Incidental Mutation 'R6887:Adcy5'
ID 537014
Institutional Source Beutler Lab
Gene Symbol Adcy5
Ensembl Gene ENSMUSG00000022840
Gene Name adenylate cyclase 5
Synonyms AC5
MMRRC Submission 044981-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R6887 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 35154877-35305738 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35298590 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1104 (I1104V)
Ref Sequence ENSEMBL: ENSMUSP00000110563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114913]
AlphaFold P84309
Predicted Effect possibly damaging
Transcript: ENSMUST00000114913
AA Change: I1104V

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: I1104V

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: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (39/39)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G A 7: 79,092,483 (GRCm38) V543I probably damaging Het
Adgrl4 A T 3: 151,542,733 (GRCm38) I681F possibly damaging Het
Adgrv1 T A 13: 81,528,701 (GRCm38) M2004L probably benign Het
Anapc1 A G 2: 128,659,768 (GRCm38) S785P possibly damaging Het
Ap3d1 A T 10: 80,723,698 (GRCm38) I242N probably damaging Het
Arhgap5 T C 12: 52,519,144 (GRCm38) L966P probably benign Het
Atp8a1 T C 5: 67,738,451 (GRCm38) T547A probably benign Het
Cadps A G 14: 12,505,811 (GRCm38) F753S probably damaging Het
Cdc20b T C 13: 113,078,653 (GRCm38) S252P possibly damaging Het
Cep63 A G 9: 102,625,927 (GRCm38) probably benign Het
Chrna5 G T 9: 55,005,133 (GRCm38) V302L probably benign Het
Crtc2 A G 3: 90,261,071 (GRCm38) T374A probably damaging Het
Dmtf1 T G 5: 9,137,149 (GRCm38) D140A probably damaging Het
Exosc8 C T 3: 54,733,699 (GRCm38) V39M probably damaging Het
Fam135b A C 15: 71,463,315 (GRCm38) S677A probably damaging Het
Hif1an T C 19: 44,563,389 (GRCm38) Y93H probably damaging Het
Hrc T C 7: 45,335,664 (GRCm38) F80L probably benign Het
Jmjd1c A G 10: 67,189,820 (GRCm38) T139A possibly damaging Het
Kdr T G 5: 75,968,451 (GRCm38) R178S probably benign Het
Lrrc61 A C 6: 48,568,432 (GRCm38) N63T probably damaging Het
Mrc1 C T 2: 14,325,237 (GRCm38) A1219V possibly damaging Het
Neto1 T C 18: 86,498,635 (GRCm38) V359A probably benign Het
Ngly1 T C 14: 16,281,836 (GRCm38) I364T probably benign Het
Nisch C T 14: 31,185,344 (GRCm38) probably benign Het
Olfr1373 C A 11: 52,145,352 (GRCm38) M59I probably benign Het
Prrc2a T C 17: 35,155,675 (GRCm38) D1333G probably damaging Het
Raly G T 2: 154,861,910 (GRCm38) V134F probably damaging Het
Rbm6 T C 9: 107,852,231 (GRCm38) Y406C probably damaging Het
Robo4 G C 9: 37,402,067 (GRCm38) E6Q possibly damaging Het
Scnn1g C A 7: 121,760,444 (GRCm38) S383R probably benign Het
Sgtb T C 13: 104,111,151 (GRCm38) W13R probably benign Het
Slit3 T C 11: 35,544,806 (GRCm38) probably null Het
Tbc1d32 G A 10: 56,151,811 (GRCm38) Q732* probably null Het
