Incidental Mutation 'R0761:Adcy5'
ID 70107
Institutional Source Beutler Lab
Gene Symbol Adcy5
Ensembl Gene ENSMUSG00000022840
Gene Name adenylate cyclase 5
Synonyms AC5
MMRRC Submission 038941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R0761 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 34975247-35126108 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 35091195 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: ENSMUST00000232470
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,833 (GRCm39) Y133C probably benign Het
Asb17 A G 3: 153,550,052 (GRCm39) K28R probably damaging Het
Bbs10 G T 10: 111,135,244 (GRCm39) C119F probably damaging Het
Camk2g G A 14: 20,816,280 (GRCm39) Q119* probably null Het
Cdh18 A T 15: 23,226,838 (GRCm39) I46L possibly damaging Het
Cimip2a T C 2: 25,110,135 (GRCm39) probably benign Het
Clmn T A 12: 104,747,817 (GRCm39) N577Y probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crocc T C 4: 140,774,387 (GRCm39) E63G probably benign Het
Crocc T C 4: 140,757,087 (GRCm39) T965A probably benign Het
Cryzl2 A G 1: 157,293,294 (GRCm39) I132V probably benign Het
Csgalnact2 T C 6: 118,103,073 (GRCm39) probably benign Het
Ctr9 T C 7: 110,645,479 (GRCm39) S569P probably damaging Het
Cul3 A G 1: 80,255,203 (GRCm39) probably benign Het
Dcp2 G A 18: 44,543,300 (GRCm39) S286N probably benign Het
Dgkz C T 2: 91,775,696 (GRCm39) R189H probably benign Het
Dst A G 1: 34,221,848 (GRCm39) T2551A probably benign Het
Kcna4 T A 2: 107,126,417 (GRCm39) S384T probably benign Het
Klhl17 T C 4: 156,317,204 (GRCm39) probably null Het
Kmt2e C A 5: 23,708,032 (GRCm39) S1865* probably null Het
L3mbtl1 G A 2: 162,807,967 (GRCm39) R534H probably damaging Het
Lmnb2 A T 10: 80,742,088 (GRCm39) M1K probably null Het
Lrp1b T C 2: 41,075,947 (GRCm39) D1784G probably damaging Het
Lrrc34 A G 3: 30,685,425 (GRCm39) probably null Het
Megf10 C A 18: 57,421,048 (GRCm39) Y895* probably null Het
Mesd G T 7: 83,544,951 (GRCm39) A143S probably damaging Het
Mfap3l G T 8: 61,124,615 (GRCm39) V286L possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Nek1 T A 8: 61,542,489 (GRCm39) D717E probably benign Het
Nudt12 A T 17: 59,318,064 (GRCm39) D60E probably benign Het
Nup205 C T 6: 35,173,363 (GRCm39) probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2j3 A T 17: 38,616,282 (GRCm39) H23Q probably benign Het
Or4a75 T C 2: 89,448,179 (GRCm39) D119G probably damaging Het
Or5w19 C T 2: 87,698,880 (GRCm39) P182S possibly damaging Het
Pacs2 T A 12: 113,023,688 (GRCm39) probably benign Het
Pcdha9 T A 18: 37,133,016 (GRCm39) L695* probably null Het
Pira12 A T 7: 3,896,978 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,804,375 (GRCm39) S1739P probably damaging Het
Polr1e C A 4: 45,027,392 (GRCm39) D207E probably damaging Het
Polr3f T A 2: 144,376,327 (GRCm39) V142E probably damaging Het
Psma6 T A 12: 55,459,127 (GRCm39) W170R possibly damaging Het
Rev3l T C 10: 39,750,191 (GRCm39) Y3114H probably benign Het
Rps6ka5 C T 12: 100,537,141 (GRCm39) A530T probably damaging Het
Simc1 T C 13: 54,674,387 (GRCm39) Y912H probably damaging Het
Tnfrsf1b T C 4: 144,942,670 (GRCm39) D371G possibly damaging Het
Trank1 T C 9: 111,195,681 (GRCm39) V1235A probably damaging Het
Ttn T C 2: 76,577,102 (GRCm39) E24597G probably damaging Het
Ubr2 G A 17: 47,294,242 (GRCm39) P297L probably damaging Het
Unc5d A T 8: 29,186,560 (GRCm39) probably null Het
Xpo4 A G 14: 57,850,840 (GRCm39) F355L probably 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
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
Predicted Primers PCR Primer
(F):5'- TTTTAGTGTGCAGCACCTCGCC -3'
(R):5'- AATGCCATCTGCTCCAGTGTGTC -3'

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