Incidental Mutation 'R8955:Adcy8'
ID 681966
Institutional Source Beutler Lab
Gene Symbol Adcy8
Ensembl Gene ENSMUSG00000022376
Gene Name adenylate cyclase 8
Synonyms AC8
MMRRC Submission 068791-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R8955 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 64570884-64794145 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 64576554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1003 (V1003I)
Ref Sequence ENSEMBL: ENSMUSP00000023007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023007] [ENSMUST00000228014]
AlphaFold P97490
Predicted Effect possibly damaging
Transcript: ENSMUST00000023007
AA Change: V1003I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: V1003I

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: V973I

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 T A 5: 50,118,731 (GRCm39) Y939F probably benign Het
Adra2b T C 2: 127,205,504 (GRCm39) V2A probably benign Het
Aga T A 8: 53,974,164 (GRCm39) Y296N possibly damaging Het
Apc A G 18: 34,401,370 (GRCm39) Q52R probably damaging Het
Arfgef1 A T 1: 10,270,062 (GRCm39) S362R probably benign Het
Arhgef7 C T 8: 11,808,451 (GRCm39) probably benign Het
Bmp5 A T 9: 75,805,835 (GRCm39) M446L probably damaging Het
Carmil3 C T 14: 55,733,534 (GRCm39) T350I probably damaging Het
Cd44 T A 2: 102,683,363 (GRCm39) T224S probably damaging Het
Cep112 A T 11: 108,643,260 (GRCm39) I7F possibly damaging Het
Chrna2 G A 14: 66,379,681 (GRCm39) A7T probably benign Het
Cldn16 G A 16: 26,301,270 (GRCm39) V193I probably benign Het
Clec4a3 G A 6: 122,943,479 (GRCm39) E100K possibly damaging Het
Cntln C T 4: 84,986,110 (GRCm39) T1026I possibly damaging Het
Cyp4v3 T A 8: 45,761,564 (GRCm39) I420F probably benign Het
Dcbld2 G A 16: 58,271,125 (GRCm39) A301T Het
Dnah1 A T 14: 31,007,950 (GRCm39) D2152E probably benign Het
Dpy19l4 A G 4: 11,290,195 (GRCm39) V179A probably benign Het
Dusp4 T A 8: 35,284,462 (GRCm39) I259N probably damaging Het
Enpp1 T A 10: 24,544,926 (GRCm39) I318F probably benign Het
Entpd6 T C 2: 150,595,005 (GRCm39) V15A possibly damaging Het
Epb41l1 C G 2: 156,363,923 (GRCm39) Q811E probably benign Het
Epb41l5 T C 1: 119,570,292 (GRCm39) H32R probably damaging Het
Fam135b C T 15: 71,334,063 (GRCm39) V1044I possibly damaging Het
Fat4 A T 3: 39,037,778 (GRCm39) H3810L probably benign Het
Fbxw28 T A 9: 109,167,857 (GRCm39) probably null Het
Flnb T G 14: 7,892,874 (GRCm38) V648G probably damaging Het
Flnb T A 14: 7,904,688 (GRCm38) Y1030* probably null Het
Fndc3a T C 14: 72,794,410 (GRCm39) T787A probably benign Het
Gli2 T A 1: 118,783,187 (GRCm39) H106L probably damaging Het
Gm10283 T A 8: 60,954,390 (GRCm39) probably null Het
Gm3336 C T 8: 71,174,545 (GRCm39) R67* probably null Het
Gsr T G 8: 34,183,936 (GRCm39) I399M possibly damaging Het
Gtf2ird2 T A 5: 134,245,596 (GRCm39) M618K probably damaging Het
Gtf3c3 T A 1: 54,462,722 (GRCm39) D347V probably benign Het
Hspa12a T C 19: 58,788,058 (GRCm39) Y588C probably damaging Het
Il20ra A G 10: 19,635,160 (GRCm39) E467G possibly damaging Het
Inf2 A G 12: 112,576,998 (GRCm39) I991V unknown Het
Irag2 A T 6: 145,117,390 (GRCm39) M376L probably benign Het
