Incidental Mutation 'R4548:Adcy6'
ID 333880
Institutional Source Beutler Lab
Gene Symbol Adcy6
Ensembl Gene ENSMUSG00000022994
Gene Name adenylate cyclase 6
Synonyms AC6
MMRRC Submission 041594-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4548 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 98487854-98507957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98496540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 545 (I545T)
Ref Sequence ENSEMBL: ENSMUSP00000154421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096224] [ENSMUST00000228566] [ENSMUST00000228903]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000096224
AA Change: I547T

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994
AA Change: I547T

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 damaging
Transcript: ENSMUST00000228566
AA Change: I545T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228596
Predicted Effect probably benign
Transcript: ENSMUST00000228903
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,553,245 (GRCm39) F155L possibly damaging Het
Afg2a T A 3: 37,486,176 (GRCm39) N299K probably benign Het
Akip1 C A 7: 109,304,193 (GRCm39) S90* probably null Het
Anln T C 9: 22,274,184 (GRCm39) D551G possibly damaging Het
Arhgef17 T C 7: 100,580,336 (GRCm39) Q204R possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bcl2l11 A G 2: 127,971,566 (GRCm39) E75G probably benign Het
Cfap45 A G 1: 172,372,675 (GRCm39) I457V probably benign Het
Cfap65 G A 1: 74,946,771 (GRCm39) T1313I probably damaging Het
Cntln C A 4: 85,015,079 (GRCm39) H1123Q probably benign Het
Cops3 C T 11: 59,718,671 (GRCm39) probably null Het
Dis3l2 A T 1: 86,977,393 (GRCm39) T861S probably benign Het
Dnajc11 A G 4: 152,058,074 (GRCm39) N281S possibly damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fras1 A G 5: 96,857,754 (GRCm39) D2016G probably benign Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
Greb1 T C 12: 16,749,676 (GRCm39) D1050G probably damaging Het
Kcnh6 T C 11: 105,899,875 (GRCm39) F48S probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Mrm2 T C 5: 140,314,251 (GRCm39) T195A probably benign Het
Myzap T C 9: 71,457,528 (GRCm39) E289G possibly damaging Het
Nemp1 A G 10: 127,532,213 (GRCm39) E373G probably benign Het
Or13c7 T A 4: 43,854,834 (GRCm39) I175N probably damaging Het
Or8h10 T C 2: 86,809,014 (GRCm39) N42S probably damaging Het
Polr1c A T 17: 46,558,735 (GRCm39) probably null Het
Rev1 A G 1: 38,098,275 (GRCm39) M756T possibly damaging Het
Sacs A G 14: 61,429,387 (GRCm39) D482G probably damaging Het
Sfrp4 A G 13: 19,807,936 (GRCm39) M112V possibly damaging Het
Slc7a4 T C 16: 17,393,209 (GRCm39) T197A probably benign Het
Snx27 C T 3: 94,433,746 (GRCm39) probably benign Het
Speer2 T C 16: 69,655,737 (GRCm39) K30E probably damaging Het
Ssh2 G A 11: 77,341,010 (GRCm39) A721T probably benign Het
Trappc3 A G 4: 126,166,544 (GRCm39) D39G possibly damaging Het
Ttc28 G A 5: 111,419,090 (GRCm39) S1362N possibly damaging Het
Ugt2b35 A T 5: 87,156,134 (GRCm39) K409* probably null Het
Vmn2r92 A T 17: 18,391,578 (GRCm39) M527L probably benign Het
Zbed5 T A 5: 129,931,692 (GRCm39) L547* probably null 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
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'- GTGCAGTAGCGTGAGTATAGGC -3'
(R):5'- TGACCCTGGCTAACCACATG -3'

Sequencing Primer
(F):5'- CGTGAGTATAGGCTCAGAAGC -3'
(R):5'- TGGCTAACCACATGGAGGC -3'
Posted On 2015-08-18