Incidental Mutation 'R0739:Adcy6'
ID 70643
Institutional Source Beutler Lab
Gene Symbol Adcy6
Ensembl Gene ENSMUSG00000022994
Gene Name adenylate cyclase 6
Synonyms AC6
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 98487854-98507957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98496260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 593 (D593G)
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: D595G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994
AA Change: D595G

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: D593G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228596
Predicted Effect probably benign
Transcript: ENSMUST00000228903
Meta Mutation Damage Score 0.0646 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S 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
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
R6751:Adcy6 UTSW 15 98,494,086 (GRCm39) missense probably benign
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'- CTTTGGGTGAAACTACTCCCTCTGC -3'
(R):5'- TGAGAGAGCCAGAGTCTTAACCTCC -3'

Sequencing Primer
(F):5'- AACTACTCCCTCTGCTCCCAG -3'
(R):5'- CACGCTACTGCACAGAAAGA -3'
Posted On 2013-09-30