Incidental Mutation 'R7718:Adcy5'
ID 595066
Institutional Source Beutler Lab
Gene Symbol Adcy5
Ensembl Gene ENSMUSG00000022840
Gene Name adenylate cyclase 5
Synonyms AC5
MMRRC Submission 045775-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R7718 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 34975247-35126108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35100785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 779 (V779A)
Ref Sequence ENSEMBL: ENSMUSP00000110563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114913]
AlphaFold P84309
Predicted Effect probably benign
Transcript: ENSMUST00000114913
AA Change: V779A

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: V779A

DomainStartEndE-ValueType
low complexity region 47 59 N/A INTRINSIC
low complexity region 75 89 N/A INTRINSIC
low complexity region 107 150 N/A INTRINSIC
low complexity region 158 175 N/A INTRINSIC
low complexity region 181 208 N/A INTRINSIC
low complexity region 243 258 N/A INTRINSIC
low complexity region 269 288 N/A INTRINSIC
low complexity region 305 320 N/A INTRINSIC
low complexity region 350 368 N/A INTRINSIC
CYCc 424 623 2.62e-69 SMART
Pfam:DUF1053 669 762 1.8e-30 PFAM
transmembrane domain 794 816 N/A INTRINSIC
transmembrane domain 837 856 N/A INTRINSIC
transmembrane domain 910 932 N/A INTRINSIC
transmembrane domain 934 956 N/A INTRINSIC
transmembrane domain 985 1004 N/A INTRINSIC
CYCc 1032 1240 2.98e-50 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (77/78)
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 membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Targeted inactivation of this gene has been shown to result in motor dysfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A T 5: 138,646,122 (GRCm39) H669L possibly damaging Het
Abcb1a A T 5: 8,765,788 (GRCm39) N700I probably damaging Het
Abcc6 T C 7: 45,626,816 (GRCm39) K1414E possibly damaging Het
Agap2 A G 10: 126,915,734 (GRCm39) S82G possibly damaging Het
Aldh1l1 A G 6: 90,575,305 (GRCm39) N864S probably damaging Het
Ang2 A T 14: 51,433,217 (GRCm39) V55E probably benign Het
Ank2 A G 3: 126,758,662 (GRCm39) M179T possibly damaging Het
Atrnl1 T A 19: 57,728,615 (GRCm39) C1090* probably null Het
Atxn1l A G 8: 110,459,866 (GRCm39) L132P probably damaging Het
Bptf A G 11: 106,972,282 (GRCm39) V862A possibly damaging Het
Capn11 C A 17: 45,954,707 (GRCm39) K143N probably damaging Het
Card6 A G 15: 5,129,269 (GRCm39) V709A possibly damaging Het
Cavin4 C T 4: 48,671,984 (GRCm39) A143V probably benign Het
Cntn5 A G 9: 9,984,133 (GRCm39) I160T probably benign Het
Cyp2c40 T A 19: 39,755,782 (GRCm39) N511Y probably benign Het
Dsc2 A T 18: 20,174,835 (GRCm39) I480N probably damaging Het
Elf2 G T 3: 51,173,385 (GRCm39) probably benign Het
Enoph1 T C 5: 100,210,019 (GRCm39) V133A possibly damaging Het
Ezh2 A T 6: 47,531,125 (GRCm39) D186E probably benign Het
Fcgbpl1 T C 7: 27,846,626 (GRCm39) F1106S probably damaging Het
