Incidental Mutation 'R7371:Adcy8'
ID 572117
Institutional Source Beutler Lab
Gene Symbol Adcy8
Ensembl Gene ENSMUSG00000022376
Gene Name adenylate cyclase 8
Synonyms AC8
MMRRC Submission 045454-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7371 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 64570884-64794145 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64571067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1222 (H1222L)
Ref Sequence ENSEMBL: ENSMUSP00000023007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023007] [ENSMUST00000228014]
AlphaFold P97490
Predicted Effect probably benign
Transcript: ENSMUST00000023007
AA Change: H1222L

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: H1222L

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: H1192L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (88/90)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A C 12: 81,607,064 (GRCm39) S233A probably damaging Het
Aftph T C 11: 20,676,836 (GRCm39) T258A probably benign Het
Ano3 A C 2: 110,715,194 (GRCm39) probably null Het
Aox4 A G 1: 58,303,013 (GRCm39) D1148G probably damaging Het
Bcl11b A T 12: 107,955,750 (GRCm39) I133N probably damaging Het
Borcs7 T A 19: 46,688,057 (GRCm39) D67E probably damaging Het
Cacna2d4 T A 6: 119,285,670 (GRCm39) I774N probably benign Het
Catsperd A T 17: 56,957,801 (GRCm39) Y236F probably benign Het
Cblc T C 7: 19,526,828 (GRCm39) S135G probably benign Het
Ccdc168 C A 1: 44,100,537 (GRCm39) R187L probably benign Het
Ccdc178 A G 18: 22,263,195 (GRCm39) V138A probably benign Het
Cd300ld C T 11: 114,878,186 (GRCm39) G109R probably damaging Het
Cdh3 T A 8: 107,279,109 (GRCm39) N690K probably damaging Het
Ceacam1 T A 7: 25,174,145 (GRCm39) Y170F possibly damaging Het
Ceacam9 A C 7: 16,457,652 (GRCm39) H55P possibly damaging Het
Celsr1 C T 15: 85,914,875 (GRCm39) V1033I possibly damaging Het
Cep97 T C 16: 55,725,683 (GRCm39) S807G probably benign Het
Ces1b A G 8: 93,783,982 (GRCm39) probably null Het
Chn1 T C 2: 73,510,234 (GRCm39) T92A probably damaging Het
Cimap1b C A 15: 89,263,365 (GRCm39) W6L probably damaging Het
Cngb3 A C 4: 19,425,575 (GRCm39) Y461S possibly damaging Het
Col24a1 A G 3: 145,049,459 (GRCm39) N629S probably benign Het
Cpd T C 11: 76,737,437 (GRCm39) D119G probably benign Het
Cpsf1 T C 15: 76,484,775 (GRCm39) D594G probably damaging Het
Cpsf7 C T 19: 10,509,203 (GRCm39) A38V probably benign Het
Cry1 A T 10: 84,983,783 (GRCm39) H224Q probably benign Het
Ctr9 T A 7: 110,633,014 (GRCm39) D87E probably damaging Het
Cyp2u1 T A 3: 131,087,144 (GRCm39) N479I probably benign Het
Dip2c A G 13: 9,642,785 (GRCm39) N672D probably benign Het
Dnah14 T C 1: 181,454,450 (GRCm39) V820A probably benign Het
Efnb2 T C 8: 8,710,524 (GRCm39) I31V probably benign Het
Fgb T C 3: 82,953,359 (GRCm39) Y137C probably damaging Het
Fkbp15 A G 4: 62,239,293 (GRCm39) V604A possibly damaging Het
Flii A T 11: 60,609,090 (GRCm39) N682K probably benign Het
Fmo3 A G 1: 162,781,796 (GRCm39) L519P possibly damaging Het
Gapvd1 T A 2: 34,607,385 (GRCm39) M538L probably benign Het
Gbp11 A G 5: 105,489,971 (GRCm39) V69A probably benign Het
Ggn T A 7: 28,871,605 (GRCm39) D364E probably benign Het
Gm10377 G A 14: 42,614,853 (GRCm39) P171S probably benign Het
