Incidental Mutation 'R5888:Adcy1'
ID 457813
Institutional Source Beutler Lab
Gene Symbol Adcy1
Ensembl Gene ENSMUSG00000020431
Gene Name adenylate cyclase 1
Synonyms AC1, I-AC, D11Bwg1392e
MMRRC Submission 044089-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5888 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 7013489-7128506 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7089095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 503 (V503E)
Ref Sequence ENSEMBL: ENSMUSP00000020706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020706]
AlphaFold O88444
Predicted Effect possibly damaging
Transcript: ENSMUST00000020706
AA Change: V503E

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: V503E

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 94% (96/102)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk C A 17: 72,181,938 (GRCm39) V1362L probably damaging Het
Ankrd55 T A 13: 112,492,453 (GRCm39) I208N possibly damaging Het
Asap2 T A 12: 21,268,191 (GRCm39) I319N probably damaging Het
Atp11b T C 3: 35,891,696 (GRCm39) I1036T probably benign Het
B4gat1 T C 19: 5,089,560 (GRCm39) F186L probably benign Het
C3 T A 17: 57,521,831 (GRCm39) T1079S probably damaging Het
Cacul1 G T 19: 60,525,902 (GRCm39) T287K possibly damaging Het
Cbr3 G C 16: 93,487,614 (GRCm39) G266R probably damaging Het
Cd63 T A 10: 128,748,160 (GRCm39) probably null Het
Chd7 G A 4: 8,866,382 (GRCm39) M851I probably damaging Het
Chst13 T A 6: 90,286,554 (GRCm39) H136L probably benign Het
Cyp2d22 T C 15: 82,258,014 (GRCm39) T179A probably benign Het
Dclre1b A T 3: 103,711,053 (GRCm39) V286E probably damaging Het
Defb45 G A 2: 152,435,154 (GRCm39) probably benign Het
Dlg1 T C 16: 31,610,704 (GRCm39) probably null Het
Dock3 A G 9: 106,901,002 (GRCm39) V321A probably benign Het
Dytn A T 1: 63,716,396 (GRCm39) V59E possibly damaging Het
Efcab3 T C 11: 104,612,227 (GRCm39) probably benign Het
Eif2ak1 A G 5: 143,823,733 (GRCm39) I393M probably damaging Het
Fam83g A T 11: 61,593,420 (GRCm39) E318V probably benign Het
Fbxo34 T A 14: 47,767,176 (GRCm39) F179I probably damaging Het
Fmo5 T A 3: 97,549,041 (GRCm39) Y230N probably benign Het
Fzd9 T G 5: 135,278,317 (GRCm39) probably null Het
Gata2 T C 6: 88,177,722 (GRCm39) S251P probably benign Het
Gigyf1 A G 5: 137,523,959 (GRCm39) D1043G probably damaging Het
Gm10322 T A 10: 59,452,125 (GRCm39) S81T probably benign Het
Gm15517 A T 7: 43,910,066 (GRCm39) probably benign Het
Haus4 T C 14: 54,781,676 (GRCm39) T232A probably benign Het
Hgfac A T 5: 35,202,751 (GRCm39) H417L probably damaging Het
Iqgap2 T C 13: 95,772,118 (GRCm39) K1354E possibly damaging Het
Kcnk12 C A 17: 88,054,077 (GRCm39) R195L probably benign Het
Kcnn2 A T 18: 45,725,412 (GRCm39) I303F probably damaging Het
Kcnt1 T C 2: 25,798,122 (GRCm39) F879S probably damaging Het
Kndc1 T C 7: 139,475,133 (GRCm39) F11L probably benign Het
Kpna7 A G 5: 144,926,605 (GRCm39) F449S probably damaging Het
Krt77 G T 15: 101,773,888 (GRCm39) N255K probably benign Het
Lair1 A T 7: 4,013,844 (GRCm39) D134E probably damaging Het
Loxhd1 T C 18: 77,490,211 (GRCm39) V1318A probably damaging Het
Marchf10 A T 11: 105,292,972 (GRCm39) V145D possibly damaging Het
Mcpt1 T A 14: 56,256,969 (GRCm39) M169K probably benign Het
Mdc1 T A 17: 36,158,712 (GRCm39) V364E probably benign Het
Mfsd11 T C 11: 116,762,210 (GRCm39) F270S probably damaging Het
