Incidental Mutation 'IGL01735:Adcy3'
ID 105674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adcy3
Ensembl Gene ENSMUSG00000020654
Gene Name adenylate cyclase 3
Synonyms AC3, ACIII
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # IGL01735
Quality Score
Status
Chromosome 12
Chromosomal Location 4183397-4263525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4251213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 612 (M612L)
Ref Sequence ENSEMBL: ENSMUSP00000115644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020984] [ENSMUST00000111169] [ENSMUST00000124505] [ENSMUST00000127756] [ENSMUST00000152065]
AlphaFold Q8VHH7
Predicted Effect probably benign
Transcript: ENSMUST00000020984
AA Change: M612L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654
AA Change: M612L

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
transmembrane domain 105 125 N/A INTRINSIC
transmembrane domain 138 160 N/A INTRINSIC
transmembrane domain 170 187 N/A INTRINSIC
transmembrane domain 189 211 N/A INTRINSIC
transmembrane domain 226 245 N/A INTRINSIC
CYCc 270 472 2.17e-61 SMART
low complexity region 516 526 N/A INTRINSIC
low complexity region 535 554 N/A INTRINSIC
coiled coil region 567 600 N/A INTRINSIC
transmembrane domain 631 650 N/A INTRINSIC
transmembrane domain 660 682 N/A INTRINSIC
transmembrane domain 710 732 N/A INTRINSIC
transmembrane domain 752 771 N/A INTRINSIC
transmembrane domain 776 798 N/A INTRINSIC
transmembrane domain 841 858 N/A INTRINSIC
CYCc 884 1103 2.02e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111169
SMART Domains Protein: ENSMUSP00000106799
Gene: ENSMUSG00000020652

DomainStartEndE-ValueType
coiled coil region 39 74 N/A INTRINSIC
Pfam:CENP-O 118 195 2.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124505
AA Change: M612L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654
AA Change: M612L

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
transmembrane domain 105 125 N/A INTRINSIC
transmembrane domain 138 160 N/A INTRINSIC
transmembrane domain 170 187 N/A INTRINSIC
transmembrane domain 189 211 N/A INTRINSIC
transmembrane domain 226 245 N/A INTRINSIC
CYCc 270 472 2.17e-61 SMART
low complexity region 516 526 N/A INTRINSIC
low complexity region 535 554 N/A INTRINSIC
coiled coil region 567 600 N/A INTRINSIC
transmembrane domain 631 650 N/A INTRINSIC
transmembrane domain 660 682 N/A INTRINSIC
transmembrane domain 710 732 N/A INTRINSIC
transmembrane domain 752 771 N/A INTRINSIC
transmembrane domain 776 798 N/A INTRINSIC
transmembrane domain 840 857 N/A INTRINSIC
CYCc 883 1102 2.02e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127110
Predicted Effect probably benign
Transcript: ENSMUST00000127756
AA Change: M612L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654
AA Change: M612L

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 78 88 N/A INTRINSIC
low complexity region 183 197 N/A INTRINSIC
CYCc 270 472 2.17e-61 SMART
low complexity region 516 526 N/A INTRINSIC
low complexity region 535 554 N/A INTRINSIC
coiled coil region 567 600 N/A INTRINSIC
transmembrane domain 631 650 N/A INTRINSIC
transmembrane domain 660 682 N/A INTRINSIC
transmembrane domain 710 732 N/A INTRINSIC
transmembrane domain 752 771 N/A INTRINSIC
transmembrane domain 776 798 N/A INTRINSIC
transmembrane domain 841 858 N/A INTRINSIC
CYCc 884 1103 2.02e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146261
Predicted Effect probably benign
Transcript: ENSMUST00000152065
AA Change: M612L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654
AA Change: M612L