Gfra1 T C 19: 58,441,889 (GRCm39) D14G possibly damaging Het
Gmip C T 8: 70,270,383 (GRCm39) R698W probably damaging Het
Grk4 A G 5: 34,852,160 (GRCm39) N135D probably benign Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Htatip2 T G 7: 49,420,632 (GRCm39) H159Q possibly damaging Het
Igfn1 T C 1: 135,896,774 (GRCm39) E1264G probably benign Het
Insyn2b T C 11: 34,352,539 (GRCm39) S194P probably benign Het
Katnb1 T A 8: 95,821,836 (GRCm39) V223E possibly damaging Het
Klra6 AGG AG 6: 129,990,315 (GRCm39) probably null Het
Masp2 C T 4: 148,687,204 (GRCm39) R29C probably damaging Het
Mcm3 A T 1: 20,887,498 (GRCm39) C123* probably null Het
Mdn1 T C 4: 32,718,420 (GRCm39) V2225A probably damaging Het
Me1 A G 9: 86,561,953 (GRCm39) L44S probably damaging Het
Mlxip A G 5: 123,583,577 (GRCm39) N380S probably benign Het
Muc21 T C 17: 35,933,728 (GRCm39) T153A unknown Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Myocd A T 11: 65,109,452 (GRCm39) D106E probably damaging Het
Oat T C 7: 132,159,988 (GRCm39) I411V probably benign Het
Or2d2 A T 7: 106,727,925 (GRCm39) V225D probably damaging Het
Or5p59 T C 7: 107,702,855 (GRCm39) V113A probably benign Het
Or8k38 A G 2: 86,488,373 (GRCm39) V143A probably benign Het
Orc2 A T 1: 58,519,476 (GRCm39) H246Q possibly damaging Het
Pank4 A G 4: 155,059,100 (GRCm39) E411G probably damaging Het
Patl2 A T 2: 121,957,255 (GRCm39) probably null Het
Pcdhb15 A G 18: 37,608,216 (GRCm39) N483D probably damaging Het
Pcdhb20 A G 18: 37,638,704 (GRCm39) D410G probably damaging Het
Pdcl2 A G 5: 76,465,846 (GRCm39) C125R probably damaging Het
Peli3 C G 19: 4,984,584 (GRCm39) probably null Het
Pkd1 A G 17: 24,805,474 (GRCm39) D3313G probably benign Het
Plec A C 15: 76,061,639 (GRCm39) M2766R probably damaging Het
Ppargc1a C T 5: 51,655,504 (GRCm39) V99M probably damaging Het
Prr35 T A 17: 26,165,998 (GRCm39) R430* probably null Het
Psg19 G A 7: 18,526,368 (GRCm39) A374V probably benign Het
Psmd7 A T 8: 108,313,261 (GRCm39) F54L possibly damaging Het
Ptbp2 C T 3: 119,514,637 (GRCm39) G397R probably null Het
Ranbp3 A G 17: 57,003,718 (GRCm39) D39G probably damaging Het
Rcor3 T C 1: 191,786,021 (GRCm39) T406A probably benign Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Rpia A T 6: 70,743,602 (GRCm39) M283K probably damaging Het
Rps6kc1 T C 1: 190,604,022 (GRCm39) D200G probably benign Het
Sipa1l1 A T 12: 82,389,271 (GRCm39) K499M probably damaging Het
Slc5a4b A G 10: 75,906,407 (GRCm39) L404P probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spmip4 G A 6: 50,566,078 (GRCm39) probably null Het
St7 A C 6: 17,854,998 (GRCm39) T312P probably damaging Het
Strbp T C 2: 37,515,294 (GRCm39) E244G probably damaging Het
Tbc1d8 T G 1: 39,416,061 (GRCm39) T871P probably benign Het
Tcp1 T A 17: 13,141,049 (GRCm39) I286N probably damaging Het
Tead3 C A 17: 28,552,491 (GRCm39) V327F probably damaging Het
Tmem132c A T 5: 127,640,504 (GRCm39) T892S probably benign Het
