Incidental Mutation 'R7529:Adcy1'
ID 583206
Institutional Source Beutler Lab
Gene Symbol Adcy1
Ensembl Gene ENSMUSG00000020431
Gene Name adenylate cyclase 1
Synonyms AC1, I-AC, D11Bwg1392e
MMRRC Submission 045601-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7529 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 7013489-7128506 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7089157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 524 (S524P)
Ref Sequence ENSEMBL: ENSMUSP00000020706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020706]
AlphaFold O88444
Predicted Effect probably damaging
Transcript: ENSMUST00000020706
AA Change: S524P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: S524P

DomainStartEndE-ValueType
low complexity region 2 36 N/A INTRINSIC
low complexity region 58 90 N/A INTRINSIC
low complexity region 112 135 N/A INTRINSIC
CYCc 257 455 2.05e-80 SMART
transmembrane domain 608 630 N/A INTRINSIC
transmembrane domain 634 656 N/A INTRINSIC
transmembrane domain 676 698 N/A INTRINSIC
CYCc 827 1038 1.71e-50 SMART
low complexity region 1090 1104 N/A INTRINSIC
Meta Mutation Damage Score 0.3171 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for an insertional or null mutation fail to develop normal patterned distribution of neurons in the brain and display behavioral and learning abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T A 7: 127,836,336 (GRCm39) K86* probably null Het
Ablim3 A C 18: 61,955,039 (GRCm39) S317A probably benign Het
Agps C A 2: 75,662,696 (GRCm39) A47E possibly damaging Het
Arhgef15 G T 11: 68,844,848 (GRCm39) R250S probably damaging Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atoh8 G T 6: 72,200,825 (GRCm39) D288E probably benign Het
B3galt2 A C 1: 143,522,274 (GRCm39) K137Q probably benign Het
Cacna2d4 G A 6: 119,247,727 (GRCm39) V343I probably benign Het
Cage1 T C 13: 38,209,731 (GRCm39) N82S possibly damaging Het
Cep350 A G 1: 155,737,669 (GRCm39) S2725P probably benign Het
Cfap65 T C 1: 74,965,769 (GRCm39) N414D probably damaging Het
Cgnl1 A C 9: 71,539,040 (GRCm39) L1154R probably damaging Het
Cmya5 A T 13: 93,233,942 (GRCm39) M382K probably benign Het
Dchs2 G A 3: 83,261,705 (GRCm39) V2658M possibly damaging Het
Dlgap5 T C 14: 47,653,876 (GRCm39) N51S probably damaging Het
Dnah17 A G 11: 117,940,692 (GRCm39) probably null Het
Dnal1 A G 12: 84,178,117 (GRCm39) I35V probably benign Het
Dtnbp1 A G 13: 45,084,546 (GRCm39) F198S probably damaging Het
Edar A T 10: 58,447,830 (GRCm39) S160T probably benign Het
Enpp3 A T 10: 24,674,072 (GRCm39) N409K probably damaging Het
Ercc6 T A 14: 32,282,686 (GRCm39) C726* probably null Het
Extl2 G A 3: 115,821,055 (GRCm39) V301I possibly damaging Het
G2e3 A G 12: 51,418,387 (GRCm39) Q594R probably damaging Het
Gal3st2c A G 1: 93,937,039 (GRCm39) N328S probably benign Het
Galnt17 A G 5: 131,335,218 (GRCm39) V74A probably damaging Het
Ggta1 A G 2: 35,304,256 (GRCm39) W76R probably damaging Het
Gm9772 T A 17: 22,226,140 (GRCm39) D48V probably benign Het
Herpud2 T C 9: 25,020,193 (GRCm39) T388A probably damaging Het
