Incidental Mutation 'R8520:Adcy6'
ID 658611
Institutional Source Beutler Lab
Gene Symbol Adcy6
Ensembl Gene ENSMUSG00000022994
Gene Name adenylate cyclase 6
Synonyms AC6
MMRRC Submission 067947-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8520 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 98487854-98507957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98502041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 191 (V191A)
Ref Sequence ENSEMBL: ENSMUSP00000154696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096224] [ENSMUST00000226500] [ENSMUST00000227501] [ENSMUST00000228566] [ENSMUST00000228903]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000096224
AA Change: V191A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994
AA Change: V191A

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 probably benign
Transcript: ENSMUST00000226500
Predicted Effect probably benign
Transcript: ENSMUST00000227501
AA Change: V191A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228566
AA Change: V191A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228903
AA Change: V191A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,838,423 (GRCm39) F136L possibly damaging Het
A430033K04Rik T A 5: 138,644,968 (GRCm39) N284K possibly damaging Het
Abcb1a T C 5: 8,735,346 (GRCm39) I151T possibly damaging Het
Adam28 C T 14: 68,879,532 (GRCm39) G172D probably damaging Het
Ankrd52 T C 10: 128,225,359 (GRCm39) L911P probably damaging Het
C5ar1 A G 7: 15,982,076 (GRCm39) S315P probably damaging Het
Cubn A G 2: 13,313,331 (GRCm39) probably null Het
Dlec1 T C 9: 118,941,277 (GRCm39) S276P probably benign Het
Dnah14 T A 1: 181,481,203 (GRCm39) I1564N probably damaging Het
Dsg2 G A 18: 20,712,508 (GRCm39) G171R probably damaging Het
Dusp13b C A 14: 21,793,538 (GRCm39) G208* probably null Het
Ebf3 A C 7: 136,802,853 (GRCm39) probably null Het
Fbn2 A T 18: 58,171,270 (GRCm39) probably null Het
Fbxo27 A G 7: 28,392,767 (GRCm39) D16G probably benign Het
G6pc3 A G 11: 102,083,934 (GRCm39) S187G probably benign Het
Gucy2d G A 7: 98,121,513 (GRCm39) V995I probably null Het
Hmcn2 C A 2: 31,244,726 (GRCm39) P728T probably damaging Het
Il1r2 T C 1: 40,144,499 (GRCm39) L62P probably damaging Het
Ints7 T C 1: 191,314,603 (GRCm39) S63P probably damaging Het
Lyset T A 12: 102,710,431 (GRCm39) probably null Het
Mcf2l C A 8: 12,930,089 (GRCm39) D36E probably benign Het
Mfsd13b T G 7: 120,590,586 (GRCm39) I109S probably benign Het
Mier2 G A 10: 79,378,263 (GRCm39) H385Y possibly damaging Het
Mydgf C A 17: 56,490,734 (GRCm39) probably null Het
Nanog A T 6: 122,690,475 (GRCm39) L268F possibly damaging Het
Or12j5 T A 7: 140,084,315 (GRCm39) D19V probably benign Het
Or14a259 A T 7: 86,013,471 (GRCm39) C25S probably benign Het
Otud4 T A 8: 80,385,896 (GRCm39) N256K probably damaging Het
P2rx1 A T 11: 72,899,779 (GRCm39) D128V probably benign Het
Pappa G A 4: 65,254,001 (GRCm39) V1552I probably benign Het
Pax8 A T 2: 24,333,034 (GRCm39) F103I probably damaging Het
Ptk2b T A 14: 66,412,204 (GRCm39) S396C probably damaging Het
Rnf148 A G 6: 23,654,169 (GRCm39) Y276H probably damaging Het
Sec11c A T 18: 65,947,911 (GRCm39) I93L probably damaging Het
Serpinb2 T A 1: 107,450,910 (GRCm39) N217K probably benign Het
Slc2a13 T A 15: 91,457,105 (GRCm39) T66S probably damaging Het
Slc4a3 T C 1: 75,526,506 (GRCm39) M9T probably benign Het
Sord G A 2: 122,087,423 (GRCm39) V176I possibly damaging Het
Thbs4 G A 13: 92,890,792 (GRCm39) Q892* probably null Het
Thsd7b T A 1: 129,849,157 (GRCm39) D956E probably benign Het
Topbp1 T A 9: 103,186,176 (GRCm39) probably null Het
Tst T C 15: 78,289,453 (GRCm39) E194G probably damaging Het
Ttk T A 9: 83,739,380 (GRCm39) S484T possibly damaging Het
U2surp A G 9: 95,384,607 (GRCm39) S26P possibly damaging Het
Ugt2b37 C T 5: 87,388,714 (GRCm39) A500T probably benign Het
Utrn A T 10: 12,545,930 (GRCm39) Y1669* probably null Het
Vmn2r23 A T 6: 123,718,615 (GRCm39) Q656L probably damaging Het
Wdr7 A G 18: 64,120,231 (GRCm39) N1424S probably benign Het
Xkr9 A G 1: 13,771,603 (GRCm39) D373G probably benign Het
Zfp984 T A 4: 147,840,668 (GRCm39) Y61F probably benign 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
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
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'- TGCCAGGCCAAAATCAAATG -3'
(R):5'- GTCTAAGCAGTTCCGCTCTG -3'

Sequencing Primer
(F):5'- AGGCCGCTGAGTACTGC -3'
(R):5'- AGTTCCGCTCTGCCAAGC -3'
Posted On 2021-01-18