Incidental Mutation 'IGL02097:Adcy5'
ID279643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adcy5
Ensembl Gene ENSMUSG00000022840
Gene Nameadenylate cyclase 5
SynonymsAC5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.198) question?
Stock #IGL02097
Quality Score
Status
Chromosome16
Chromosomal Location35154877-35305738 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 35272098 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 610 (A610T)
Ref Sequence ENSEMBL: ENSMUSP00000110563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114913]
Predicted Effect probably damaging
Transcript: ENSMUST00000114913
AA Change: A610T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: A610T

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A T 5: 104,961,186 V415D possibly damaging Het
Adcy3 C T 12: 4,212,118 A1056V probably damaging Het
Arhgap21 G A 2: 20,880,002 T788I probably benign Het
Asic1 T C 15: 99,694,686 probably benign Het
Cdhr4 T A 9: 107,993,000 M68K probably benign Het
Cdhr5 G T 7: 141,269,981 T637K probably damaging Het
Corin A T 5: 72,372,146 C289S probably damaging Het
Cpne4 T C 9: 104,686,502 V26A probably damaging Het
Csmd1 T C 8: 16,211,759 D908G probably null Het
Cyp2c29 A G 19: 39,307,620 D126G probably damaging Het
Ddx42 G A 11: 106,239,160 S426N probably benign Het
Dnah1 C T 14: 31,305,001 V689M possibly damaging Het
Dtwd1 A G 2: 126,164,795 T246A probably damaging Het
Fbn1 A T 2: 125,363,969 M1036K probably damaging Het
Fbxo10 T C 4: 45,048,527 N536S probably benign Het
Gnal G A 18: 67,217,208 probably benign Het
Gns A G 10: 121,390,693 T416A probably benign Het
Heatr5b G A 17: 78,817,514 T603I probably damaging Het
Hsp90b1 T A 10: 86,691,684 probably benign Het
Krt23 C T 11: 99,493,010 G19R probably benign Het
Lama2 C T 10: 27,138,960 R1584H probably benign Het
Lmbr1l C T 15: 98,917,891 V11M probably damaging Het
Man1a2 T C 3: 100,582,131 K511E possibly damaging Het
Mrgpra3 C A 7: 47,589,456 V241F possibly damaging Het
Myh3 A G 11: 67,082,924 D141G probably benign Het
Mylk2 G A 2: 152,915,136 C277Y probably damaging Het
Myo3b A T 2: 70,238,829 T471S probably damaging Het
Naip1 A G 13: 100,425,588 V1023A probably benign Het
Olfm5 T A 7: 104,154,231 T342S probably benign Het
Olfr1510 A G 14: 52,410,054 F273L probably benign Het
Olfr38 T A 6: 42,762,460 M136K probably damaging Het
Pglyrp4 T C 3: 90,735,603 F263L probably benign Het
Plekhh2 A T 17: 84,599,180 T1148S possibly damaging Het
Prrc2b T C 2: 32,191,501 probably benign Het
Rbm28 G T 6: 29,138,618 D398E possibly damaging Het
Rnf220 A G 4: 117,273,327 F234L probably benign Het
Sele T C 1: 164,053,093 S415P probably benign Het
Shpk T C 11: 73,203,995 L79P probably damaging Het
Slc35f4 C T 14: 49,306,246 A148T probably damaging Het
Slc6a20a G A 9: 123,660,619 P120S possibly damaging Het
Slc8a2 A G 7: 16,157,156 E701G possibly damaging Het
Slco1a1 T A 6: 141,940,039 I87F possibly damaging Het
Srebf1 T G 11: 60,202,824 D739A probably damaging Het
Thg1l A G 11: 45,950,228 Y175H probably benign Het
Traf3ip2 G A 10: 39,654,479 V540M probably damaging Het
Wdr48 A G 9: 119,924,263 D644G probably damaging Het
Zbtb1 A T 12: 76,386,597 K452N probably damaging Het
Zfhx2 C T 14: 55,062,894 G2467R probably damaging Het
Zfp334 A T 2: 165,381,723 Y133* probably null Het
Other mutations in Adcy5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Adcy5 APN 16 35253213 missense possibly damaging 0.49
