Incidental Mutation 'R7070:Adcy8'
ID 548857
Institutional Source Beutler Lab
Gene Symbol Adcy8
Ensembl Gene ENSMUSG00000022376
Gene Name adenylate cyclase 8
Synonyms AC8
MMRRC Submission 045166-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7070 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 64570884-64794145 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64792404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 184 (N184I)
Ref Sequence ENSEMBL: ENSMUSP00000023007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023007] [ENSMUST00000180105] [ENSMUST00000228014]
AlphaFold P97490
Predicted Effect probably damaging
Transcript: ENSMUST00000023007
AA Change: N184I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: N184I

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 probably benign
Transcript: ENSMUST00000180105
SMART Domains Protein: ENSMUSP00000136962
Gene: ENSMUSG00000094296

DomainStartEndE-ValueType
low complexity region 60 87 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000228014
AA Change: N184I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,930,232 (GRCm39) Y156H probably damaging Het
Abca13 T A 11: 9,240,701 (GRCm39) F855I probably benign Het
Abca2 T G 2: 25,333,007 (GRCm39) F1569V probably benign Het
Akap3 T C 6: 126,850,987 (GRCm39) V835A probably damaging Het
Atg5 T A 10: 44,162,150 (GRCm39) L22H probably damaging Het
Atp13a5 A G 16: 29,152,879 (GRCm39) F196L possibly damaging Het
C1qtnf9 A G 14: 61,017,232 (GRCm39) H254R probably damaging Het
Capza3 C T 6: 139,987,646 (GRCm39) R82C probably damaging Het
Ccdc126 A G 6: 49,316,796 (GRCm39) D92G probably damaging Het
Cdh12 T A 15: 21,583,915 (GRCm39) M585K probably benign Het
Chrnb3 A T 8: 27,883,989 (GRCm39) Y242F probably damaging Het
Cngb3 T C 4: 19,425,593 (GRCm39) V467A possibly damaging Het
Cnot8 A G 11: 58,008,278 (GRCm39) D248G probably benign Het
Cntn1 C T 15: 92,151,917 (GRCm39) T452M probably damaging Het
Cygb C A 11: 116,544,851 (GRCm39) probably benign Het
D930020B18Rik G A 10: 121,477,879 (GRCm39) V35M probably damaging Het
Dcaf17 C T 2: 70,918,857 (GRCm39) T477M probably benign Het
Dpp3 A T 19: 4,968,356 (GRCm39) F239I probably benign Het
Dst T A 1: 34,314,383 (GRCm39) V6442E probably damaging Het
Enpp2 T A 15: 54,762,685 (GRCm39) I188F probably damaging Het
Galnt5 A G 2: 57,888,621 (GRCm39) M74V probably benign Het
Grin2a T C 16: 9,397,288 (GRCm39) D933G possibly damaging Het
Gtf2i T A 5: 134,311,657 (GRCm39) E223D probably damaging Het
H2-M5 C A 17: 37,300,051 (GRCm39) G41V possibly damaging Het
Hars2 C T 18: 36,924,165 (GRCm39) R501* probably null Het
Heatr4 A G 12: 84,016,632 (GRCm39) V545A probably benign Het
Hsd3b3 T A 3: 98,649,787 (GRCm39) T179S possibly damaging Het
Ighv5-6 A G 12: 113,589,429 (GRCm39) V17A probably damaging Het
Jak3 A G 8: 72,137,255 (GRCm39) D772G probably damaging Het
Jakmip2 A T 18: 43,690,393 (GRCm39) probably null Het
Kcnj15 C G 16: 95,096,690 (GRCm39) T104S probably damaging Het
Kndc1 A G 7: 139,501,744 (GRCm39) E927G probably damaging Het
Larp1b G T 3: 40,931,086 (GRCm39) G275C probably damaging Het
Lyst C A 13: 13,932,029 (GRCm39) H3552Q probably benign Het