Gramd4 C T 15: 86,019,607 (GRCm39) A625V probably benign Het
Il2ra T A 2: 11,647,831 (GRCm39) M7K probably benign Het
Iqgap2 A T 13: 95,836,846 (GRCm39) probably null Het
Itgb4 T C 11: 115,888,906 (GRCm39) V1083A probably benign Het
Kcnma1 G A 14: 23,544,638 (GRCm39) A573V possibly damaging Het
Kirrel1 T C 3: 86,995,729 (GRCm39) T402A probably benign Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krt4 T A 15: 101,828,823 (GRCm39) Q347L probably damaging Het
Map3k21 T A 8: 126,661,804 (GRCm39) I467N probably damaging Het
Mastl A T 2: 23,030,585 (GRCm39) S195T probably damaging Het
Mis18bp1 G T 12: 65,205,368 (GRCm39) T268K probably benign Het
Mmp17 G A 5: 129,682,836 (GRCm39) G492S probably null Het
Myc T A 15: 61,860,031 (GRCm39) S236T probably damaging Het
Nlrp5 A T 7: 23,117,848 (GRCm39) E524V probably damaging Het
Nopchap1 T C 10: 83,201,680 (GRCm39) V151A probably benign Het
Npr3 T A 15: 11,845,376 (GRCm39) probably null Het
Oog4 T C 4: 143,165,346 (GRCm39) N267S possibly damaging Het
Or2a12 T A 6: 42,904,469 (GRCm39) Y101* probably null Het
Or4l15 A T 14: 50,198,563 (GRCm39) probably null Het
Or56a5 A G 7: 104,793,086 (GRCm39) I138T possibly damaging Het
Pde4dip T C 3: 97,664,587 (GRCm39) E425G probably benign Het
Piwil4 A C 9: 14,638,729 (GRCm39) N312K probably benign Het
Pmepa1 A G 2: 173,076,212 (GRCm39) M47T possibly damaging Het
Potefam1 A T 2: 111,023,826 (GRCm39) S475T unknown Het
Prkcg G A 7: 3,368,069 (GRCm39) G372D probably benign Het
Prune2 A G 19: 17,096,734 (GRCm39) H746R probably benign Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,457,261 (GRCm39) probably benign Het
Rab3gap2 C G 1: 184,983,265 (GRCm39) A468G probably damaging Het
Ralb A G 1: 119,400,129 (GRCm39) L123P Het
Ralgapa2 G A 2: 146,189,046 (GRCm39) T1288I probably benign Het
Samd4b C A 7: 28,122,926 (GRCm39) C44F probably benign Het
Satb1 C A 17: 52,090,008 (GRCm39) E280* probably null Het
Sec1 T C 7: 45,328,034 (GRCm39) T338A probably damaging Het
Sec16a T C 2: 26,331,734 (GRCm39) T94A probably benign Het
Serpina1f G A 12: 103,656,086 (GRCm39) R381W probably damaging Het
Sfswap A T 5: 129,620,305 (GRCm39) T525S probably benign Het
Skor1 T C 9: 63,054,169 (GRCm39) probably null Het
Spc24 A G 9: 21,668,664 (GRCm39) L111P probably damaging Het
St8sia2 T C 7: 73,616,675 (GRCm39) D121G probably damaging Het
Tanc2 A G 11: 105,689,422 (GRCm39) T195A probably benign Het
Tbc1d9 T A 8: 83,997,890 (GRCm39) I1149N probably damaging Het
Tph2 A T 10: 114,987,016 (GRCm39) L258Q probably damaging Het
Trpm3 A T 19: 22,879,557 (GRCm39) M781L probably benign Het
Ubap2 G T 4: 41,195,779 (GRCm39) P1005T probably benign Het
Upf2 A G 2: 5,965,851 (GRCm39) E157G unknown Het
Urb2 C A 8: 124,755,008 (GRCm39) D238E probably benign Het
Vipr1 T C 9: 121,497,621 (GRCm39) S380P probably damaging Het
Zc3h18 T A 8: 123,139,760 (GRCm39) S734T unknown Het
Zmym6 T A 4: 126,998,106 (GRCm39) Y381N probably damaging Het
Zscan4e T C 7: 11,041,251 (GRCm39) K207R 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
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'- TGTGCACTTGATCTTGGATACTC -3'
(R):5'- AACATACTTTCTCCTGGGACG -3'

Sequencing Primer
(F):5'- GCACTTGATCTTGGATACTCAAAGAC -3'
(R):5'- GAGTCCAACCCAACCCATTCATC -3'
Posted On 2019-09-13