Incidental Mutation 'R8024:Adcy8'
ID 617610
Institutional Source Beutler Lab
Gene Symbol Adcy8
Ensembl Gene ENSMUSG00000022376
Gene Name adenylate cyclase 8
Synonyms AC8
MMRRC Submission 067463-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R8024 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 64570884-64794145 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64792095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 287 (L287P)
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: L287P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: L287P

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: L287P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8194 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (74/74)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,760,713 (GRCm39) N1257Y probably benign Het
2310057J18Rik A T 10: 28,858,591 (GRCm39) Y133* probably null Het
2310057J18Rik A C 10: 28,862,213 (GRCm39) S26A possibly damaging Het
9930012K11Rik G T 14: 70,394,116 (GRCm39) P220T probably damaging Het
Adam1b A C 5: 121,638,986 (GRCm39) S686R probably benign Het
Adam8 T C 7: 139,567,489 (GRCm39) D418G probably damaging Het
Adhfe1 T A 1: 9,634,080 (GRCm39) M373K probably benign Het
Alpk2 T C 18: 65,438,106 (GRCm39) S1096G probably benign Het
Ankmy1 A G 1: 92,812,716 (GRCm39) V531A probably benign Het
Ano3 C T 2: 110,498,128 (GRCm39) E738K probably damaging Het
Ano4 T A 10: 88,807,194 (GRCm39) I796F probably damaging Het
Apeh T C 9: 107,969,790 (GRCm39) E190G probably benign Het
Atpsckmt T C 15: 31,608,317 (GRCm39) Y123H probably damaging Het
Cadm3 A G 1: 173,165,622 (GRCm39) L346P probably damaging Het
Ccdc9b A G 2: 118,591,005 (GRCm39) probably null Het
Clec2e G A 6: 129,071,388 (GRCm39) H150Y possibly damaging Het
Cnga4 A T 7: 105,056,042 (GRCm39) N318Y probably damaging Het
Cnr2 T A 4: 135,644,196 (GRCm39) F91L probably damaging Het
Diaph3 T A 14: 86,893,835 (GRCm39) E1147V probably damaging Het
Elmo2 T C 2: 165,133,775 (GRCm39) T738A unknown Het
Exoc4 T A 6: 33,324,866 (GRCm39) W387R probably damaging Het
Focad T C 4: 88,315,237 (GRCm39) V1379A unknown Het
Frmd4a T C 2: 4,608,513 (GRCm39) S794P probably damaging Het
Ftl1-ps1 A G 13: 74,555,170 (GRCm39) T150A probably benign Het
Gm43517 A T 12: 49,436,409 (GRCm39) probably benign Het
Gm5773 C T 3: 93,680,475 (GRCm39) A49V probably benign Het
Helz T A 11: 107,577,247 (GRCm39) L1867Q unknown Het
Il22ra1 A G 4: 135,461,589 (GRCm39) H118R probably benign Het
Inf2 C T 12: 112,575,336 (GRCm39) P856S unknown Het
Ints5 T A 19: 8,873,504 (GRCm39) L488I probably damaging Het
Iqca1l A G 5: 24,755,634 (GRCm39) M296T possibly damaging Het
Kifc1 G A 17: 34,102,177 (GRCm39) R479C probably damaging Het
Lrba T A 3: 86,202,708 (GRCm39) C289* probably null Het
Mael A G 1: 166,054,196 (GRCm39) L196S probably damaging Het
Med23 T A 10: 24,755,581 (GRCm39) S229R possibly damaging Het
Mroh9 T C 1: 162,866,802 (GRCm39) N645D probably benign Het
Myom3 G A 4: 135,529,059 (GRCm39) V1132I probably benign Het
Naalad2 T G 9: 18,308,769 (GRCm39) probably benign Het
Ndufa13 A T 8: 70,347,187 (GRCm39) L71H probably damaging Het
Nepro A T 16: 44,551,778 (GRCm39) H212L probably benign Het
Nmd3 T A 3: 69,637,298 (GRCm39) probably benign Het
Nox4 T A 7: 86,954,118 (GRCm39) L141Q probably damaging Het
Or4a81 T C 2: 89,619,390 (GRCm39) E102G probably benign Het
Or5p53 T C 7: 107,533,645 (GRCm39) V306A probably benign Het
Or5p58 T A 7: 107,694,496 (GRCm39) T94S probably benign Het
Or6c215 T G 10: 129,637,812 (GRCm39) E194A probably damaging Het
Or8s2 T A 15: 98,276,878 (GRCm39) M38L probably benign Het
Pfpl A G 19: 12,407,570 (GRCm39) D607G possibly damaging Het
Pkd1l2 A T 8: 117,802,921 (GRCm39) F233L possibly damaging Het
Prl6a1 A G 13: 27,502,678 (GRCm39) probably benign Het
Ptprz1 A T 6: 23,042,750 (GRCm39) E2058V probably damaging Het
Rag1 A T 2: 101,472,852 (GRCm39) N763K probably damaging Het
Rhbg A C 3: 88,155,760 (GRCm39) D63E probably damaging Het
Rrm1 T A 7: 102,106,472 (GRCm39) F330L probably benign Het
Scaf8 A T 17: 3,209,568 (GRCm39) Q97L unknown Het
Sdr9c7 G A 10: 127,734,751 (GRCm39) V80I probably benign Het
Slc18a1 A G 8: 69,527,799 (GRCm39) V4A probably benign Het
Slco3a1 T A 7: 74,204,218 (GRCm39) I41F probably benign Het
Slirp T C 12: 87,494,370 (GRCm39) V45A probably damaging Het
Spata31 A T 13: 65,070,618 (GRCm39) Q922L probably benign Het
Spg11 A G 2: 121,927,802 (GRCm39) S661P possibly damaging Het
Stab2 G T 10: 86,681,916 (GRCm39) T2495K probably benign Het
Supt16 A G 14: 52,408,332 (GRCm39) I871T probably damaging Het
Sval2 A G 6: 41,837,298 (GRCm39) Q9R probably damaging Het
Syngap1 A T 17: 27,160,426 (GRCm39) M1L probably benign Het
Tfpi A T 2: 84,284,266 (GRCm39) M62K possibly damaging Het
Tm4sf1 A T 3: 57,195,186 (GRCm39) Y200* probably null Het
Tmc1 A T 19: 20,878,181 (GRCm39) W105R probably damaging Het
Tmtc2 T C 10: 105,025,987 (GRCm39) E827G probably benign Het
Tollip T C 7: 141,446,563 (GRCm39) I33V probably benign Het
Unc80 T A 1: 66,645,803 (GRCm39) V1493D possibly damaging Het
Vmn2r6 G A 3: 64,467,245 (GRCm39) R85W probably benign Het
Vwa5a C A 9: 38,647,316 (GRCm39) S565* probably null Het
Xbp1 T A 11: 5,471,910 (GRCm39) V12D 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
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
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'- TGGTCAGGAAGGACAACACC -3'

Sequencing Primer
(F):5'- CGCACAAAGCCTAAGTAAGCTAAGG -3'
(R):5'- CTCCCACACTTACCTGCAATACAG -3'
Posted On 2020-01-23