Mfsd4b2 T G 10: 39,798,031 (GRCm39) D108A probably benign Het
Mink1 A T 11: 70,500,885 (GRCm39) probably benign Het
Mmp25 T C 17: 23,850,048 (GRCm39) Y504C probably damaging Het
Ms4a13 C T 19: 11,168,870 (GRCm39) V52I probably benign Het
Msh4 C T 3: 153,573,360 (GRCm39) probably null Het
Muc5b T G 7: 141,412,158 (GRCm39) S1701R unknown Het
Naalad2 A T 9: 18,241,937 (GRCm39) S656T probably benign Het
Ncapd2 T C 6: 125,164,052 (GRCm39) Y64C probably damaging Het
Ncapg2 T A 12: 116,389,420 (GRCm39) S347T possibly damaging Het
Ndufb11b T C 15: 81,864,872 (GRCm39) S38P probably benign Het
Nipal4 T C 11: 46,042,166 (GRCm39) T172A probably damaging Het
Nrros T C 16: 31,961,905 (GRCm39) K652R probably benign Het
Nrxn3 G T 12: 89,478,855 (GRCm39) A983S possibly damaging Het
Or4a76 T A 2: 89,461,143 (GRCm39) Y33F probably damaging Het
Or4ac1-ps1 T C 2: 88,370,588 (GRCm39) noncoding transcript Het
Or4c115 T A 2: 88,928,269 (GRCm39) M1L probably damaging Het
Or4k77 T C 2: 111,199,088 (GRCm39) M37T probably benign Het
Or51m1 A G 7: 103,578,239 (GRCm39) T70A possibly damaging Het
Or8g24 A T 9: 38,989,263 (GRCm39) Y259* probably null Het
Or8k37 A C 2: 86,469,488 (GRCm39) L188R probably damaging Het
P2rx4 T A 5: 122,857,228 (GRCm39) S155T probably benign Het
P2rx4 T G 5: 122,865,271 (GRCm39) Y299D probably damaging Het
Pcsk6 A T 7: 65,693,372 (GRCm39) L7F probably null Het
Pdss2 T C 10: 43,097,793 (GRCm39) silent Het
Pfkl A G 10: 77,827,204 (GRCm39) V494A possibly damaging Het
Prep G T 10: 44,943,460 (GRCm39) D12Y possibly damaging Het
Prg4 A G 1: 150,328,101 (GRCm39) F188S probably damaging Het
Ripor3 T C 2: 167,839,207 (GRCm39) Y98C probably damaging Het
Rnf216 T A 5: 143,054,069 (GRCm39) probably null Het
Rnf24 A G 2: 131,164,165 (GRCm39) probably benign Het
Rps18-ps6 G A 13: 97,896,901 (GRCm39) R66* probably null Het
Scn3a A G 2: 65,327,742 (GRCm39) M916T probably benign Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Sh2b3 C G 5: 121,967,084 (GRCm39) R10P possibly damaging Het
Slc25a27 T C 17: 43,960,585 (GRCm39) D211G probably damaging Het
Slc36a4 A T 9: 15,638,324 (GRCm39) Y250F probably damaging Het
Slc4a1 T A 11: 102,247,351 (GRCm39) E448V probably damaging Het
Slit1 C A 19: 41,731,735 (GRCm39) C38F probably damaging Het
Spock3 T A 8: 63,808,334 (GRCm39) N410K unknown Het
Supt20 G T 3: 54,619,628 (GRCm39) W370L probably benign Het
Tas2r139 T A 6: 42,118,430 (GRCm39) N187K probably damaging Het
Tbc1d9b G A 11: 50,031,311 (GRCm39) V111I probably benign Het
Thsd7b T A 1: 130,138,057 (GRCm39) Y1578* probably null Het
Tln2 T A 9: 67,136,685 (GRCm39) I1267F probably damaging Het
Tnk2 G A 16: 32,490,185 (GRCm39) V363I probably damaging Het
Ttc32 A G 12: 9,085,870 (GRCm39) K139R possibly damaging Het
Vmn1r30 G C 6: 58,412,550 (GRCm39) T94S possibly damaging Het
Vmn1r90 G A 7: 14,295,780 (GRCm39) T106I probably damaging Het
Zfp677 T A 17: 21,618,520 (GRCm39) C526S probably damaging Het
Zfp831 T G 2: 174,485,420 (GRCm39) S32A probably benign 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
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
R7529:Adcy1 UTSW 11 7,089,157 (GRCm39) missense probably damaging 0.98
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'- TTGGGTGTAGAACAAAGCATGC -3'
(R):5'- CGGGGAATGTGAGCTTAGAC -3'

Sequencing Primer
(F):5'- AGCTTTGAGGTGCCATTTCC -3'
(R):5'- TGTGAGCTTAGACCTAGATAAACAC -3'
Posted On 2017-02-15