Incidental Mutation 'R7894:Adcy8'
ID 609548
Institutional Source Beutler Lab
Gene Symbol Adcy8
Ensembl Gene ENSMUSG00000022376
Gene Name adenylate cyclase 8
Synonyms AC8
MMRRC Submission 045946-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R7894 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 64570884-64794145 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 64792054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 301 (Q301K)
Ref Sequence ENSEMBL: ENSMUSP00000023007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023007] [ENSMUST00000180105] [ENSMUST00000228014]
AlphaFold P97490
Predicted Effect possibly damaging
Transcript: ENSMUST00000023007
AA Change: Q301K

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: Q301K

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 benign
Transcript: ENSMUST00000228014
AA Change: Q301K

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (81/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,997,415 (GRCm39) M1551T possibly damaging Het
Abcc9 A G 6: 142,539,733 (GRCm39) *1547Q probably null Het
Adamts20 A C 15: 94,249,641 (GRCm39) C459G probably damaging Het
Adamts5 C T 16: 85,674,808 (GRCm39) W452* probably null Het
Adgrv1 A C 13: 81,715,570 (GRCm39) C873G probably benign Het
Ak9 A G 10: 41,296,535 (GRCm39) D1427G unknown Het
Amy2a1 T A 3: 113,324,190 (GRCm39) M117L possibly damaging Het
Ap5z1 G T 5: 142,452,039 (GRCm39) R23L probably benign Het
Ap5z1 C T 5: 142,456,191 (GRCm39) Q337* probably null Het
Astn1 C A 1: 158,429,508 (GRCm39) Q759K probably damaging Het
Cd276 T A 9: 58,444,762 (GRCm39) T70S possibly damaging Het
Cd38 C T 5: 44,057,746 (GRCm39) T106I probably damaging Het
Cdon C G 9: 35,388,244 (GRCm39) R740G probably damaging Het
Clk2 C T 3: 89,076,201 (GRCm39) R124W possibly damaging Het
Cyp1b1 C T 17: 80,021,644 (GRCm39) V33M possibly damaging Het
Dab1 T A 4: 104,589,335 (GRCm39) D547E probably benign Het
Degs1 A T 1: 182,104,416 (GRCm39) Y290N probably damaging Het
Degs1 G C 1: 182,104,417 (GRCm39) H289Q probably benign Het
Dop1b T A 16: 93,607,092 (GRCm39) C2249S probably benign Het
Ecpas T C 4: 58,853,708 (GRCm39) N361S probably damaging Het
Ehd4 A C 2: 119,932,909 (GRCm39) Y172* probably null Het
Erc2 A G 14: 27,499,165 (GRCm39) D347G probably damaging Het
Espl1 T G 15: 102,212,460 (GRCm39) V522G probably damaging Het
Fabp9 T A 3: 10,262,227 (GRCm39) T10S probably benign Het
Fam193a T C 5: 34,597,877 (GRCm39) I558T possibly damaging Het
Fhod1 T C 8: 106,057,789 (GRCm39) E912G probably damaging Het
Gja1 T C 10: 56,264,645 (GRCm39) F335L possibly damaging Het
Gm29106 A G 1: 118,127,265 (GRCm39) H319R probably damaging Het
Hunk C T 16: 90,269,353 (GRCm39) S299F probably damaging Het
Hydin C T 8: 111,239,642 (GRCm39) T1974M possibly damaging Het
Ighv10-1 T A 12: 114,442,650 (GRCm39) T112S probably damaging Het
Ireb2 T A 9: 54,789,620 (GRCm39) V98E probably damaging Het
Irf4 A C 13: 30,937,435 (GRCm39) H167P probably benign Het
Irf6 C T 1: 192,845,021 (GRCm39) P164L probably benign Het
Josd1 A G 15: 79,561,451 (GRCm39) I119T probably damaging Het
Kcna5 G T 6: 126,512,011 (GRCm39) T39K probably damaging Het