Ighv5-9-1 A G 12: 113,699,954 (GRCm39) S53P possibly damaging Het
Il23r T A 6: 67,467,720 (GRCm39) M16L possibly damaging Het
Ints1 G A 5: 139,753,481 (GRCm39) A717V possibly damaging Het
Itpr2 A T 6: 146,096,096 (GRCm39) L2122Q probably damaging Het
Klrg2 A T 6: 38,607,266 (GRCm39) V248E probably damaging Het
Krtap5-5 A G 7: 141,783,429 (GRCm39) C74R unknown Het
Luzp1 G T 4: 136,268,243 (GRCm39) L155F probably damaging Het
Mcam T C 9: 44,050,192 (GRCm39) V209A probably benign Het
Med1 G C 11: 98,046,791 (GRCm39) T1335R unknown Het
Mroh2b A G 15: 4,978,491 (GRCm39) I1346V probably damaging Het
Mrpl4 C G 9: 20,918,975 (GRCm39) Q201E probably benign Het
Muc21 A T 17: 35,930,123 (GRCm39) S1354R unknown Het
Mylk2 T C 2: 152,757,624 (GRCm39) L326P probably damaging Het
Myot A T 18: 44,479,240 (GRCm39) R326* probably null Het
Nox3 T A 17: 3,722,050 (GRCm39) R288S probably damaging Het
Nox4 A T 7: 87,044,976 (GRCm39) Y572F unknown Het
Or2v2 A G 11: 49,003,686 (GRCm39) L289P probably damaging Het
Or5an10 A G 19: 12,276,086 (GRCm39) S137P probably damaging Het
Pcdhb15 G T 18: 37,607,526 (GRCm39) E253* probably null Het
Plcb2 T C 2: 118,540,715 (GRCm39) H1052R probably damaging Het
Plpp5 A T 8: 26,214,233 (GRCm39) Q250L probably benign Het
Plxna2 T C 1: 194,326,179 (GRCm39) Y38H probably benign Het
Pnpla8 A G 12: 44,329,963 (GRCm39) K172E probably benign Het
Pramel23 T C 4: 143,429,244 (GRCm39) Het
Prl8a9 T A 13: 27,744,511 (GRCm39) D110V probably benign Het
Prrx1 T C 1: 163,081,533 (GRCm39) probably null Het
Prss52 T A 14: 64,347,037 (GRCm39) H70Q probably benign Het
Rcc1 T C 4: 132,061,874 (GRCm39) T300A probably benign Het
Rnf114 T C 2: 167,349,014 (GRCm39) V64A possibly damaging Het
Rnf168 T C 16: 32,117,732 (GRCm39) I431T probably damaging Het
Rnmt A G 18: 68,444,726 (GRCm39) M232V probably benign Het
Rrs1 A C 1: 9,616,417 (GRCm39) Q223H probably benign Het
Scyl3 A T 1: 163,771,438 (GRCm39) L261F probably damaging Het
Slc24a4 A T 12: 102,230,707 (GRCm39) T533S probably benign Het
Slc26a2 A G 18: 61,331,430 (GRCm39) L667P probably damaging Het
Snrnp40 T A 4: 130,278,275 (GRCm39) V260D possibly damaging Het
Snrpa A C 7: 26,888,878 (GRCm39) M174R probably benign Het
Ss18l1 C T 2: 179,699,950 (GRCm39) A270V possibly damaging Het
Stk19 G T 17: 35,043,632 (GRCm39) Q193K probably benign Het
Syne1 T A 10: 5,374,382 (GRCm39) I142L probably damaging Het
Tbx2 T C 11: 85,731,727 (GRCm39) S675P probably benign Het
Tcaf1 A G 6: 42,652,289 (GRCm39) I731T probably damaging Het
Tg G T 15: 66,566,617 (GRCm39) G1222W probably damaging Het
Tsc2 A G 17: 24,816,922 (GRCm39) F1581L probably damaging Het
Ubr4 G C 4: 139,149,728 (GRCm39) V520L probably benign Het
Wls A T 3: 159,578,644 (GRCm39) N69Y probably benign Het
Wnk2 A G 13: 49,254,457 (GRCm39) F353L possibly damaging Het
Xkr6 G T 14: 64,056,610 (GRCm39) V430F probably benign Het
Zfp64 C T 2: 168,735,992 (GRCm39) G562R probably benign Het
Zfp663 T G 2: 165,194,728 (GRCm39) E497A probably damaging Het
Zfp995 A T 17: 22,099,333 (GRCm39) C300* probably null Het