Tek T A 4: 94,804,944 (GRCm38) C247S probably damaging Het
Tmf1 A T 6: 97,176,838 (GRCm38) D91E probably damaging Het
Usp39 A G 6: 72,333,157 (GRCm38) L326P probably damaging Het
Vmn2r7 A T 3: 64,690,827 (GRCm38) C770S probably damaging Het
Wdr31 C T 4: 62,457,565 (GRCm38) G58R probably benign Het
Zfyve26 A G 12: 79,266,449 (GRCm38) I54T probably damaging Het
Other mutations in Adcy5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Adcy5 APN 16 35,253,213 (GRCm38) missense possibly damaging 0.49
IGL01583:Adcy5 APN 16 35,283,513 (GRCm38) splice site probably benign
IGL01608:Adcy5 APN 16 35,272,165 (GRCm38) missense probably damaging 1.00
IGL02097:Adcy5 APN 16 35,272,098 (GRCm38) missense probably damaging 1.00
IGL02122:Adcy5 APN 16 35,283,612 (GRCm38) splice site probably benign
IGL02532:Adcy5 APN 16 35,272,083 (GRCm38) missense possibly damaging 0.79
IGL02814:Adcy5 APN 16 35,303,649 (GRCm38) missense probably benign 0.08
IGL02877:Adcy5 APN 16 35,298,600 (GRCm38) missense probably damaging 1.00
IGL03026:Adcy5 APN 16 35,157,042 (GRCm38) missense probably benign 0.41
IGL03345:Adcy5 APN 16 35,248,814 (GRCm38) missense probably benign 0.05
H8562:Adcy5 UTSW 16 35,267,181 (GRCm38) missense probably damaging 1.00
H8786:Adcy5 UTSW 16 35,267,181 (GRCm38) missense probably damaging 1.00
R0050:Adcy5 UTSW 16 35,304,303 (GRCm38) utr 3 prime probably benign
R0091:Adcy5 UTSW 16 35,270,998 (GRCm38) critical splice donor site probably null
R0112:Adcy5 UTSW 16 35,156,178 (GRCm38) missense possibly damaging 0.85
R0398:Adcy5 UTSW 16 35,269,068 (GRCm38) missense probably damaging 1.00
R0457:Adcy5 UTSW 16 35,274,545 (GRCm38) missense probably benign 0.07
R0554:Adcy5 UTSW 16 35,294,017 (GRCm38) missense probably benign 0.26
R0698:Adcy5 UTSW 16 35,290,082 (GRCm38) missense possibly damaging 0.78
R0761:Adcy5 UTSW 16 35,270,825 (GRCm38) splice site probably benign
R0865:Adcy5 UTSW 16 35,274,471 (GRCm38) missense probably damaging 0.96
R0927:Adcy5 UTSW 16 35,156,243 (GRCm38) missense probably benign 0.32
R0945:Adcy5 UTSW 16 35,290,111 (GRCm38) missense probably benign
R1534:Adcy5 UTSW 16 35,253,259 (GRCm38) missense possibly damaging 0.92
R1565:Adcy5 UTSW 16 35,268,957 (GRCm38) missense probably damaging 1.00
R1721:Adcy5 UTSW 16 35,298,424 (GRCm38) missense probably damaging 1.00
R1839:Adcy5 UTSW 16 35,248,940 (GRCm38) missense probably damaging 1.00
R2047:Adcy5 UTSW 16 35,290,108 (GRCm38) missense possibly damaging 0.78
R3052:Adcy5 UTSW 16 35,303,716 (GRCm38) missense probably damaging 1.00
R3053:Adcy5 UTSW 16 35,303,716 (GRCm38) missense probably damaging 1.00
R3827:Adcy5 UTSW 16 35,290,097 (GRCm38) missense probably benign 0.03
R4398:Adcy5 UTSW 16 35,268,993 (GRCm38) missense probably damaging 1.00
R4700:Adcy5 UTSW 16 35,279,216 (GRCm38) missense possibly damaging 0.49
R4965:Adcy5 UTSW 16 35,278,502 (GRCm38) missense possibly damaging 0.82
R5229:Adcy5 UTSW 16 35,269,070 (GRCm38) missense probably damaging 0.99
