Incidental Mutation 'IGL03084:Or5al7'
ID 417992
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: 0.055) question?
Stock # IGL03084
Quality Score
Status
Chromosome 2
Chromosomal Location 85992347-85993291 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 85992569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 241 (C241*)
Ref Sequence ENSEMBL: ENSMUSP00000149716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099907] [ENSMUST00000099908] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215624] [ENSMUST00000216028]
AlphaFold Q8VFK4
Predicted Effect probably null
Transcript: ENSMUST00000099907
AA Change: C241*
SMART Domains Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201
AA Change: C241*

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 null
Transcript: ENSMUST00000213886
AA Change: C241*
Predicted Effect probably null
Transcript: ENSMUST00000213949
AA Change: C241*
Predicted Effect probably benign
Transcript: ENSMUST00000215624
Predicted Effect probably null
Transcript: ENSMUST00000216028
AA Change: C241*
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
Aars1 G T 8: 111,768,261 (GRCm39) V211L probably damaging Het
BC024139 T C 15: 76,004,007 (GRCm39) D753G probably benign Het
Brpf3 A G 17: 29,054,751 (GRCm39) M1098V probably damaging Het
Cachd1 T A 4: 100,860,285 (GRCm39) D1285E probably damaging Het
Cacna1b T C 2: 24,499,944 (GRCm39) T147A probably benign Het
Cdc14a A G 3: 116,142,101 (GRCm39) probably null Het
Cfhr4 T A 1: 139,708,880 (GRCm39) L9F possibly damaging Het
Chd1 A G 17: 15,990,560 (GRCm39) H1704R probably benign Het
Dmkn T G 7: 30,470,481 (GRCm39) N367K possibly damaging Het
Fam151b C A 13: 92,604,534 (GRCm39) D152Y probably damaging Het
Gabrg3 T C 7: 56,384,812 (GRCm39) S250G possibly damaging Het
Gm28042 A G 2: 119,870,986 (GRCm39) Q833R probably benign Het
Gnpat A C 8: 125,605,638 (GRCm39) Y336S probably damaging Het
Ighv1-54 G A 12: 115,157,736 (GRCm39) probably benign Het
Irag1 A G 7: 110,485,036 (GRCm39) probably benign Het
Kif2c T C 4: 117,035,355 (GRCm39) N31S possibly damaging Het
Larp1 T A 11: 57,947,921 (GRCm39) L939Q probably damaging Het
Lrrc69 G A 4: 14,708,631 (GRCm39) P238S probably damaging Het
Lypd10 T C 7: 24,413,605 (GRCm39) I207T possibly damaging Het
Lztfl1 C T 9: 123,538,641 (GRCm39) G152E probably damaging Het
Man2a2 T C 7: 80,002,691 (GRCm39) T1097A possibly damaging Het
Myh4 A G 11: 67,142,777 (GRCm39) probably null Het
Nab2 C T 10: 127,500,346 (GRCm39) V249M probably damaging Het
Nid2 A T 14: 19,819,000 (GRCm39) D498V probably benign Het
Nrap T C 19: 56,353,886 (GRCm39) T404A probably damaging Het
Or51i1 A G 7: 103,670,838 (GRCm39) V229A probably benign Het
Or5c1 T C 2: 37,222,413 (GRCm39) I218T probably damaging Het
Or8c9 T G 9: 38,241,513 (GRCm39) I210S probably damaging Het
Pard3 A G 8: 128,319,573 (GRCm39) I1104V probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ppfia3 A G 7: 44,989,651 (GRCm39) V1187A probably benign Het
Ppp1r16b G A 2: 158,603,413 (GRCm39) W346* probably null Het
Rpl4 A G 9: 64,085,599 (GRCm39) probably benign Het
Scn8a A T 15: 100,915,053 (GRCm39) I1206F probably damaging Het
Slc5a2 T C 7: 127,865,776 (GRCm39) S61P probably benign Het
Smarcal1 T C 1: 72,638,094 (GRCm39) probably null Het
Smyd4 A G 11: 75,281,433 (GRCm39) H302R probably benign Het
Sntb1 A G 15: 55,655,487 (GRCm39) I243T probably damaging Het
Stx8 C T 11: 67,911,782 (GRCm39) Q167* probably null Het
Sycp2 C A 2: 178,033,584 (GRCm39) probably benign Het
Ttn A T 2: 76,626,742 (GRCm39) V13088D probably damaging Het
Ugt2b1 T A 5: 87,074,243 (GRCm39) M39L probably benign Het
Utp6 A T 11: 79,853,042 (GRCm39) probably null Het
Vmn1r189 A T 13: 22,286,008 (GRCm39) Y276* probably null Het
Vmn2r11 T A 5: 109,207,209 (GRCm39) D37V probably benign Het
Vmn2r16 T G 5: 109,478,292 (GRCm39) F16V probably damaging Het
Vmn2r65 A T 7: 84,592,354 (GRCm39) M538K probably damaging Het
Zfp143 T A 7: 109,668,818 (GRCm39) probably benign 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
IGL02511:Or5al7 APN 2 85,992,363 (GRCm39) missense probably benign 0.00
IGL02578:Or5al7 APN 2 85,993,073 (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 2016-08-02