Other mutations in Adcy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Adcy1 APN 11 7,087,385 (GRCm39) missense probably damaging 0.99
IGL01325:Adcy1 APN 11 7,014,102 (GRCm39) missense possibly damaging 0.58
IGL01531:Adcy1 APN 11 7,119,414 (GRCm39) missense possibly damaging 0.95
IGL01585:Adcy1 APN 11 7,117,143 (GRCm39) missense probably damaging 1.00
IGL01932:Adcy1 APN 11 7,050,565 (GRCm39) splice site probably benign
IGL01945:Adcy1 APN 11 7,111,891 (GRCm39) missense probably damaging 1.00
IGL02532:Adcy1 APN 11 7,094,737 (GRCm39) missense probably benign 0.26
IGL02649:Adcy1 APN 11 7,117,156 (GRCm39) missense probably damaging 1.00
IGL02658:Adcy1 APN 11 7,088,279 (GRCm39) splice site probably benign
IGL02813:Adcy1 APN 11 7,096,591 (GRCm39) missense possibly damaging 0.83
IGL02931:Adcy1 APN 11 7,029,012 (GRCm39) missense probably benign 0.19
IGL03116:Adcy1 APN 11 7,100,071 (GRCm39) missense probably benign
IGL03119:Adcy1 APN 11 7,059,051 (GRCm39) missense probably damaging 1.00
IGL03214:Adcy1 APN 11 7,117,054 (GRCm39) splice site probably benign
PIT4431001:Adcy1 UTSW 11 7,014,089 (GRCm39) missense possibly damaging 0.93
PIT4520001:Adcy1 UTSW 11 7,117,133 (GRCm39) missense probably damaging 1.00
R0032:Adcy1 UTSW 11 7,094,729 (GRCm39) missense possibly damaging 0.93
R0032:Adcy1 UTSW 11 7,094,729 (GRCm39) missense possibly damaging 0.93
R0080:Adcy1 UTSW 11 7,099,497 (GRCm39) splice site probably benign
R0082:Adcy1 UTSW 11 7,099,497 (GRCm39) splice site probably benign
R0238:Adcy1 UTSW 11 7,089,162 (GRCm39) missense possibly damaging 0.80
R0238:Adcy1 UTSW 11 7,089,162 (GRCm39) missense possibly damaging 0.80
R0312:Adcy1 UTSW 11 7,099,538 (GRCm39) missense probably benign 0.08
R0569:Adcy1 UTSW 11 7,096,514 (GRCm39) missense probably benign 0.34
R1055:Adcy1 UTSW 11 7,059,075 (GRCm39) missense probably damaging 1.00
R1144:Adcy1 UTSW 11 7,087,400 (GRCm39) missense probably damaging 1.00
R1179:Adcy1 UTSW 11 7,117,054 (GRCm39) splice site probably null
R1245:Adcy1 UTSW 11 7,119,410 (GRCm39) splice site probably benign
R1467:Adcy1 UTSW 11 7,088,396 (GRCm39) missense probably damaging 0.97
R1467:Adcy1 UTSW 11 7,088,396 (GRCm39) missense probably damaging 0.97
R1823:Adcy1 UTSW 11 7,111,312 (GRCm39) missense probably benign 0.23
R1953:Adcy1 UTSW 11 7,028,991 (GRCm39) missense probably benign 0.01
R1957:Adcy1 UTSW 11 7,111,945 (GRCm39) missense probably benign 0.00
R2029:Adcy1 UTSW 11 7,089,142 (GRCm39) missense probably benign 0.10
R2051:Adcy1 UTSW 11 7,111,885 (GRCm39) nonsense probably null
R2483:Adcy1 UTSW 11 7,080,348 (GRCm39) missense probably benign 0.01
R3108:Adcy1 UTSW 11 7,119,453 (GRCm39) missense probably damaging 1.00
R3623:Adcy1 UTSW 11 7,080,348 (GRCm39) missense probably benign 0.01
R3624:Adcy1 UTSW 11 7,080,348 (GRCm39) missense probably benign 0.01
R4082:Adcy1 UTSW 11 7,014,117 (GRCm39) missense probably damaging 1.00
R4159:Adcy1 UTSW 11 7,013,889 (GRCm39) missense probably damaging 1.00
R4470:Adcy1 UTSW 11 7,094,804 (GRCm39) missense probably benign 0.17
R4472:Adcy1 UTSW 11 7,080,369 (GRCm39) missense probably damaging 1.00
R4951:Adcy1 UTSW 11 7,088,336 (GRCm39) missense possibly damaging 0.83