R5456:Adcy5 UTSW 16 35,298,522 (GRCm38) missense probably damaging 1.00
R5586:Adcy5 UTSW 16 35,157,116 (GRCm38) missense probably damaging 0.99
R5757:Adcy5 UTSW 16 35,272,081 (GRCm38) missense probably damaging 1.00
R5959:Adcy5 UTSW 16 35,298,410 (GRCm38) missense probably damaging 1.00
R6011:Adcy5 UTSW 16 35,157,228 (GRCm38) missense probably benign 0.05
R6277:Adcy5 UTSW 16 35,289,526 (GRCm38) missense probably benign 0.02
R6296:Adcy5 UTSW 16 35,303,710 (GRCm38) missense probably damaging 1.00
R6379:Adcy5 UTSW 16 35,293,999 (GRCm38) missense probably benign 0.13
R6431:Adcy5 UTSW 16 35,279,237 (GRCm38) missense probably damaging 1.00
R6685:Adcy5 UTSW 16 35,279,216 (GRCm38) missense possibly damaging 0.49
R6728:Adcy5 UTSW 16 35,157,165 (GRCm38) missense possibly damaging 0.88
R6755:Adcy5 UTSW 16 35,303,634 (GRCm38) missense possibly damaging 0.95
R7029:Adcy5 UTSW 16 35,299,648 (GRCm38) missense probably null 0.91
R7047:Adcy5 UTSW 16 35,267,215 (GRCm38) missense probably damaging 1.00
R7050:Adcy5 UTSW 16 35,303,700 (GRCm38) missense possibly damaging 0.88
R7102:Adcy5 UTSW 16 35,299,625 (GRCm38) missense probably damaging 1.00
R7150:Adcy5 UTSW 16 35,298,534 (GRCm38) missense probably damaging 1.00
R7242:Adcy5 UTSW 16 35,156,835 (GRCm38) missense probably damaging 1.00
R7387:Adcy5 UTSW 16 35,272,090 (GRCm38) missense probably damaging 1.00
R7654:Adcy5 UTSW 16 35,270,947 (GRCm38) missense probably damaging 1.00
R7718:Adcy5 UTSW 16 35,280,415 (GRCm38) missense probably benign 0.42
R7834:Adcy5 UTSW 16 35,157,200 (GRCm38) missense probably benign 0.03
R8172:Adcy5 UTSW 16 35,157,057 (GRCm38) missense probably damaging 0.96
R8772:Adcy5 UTSW 16 35,299,588 (GRCm38) missense probably damaging 1.00
R8983:Adcy5 UTSW 16 35,156,862 (GRCm38) missense possibly damaging 0.88
R9031:Adcy5 UTSW 16 35,299,489 (GRCm38) missense probably damaging 1.00
R9070:Adcy5 UTSW 16 35,280,400 (GRCm38) missense probably damaging 0.99
R9149:Adcy5 UTSW 16 35,272,111 (GRCm38) missense probably damaging 1.00
R9190:Adcy5 UTSW 16 35,268,994 (GRCm38) nonsense probably null
R9256:Adcy5 UTSW 16 35,303,682 (GRCm38) missense probably damaging 1.00
R9557:Adcy5 UTSW 16 35,270,957 (GRCm38) missense probably damaging 1.00
R9776:Adcy5 UTSW 16 35,280,355 (GRCm38) missense probably damaging 1.00
V7732:Adcy5 UTSW 16 35,283,541 (GRCm38) missense probably benign 0.00
X0022:Adcy5 UTSW 16 35,299,456 (GRCm38) missense probably damaging 0.99
Z1176:Adcy5 UTSW 16 35,291,544 (GRCm38) missense not run
Z1176:Adcy5 UTSW 16 35,290,185 (GRCm38) missense probably benign 0.03
Z1176:Adcy5 UTSW 16 35,156,321 (GRCm38) missense unknown
Z1177:Adcy5 UTSW 16 35,291,544 (GRCm38) missense not run
Predicted Primers PCR Primer
(F):5'- AACATTCTGCCCAAGGACG -3'
(R):5'- TCATGTTCAAAGAGCAGGCAG -3'

Sequencing Primer
(F):5'- TGCCCAAGGACGTGGCTG -3'
(R):5'- CATATCAGCACGGTGACCTTAGG -3'
Posted On 2018-10-18