Irx6 T C 8: 93,405,040 (GRCm39) C303R probably damaging Het
Kcnmb4 T A 10: 116,309,381 (GRCm39) K16* probably null Het
Kirrel3 T C 9: 34,855,738 (GRCm39) L86P probably damaging Het
Lipo5 A C 19: 33,450,530 (GRCm39) F21V Het
Lrrc31 T A 3: 30,733,267 (GRCm39) R482S probably benign Het
Lrrc3b C T 14: 15,358,159 (GRCm38) C149Y probably damaging Het
Lrrk1 A G 7: 65,919,573 (GRCm39) M446T probably benign Het
Macroh2a2 A T 10: 61,593,610 (GRCm39) I22N probably damaging Het
Mettl14 C T 3: 123,167,693 (GRCm39) D222N probably benign Het
Mfsd4b3-ps G A 10: 39,824,072 (GRCm39) H63Y probably benign Het
Myo16 T C 8: 10,426,175 (GRCm39) W311R probably damaging Het
Nccrp1 A T 7: 28,245,628 (GRCm39) N151K probably benign Het
Obsl1 T C 1: 75,480,493 (GRCm39) D377G probably damaging Het
Or5b97 T A 19: 12,878,578 (GRCm39) T189S probably benign Het
Or5p80 T A 7: 108,229,506 (GRCm39) C102* probably null Het
Or7c19 T A 8: 85,957,913 (GRCm39) I263N probably benign Het
Or7c70 G T 10: 78,683,576 (GRCm39) P58T probably damaging Het
Pigb T C 9: 72,945,983 (GRCm39) N63S probably damaging Het
Plch2 T C 4: 155,077,023 (GRCm39) E577G probably benign Het
Prkab2 T C 3: 97,573,943 (GRCm39) V194A probably benign Het
Psd3 T C 8: 68,416,461 (GRCm39) I479V probably benign Het
Ralgapb C A 2: 158,279,264 (GRCm39) P117T probably benign Het
Ralgapb C G 2: 158,337,389 (GRCm39) T1116R probably damaging Het
Rpap2 T A 5: 107,768,361 (GRCm39) S400T possibly damaging Het
Rpgrip1l C A 8: 92,007,456 (GRCm39) W378L possibly damaging Het
Rps20 T A 4: 3,834,617 (GRCm39) M82L probably benign Het
Rps5 T C 7: 12,659,440 (GRCm39) M77T possibly damaging Het
Scaf11 A G 15: 96,318,371 (GRCm39) S398P probably damaging Het
Sdf2 T A 11: 78,145,763 (GRCm39) D153E probably benign Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc12a9 T C 5: 137,329,270 (GRCm39) N128S probably damaging Het
Slc25a32 C A 15: 38,960,946 (GRCm39) G246C probably damaging Het
Slc38a4 C T 15: 96,914,662 (GRCm39) A64T probably benign Het
Slit3 T C 11: 35,589,207 (GRCm39) V1254A probably damaging Het
Slx4 T C 16: 3,808,111 (GRCm39) K481R probably benign Het
Tcea1 A G 1: 4,959,732 (GRCm39) T136A probably benign Het
Thra A G 11: 98,644,449 (GRCm39) D13G possibly damaging Het
Tmed9 G A 13: 55,744,775 (GRCm39) S227N probably benign Het
Trim80 C A 11: 115,331,538 (GRCm39) T20K probably benign Het
Trmt61a G T 12: 111,649,256 (GRCm39) V276L probably benign Het
Trpc4ap T C 2: 155,508,171 (GRCm39) D160G possibly damaging Het
Ubr5 C T 15: 38,029,825 (GRCm39) E467K Het
Vars2 C A 17: 35,972,541 (GRCm39) G26W probably damaging Het
Vmn1r226 G T 17: 20,908,287 (GRCm39) R173L possibly damaging Het
Vmn1r29 G T 6: 58,284,284 (GRCm39) M1I probably null Het
Vmn2r3 G T 3: 64,168,803 (GRCm39) P578Q possibly damaging Het
Vmn2r57 A T 7: 41,049,571 (GRCm39) I726N possibly damaging Het
Zfp39 A T 11: 58,780,946 (GRCm39) Y605* probably null 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
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
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'- CTAACTAAAACGGTTGAGCATCC -3'
(R):5'- GGGTCCTTATGCACAGGTAG -3'

Sequencing Primer
(F):5'- TGGACACCATTGCACACTGTG -3'
(R):5'- GTCCTTATGCACAGGTAGCATCATG -3'
Posted On 2021-08-31