Mast2 A T 4: 116,168,052 (GRCm39) I960N probably benign Het
Mcee G A 7: 64,050,078 (GRCm39) V70I possibly damaging Het
Muc16 G A 9: 18,557,219 (GRCm39) Q3025* probably null Het
Nrg1 T A 8: 32,339,465 (GRCm39) T45S probably damaging Het
Nutm1 T A 2: 112,079,806 (GRCm39) H703L probably benign Het
Or5m10 G A 2: 85,718,034 (GRCm39) V297I probably benign Het
Or7a38 A T 10: 78,753,102 (GRCm39) I143L probably benign Het
Pbx1 A C 1: 168,023,337 (GRCm39) C273G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Phf1 A G 17: 27,153,307 (GRCm39) T42A possibly damaging Het
Pigm T A 1: 172,205,233 (GRCm39) I323N probably damaging Het
Plcg2 G A 8: 118,323,045 (GRCm39) R700H probably benign Het
Ptx4 G A 17: 25,341,971 (GRCm39) A149T probably benign Het
Rab6a A G 7: 100,279,064 (GRCm39) D68G probably damaging Het
Rcan3 C T 4: 135,143,898 (GRCm39) E185K probably damaging Het
Rnf14 A G 18: 38,434,781 (GRCm39) N76S possibly damaging Het
Rpf1 A T 3: 146,217,939 (GRCm39) F192I probably damaging Het
Rps6ka1 T C 4: 133,588,759 (GRCm39) T285A probably benign Het
Rrp8 T C 7: 105,384,083 (GRCm39) K94E possibly damaging Het
Rsbn1 A G 3: 103,836,299 (GRCm39) K122E probably damaging Het
Senp1 T C 15: 97,980,187 (GRCm39) T53A possibly damaging Het
Slc23a1 T G 18: 35,754,834 (GRCm39) D519A probably damaging Het
Slfn14 T G 11: 83,167,531 (GRCm39) R661S probably benign Het
Snta1 T C 2: 154,222,979 (GRCm39) E248G probably benign Het
Son CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG 16: 91,453,729 (GRCm39) probably benign Het
Spmap2l G T 5: 77,195,124 (GRCm39) probably null Het
Stk11ip C T 1: 75,504,259 (GRCm39) H297Y probably benign Het
Synpr T A 14: 13,493,628 (GRCm38) F76I probably damaging Het
Tns2 A G 15: 102,012,968 (GRCm39) R27G possibly damaging Het
Trav5-4 C T 14: 53,941,912 (GRCm39) S95F possibly damaging Het
Ttyh1 T C 7: 4,136,363 (GRCm39) Y330H probably damaging Het
Ugt1a2 T A 1: 88,129,224 (GRCm39) probably null Het
Vmn2r69 T C 7: 85,060,688 (GRCm39) I299V probably damaging Het
Vmn2r90 T A 17: 17,924,313 (GRCm39) D37E probably damaging Het
Other mutations in Adcy8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Adcy8 APN 15 64,659,216 (GRCm39) missense probably damaging 1.00
IGL00690:Adcy8 APN 15 64,571,151 (GRCm39) missense probably damaging 1.00
IGL00990:Adcy8 APN 15 64,694,162 (GRCm39) missense probably benign 0.07
IGL01083:Adcy8 APN 15 64,659,191 (GRCm39) missense probably benign 0.21
IGL01296:Adcy8 APN 15 64,655,628 (GRCm39) missense probably damaging 0.98
IGL01433:Adcy8 APN 15 64,609,263 (GRCm39) missense possibly damaging 0.63
IGL01584:Adcy8 APN 15 64,687,170 (GRCm39) missense probably damaging 1.00
IGL01729:Adcy8 APN 15 64,678,511 (GRCm39) missense probably damaging 1.00
IGL02023:Adcy8 APN 15 64,694,069 (GRCm39) missense probably damaging 1.00
IGL02420:Adcy8 APN 15 64,659,303 (GRCm39) missense probably damaging 1.00
IGL02613:Adcy8 APN 15 64,655,833 (GRCm39) missense possibly damaging 0.82
IGL02662:Adcy8 APN 15 64,618,744 (GRCm39) critical splice donor site probably null
IGL03180:Adcy8 APN 15 64,655,799 (GRCm39) missense possibly damaging 0.77
