Incidental Mutation 'IGL01583:Adcy5'
ID 91455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adcy5
Ensembl Gene ENSMUSG00000022840
Gene Name adenylate cyclase 5
Synonyms AC5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # IGL01583
Quality Score
Status
Chromosome 16
Chromosomal Location 34975247-35126108 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 35103883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114913]
AlphaFold P84309
Predicted Effect probably benign
Transcript: ENSMUST00000114913
SMART Domains Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231960
Coding Region Coverage
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 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,126,753 (GRCm39) M329K possibly damaging Het
Abce1 G A 8: 80,420,076 (GRCm39) T300M probably damaging Het
Acap1 G A 11: 69,772,503 (GRCm39) S536L probably damaging Het
Ap2b1 G T 11: 83,215,437 (GRCm39) R127L possibly damaging Het
Asxl3 T G 18: 22,649,654 (GRCm39) S548A probably benign Het
Atm G A 9: 53,395,547 (GRCm39) probably benign Het
Cep250 T C 2: 155,818,069 (GRCm39) V807A probably damaging Het
Ces1g T A 8: 94,033,587 (GRCm39) Y445F probably damaging Het
Cnksr3 A G 10: 7,070,512 (GRCm39) Y241H probably benign Het
Col9a1 T C 1: 24,224,225 (GRCm39) S136P unknown Het
Cux2 C A 5: 122,012,170 (GRCm39) G422W probably damaging Het
Cyp1a2 A T 9: 57,589,655 (GRCm39) M53K probably benign Het
Ddx20 T C 3: 105,593,986 (GRCm39) D123G probably damaging Het
Dock4 T A 12: 40,860,466 (GRCm39) L1284* probably null Het
Dpp9 A C 17: 56,518,666 (GRCm39) L46R probably benign Het
Elavl1 A T 8: 4,351,699 (GRCm39) V139E probably damaging Het
Fndc3b T C 3: 27,483,144 (GRCm39) Y1018C probably damaging Het
Fubp1 A G 3: 151,921,261 (GRCm39) N78D possibly damaging Het
Fubp3 C T 2: 31,501,755 (GRCm39) probably benign Het
Gbx2 C A 1: 89,856,559 (GRCm39) R277L probably damaging Het
Gm128 T C 3: 95,148,094 (GRCm39) R67G possibly damaging Het
Gpc2 T A 5: 138,273,792 (GRCm39) R469W probably damaging Het
Ifi30 G A 8: 71,217,407 (GRCm39) probably benign Het
Kbtbd4 T C 2: 90,736,252 (GRCm39) S88P probably damaging Het
Kif23 A T 9: 61,842,750 (GRCm39) Y216N probably damaging Het
Lgals4 A G 7: 28,540,973 (GRCm39) D299G probably damaging Het
Lmx1b A G 2: 33,459,071 (GRCm39) S161P probably benign Het
Lrcol1 T A 5: 110,502,444 (GRCm39) S107T probably benign Het
Lrrc28 A T 7: 67,195,223 (GRCm39) probably null Het
Ncoa4 T C 14: 31,894,884 (GRCm39) V42A probably benign Het
Nkd2 C T 13: 73,969,599 (GRCm39) S277N probably benign Het
Nlrp2 A T 7: 5,340,769 (GRCm39) L15Q probably damaging Het
Nynrin T G 14: 56,107,968 (GRCm39) L1025R probably damaging Het
Or12d12 C T 17: 37,610,629 (GRCm39) R228H probably benign Het
Or5w1 G T 2: 87,486,757 (GRCm39) C169* probably null Het
Piwil4 A T 9: 14,645,783 (GRCm39) F152I probably damaging Het
Plod3 T C 5: 137,025,002 (GRCm39) S705P probably benign Het
Ppp2r2c T A 5: 37,026,166 (GRCm39) M1K probably null Het
Rgs19 T C 2: 181,331,246 (GRCm39) E129G probably damaging Het
Rpap2 T A 5: 107,768,061 (GRCm39) S223T probably damaging Het
Shox2 T C 3: 66,881,104 (GRCm39) probably benign Het
Slc30a4 T C 2: 122,527,137 (GRCm39) I370V probably benign Het
Slco1b2 A G 6: 141,609,398 (GRCm39) I269M possibly damaging Het
Slco1c1 A G 6: 141,485,793 (GRCm39) Y142C probably damaging Het
Slco3a1 T C 7: 73,934,198 (GRCm39) N658S probably benign Het
Sos1 A T 17: 80,741,329 (GRCm39) S485R probably benign Het
Srpk1 A G 17: 28,825,291 (GRCm39) L127P probably damaging Het
St3gal6 T A 16: 58,314,033 (GRCm39) probably benign Het
Stk4 T A 2: 163,916,134 (GRCm39) M1K probably null Het
Tbc1d12 A G 19: 38,871,176 (GRCm39) E313G probably benign Het
Tbk1 A G 10: 121,393,134 (GRCm39) I472T probably benign Het
Tiam1 G A 16: 89,586,168 (GRCm39) R849W probably damaging Het
Tle3 A G 9: 61,317,307 (GRCm39) T381A probably benign Het
Tmem82 T G 4: 141,341,954 (GRCm39) T337P probably benign Het
Tmprss15 T C 16: 78,868,149 (GRCm39) T220A probably benign Het
Ung A G 5: 114,275,369 (GRCm39) K242E possibly damaging Het
Vmn1r211 A T 13: 23,036,571 (GRCm39) M32K probably benign Het
Vps13d T G 4: 144,771,658 (GRCm39) D956A probably damaging Het
Wdr64 T A 1: 175,594,722 (GRCm39) probably null Het
Other mutations in Adcy5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Adcy5 APN 16 35,073,583 (GRCm39) missense possibly damaging 0.49
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
R7718:Adcy5 UTSW 16 35,100,785 (GRCm39) missense probably benign 0.42
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
Posted On 2013-12-09