IGL01583:Adcy5 APN 16 35283513 splice site probably benign
IGL01608:Adcy5 APN 16 35272165 missense probably damaging 1.00
IGL02122:Adcy5 APN 16 35283612 splice site probably benign
IGL02532:Adcy5 APN 16 35272083 missense possibly damaging 0.79
IGL02814:Adcy5 APN 16 35303649 missense probably benign 0.08
IGL02877:Adcy5 APN 16 35298600 missense probably damaging 1.00
IGL03026:Adcy5 APN 16 35157042 missense probably benign 0.41
IGL03345:Adcy5 APN 16 35248814 missense probably benign 0.05
H8562:Adcy5 UTSW 16 35267181 missense probably damaging 1.00
H8786:Adcy5 UTSW 16 35267181 missense probably damaging 1.00
R0050:Adcy5 UTSW 16 35304303 utr 3 prime probably benign
R0091:Adcy5 UTSW 16 35270998 critical splice donor site probably null
R0112:Adcy5 UTSW 16 35156178 missense possibly damaging 0.85
R0398:Adcy5 UTSW 16 35269068 missense probably damaging 1.00
R0457:Adcy5 UTSW 16 35274545 missense probably benign 0.07
R0554:Adcy5 UTSW 16 35294017 missense probably benign 0.26
R0698:Adcy5 UTSW 16 35290082 missense possibly damaging 0.78
R0761:Adcy5 UTSW 16 35270825 splice site probably benign
R0865:Adcy5 UTSW 16 35274471 missense probably damaging 0.96
R0927:Adcy5 UTSW 16 35156243 missense probably benign 0.32
R0945:Adcy5 UTSW 16 35290111 missense probably benign
R1534:Adcy5 UTSW 16 35253259 missense possibly damaging 0.92
R1565:Adcy5 UTSW 16 35268957 missense probably damaging 1.00
R1721:Adcy5 UTSW 16 35298424 missense probably damaging 1.00
R1839:Adcy5 UTSW 16 35248940 missense probably damaging 1.00
R2047:Adcy5 UTSW 16 35290108 missense possibly damaging 0.78
R3052:Adcy5 UTSW 16 35303716 missense probably damaging 1.00
R3053:Adcy5 UTSW 16 35303716 missense probably damaging 1.00
R3827:Adcy5 UTSW 16 35290097 missense probably benign 0.03
R4398:Adcy5 UTSW 16 35268993 missense probably damaging 1.00
R4700:Adcy5 UTSW 16 35279216 missense possibly damaging 0.49
R4965:Adcy5 UTSW 16 35278502 missense possibly damaging 0.82
R5229:Adcy5 UTSW 16 35269070 missense probably damaging 0.99
R5456:Adcy5 UTSW 16 35298522 missense probably damaging 1.00
R5586:Adcy5 UTSW 16 35157116 missense probably damaging 0.99
R5757:Adcy5 UTSW 16 35272081 missense probably damaging 1.00
R5959:Adcy5 UTSW 16 35298410 missense probably damaging 1.00
R6011:Adcy5 UTSW 16 35157228 missense probably benign 0.05
R6277:Adcy5 UTSW 16 35289526 missense probably benign 0.02
R6296:Adcy5 UTSW 16 35303710 missense probably damaging 1.00
R6379:Adcy5 UTSW 16 35293999 missense probably benign 0.13
R6431:Adcy5 UTSW 16 35279237 missense probably damaging 1.00
R6685:Adcy5 UTSW 16 35279216 missense possibly damaging 0.49
R6728:Adcy5 UTSW 16 35157165 missense possibly damaging 0.88
R6755:Adcy5 UTSW 16 35303634 missense possibly damaging 0.95
R6887:Adcy5 UTSW 16 35298590 missense possibly damaging 0.74
R7029:Adcy5 UTSW 16 35299648 missense probably null 0.91
R7047:Adcy5 UTSW 16 35267215 missense probably damaging 1.00
R7050:Adcy5 UTSW 16 35303700 missense possibly damaging 0.88
R7102:Adcy5 UTSW 16 35299625 missense probably damaging 1.00
R7150:Adcy5 UTSW 16 35298534 missense probably damaging 1.00
R7242:Adcy5 UTSW 16 35156835 missense probably damaging 1.00
R7387:Adcy5 UTSW 16 35272090 missense probably damaging 1.00
V7732:Adcy5 UTSW 16 35283541 missense probably benign 0.00
X0022:Adcy5 UTSW 16 35299456 missense probably damaging 0.99
Posted On2015-04-16