Incidental Mutation 'IGL03180:Adcy8'
ID412174
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adcy8
Ensembl Gene ENSMUSG00000022376
Gene Nameadenylate cyclase 8
SynonymsAC8
Accession Numbers

Genbank: NM_009623; MGI: 1341110

Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #IGL03180
Quality Score
Status
Chromosome15
Chromosomal Location64697084-64922296 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64783950 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 560 (D560G)
Ref Sequence ENSEMBL: ENSMUSP00000023007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023007] [ENSMUST00000228014]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023007
AA Change: D560G

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: D560G

DomainStartEndE-ValueType
low complexity region 52 61 N/A INTRINSIC
low complexity region 111 123 N/A INTRINSIC
low complexity region 185 201 N/A INTRINSIC
low complexity region 255 271 N/A INTRINSIC
CYCc 363 565 3.16e-63 SMART
Pfam:DUF1053 615 710 1.3e-30 PFAM
transmembrane domain 741 759 N/A INTRINSIC
transmembrane domain 780 802 N/A INTRINSIC
transmembrane domain 833 852 N/A INTRINSIC
transmembrane domain 857 879 N/A INTRINSIC
low complexity region 900 911 N/A INTRINSIC
CYCc 940 1155 2.19e-48 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000228014
AA Change: D560G

