Incidental Mutation 'R6751:Adcy6'
ID 530805
Institutional Source Beutler Lab
Gene Symbol Adcy6
Ensembl Gene ENSMUSG00000022994
Gene Name adenylate cyclase 6
Synonyms AC6
MMRRC Submission 044868-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6751 (G1)
Quality Score 188.009
Status Not validated
Chromosome 15
Chromosomal Location 98487854-98507957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98494086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 817 (N817S)
Ref Sequence ENSEMBL: ENSMUSP00000154421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096224] [ENSMUST00000228566] [ENSMUST00000228903]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000096224
AA Change: N819S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994
AA Change: N819S

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 benign
Transcript: ENSMUST00000228566
AA Change: N817S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228596
Predicted Effect probably benign
Transcript: ENSMUST00000228903
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 95% (59/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,771,971 (GRCm39) N387Y probably damaging Het
Abhd17a T C 10: 80,422,421 (GRCm39) E87G probably damaging Het
Aco1 T A 4: 40,188,330 (GRCm39) probably null Het
Ak8 T A 2: 28,599,957 (GRCm39) L63* probably null Het
Arhgef28 G A 13: 98,211,755 (GRCm39) S76L probably damaging Het
Asap1 A G 15: 63,966,261 (GRCm39) L891S possibly damaging Het
Cacng5 C A 11: 107,768,379 (GRCm39) M209I probably benign Het
Casr T C 16: 36,335,950 (GRCm39) I120V probably benign Het
Ccnq T C 11: 78,641,950 (GRCm39) Y180C probably damaging Het
Chd7 T C 4: 8,833,866 (GRCm39) Y1207H probably damaging Het
Chrnb2 A T 3: 89,668,883 (GRCm39) F144Y probably damaging Het
Cyp4a14 T A 4: 115,348,391 (GRCm39) H362L probably damaging Het
Dnaaf4 A G 9: 72,869,257 (GRCm39) T156A probably benign Het
Dym G A 18: 75,419,718 (GRCm39) V630M probably damaging Het
Dync2i1 A T 12: 116,177,076 (GRCm39) V842E possibly damaging Het
Dyrk1b C A 7: 27,886,134 (GRCm39) P619Q probably damaging Het
Eml5 T C 12: 98,831,659 (GRCm39) D433G probably damaging Het
Frem2 A T 3: 53,561,086 (GRCm39) S1140R probably damaging Het
Gabra5 T C 7: 57,068,082 (GRCm39) R255G probably damaging Het
Galnt17 T A 5: 131,110,428 (GRCm39) I304F probably damaging Het
Gpc5 A G 14: 115,607,363 (GRCm39) S322G probably benign Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Hmcn1 T A 1: 150,610,269 (GRCm39) N1467Y probably damaging Het
Ifna6 T C 4: 88,745,987 (GRCm39) L112P probably damaging Het
Ifrd1 C T 12: 40,253,913 (GRCm39) probably null Het
Il17f A G 1: 20,849,713 (GRCm39) M17T probably benign Het
Itga11 G A 9: 62,675,866 (GRCm39) V892I probably benign Het
Nckap5l A G 15: 99,321,042 (GRCm39) L1246P probably damaging Het
Nlrp4f A T 13: 65,342,243 (GRCm39) H467Q probably damaging Het
Ntng2 A G 2: 29,118,055 (GRCm39) V131A possibly damaging Het
Or51r1 G A 7: 102,227,706 (GRCm39) M1I probably null Het
Or8b40 T G 9: 38,027,271 (GRCm39) Y60D probably damaging Het