R4997:Adcy1 UTSW 11 7,111,298 (GRCm39) missense probably benign 0.25
R5237:Adcy1 UTSW 11 7,099,553 (GRCm39) missense probably benign 0.00
R5288:Adcy1 UTSW 11 7,111,351 (GRCm39) missense probably benign 0.01
R5304:Adcy1 UTSW 11 7,014,198 (GRCm39) missense probably benign 0.00
R5341:Adcy1 UTSW 11 7,080,375 (GRCm39) missense probably damaging 0.99
R5379:Adcy1 UTSW 11 7,096,532 (GRCm39) missense probably damaging 1.00
R5592:Adcy1 UTSW 11 7,089,088 (GRCm39) nonsense probably null
R5677:Adcy1 UTSW 11 7,111,914 (GRCm39) missense probably damaging 1.00
R5680:Adcy1 UTSW 11 7,059,020 (GRCm39) missense probably damaging 1.00
R5753:Adcy1 UTSW 11 7,080,300 (GRCm39) missense probably damaging 1.00
R5888:Adcy1 UTSW 11 7,089,095 (GRCm39) missense possibly damaging 0.66
R5943:Adcy1 UTSW 11 7,111,337 (GRCm39) missense probably damaging 1.00
R6435:Adcy1 UTSW 11 7,111,367 (GRCm39) missense possibly damaging 0.60
R6931:Adcy1 UTSW 11 7,100,884 (GRCm39) missense possibly damaging 0.81
R6998:Adcy1 UTSW 11 7,029,026 (GRCm39) missense probably damaging 1.00
R7368:Adcy1 UTSW 11 7,094,765 (GRCm39) missense probably damaging 1.00
R7378:Adcy1 UTSW 11 7,119,543 (GRCm39) missense possibly damaging 0.56
R7393:Adcy1 UTSW 11 7,087,381 (GRCm39) missense probably damaging 1.00
R7500:Adcy1 UTSW 11 7,094,762 (GRCm39) missense probably damaging 1.00
R8681:Adcy1 UTSW 11 7,111,328 (GRCm39) missense probably damaging 1.00
R8682:Adcy1 UTSW 11 7,111,328 (GRCm39) missense probably damaging 1.00
R8683:Adcy1 UTSW 11 7,111,328 (GRCm39) missense probably damaging 1.00
R8831:Adcy1 UTSW 11 7,111,362 (GRCm39) missense probably benign 0.02
R8859:Adcy1 UTSW 11 7,111,877 (GRCm39) missense probably benign 0.06
R8894:Adcy1 UTSW 11 7,087,375 (GRCm39) missense probably damaging 0.97
R8904:Adcy1 UTSW 11 7,059,075 (GRCm39) missense probably damaging 1.00
R8970:Adcy1 UTSW 11 7,099,983 (GRCm39) missense probably benign 0.00
R9037:Adcy1 UTSW 11 7,087,325 (GRCm39) missense possibly damaging 0.78
R9172:Adcy1 UTSW 11 7,110,317 (GRCm39) missense probably damaging 0.97
R9303:Adcy1 UTSW 11 7,094,766 (GRCm39) missense probably damaging 1.00
R9448:Adcy1 UTSW 11 7,099,575 (GRCm39) missense possibly damaging 0.94
R9694:Adcy1 UTSW 11 7,094,774 (GRCm39) missense probably damaging 1.00
R9763:Adcy1 UTSW 11 7,014,126 (GRCm39) missense probably damaging 1.00
X0027:Adcy1 UTSW 11 7,111,930 (GRCm39) missense possibly damaging 0.47
Z1088:Adcy1 UTSW 11 7,100,019 (GRCm39) missense probably benign 0.19
Z1176:Adcy1 UTSW 11 7,100,857 (GRCm39) missense probably damaging 0.96
Z1176:Adcy1 UTSW 11 7,099,536 (GRCm39) missense probably damaging 0.99
Z1176:Adcy1 UTSW 11 7,059,098 (GRCm39) missense probably damaging 1.00
Z1176:Adcy1 UTSW 11 7,100,858 (GRCm39) missense possibly damaging 0.62
Z1177:Adcy1 UTSW 11 7,094,802 (GRCm39) missense probably damaging 1.00
Z1177:Adcy1 UTSW 11 7,050,642 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAAGTCTTCCTTGCTGGGTAC -3'
(R):5'- TGTGTCAGCTCAAGAACTCC -3'

Sequencing Primer
(F):5'- TACCTGGTAGATCCCTGGGTAC -3'
(R):5'- TAGCCACATAATAGGCTTTCCAGG -3'
Posted On 2019-10-17