Incidental Mutation 'IGL01788:Adcy6'
ID155145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adcy6
Ensembl Gene ENSMUSG00000022994
Gene Nameadenylate cyclase 6
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01788
Quality Score
Status
Chromosome15
Chromosomal Location98589973-98610076 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 98596519 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 812 (E812*)
Ref Sequence ENSEMBL: ENSMUSP00000154421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096224] [ENSMUST00000228566] [ENSMUST00000228903]
Predicted Effect probably null
Transcript: ENSMUST00000096224
AA Change: E814*
SMART Domains Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994
AA Change: E814*

DomainStartEndE-ValueType
low complexity region 150 166 N/A INTRINSIC
low complexity region 169 177 N/A INTRINSIC
low complexity region 212 228 N/A INTRINSIC
CYCc 331 532 2.95e-63 SMART
Pfam:DUF1053 580 669 3.5e-18 PFAM
transmembrane domain 701 723 N/A INTRINSIC
transmembrane domain 744 763 N/A INTRINSIC
transmembrane domain 815 834 N/A INTRINSIC
transmembrane domain 839 861 N/A INTRINSIC
Blast:CYCc 885 929 5e-20 BLAST
CYCc 939 1147 4.81e-45 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226236
Predicted Effect probably null
Transcript: ENSMUST00000228566
AA Change: E812*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228596
Predicted Effect probably benign
Transcript: ENSMUST00000228903
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for disruption of this gene show a reduction in calcium uptake and transport in cardiomyocytes as well as mild functional abnormalities in the left ventricle. Mice homozygous for a conditional allele activated in collecting ducts exhibit decreased urine osmilality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T G 11: 51,091,715 noncoding transcript Het
Acp6 A G 3: 97,165,882 T80A probably damaging Het
Adamtsl5 T C 10: 80,344,923 T102A probably benign Het
Apol6 G A 15: 77,051,016 V162I possibly damaging Het
Atp6v1h T A 1: 5,149,983 M396K possibly damaging Het
B3gnt8 A G 7: 25,629,188 T348A probably damaging Het
Cgnl1 A G 9: 71,655,390 V869A probably benign Het
Dcaf5 A T 12: 80,348,324 I357N probably damaging Het
Dennd4a A G 9: 64,842,621 I165V probably benign Het
Dlgap2 T A 8: 14,843,631 I982K probably benign Het
Dopey1 A T 9: 86,531,719 H1891L probably benign Het
Fhad1 A C 4: 141,932,802 S65R probably benign Het
Fn1 A G 1: 71,613,837 I1331T probably damaging Het
Fto A T 8: 91,409,731 Y211F probably benign Het
Gm3278 A C 14: 4,893,332 R60S probably benign Het
Ifna9 A G 4: 88,591,860 S176P probably damaging Het
Klk1 T C 7: 44,228,983 I189T probably benign Het
Mcph1 G A 8: 18,632,403 G519R probably damaging Het
Mcph1 G A 8: 18,632,404 G519E probably damaging Het
N4bp1 A T 8: 86,860,996 V438E probably benign Het
Ncapg T A 5: 45,671,081 V58E probably damaging Het
Nid2 T A 14: 19,807,979 S1054T probably damaging Het
Nlrp4a A T 7: 26,454,067 Y681F probably benign Het
Olfr1308 T C 2: 111,961,007 D22G probably benign Het
Olfr1442 G A 19: 12,675,078 R291K probably damaging Het
Olfr603 C A 7: 103,383,563 M146I probably benign Het
Olfr726 A G 14: 50,084,502 Y60H probably damaging Het
Papln A T 12: 83,775,462 T364S probably benign Het