Or8g37 T A 9: 39,731,193 (GRCm39) V86E probably benign Het
Or8g55 T C 9: 39,784,976 (GRCm39) V135A probably benign Het
Osbpl8 T C 10: 111,110,874 (GRCm39) Y459H possibly damaging Het
Pabpc1 A T 15: 36,597,778 (GRCm39) V537D possibly damaging Het
Pde4b A T 4: 102,459,868 (GRCm39) M583L probably damaging Het
Phlda1 T C 10: 111,342,555 (GRCm39) V97A possibly damaging Het
Pik3cb G T 9: 98,976,574 (GRCm39) H174Q probably benign Het
Plxdc2 A T 2: 16,552,952 (GRCm39) I117F probably benign Het
Psapl1 C A 5: 36,362,303 (GRCm39) C298* probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Rtkn2 T A 10: 67,877,283 (GRCm39) F448I probably benign Het
Scn10a T C 9: 119,500,617 (GRCm39) R221G probably damaging Het
Serpina3c A G 12: 104,117,759 (GRCm39) L193P probably damaging Het
Sox12 T C 2: 152,238,678 (GRCm39) Y314C probably damaging Het
Spata31h1 A G 10: 82,119,331 (GRCm39) S4560P probably benign Het
Sptbn1 T C 11: 30,067,859 (GRCm39) E1772G probably damaging Het
Supt6 A G 11: 78,099,775 (GRCm39) V1570A probably benign Het
Synrg T C 11: 83,872,251 (GRCm39) F125S probably damaging Het
Tenm4 A T 7: 96,494,919 (GRCm39) I1116F possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tfap2d C A 1: 19,173,507 (GRCm39) H10N possibly damaging Het
Trpm8 T C 1: 88,312,428 (GRCm39) I1103T possibly damaging Het
Vmn1r158 C T 7: 22,489,306 (GRCm39) C301Y probably damaging Het
Vmn2r56 T C 7: 12,428,719 (GRCm39) I516V probably benign Het
Vmn2r71 G A 7: 85,269,095 (GRCm39) probably null Het
Vnn3 C T 10: 23,745,523 (GRCm39) R491C probably benign Het
Vps50 A G 6: 3,600,274 (GRCm39) Y911C probably damaging Het
Zfp772 C T 7: 7,206,716 (GRCm39) R325Q possibly damaging Het
Zranb3 T A 1: 127,887,556 (GRCm39) H957L probably benign Het
Zscan20 G T 4: 128,479,668 (GRCm39) T941K probably damaging Het
Zscan25 T A 5: 145,227,373 (GRCm39) F346I probably damaging Het
Other mutations in Adcy6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Adcy6 APN 15 98,496,857 (GRCm39) missense probably damaging 1.00
IGL01132:Adcy6 APN 15 98,495,732 (GRCm39) missense probably benign 0.14
IGL01642:Adcy6 APN 15 98,492,390 (GRCm39) missense possibly damaging 0.88
IGL01647:Adcy6 APN 15 98,498,156 (GRCm39) missense probably damaging 1.00
IGL01788:Adcy6 APN 15 98,494,400 (GRCm39) nonsense probably null
IGL02122:Adcy6 APN 15 98,496,763 (GRCm39) missense possibly damaging 0.66
IGL02210:Adcy6 APN 15 98,492,852 (GRCm39) missense possibly damaging 0.63
IGL02249:Adcy6 APN 15 98,497,795 (GRCm39) missense probably damaging 1.00
IGL02404:Adcy6 APN 15 98,494,819 (GRCm39) missense probably benign
IGL02691:Adcy6 APN 15 98,502,185 (GRCm39) missense probably damaging 1.00
PIT4515001:Adcy6 UTSW 15 98,493,027 (GRCm39) missense probably benign 0.04
R0178:Adcy6 UTSW 15 98,502,096 (GRCm39) missense probably benign 0.00
R0497:Adcy6 UTSW 15 98,495,606 (GRCm39) critical splice donor site probably null
R0739:Adcy6 UTSW 15 98,496,260 (GRCm39) missense probably benign 0.00
R1454:Adcy6 UTSW 15 98,502,609 (GRCm39) missense probably damaging 1.00