Trmt2a T C 16: 18,068,487 (GRCm39) S65P probably benign Het
Ubp1 A G 9: 113,802,597 (GRCm39) N479S possibly damaging Het
Ubtfl1 A T 9: 18,320,527 (GRCm39) L18F possibly damaging Het
Uevld T G 7: 46,587,804 (GRCm39) M299L probably benign Het
Unc13b T A 4: 43,173,854 (GRCm39) Y1561N unknown Het
Ylpm1 A G 12: 85,075,896 (GRCm39) K874E probably damaging Het
Zbtb37 G A 1: 160,859,802 (GRCm39) R168W possibly damaging Het
Other mutations in Adcy5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Adcy5 APN 16 35,073,583 (GRCm39) missense possibly damaging 0.49
IGL01583:Adcy5 APN 16 35,103,883 (GRCm39) splice site probably benign
IGL01608:Adcy5 APN 16 35,092,535 (GRCm39) missense probably damaging 1.00
IGL02097:Adcy5 APN 16 35,092,468 (GRCm39) missense probably damaging 1.00
IGL02122:Adcy5 APN 16 35,103,982 (GRCm39) splice site probably benign
IGL02532:Adcy5 APN 16 35,092,453 (GRCm39) missense possibly damaging 0.79
IGL02814:Adcy5 APN 16 35,124,019 (GRCm39) missense probably benign 0.08
IGL02877:Adcy5 APN 16 35,118,970 (GRCm39) missense probably damaging 1.00
IGL03026:Adcy5 APN 16 34,977,412 (GRCm39) missense probably benign 0.41
IGL03345:Adcy5 APN 16 35,069,184 (GRCm39) missense probably benign 0.05
H8562:Adcy5 UTSW 16 35,087,551 (GRCm39) missense probably damaging 1.00
H8786:Adcy5 UTSW 16 35,087,551 (GRCm39) missense probably damaging 1.00
R0050:Adcy5 UTSW 16 35,124,673 (GRCm39) utr 3 prime probably benign
R0091:Adcy5 UTSW 16 35,091,368 (GRCm39) critical splice donor site probably null
R0112:Adcy5 UTSW 16 34,976,548 (GRCm39) missense possibly damaging 0.85
R0398:Adcy5 UTSW 16 35,089,438 (GRCm39) missense probably damaging 1.00
R0457:Adcy5 UTSW 16 35,094,915 (GRCm39) missense probably benign 0.07
R0554:Adcy5 UTSW 16 35,114,387 (GRCm39) missense probably benign 0.26
R0698:Adcy5 UTSW 16 35,110,452 (GRCm39) missense possibly damaging 0.78
R0761:Adcy5 UTSW 16 35,091,195 (GRCm39) splice site probably benign
R0865:Adcy5 UTSW 16 35,094,841 (GRCm39) missense probably damaging 0.96
R0927:Adcy5 UTSW 16 34,976,613 (GRCm39) missense probably benign 0.32
R0945:Adcy5 UTSW 16 35,110,481 (GRCm39) missense probably benign
R1534:Adcy5 UTSW 16 35,073,629 (GRCm39) missense possibly damaging 0.92
R1565:Adcy5 UTSW 16 35,089,327 (GRCm39) missense probably damaging 1.00
R1721:Adcy5 UTSW 16 35,118,794 (GRCm39) missense probably damaging 1.00
R1839:Adcy5 UTSW 16 35,069,310 (GRCm39) missense probably damaging 1.00
R2047:Adcy5 UTSW 16 35,110,478 (GRCm39) missense possibly damaging 0.78
R3052:Adcy5 UTSW 16 35,124,086 (GRCm39) missense probably damaging 1.00
R3053:Adcy5 UTSW 16 35,124,086 (GRCm39) missense probably damaging 1.00
R3827:Adcy5 UTSW 16 35,110,467 (GRCm39) missense probably benign 0.03
R4398:Adcy5 UTSW 16 35,089,363 (GRCm39) missense probably damaging 1.00
R4700:Adcy5 UTSW 16 35,099,586 (GRCm39) missense possibly damaging 0.49
R4965:Adcy5 UTSW 16 35,098,872 (GRCm39) missense possibly damaging 0.82
