Incidental Mutation 'R6277:Adcy5'
ID 507747
Institutional Source Beutler Lab
Gene Symbol Adcy5
Ensembl Gene ENSMUSG00000022840
Gene Name adenylate cyclase 5
Synonyms AC5
MMRRC Submission 044447-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R6277 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 34975247-35126108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35109896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 823 (T823A)
Ref Sequence ENSEMBL: ENSMUSP00000110563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114913]
AlphaFold P84309
Predicted Effect probably benign
Transcript: ENSMUST00000114913
AA Change: T823A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: T823A

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
Meta Mutation Damage Score 0.0603 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.2%
Validation Efficiency 96% (70/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,651 (GRCm39) Y105H possibly damaging Het
4921539E11Rik A T 4: 103,088,668 (GRCm39) Y179* probably null Het
Abca7 G C 10: 79,841,992 (GRCm39) V1042L probably benign Het
Adck5 C A 15: 76,477,463 (GRCm39) T99K possibly damaging Het
Adra1d G T 2: 131,403,083 (GRCm39) R336S probably damaging Het
Arhgap39 A T 15: 76,619,337 (GRCm39) M749K probably damaging Het
Arid4a A G 12: 71,086,665 (GRCm39) R168G possibly damaging Het
Atxn10 A G 15: 85,275,893 (GRCm39) T317A probably benign Het
Bicc1 T C 10: 70,863,731 (GRCm39) K22E possibly damaging Het
Cacna1b T G 2: 24,620,808 (GRCm39) T281P probably damaging Het
Ccdc174 A T 6: 91,857,272 (GRCm39) Q26L probably damaging Het
Celf3 T C 3: 94,392,672 (GRCm39) C124R probably damaging Het
Cfap44 A G 16: 44,257,669 (GRCm39) E1068G probably benign Het
Crybg1 T A 10: 43,873,255 (GRCm39) E1284D probably benign Het
Dcbld2 T A 16: 58,272,119 (GRCm39) Y392N probably damaging Het
Dcbld2 C T 16: 58,285,866 (GRCm39) P675L probably damaging Het
Dnah12 A T 14: 26,492,439 (GRCm39) H1193L probably damaging Het
Efcab3 G C 11: 104,901,148 (GRCm39) E4422D possibly damaging Het
Ern2 A G 7: 121,785,330 (GRCm39) F16L probably benign Het
Fam163b G T 2: 27,002,763 (GRCm39) T78N probably benign Het
Fbxw21 A T 9: 108,974,623 (GRCm39) I299K possibly damaging Het
Foxg1 A G 12: 49,432,299 (GRCm39) N344S probably benign Het
Git2 A G 5: 114,871,308 (GRCm39) I202T probably damaging Het
Gm11595 G T 11: 99,663,510 (GRCm39) P57T unknown Het
Gm12258 G A 11: 58,745,113 (GRCm39) V15M probably damaging Het
Gm15056 C T 8: 21,390,914 (GRCm39) G40S probably damaging Het
Gnal C A 18: 67,346,143 (GRCm39) H274Q probably damaging Het
Hormad2 A T 11: 4,371,583 (GRCm39) probably null Het
Ighv7-2 A G 12: 113,876,087 (GRCm39) I6T probably benign Het
Irf9 A G 14: 55,845,109 (GRCm39) D323G probably benign Het
Klhl23 G T 2: 69,664,096 (GRCm39) D482Y probably damaging Het
Lama4 A G 10: 38,982,006 (GRCm39) N1745S probably damaging Het
Lct T A 1: 128,231,974 (GRCm39) Y625F probably benign Het
Lrrc26 T C 2: 25,180,116 (GRCm39) V39A probably benign Het
Mllt6 G A 11: 97,564,774 (GRCm39) A527T probably damaging Het
Mrgprb4 T A 7: 47,848,649 (GRCm39) D93V probably benign Het
Nlrp5 A G 7: 23,120,880 (GRCm39) D698G probably damaging Het
Or13p10 T A 4: 118,523,520 (GRCm39) S269T probably benign Het
Pacsin1 T A 17: 27,924,969 (GRCm39) probably null Het
Padi3 A T 4: 140,518,472 (GRCm39) probably null Het
Pcdha8 T C 18: 37,127,411 (GRCm39) I631T probably damaging Het
Pkn3 G A 2: 29,972,957 (GRCm39) G315D possibly damaging Het
Ppfibp1 T A 6: 146,907,422 (GRCm39) D228E probably benign Het
Prag1 G T 8: 36,613,745 (GRCm39) R1099L probably damaging Het
Pramel31 A G 4: 144,090,223 (GRCm39) E421G probably damaging Het
Prr36 A G 8: 4,264,746 (GRCm39) probably benign Het
Prrc2c A G 1: 162,541,883 (GRCm39) S369P probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Slc9c1 G A 16: 45,427,204 (GRCm39) probably benign Het
Slit1 G A 19: 41,588,948 (GRCm39) T1513I possibly damaging Het
Smcr8 C T 11: 60,669,635 (GRCm39) T261M probably benign Het
Spata17 G A 1: 186,926,151 (GRCm39) R60* probably null Het
Speer4f1 A G 5: 17,681,241 (GRCm39) R40G probably damaging Het
Spns3 A G 11: 72,420,466 (GRCm39) V340A possibly damaging Het
Srgap3 T C 6: 112,716,344 (GRCm39) I595V probably benign Het
Srms G A 2: 180,848,038 (GRCm39) A489V possibly damaging Het
St3gal4 T C 9: 34,964,558 (GRCm39) N169S probably damaging Het
Taar5 T A 10: 23,847,169 (GRCm39) V189E probably damaging Het
Tbc1d32 G A 10: 56,071,525 (GRCm39) P333L probably benign Het
Tet3 G T 6: 83,345,066 (GRCm39) Y1790* probably null Het
Ticrr T A 7: 79,344,444 (GRCm39) H1436Q probably benign Het
Top6bl G T 19: 4,677,250 (GRCm39) S466* probably null Het
Ubl7 C T 9: 57,830,555 (GRCm39) L334F possibly damaging Het
Unc13a A G 8: 72,119,283 (GRCm39) probably null Het
Unc13c T C 9: 73,606,451 (GRCm39) D1303G probably damaging Het
Vmn2r114 A G 17: 23,509,954 (GRCm39) L842P possibly damaging Het
Vps35 G T 8: 85,987,857 (GRCm39) Q765K possibly damaging Het
Zfp87 G T 13: 74,520,643 (GRCm39) S145* probably null Het
Zgrf1 C T 3: 127,392,461 (GRCm39) A1327V possibly damaging Het
Zkscan6 T A 11: 65,718,983 (GRCm39) S334R probably benign 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
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'- TATTGACAGTCTCCCCTGGC -3'
(R):5'- CTTCCAGGGAGATGCTCATTAG -3'

Sequencing Primer
(F):5'- AATGCTGAGGCTCTGACGATC -3'
(R):5'- GAAGCACTGAGAGGCTAT -3'
Posted On 2018-03-15