Incidental Mutation 'IGL02174:Or5al7'
ID 283032
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 # IGL02174
Quality Score
Status
Chromosome 2
Chromosomal Location 85992347-85993291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85992442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 284 (M284L)
Ref Sequence ENSEMBL: ENSMUSP00000149716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099907] [ENSMUST00000099908] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215624] [ENSMUST00000216028]
AlphaFold Q8VFK4
Predicted Effect possibly damaging
Transcript: ENSMUST00000099907
AA Change: M284L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201
AA Change: M284L

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 possibly damaging
Transcript: ENSMUST00000213886
AA Change: M284L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213949
AA Change: M284L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000215624
Predicted Effect possibly damaging
Transcript: ENSMUST00000216028
AA Change: M284L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
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
Abcc4 T C 14: 118,738,154 (GRCm39) I1199V probably damaging Het
Adgrv1 G A 13: 81,575,783 (GRCm39) T4861I probably benign Het
Ampd2 T C 3: 107,987,601 (GRCm39) D108G probably damaging Het
Azin1 A G 15: 38,493,730 (GRCm39) F298L probably benign Het
Bag1 T A 4: 40,941,555 (GRCm39) E123D possibly damaging Het
Cabs1 A G 5: 88,128,339 (GRCm39) E330G probably benign Het
Ccdc33 T C 9: 57,940,938 (GRCm39) K435E probably benign Het
Clip2 T G 5: 134,523,118 (GRCm39) K943T probably damaging Het
Cmya5 T C 13: 93,185,415 (GRCm39) I3527V possibly damaging Het
Cyp2w1 C T 5: 139,341,384 (GRCm39) R244C probably benign Het
Dcaf13 C A 15: 39,001,544 (GRCm39) A284E probably damaging Het
Ddx31 T A 2: 28,749,041 (GRCm39) L279Q probably damaging Het
Dgki A G 6: 37,009,856 (GRCm39) L497P probably damaging Het
Dnah12 A T 14: 26,428,072 (GRCm39) I233F probably benign Het
Dpp6 G T 5: 27,926,085 (GRCm39) G720* probably null Het
Emc1 T C 4: 139,098,979 (GRCm39) Y821H possibly damaging Het
Esr1 C T 10: 4,948,003 (GRCm39) R519W probably damaging Het
Gamt A T 10: 80,094,230 (GRCm39) V227E possibly damaging Het
Habp2 A G 19: 56,300,169 (GRCm39) Q206R probably damaging Het
Ihh A G 1: 74,990,105 (GRCm39) I90T probably damaging Het
Kif20b T C 19: 34,911,858 (GRCm39) probably benign Het
Lcp2 T C 11: 34,000,966 (GRCm39) probably benign Het
Lyrm2 A G 4: 32,800,649 (GRCm39) I29V probably benign Het
Macf1 T C 4: 123,385,587 (GRCm39) D1168G probably damaging Het
Mocos T C 18: 24,828,953 (GRCm39) S753P probably benign Het
Myo3a A G 2: 22,337,204 (GRCm39) E367G probably benign Het
Ndor1 G A 2: 25,139,206 (GRCm39) A255V possibly damaging Het
Nfat5 C T 8: 108,065,683 (GRCm39) P148S probably damaging Het
Or4c121 A T 2: 89,023,712 (GRCm39) F222Y probably benign Het
Or6z7 T C 7: 6,483,438 (GRCm39) Y239C probably benign Het
Or8b41 A T 9: 38,055,081 (GRCm39) T217S possibly damaging Het
Pappa2 C T 1: 158,589,188 (GRCm39) C1679Y probably damaging Het
Pcdhb2 T A 18: 37,429,551 (GRCm39) I508N probably damaging Het
Pkd2l1 G A 19: 44,145,707 (GRCm39) T172I probably benign Het
Pld5 A G 1: 176,102,310 (GRCm39) V44A possibly damaging Het
Prss44 T C 9: 110,646,199 (GRCm39) W309R probably damaging Het
Rc3h2 A T 2: 37,301,237 (GRCm39) N88K probably benign Het
Rspry1 A G 8: 95,359,768 (GRCm39) I102M possibly damaging Het
Stab2 A G 10: 86,695,606 (GRCm39) probably null Het
Tbx3 C A 5: 119,813,649 (GRCm39) Y228* probably null Het
Tcf15 G T 2: 151,986,065 (GRCm39) probably benign Het
Tmem41b A G 7: 109,578,003 (GRCm39) S94P possibly damaging Het
Trmt10b A T 4: 45,308,508 (GRCm39) I223F possibly damaging Het
Tyrp1 G T 4: 80,763,063 (GRCm39) G317* probably null Het
Urod T A 4: 116,847,479 (GRCm39) probably benign Het
Vwf G T 6: 125,532,358 (GRCm39) R52L probably damaging Het
Wnk2 C A 13: 49,210,643 (GRCm39) Q232H probably damaging Het
Zbtb10 C A 3: 9,316,872 (GRCm39) P228Q probably damaging Het
Zfp764l1 G A 7: 126,991,525 (GRCm39) T154I 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
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 2015-04-16