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228109
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD). [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,175,635 Y321H probably benign Het
Adam28 T A 14: 68,637,434 I265L probably damaging Het
Aff3 A G 1: 38,535,662 M79T probably damaging Het
Ahctf1 A G 1: 179,775,330 probably null Het
Aspn C T 13: 49,563,515 R256W probably damaging Het
Birc6 T C 17: 74,659,231 V4051A probably benign Het
Cfap46 G A 7: 139,603,252 L2584F unknown Het
Chdh T A 14: 30,034,602 probably null Het
Clasp1 A G 1: 118,505,525 T245A probably benign Het
Clec4a1 G A 6: 122,924,818 V70I probably benign Het
Cpt2 A T 4: 107,906,960 S536T probably damaging Het
Dnah9 A T 11: 65,886,639 H3694Q probably damaging Het
Dntt T A 19: 41,029,551 F38Y probably benign Het
Eif4ebp2 T C 10: 61,433,810 E117G probably damaging Het
Eif5b T C 1: 38,036,269 I609T probably damaging Het
Esam G A 9: 37,534,570 G135S probably damaging Het
Fut7 C A 2: 25,425,453 A241D possibly damaging Het
Grin2d T A 7: 45,853,329 K706M probably damaging Het
Grip2 A G 6: 91,785,761 probably benign Het
Gtf2ird2 A G 5: 134,191,248 T22A probably damaging Het
Hadh T C 3: 131,271,884 I42V probably benign Het
Iqsec3 T A 6: 121,413,508 probably benign Het
Izumo3 G A 4: 92,146,287 probably benign Het
Ldlrad1 G T 4: 107,217,835 C193F probably damaging Het
Lgals4 G A 7: 28,837,628 G118R probably damaging Het
Map4k1 A C 7: 28,988,085 E136A probably damaging Het
Mapk8ip1 G T 2: 92,386,912 P346Q possibly damaging Het
Mkl2 A G 16: 13,398,332 K303E probably damaging Het
Nlrp14 T A 7: 107,182,626 H343Q probably benign Het
Ogg1 T G 6: 113,333,494 probably null Het
Olfr1023 A T 2: 85,887,396 M199L probably benign Het
Olfr361 C T 2: 37,085,710 V13M possibly damaging Het
Pafah1b1 A T 11: 74,683,518 C281S possibly damaging Het
Papss1 C T 3: 131,607,382 R386W probably damaging Het
Pex5 A G 6: 124,413,563 probably benign Het
Pibf1 C A 14: 99,133,344 Q261K probably benign Het
Plcb3 T C 19: 6,956,153 S935G probably benign Het
Polg A G 7: 79,451,853 probably benign Het
Ptpdc1 G A 13: 48,586,077 T626I probably damaging Het
Rab34 A T 11: 78,190,318 Y87F probably damaging Het
Rsrc1 T G 3: 67,082,543 probably benign Het
Ryr2 T C 13: 11,568,563 N4735S possibly damaging Het
Scn7a T C 2: 66,676,234 D1437G possibly damaging Het
Sdk1 A G 5: 142,085,742 E1229G probably damaging Het
Sez6l A T 5: 112,436,285 V806D probably damaging Het
Sgsm2 A C 11: 74,868,575 probably null Het
Sla A G 15: 66,789,720 I121T probably benign Het
Son T C 16: 91,657,008 L881S probably damaging Het
Srms A G 2: 181,212,780 probably benign Het
Stoml1 T C 9: 58,260,917 S304P probably damaging Het
Stt3a T C 9: 36,759,256 D73G probably damaging Het
Tmem206 G T 1: 191,338,892 V82F probably damaging Het
Tpp1 T C 7: 105,746,649 T558A probably benign Het
Trp53i13 T C 11: 77,512,702 probably benign Het
Vmn2r77 A G 7: 86,801,635 Y243C possibly damaging Het
Vwde T C 6: 13,205,765 D261G probably damaging Het
Wdr60 T C 12: 116,218,865 S706G probably benign Het
Zfpm2 A G 15: 41,101,394 K293R probably damaging Het
Other mutations in Adcy8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Adcy8 APN 15 64787367 missense probably damaging 1.00
IGL00690:Adcy8 APN 15 64699302 missense probably damaging 1.00
IGL00990:Adcy8 APN 15 64822313 missense probably benign 0.07
IGL01083:Adcy8 APN 15 64787342 missense probably benign 0.21
IGL01296:Adcy8 APN 15 64783779 missense probably damaging 0.98
IGL01433:Adcy8 APN 15 64737414 missense possibly damaging 0.63
IGL01584:Adcy8 APN 15 64815321 missense probably damaging 1.00
IGL01729:Adcy8 APN 15 64806662 missense probably damaging 1.00
IGL02023:Adcy8 APN 15 64822220 missense probably damaging 1.00
IGL02420:Adcy8 APN 15 64787454 missense probably damaging 1.00
IGL02613:Adcy8 APN 15 64783984 missense possibly damaging 0.82
IGL02662:Adcy8 APN 15 64746895 critical splice donor site probably null
IGL03327:Adcy8 APN 15 64920267 missense probably damaging 1.00
revolutionary UTSW 15 64699387 missense probably damaging 1.00
whirligig UTSW 15 64699285 missense probably damaging 1.00
F0336:Adcy8 UTSW 15 64822234 missense probably benign 0.38
K7894:Adcy8 UTSW 15 64822234 missense probably benign 0.38
PIT4581001:Adcy8 UTSW 15 64754817 missense probably damaging 1.00
R0035:Adcy8 UTSW 15 64699368 missense probably benign 0.29
R0119:Adcy8 UTSW 15 64716166 missense probably damaging 1.00
R0129:Adcy8 UTSW 15 64747013 missense probably benign 0.18
R0299:Adcy8 UTSW 15 64716166 missense probably damaging 1.00
R0573:Adcy8 UTSW 15 64822195 missense probably damaging 1.00
R0961:Adcy8 UTSW 15 64754862 missense possibly damaging 0.91
R1203:Adcy8 UTSW 15 64746931 missense probably damaging 1.00
R1239:Adcy8 UTSW 15 64716062 missense probably damaging 0.98
R1615:Adcy8 UTSW 15 64871776 missense probably benign 0.25
R1881:Adcy8 UTSW 15 64806654 missense probably damaging 0.96
R2013:Adcy8 UTSW 15 64767878 missense probably benign 0.00
R2014:Adcy8 UTSW 15 64767878 missense probably benign 0.00
R2015:Adcy8 UTSW 15 64767878 missense probably benign 0.00
R2164:Adcy8 UTSW 15 64920934 missense probably benign
R2228:Adcy8 UTSW 15 64822207 missense possibly damaging 0.58
R2229:Adcy8 UTSW 15 64822207 missense possibly damaging 0.58
R2241:Adcy8 UTSW 15 64699381 missense possibly damaging 0.78
R3177:Adcy8 UTSW 15 64699159 missense probably benign 0.10
R3277:Adcy8 UTSW 15 64699159 missense probably benign 0.10
R3404:Adcy8 UTSW 15 64699600 missense probably damaging 1.00
R3688:Adcy8 UTSW 15 64871707 missense probably damaging 0.99
R3709:Adcy8 UTSW 15 64725535 splice site probably benign
R3710:Adcy8 UTSW 15 64725535 splice site probably benign
R3778:Adcy8 UTSW 15 64746997 missense probably damaging 1.00
R4037:Adcy8 UTSW 15 64725470 missense probably benign 0.06
R4685:Adcy8 UTSW 15 64737438 missense probably benign 0.09
R4731:Adcy8 UTSW 15 64754862 missense possibly damaging 0.91
R4732:Adcy8 UTSW 15 64754862 missense possibly damaging 0.91
R4733:Adcy8 UTSW 15 64754862 missense possibly damaging 0.91
R5071:Adcy8 UTSW 15 64787358 missense probably damaging 1.00
R5073:Adcy8 UTSW 15 64787358 missense probably damaging 1.00
R5074:Adcy8 UTSW 15 64787358 missense probably damaging 1.00
R5091:Adcy8 UTSW 15 64806704 missense probably damaging 1.00
R5285:Adcy8 UTSW 15 64767857 missense possibly damaging 0.68
R5287:Adcy8 UTSW 15 64716152 missense probably benign 0.04
R5403:Adcy8 UTSW 15 64716152 missense probably benign 0.04
R5521:Adcy8 UTSW 15 64815350 missense probably damaging 1.00
R5633:Adcy8 UTSW 15 64699285 missense probably damaging 1.00
R5712:Adcy8 UTSW 15 64754866 missense probably damaging 1.00
R5745:Adcy8 UTSW 15 64920471 missense possibly damaging 0.91
R5787:Adcy8 UTSW 15 64704218 missense probably damaging 0.98
R5839:Adcy8 UTSW 15 64716182 missense probably damaging 1.00
R5890:Adcy8 UTSW 15 64815417 missense probably damaging 1.00
R6156:Adcy8 UTSW 15 64817639 unclassified probably null
R6338:Adcy8 UTSW 15 64920617 missense possibly damaging 0.94
R6516:Adcy8 UTSW 15 64699387 missense probably damaging 1.00
R6525:Adcy8 UTSW 15 64737394 nonsense probably null
R6636:Adcy8 UTSW 15 64787402 missense probably damaging 1.00
R6823:Adcy8 UTSW 15 64754886 critical splice acceptor site probably null
R7007:Adcy8 UTSW 15 64704716 missense possibly damaging 0.88
R7070:Adcy8 UTSW 15 64920555 missense probably damaging 1.00
R7092:Adcy8 UTSW 15 64871770 missense possibly damaging 0.93
R7371:Adcy8 UTSW 15 64699218 missense probably benign 0.19
R7457:Adcy8 UTSW 15 64920680 missense possibly damaging 0.79
R7611:Adcy8 UTSW 15 64921033 missense probably benign
R7644:Adcy8 UTSW 15 64699369 missense possibly damaging 0.77
R7697:Adcy8 UTSW 15 64747001 missense probably benign
Posted On2016-08-02