IGL03327:Adcy8 APN 15 64,792,116 (GRCm39) missense probably damaging 1.00
revolutionary UTSW 15 64,571,236 (GRCm39) missense probably damaging 1.00
whirligig UTSW 15 64,571,134 (GRCm39) missense probably damaging 1.00
F0336:Adcy8 UTSW 15 64,694,083 (GRCm39) missense probably benign 0.38
K7894:Adcy8 UTSW 15 64,694,083 (GRCm39) missense probably benign 0.38
PIT4581001:Adcy8 UTSW 15 64,626,666 (GRCm39) missense probably damaging 1.00
R0035:Adcy8 UTSW 15 64,571,217 (GRCm39) missense probably benign 0.29
R0119:Adcy8 UTSW 15 64,588,015 (GRCm39) missense probably damaging 1.00
R0129:Adcy8 UTSW 15 64,618,862 (GRCm39) missense probably benign 0.18
R0299:Adcy8 UTSW 15 64,588,015 (GRCm39) missense probably damaging 1.00
R0573:Adcy8 UTSW 15 64,694,044 (GRCm39) missense probably damaging 1.00
R0961:Adcy8 UTSW 15 64,626,711 (GRCm39) missense possibly damaging 0.91
R1203:Adcy8 UTSW 15 64,618,780 (GRCm39) missense probably damaging 1.00
R1239:Adcy8 UTSW 15 64,587,911 (GRCm39) missense probably damaging 0.98
R1615:Adcy8 UTSW 15 64,743,625 (GRCm39) missense probably benign 0.25
R1881:Adcy8 UTSW 15 64,678,503 (GRCm39) missense probably damaging 0.96
R2013:Adcy8 UTSW 15 64,639,727 (GRCm39) missense probably benign 0.00
R2014:Adcy8 UTSW 15 64,639,727 (GRCm39) missense probably benign 0.00
R2015:Adcy8 UTSW 15 64,639,727 (GRCm39) missense probably benign 0.00
R2164:Adcy8 UTSW 15 64,792,783 (GRCm39) missense probably benign
R2228:Adcy8 UTSW 15 64,694,056 (GRCm39) missense possibly damaging 0.58
R2229:Adcy8 UTSW 15 64,694,056 (GRCm39) missense possibly damaging 0.58
R2241:Adcy8 UTSW 15 64,571,230 (GRCm39) missense possibly damaging 0.78
R3177:Adcy8 UTSW 15 64,571,008 (GRCm39) missense probably benign 0.10
R3277:Adcy8 UTSW 15 64,571,008 (GRCm39) missense probably benign 0.10
R3404:Adcy8 UTSW 15 64,571,449 (GRCm39) missense probably damaging 1.00
R3688:Adcy8 UTSW 15 64,743,556 (GRCm39) missense probably damaging 0.99
R3709:Adcy8 UTSW 15 64,597,384 (GRCm39) splice site probably benign
R3710:Adcy8 UTSW 15 64,597,384 (GRCm39) splice site probably benign
R3778:Adcy8 UTSW 15 64,618,846 (GRCm39) missense probably damaging 1.00
R4037:Adcy8 UTSW 15 64,597,319 (GRCm39) missense probably benign 0.06
R4685:Adcy8 UTSW 15 64,609,287 (GRCm39) missense probably benign 0.09
R4731:Adcy8 UTSW 15 64,626,711 (GRCm39) missense possibly damaging 0.91
R4732:Adcy8 UTSW 15 64,626,711 (GRCm39) missense possibly damaging 0.91
R4733:Adcy8 UTSW 15 64,626,711 (GRCm39) missense possibly damaging 0.91
R5071:Adcy8 UTSW 15 64,659,207 (GRCm39) missense probably damaging 1.00
R5073:Adcy8 UTSW 15 64,659,207 (GRCm39) missense probably damaging 1.00
R5074:Adcy8 UTSW 15 64,659,207 (GRCm39) missense probably damaging 1.00
R5091:Adcy8 UTSW 15 64,678,553 (GRCm39) missense probably damaging 1.00
R5285:Adcy8 UTSW 15 64,639,706 (GRCm39) missense possibly damaging 0.68
R5287:Adcy8 UTSW 15 64,588,001 (GRCm39) missense probably benign 0.04
R5403:Adcy8 UTSW 15 64,588,001 (GRCm39) missense probably benign 0.04
R5521:Adcy8 UTSW 15 64,687,199 (GRCm39) missense probably damaging 1.00
R5633:Adcy8 UTSW 15 64,571,134 (GRCm39) missense probably damaging 1.00
R5712:Adcy8 UTSW 15 64,626,715 (GRCm39) missense probably damaging 1.00
