Incidental Mutation 'IGL02037:Or5al7'
ID 184567
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 # IGL02037
Quality Score
Status
Chromosome 2
Chromosomal Location 85992347-85993291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85993181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 37 (F37L)
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: F37L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201
AA Change: F37L

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: F37L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213949
AA Change: F37L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215624
Predicted Effect probably benign
Transcript: ENSMUST00000216028
AA Change: F37L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T A 6: 92,804,997 (GRCm39) probably benign Het
Ace2 T A X: 162,946,996 (GRCm39) V293D probably damaging Het
Adgrg6 T C 10: 14,317,185 (GRCm39) Y545C probably damaging Het
Arhgap40 A G 2: 158,376,742 (GRCm39) T293A probably damaging Het
Arhgef19 A G 4: 140,973,707 (GRCm39) T65A probably damaging Het
Brf1 A G 12: 112,956,682 (GRCm39) probably null Het
Cbfb T C 8: 105,905,252 (GRCm39) S65P possibly damaging Het
Chsy1 T C 7: 65,821,576 (GRCm39) S604P possibly damaging Het
Ckmt1 T C 2: 121,191,643 (GRCm39) V271A probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd2 T C 4: 128,371,263 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,038,559 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,007 (GRCm39) T492A probably benign Het
Fam3a G A X: 73,430,241 (GRCm39) T156I probably damaging Het
Fbn2 A T 18: 58,229,087 (GRCm39) C708S probably damaging Het
Fgf5 G A 5: 98,409,831 (GRCm39) G127R probably damaging Het
Fhip1a T G 3: 85,637,939 (GRCm39) K120T probably damaging Het
Fn3k A T 11: 121,325,909 (GRCm39) Y32F probably benign Het
Frem3 T C 8: 81,338,118 (GRCm39) I137T probably benign Het
Hc T C 2: 34,903,531 (GRCm39) D1041G probably benign Het
Heatr6 T A 11: 83,655,708 (GRCm39) probably benign Het
Hivep1 G A 13: 42,309,553 (GRCm39) A598T probably benign Het
Ifngr1 T C 10: 19,483,007 (GRCm39) S254P probably benign Het
Kel T C 6: 41,674,408 (GRCm39) S341G probably benign Het
Klra6 A C 6: 129,990,439 (GRCm39) M224R probably benign Het
Mis18bp1 A G 12: 65,183,522 (GRCm39) probably null Het
Mpeg1 C T 19: 12,440,660 (GRCm39) T706I probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Palld T C 8: 61,978,148 (GRCm39) R881G probably damaging Het
Pdha2 A T 3: 140,916,662 (GRCm39) V282E probably damaging Het
Pga5 C T 19: 10,654,065 (GRCm39) R46Q probably benign Het
Plekhg2 T C 7: 28,068,122 (GRCm39) Y189C probably damaging Het
Rnf43 A G 11: 87,622,479 (GRCm39) T527A probably benign Het
Rplp0 G A 5: 115,699,174 (GRCm39) R73Q probably benign Het
Smco3 A G 6: 136,808,197 (GRCm39) *226R probably null Het
Sugp2 T C 8: 70,712,324 (GRCm39) probably benign Het
Tsga10 T C 1: 37,846,098 (GRCm39) I343V probably benign Het
Ube2q2 A G 9: 55,075,502 (GRCm39) K104E probably damaging Het
Ube3a C T 7: 58,925,506 (GRCm39) probably benign Het
Usp11 T C X: 20,585,381 (GRCm39) I785T probably damaging Het
Vmn2r22 A T 6: 123,626,026 (GRCm39) C137S probably damaging Het
Zfp281 T C 1: 136,555,185 (GRCm39) V721A possibly damaging Het
Zfp946 T C 17: 22,672,469 (GRCm39) S23P probably damaging Het
Zfyve1 A G 12: 83,594,694 (GRCm39) V766A probably damaging Het
Other mutations in Or5al7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Or5al7 APN 2 85,993,264 (GRCm39) missense probably benign 0.01
IGL02174:Or5al7 APN 2 85,992,442 (GRCm39) missense possibly damaging 0.78
IGL02511:Or5al7 APN 2 85,992,363 (GRCm39) missense probably benign 0.00
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 2014-05-07