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
transmembrane domain 105 125 N/A INTRINSIC
transmembrane domain 138 160 N/A INTRINSIC
transmembrane domain 170 187 N/A INTRINSIC
transmembrane domain 189 211 N/A INTRINSIC
transmembrane domain 226 245 N/A INTRINSIC
CYCc 270 472 2.17e-61 SMART
low complexity region 516 526 N/A INTRINSIC
low complexity region 535 554 N/A INTRINSIC
coiled coil region 567 600 N/A INTRINSIC
transmembrane domain 631 650 N/A INTRINSIC
transmembrane domain 660 682 N/A INTRINSIC
transmembrane domain 710 732 N/A INTRINSIC
transmembrane domain 752 771 N/A INTRINSIC
transmembrane domain 776 798 N/A INTRINSIC
transmembrane domain 840 857 N/A INTRINSIC
CYCc 883 1102 2.02e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150944
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 adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for one mutation of this gene display impaired olfaction and disorganization of glomeruli in the main olfactory bulb. Mutant animals also appear to be sterile as homozygous matings failed to produce litters. Mice with another mutant allele fail to survive beyond weaning. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted(4) Gene trapped(5)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 C A 1: 9,618,373 (GRCm39) T19K possibly damaging Het
Atxn1 C T 13: 45,720,198 (GRCm39) V566M probably damaging Het
Bag6 T C 17: 35,364,737 (GRCm39) probably benign Het
Cdkl1 T G 12: 69,797,514 (GRCm39) Y258S probably benign Het
Chil6 A T 3: 106,296,004 (GRCm39) probably null Het
Clcn7 T C 17: 25,370,090 (GRCm39) F326L probably benign Het
Cngb3 A G 4: 19,415,648 (GRCm39) Y386C probably damaging Het
Dnah6 C A 6: 73,053,643 (GRCm39) E2916* probably null Het
Dnhd1 A G 7: 105,362,961 (GRCm39) E3841G probably benign Het
Fat1 G T 8: 45,489,276 (GRCm39) V3493L probably benign Het
Irx5 A T 8: 93,087,331 (GRCm39) H421L probably damaging Het
Kbtbd6 T C 14: 79,690,889 (GRCm39) V465A probably damaging Het
Kcp T A 6: 29,498,878 (GRCm39) N340I probably damaging Het
Klhdc2 A G 12: 69,347,053 (GRCm39) M73V probably benign Het
Lpar1 A G 4: 58,437,407 (GRCm39) S341P probably damaging Het
Lrba G A 3: 86,234,968 (GRCm39) V838I probably benign Het
Med12l A G 3: 59,170,675 (GRCm39) I1652V probably damaging Het
Myo5c A T 9: 75,208,720 (GRCm39) D1677V probably damaging Het
Ncoa2 A T 1: 13,235,127 (GRCm39) N935K probably benign Het
Nfrkb T C 9: 31,321,435 (GRCm39) S711P possibly damaging Het
Or1j20 C A 2: 36,759,698 (GRCm39) T40K possibly damaging Het
Or52ae7 T C 7: 103,119,530 (GRCm39) F95L probably damaging Het
Or5w16 A G 2: 87,576,650 (GRCm39) I37V probably benign Het
Pramel27 A G 4: 143,578,401 (GRCm39) I220M probably damaging Het
Prl7d1 A G 13: 27,898,372 (GRCm39) F47L possibly damaging Het
Ptprd A C 4: 76,055,057 (GRCm39) probably null Het
Rsph14 C A 10: 74,860,992 (GRCm39) G103C probably damaging Het
Slco1a4 A G 6: 141,763,477 (GRCm39) F413S probably benign Het
Slfn9 A G 11: 82,873,158 (GRCm39) Y582H probably damaging Het
Tcirg1 A T 19: 3,954,210 (GRCm39) probably benign Het
Trac G A 14: 54,460,438 (GRCm39) probably benign Het
Wbp2nl G T 15: 82,198,017 (GRCm39) V185L probably benign Het
