39) missense probably benign
R8390:Or5al7 UTSW 2 85,993,266 (GRCm39) missense possibly damaging 0.82
Z1177:Or5al7 UTSW 2 85,992,508 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16