R5229:Adcy5 UTSW 16 35,089,440 (GRCm39) missense probably damaging 0.99
R5456:Adcy5 UTSW 16 35,118,892 (GRCm39) missense probably damaging 1.00
R5586:Adcy5 UTSW 16 34,977,486 (GRCm39) missense probably damaging 0.99
R5757:Adcy5 UTSW 16 35,092,451 (GRCm39) missense probably damaging 1.00
R5959:Adcy5 UTSW 16 35,118,780 (GRCm39) missense probably damaging 1.00
R6011:Adcy5 UTSW 16 34,977,598 (GRCm39) missense probably benign 0.05
R6277:Adcy5 UTSW 16 35,109,896 (GRCm39) missense probably benign 0.02
R6296:Adcy5 UTSW 16 35,124,080 (GRCm39) missense probably damaging 1.00
R6379:Adcy5 UTSW 16 35,114,369 (GRCm39) missense probably benign 0.13
R6431:Adcy5 UTSW 16 35,099,607 (GRCm39) missense probably damaging 1.00
R6685:Adcy5 UTSW 16 35,099,586 (GRCm39) missense possibly damaging 0.49
R6728:Adcy5 UTSW 16 34,977,535 (GRCm39) missense possibly damaging 0.88
R6755:Adcy5 UTSW 16 35,124,004 (GRCm39) missense possibly damaging 0.95
R6887:Adcy5 UTSW 16 35,118,960 (GRCm39) missense possibly damaging 0.74
R7029:Adcy5 UTSW 16 35,120,018 (GRCm39) missense probably null 0.91
R7047:Adcy5 UTSW 16 35,087,585 (GRCm39) missense probably damaging 1.00
R7050:Adcy5 UTSW 16 35,124,070 (GRCm39) missense possibly damaging 0.88
R7102:Adcy5 UTSW 16 35,119,995 (GRCm39) missense probably damaging 1.00
R7150:Adcy5 UTSW 16 35,118,904 (GRCm39) missense probably damaging 1.00
R7242:Adcy5 UTSW 16 34,977,205 (GRCm39) missense probably damaging 1.00
R7387:Adcy5 UTSW 16 35,092,460 (GRCm39) missense probably damaging 1.00
R7654:Adcy5 UTSW 16 35,091,317 (GRCm39) missense probably damaging 1.00
R7834:Adcy5 UTSW 16 34,977,570 (GRCm39) missense probably benign 0.03
R8172:Adcy5 UTSW 16 34,977,427 (GRCm39) missense probably damaging 0.96
R8772:Adcy5 UTSW 16 35,119,958 (GRCm39) missense probably damaging 1.00
R8983:Adcy5 UTSW 16 34,977,232 (GRCm39) missense possibly damaging 0.88
R9031:Adcy5 UTSW 16 35,119,859 (GRCm39) missense probably damaging 1.00
R9070:Adcy5 UTSW 16 35,100,770 (GRCm39) missense probably damaging 0.99
R9149:Adcy5 UTSW 16 35,092,481 (GRCm39) missense probably damaging 1.00
R9190:Adcy5 UTSW 16 35,089,364 (GRCm39) nonsense probably null
R9256:Adcy5 UTSW 16 35,124,052 (GRCm39) missense probably damaging 1.00
R9557:Adcy5 UTSW 16 35,091,327 (GRCm39) missense probably damaging 1.00
R9776:Adcy5 UTSW 16 35,100,725 (GRCm39) missense probably damaging 1.00
V7732:Adcy5 UTSW 16 35,103,911 (GRCm39) missense probably benign 0.00
X0022:Adcy5 UTSW 16 35,119,826 (GRCm39) missense probably damaging 0.99
Z1176:Adcy5 UTSW 16 35,111,914 (GRCm39) missense not run
Z1176:Adcy5 UTSW 16 35,110,555 (GRCm39) missense probably benign 0.03
Z1176:Adcy5 UTSW 16 34,976,691 (GRCm39) missense unknown
Z1177:Adcy5 UTSW 16 35,111,914 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- TCTGTGTAAGCCCAGCTCTG -3'
(R):5'- AGGAGTCTCTTGTGCAACTG -3'

Sequencing Primer
(F):5'- AGCTCTGGTCTCCATGTGTCATG -3'
(R):5'- CTGAGAATTGCCCAGTGAGGTC -3'
Posted On 2019-11-12