R1473:Adcy6 UTSW 15 98,490,624 (GRCm39) missense probably damaging 0.99
R1536:Adcy6 UTSW 15 98,497,888 (GRCm39) missense probably damaging 1.00
R1927:Adcy6 UTSW 15 98,496,379 (GRCm39) splice site probably null
R2178:Adcy6 UTSW 15 98,492,236 (GRCm39) missense probably damaging 1.00
R2294:Adcy6 UTSW 15 98,495,322 (GRCm39) missense possibly damaging 0.48
R2356:Adcy6 UTSW 15 98,494,897 (GRCm39) splice site probably null
R2898:Adcy6 UTSW 15 98,491,369 (GRCm39) missense probably damaging 1.00
R3001:Adcy6 UTSW 15 98,494,541 (GRCm39) missense probably benign 0.01
R3002:Adcy6 UTSW 15 98,494,541 (GRCm39) missense probably benign 0.01
R3794:Adcy6 UTSW 15 98,496,824 (GRCm39) missense probably damaging 1.00
R3884:Adcy6 UTSW 15 98,495,055 (GRCm39) missense probably benign 0.06
R4348:Adcy6 UTSW 15 98,502,041 (GRCm39) missense probably benign 0.44
R4351:Adcy6 UTSW 15 98,502,041 (GRCm39) missense probably benign 0.44
R4542:Adcy6 UTSW 15 98,496,869 (GRCm39) missense possibly damaging 0.70
R4548:Adcy6 UTSW 15 98,496,540 (GRCm39) missense probably damaging 1.00
R5693:Adcy6 UTSW 15 98,501,870 (GRCm39) missense probably damaging 1.00
R5707:Adcy6 UTSW 15 98,496,622 (GRCm39) missense probably damaging 1.00
R5994:Adcy6 UTSW 15 98,491,545 (GRCm39) missense probably damaging 1.00
R5998:Adcy6 UTSW 15 98,492,235 (GRCm39) nonsense probably null
R6142:Adcy6 UTSW 15 98,496,303 (GRCm39) missense probably benign
R6242:Adcy6 UTSW 15 98,501,896 (GRCm39) nonsense probably null
R6305:Adcy6 UTSW 15 98,496,526 (GRCm39) missense probably benign 0.13
R7130:Adcy6 UTSW 15 98,495,110 (GRCm39) missense probably benign
R7335:Adcy6 UTSW 15 98,501,757 (GRCm39) missense probably benign 0.29
R7643:Adcy6 UTSW 15 98,491,449 (GRCm39) missense probably benign
R7658:Adcy6 UTSW 15 98,493,948 (GRCm39) missense probably benign 0.00
R7748:Adcy6 UTSW 15 98,502,437 (GRCm39) missense probably benign 0.01
R7761:Adcy6 UTSW 15 98,497,895 (GRCm39) missense probably damaging 1.00
R7774:Adcy6 UTSW 15 98,494,414 (GRCm39) missense probably benign
R7954:Adcy6 UTSW 15 98,494,773 (GRCm39) critical splice donor site probably null
R8259:Adcy6 UTSW 15 98,498,919 (GRCm39) missense probably damaging 0.97
R8260:Adcy6 UTSW 15 98,498,919 (GRCm39) missense probably damaging 0.97
R8520:Adcy6 UTSW 15 98,502,041 (GRCm39) missense probably benign
R8790:Adcy6 UTSW 15 98,496,881 (GRCm39) missense probably damaging 1.00
R8834:Adcy6 UTSW 15 98,498,922 (GRCm39) missense possibly damaging 0.94
R8951:Adcy6 UTSW 15 98,502,140 (GRCm39) missense possibly damaging 0.95
R9297:Adcy6 UTSW 15 98,491,466 (GRCm39) missense possibly damaging 0.91
R9318:Adcy6 UTSW 15 98,491,466 (GRCm39) missense possibly damaging 0.91
X0020:Adcy6 UTSW 15 98,496,616 (GRCm39) missense probably damaging 0.99
X0021:Adcy6 UTSW 15 98,501,823 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GAGGGACTGTGGATTAGCTTAC -3'
(R):5'- CTCAAAGTATTCCCCGACTCTAGG -3'

Sequencing Primer
(F):5'- GCTTACAAGCCATGGACGC -3'
(R):5'- CCCGACTCTAGGGGCAAC -3'
Posted On 2018-08-01