Pcdh18 C A 3: 49,755,922 E315* probably null Het
Pmel G A 10: 128,717,832 R445Q probably damaging Het
Ppp1r12b C T 1: 134,893,507 V182I possibly damaging Het
Ptprn2 A G 12: 116,900,987 T541A probably damaging Het
Rbl1 A T 2: 157,163,656 N813K probably benign Het
Sash1 C A 10: 8,733,646 R713L probably benign Het
Slc13a1 T G 6: 24,134,372 T171P probably damaging Het
Slc18b1 G T 10: 23,826,001 E407D probably damaging Het
Slc2a6 G A 2: 27,024,215 Q297* probably null Het
Vmn1r209 T C 13: 22,805,662 H286R probably damaging Het
Vmn1r28 C A 6: 58,265,537 H122N probably benign Het
Wfs1 A G 5: 36,968,636 Y304H probably benign Het
Zfp512b A G 2: 181,588,763 S445P possibly damaging Het
Other mutations in Adcy6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Adcy6 APN 15 98598976 missense probably damaging 1.00
IGL01132:Adcy6 APN 15 98597851 missense probably benign 0.14
IGL01642:Adcy6 APN 15 98594509 missense possibly damaging 0.88
IGL01647:Adcy6 APN 15 98600275 missense probably damaging 1.00
IGL02122:Adcy6 APN 15 98598882 missense possibly damaging 0.66
IGL02210:Adcy6 APN 15 98594971 missense possibly damaging 0.63
IGL02249:Adcy6 APN 15 98599914 missense probably damaging 1.00
IGL02404:Adcy6 APN 15 98596938 missense probably benign
IGL02691:Adcy6 APN 15 98604304 missense probably damaging 1.00
PIT4515001:Adcy6 UTSW 15 98595146 missense probably benign 0.04
R0178:Adcy6 UTSW 15 98604215 missense probably benign 0.00
R0497:Adcy6 UTSW 15 98597725 critical splice donor site probably null
R0739:Adcy6 UTSW 15 98598379 missense probably benign 0.00
R1454:Adcy6 UTSW 15 98604728 missense probably damaging 1.00
R1473:Adcy6 UTSW 15 98592743 missense probably damaging 0.99
R1536:Adcy6 UTSW 15 98600007 missense probably damaging 1.00
R1927:Adcy6 UTSW 15 98598498 splice site probably null
R2178:Adcy6 UTSW 15 98594355 missense probably damaging 1.00
R2294:Adcy6 UTSW 15 98597441 missense possibly damaging 0.48
R2356:Adcy6 UTSW 15 98597016 splice site probably null
R2898:Adcy6 UTSW 15 98593488 missense probably damaging 1.00
R3001:Adcy6 UTSW 15 98596660 missense probably benign 0.01
R3002:Adcy6 UTSW 15 98596660 missense probably benign 0.01
R3794:Adcy6 UTSW 15 98598943 missense probably damaging 1.00
R3884:Adcy6 UTSW 15 98597174 missense probably benign 0.06
R4348:Adcy6 UTSW 15 98604160 missense probably benign 0.44
R4351:Adcy6 UTSW 15 98604160 missense probably benign 0.44
R4542:Adcy6 UTSW 15 98598988 missense possibly damaging 0.70
R4548:Adcy6 UTSW 15 98598659 missense probably damaging 1.00
R5693:Adcy6 UTSW 15 98603989 missense probably damaging 1.00
R5707:Adcy6 UTSW 15 98598741 missense probably damaging 1.00
R5994:Adcy6 UTSW 15 98593664 missense probably damaging 1.00
R5998:Adcy6 UTSW 15 98594354 nonsense probably null
R6142:Adcy6 UTSW 15 98598422 missense probably benign
R6242:Adcy6 UTSW 15 98604015 nonsense probably null
R6305:Adcy6 UTSW 15 98598645 missense probably benign 0.13
R6751:Adcy6 UTSW 15 98596205 missense probably benign
R7130:Adcy6 UTSW 15 98597229 missense probably benign
R7335:Adcy6 UTSW 15 98603876 missense probably benign 0.29
X0020:Adcy6 UTSW 15 98598735 missense probably damaging 0.99
X0021:Adcy6 UTSW 15 98603942 missense probably benign 0.08
Posted On2014-02-04