Incidental Mutation 'IGL03119:Adcy1'
ID 409897
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adcy1
Ensembl Gene ENSMUSG00000020431
Gene Name adenylate cyclase 1
Synonyms AC1, I-AC, D11Bwg1392e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03119
Quality Score
Status
Chromosome 11
Chromosomal Location 7013489-7128506 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 7059051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 319 (T319I)
Ref Sequence ENSEMBL: ENSMUSP00000020706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020706]
AlphaFold O88444
Predicted Effect probably damaging
Transcript: ENSMUST00000020706
AA Change: T319I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: T319I

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
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,764,887 (GRCm39) T626A probably benign Het
Adgrv1 A G 13: 81,530,492 (GRCm39) S5861P probably damaging Het
Adgrv1 A C 13: 81,581,819 (GRCm39) C4742G probably benign Het
Arid5b A T 10: 68,079,057 (GRCm39) D93E probably damaging Het
Atp6v1h A G 1: 5,165,892 (GRCm39) T121A probably benign Het
Atxn7 C T 14: 14,100,734 (GRCm38) L807F probably damaging Het
Cep104 A C 4: 154,066,181 (GRCm39) K126N probably damaging Het
Dcaf6 T C 1: 165,167,545 (GRCm39) E708G probably damaging Het
Dst A G 1: 34,200,143 (GRCm39) Y107C probably damaging Het
E2f3 A G 13: 30,169,348 (GRCm39) S102P probably benign Het
Eif3e A C 15: 43,129,000 (GRCm39) S207A probably benign Het
Etl4 A G 2: 20,718,198 (GRCm39) Y313C probably damaging Het
Fyttd1 T C 16: 32,721,065 (GRCm39) V121A probably benign Het
Gstk1 T C 6: 42,226,833 (GRCm39) S200P probably damaging Het
Ifrd1 A T 12: 40,262,333 (GRCm39) F244L probably null Het
Ints7 T C 1: 191,342,477 (GRCm39) V491A probably damaging Het
Kcnd2 G T 6: 21,216,508 (GRCm39) E71* probably null Het
Ltbp3 A T 19: 5,807,471 (GRCm39) Q1123L probably damaging Het
Myo5a A G 9: 75,081,297 (GRCm39) T961A probably benign Het
Naa25 T A 5: 121,573,041 (GRCm39) V720E probably null Het
Or52ab4 A G 7: 102,987,929 (GRCm39) I223V probably damaging Het
Or5b121 T C 19: 13,507,799 (GRCm39) I298T probably benign Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Peli1 T C 11: 21,090,560 (GRCm39) probably benign Het
Ptbp1 T C 10: 79,695,458 (GRCm39) V209A probably damaging Het
Ranbp2 A G 10: 58,287,825 (GRCm39) Y31C probably damaging Het
Smg1 G A 7: 117,794,336 (GRCm39) probably benign Het
Stat2 A G 10: 128,119,386 (GRCm39) M457V probably benign Het
Trpm6 G T 19: 18,815,381 (GRCm39) E1156* probably null Het
Usp53 T A 3: 122,755,064 (GRCm39) R130S possibly damaging Het
Vwa5b1 A G 4: 138,333,852 (GRCm39) S193P probably benign Het
Xrn2 A G 2: 146,884,792 (GRCm39) I626V probably damaging Het
Zfp574 G A 7: 24,779,898 (GRCm39) A307T 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
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
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
Posted On 2016-08-02