Klhl24 A G 16: 19,941,750 (GRCm39) D566G probably damaging Het
Kmt2a T A 9: 44,761,154 (GRCm39) K232* probably null Het
Krt36 A G 11: 99,996,061 (GRCm39) L121P probably damaging Het
Lama3 A T 18: 12,595,864 (GRCm39) H931L probably benign Het
Lamp3 A T 16: 19,474,141 (GRCm39) I411N probably damaging Het
Lingo3 C T 10: 80,670,610 (GRCm39) W440* probably null Het
Mia2 T C 12: 59,236,433 (GRCm39) Y712H probably damaging Het
Mlh1 T A 9: 111,059,145 (GRCm39) probably null Het
Mta3 T A 17: 84,070,363 (GRCm39) S174T probably benign Het
Myo15a A G 11: 60,381,963 (GRCm39) T347A Het
Naaladl2 C T 3: 23,900,718 (GRCm39) R704H possibly damaging Het
Nfib T C 4: 82,246,030 (GRCm39) N394S probably benign Het
Nr2f2 A G 7: 70,009,681 (GRCm39) Y133H probably damaging Het
Or2ak7 C T 11: 58,575,500 (GRCm39) S267F possibly damaging Het
Or2i1 C T 17: 37,508,047 (GRCm39) E196K probably damaging Het
Or4c115 A G 2: 88,927,932 (GRCm39) V113A possibly damaging Het
Or4f61 A T 2: 111,922,822 (GRCm39) C75S probably benign Het
Or5p62 T A 7: 107,771,391 (GRCm39) M187L probably benign Het
Phgdh C A 3: 98,247,124 (GRCm39) V9L probably damaging Het
Pkd2 T A 5: 104,628,103 (GRCm39) D392E probably damaging Het
Plekhm3 A G 1: 64,960,874 (GRCm39) S461P probably benign Het
Prss39 A G 1: 34,539,308 (GRCm39) T183A probably benign Het
Pter T A 2: 12,999,566 (GRCm39) I235K probably damaging Het
Ptp4a3 T C 15: 73,628,756 (GRCm39) V172A probably benign Het
Rasa2 T C 9: 96,484,780 (GRCm39) N145D probably benign Het
Rasal2 A T 1: 157,071,218 (GRCm39) H45Q probably benign Het
Rbm43 A G 2: 51,815,909 (GRCm39) V104A probably damaging Het
Rhbdd2 C A 5: 135,667,969 (GRCm39) probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rimbp2 T A 5: 128,838,528 (GRCm39) N1023I probably damaging Het
Rtl1 A T 12: 109,561,031 (GRCm39) D269E possibly damaging Het
Sbp A G 17: 24,161,163 (GRCm39) probably benign Het
Sorbs1 T A 19: 40,316,020 (GRCm39) T374S probably benign Het
Tgs1 A T 4: 3,598,652 (GRCm39) K655I probably benign Het
Thsd1 A C 8: 22,749,585 (GRCm39) T819P probably damaging Het
Tmprss11c C T 5: 86,379,655 (GRCm39) V418M probably damaging Het
Top2a A T 11: 98,900,431 (GRCm39) D645E probably damaging Het
Top2b G A 14: 16,413,081 (GRCm38) V997I possibly damaging Het
Ttc34 A G 4: 154,943,840 (GRCm39) D118G probably damaging Het
Ttll5 A G 12: 85,935,948 (GRCm39) D353G probably damaging Het
Uba6 A T 5: 86,265,924 (GRCm39) Y994* probably null Het
Vinac1 A C 2: 128,879,049 (GRCm39) V959G unknown Het
Vmn1r189 A T 13: 22,285,906 (GRCm39) Y310* probably null Het
Vps13c T A 9: 67,834,265 (GRCm39) I1644N probably damaging Het
Zfp811 T C 17: 33,017,821 (GRCm39) D73G possibly damaging Het
Zfp951 A T 5: 104,962,838 (GRCm39) C243S probably benign 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
R7070:Adcy8 UTSW 15 64,792,404 (GRCm39) missense probably damaging 1.00
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
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'- AGTTATTATGAGCCTTGACTCCCC -3'
(R):5'- TTACCTGCAATACAGCGGC -3'

Sequencing Primer
(F):5'- CGAGACGCACAAAGCCTAAGTAAG -3'
(R):5'- AATACAGCGGCGTGGTCAC -3'
Posted On 2019-12-20