R5745:Adcy8 UTSW 15 64,792,320 (GRCm39) missense possibly damaging 0.91
R5787:Adcy8 UTSW 15 64,576,067 (GRCm39) missense probably damaging 0.98
R5839:Adcy8 UTSW 15 64,588,031 (GRCm39) missense probably damaging 1.00
R5890:Adcy8 UTSW 15 64,687,266 (GRCm39) missense probably damaging 1.00
R6156:Adcy8 UTSW 15 64,689,488 (GRCm39) splice site probably null
R6338:Adcy8 UTSW 15 64,792,466 (GRCm39) missense possibly damaging 0.94
R6516:Adcy8 UTSW 15 64,571,236 (GRCm39) missense probably damaging 1.00
R6525:Adcy8 UTSW 15 64,609,243 (GRCm39) nonsense probably null
R6636:Adcy8 UTSW 15 64,659,251 (GRCm39) missense probably damaging 1.00
R6823:Adcy8 UTSW 15 64,626,735 (GRCm39) critical splice acceptor site probably null
R7007:Adcy8 UTSW 15 64,576,565 (GRCm39) missense possibly damaging 0.88
R7092:Adcy8 UTSW 15 64,743,619 (GRCm39) missense possibly damaging 0.93
R7371:Adcy8 UTSW 15 64,571,067 (GRCm39) missense probably benign 0.19
R7457:Adcy8 UTSW 15 64,792,529 (GRCm39) missense possibly damaging 0.79
R7611:Adcy8 UTSW 15 64,792,882 (GRCm39) missense probably benign
R7644:Adcy8 UTSW 15 64,571,218 (GRCm39) missense possibly damaging 0.77
R7697:Adcy8 UTSW 15 64,618,850 (GRCm39) missense probably benign
R7735:Adcy8 UTSW 15 64,655,629 (GRCm39) missense probably benign 0.10
R7789:Adcy8 UTSW 15 64,743,623 (GRCm39) nonsense probably null
R7860:Adcy8 UTSW 15 64,571,322 (GRCm39) missense probably damaging 0.97
R7894:Adcy8 UTSW 15 64,792,054 (GRCm39) missense possibly damaging 0.60
R7948:Adcy8 UTSW 15 64,687,199 (GRCm39) missense possibly damaging 0.80
R7966:Adcy8 UTSW 15 64,573,939 (GRCm39) missense probably damaging 1.00
R8024:Adcy8 UTSW 15 64,792,095 (GRCm39) missense probably damaging 1.00
R8097:Adcy8 UTSW 15 64,743,711 (GRCm39) splice site probably null
R8158:Adcy8 UTSW 15 64,655,655 (GRCm39) missense probably benign 0.32
R8463:Adcy8 UTSW 15 64,792,874 (GRCm39) missense probably benign
R8474:Adcy8 UTSW 15 64,576,638 (GRCm39) missense probably damaging 0.98
R8696:Adcy8 UTSW 15 64,687,235 (GRCm39) missense probably benign 0.30
R8955:Adcy8 UTSW 15 64,576,554 (GRCm39) missense possibly damaging 0.92
R8973:Adcy8 UTSW 15 64,570,984 (GRCm39) makesense probably null
R9015:Adcy8 UTSW 15 64,597,206 (GRCm39) intron probably benign
R9041:Adcy8 UTSW 15 64,609,287 (GRCm39) missense probably benign 0.31
R9052:Adcy8 UTSW 15 64,792,764 (GRCm39) missense probably benign 0.00
R9074:Adcy8 UTSW 15 64,573,940 (GRCm39) missense probably damaging 0.96
R9183:Adcy8 UTSW 15 64,694,116 (GRCm39) missense probably damaging 0.98
R9259:Adcy8 UTSW 15 64,576,604 (GRCm39) missense probably damaging 1.00
R9498:Adcy8 UTSW 15 64,792,045 (GRCm39) missense possibly damaging 0.88
R9522:Adcy8 UTSW 15 64,792,560 (GRCm39) missense probably damaging 0.99
R9800:Adcy8 UTSW 15 64,571,095 (GRCm39) missense probably benign 0.19
Z1176:Adcy8 UTSW 15 64,597,367 (GRCm39) missense probably benign 0.16
Z1177:Adcy8 UTSW 15 64,571,026 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCGCTGTATTGCAGGTAAGTG -3'
(R):5'- GTGGCACCAAAGTCTTTCCG -3'

Sequencing Primer
(F):5'- ATTGCAGGTAAGTGTGGGAG -3'
(R):5'- GCGACTTGGGCTTCCTACAC -3'
Posted On 2019-05-13