Other mutations in Adcy3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Adcy3 APN 12 4,244,357 (GRCm39) missense probably damaging 1.00
IGL00985:Adcy3 APN 12 4,184,600 (GRCm39) missense probably damaging 0.98
IGL02097:Adcy3 APN 12 4,262,118 (GRCm39) missense probably damaging 1.00
IGL02102:Adcy3 APN 12 4,184,699 (GRCm39) missense probably damaging 1.00
IGL02103:Adcy3 APN 12 4,184,390 (GRCm39) missense possibly damaging 0.69
IGL02155:Adcy3 APN 12 4,262,142 (GRCm39) nonsense probably null
IGL02376:Adcy3 APN 12 4,251,031 (GRCm39) missense possibly damaging 0.77
IGL02411:Adcy3 APN 12 4,259,407 (GRCm39) splice site probably null
IGL02465:Adcy3 APN 12 4,250,906 (GRCm39) missense probably benign 0.10
IGL02819:Adcy3 APN 12 4,256,986 (GRCm39) splice site probably benign
magnificent_frigatebird UTSW 12 4,244,324 (GRCm39) missense probably damaging 1.00
R0015:Adcy3 UTSW 12 4,245,260 (GRCm39) critical splice donor site probably null
R0015:Adcy3 UTSW 12 4,245,260 (GRCm39) critical splice donor site probably null
R0918:Adcy3 UTSW 12 4,248,360 (GRCm39) missense probably benign 0.05
R1480:Adcy3 UTSW 12 4,262,171 (GRCm39) missense probably damaging 1.00
R1736:Adcy3 UTSW 12 4,250,998 (GRCm39) missense possibly damaging 0.87
R1885:Adcy3 UTSW 12 4,184,951 (GRCm39) missense probably damaging 1.00
R1897:Adcy3 UTSW 12 4,223,450 (GRCm39) splice site probably benign
R1951:Adcy3 UTSW 12 4,258,624 (GRCm39) missense probably benign 0.29
R2083:Adcy3 UTSW 12 4,223,512 (GRCm39) missense probably damaging 1.00
R2417:Adcy3 UTSW 12 4,258,627 (GRCm39) missense probably benign 0.05
R4379:Adcy3 UTSW 12 4,184,558 (GRCm39) missense probably damaging 1.00
R4785:Adcy3 UTSW 12 4,256,542 (GRCm39) missense probably benign 0.00
R4960:Adcy3 UTSW 12 4,184,896 (GRCm39) missense probably benign 0.11
R5001:Adcy3 UTSW 12 4,248,434 (GRCm39) missense possibly damaging 0.56
R5166:Adcy3 UTSW 12 4,184,438 (GRCm39) missense probably damaging 1.00
R5375:Adcy3 UTSW 12 4,260,870 (GRCm39) missense probably damaging 1.00
R5416:Adcy3 UTSW 12 4,259,308 (GRCm39) missense probably damaging 1.00
R5998:Adcy3 UTSW 12 4,248,348 (GRCm39) missense probably damaging 1.00
R6248:Adcy3 UTSW 12 4,258,662 (GRCm39) critical splice donor site probably null
R6490:Adcy3 UTSW 12 4,262,150 (GRCm39) missense probably damaging 1.00
R6566:Adcy3 UTSW 12 4,244,324 (GRCm39) missense probably damaging 1.00
R7145:Adcy3 UTSW 12 4,250,992 (GRCm39) missense probably benign 0.20
R7283:Adcy3 UTSW 12 4,253,563 (GRCm39) missense not run
R7559:Adcy3 UTSW 12 4,248,440 (GRCm39) missense probably benign 0.06
R7691:Adcy3 UTSW 12 4,256,540 (GRCm39) missense probably benign 0.17
R7799:Adcy3 UTSW 12 4,254,762 (GRCm39) missense probably damaging 1.00
R8074:Adcy3 UTSW 12 4,184,420 (GRCm39) missense probably benign 0.00
R8283:Adcy3 UTSW 12 4,250,935 (GRCm39) missense probably damaging 1.00
R8298:Adcy3 UTSW 12 4,256,482 (GRCm39) missense probably damaging 1.00
R8515:Adcy3 UTSW 12 4,262,187 (GRCm39) missense probably damaging 1.00
R9145:Adcy3 UTSW 12 4,245,208 (GRCm39) missense probably damaging 0.99
R9361:Adcy3 UTSW 12 4,259,366 (GRCm39) missense possibly damaging 0.80
R9464:Adcy3 UTSW 12 4,256,939 (GRCm39) missense probably benign
R9643:Adcy3 UTSW 12 4,259,455 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21