Incidental Mutation 'IGL02819:Adcy3'
ID 360936
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 # IGL02819
Quality Score
Status
Chromosome 12
Chromosomal Location 4183397-4263525 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 4256986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020984] [ENSMUST00000111169] [ENSMUST00000124505] [ENSMUST00000127756] [ENSMUST00000140975] [ENSMUST00000152065]
AlphaFold Q8VHH7
Predicted Effect probably benign
Transcript: ENSMUST00000020984
SMART Domains Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654

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
SMART Domains Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654

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
SMART Domains Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654

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: ENSMUST00000140975
SMART Domains Protein: ENSMUSP00000119136
Gene: ENSMUSG00000020652

DomainStartEndE-ValueType
coiled coil region 39 74 N/A INTRINSIC
Pfam:CENP-O 117 231 9.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152792
Predicted Effect probably benign
Transcript: ENSMUST00000152065
SMART Domains Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654

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 probably benign
Transcript: ENSMUST00000146261
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,712,033 (GRCm39) probably benign Het
Abcb8 T A 5: 24,611,422 (GRCm39) N470K probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
Atp5f1b T C 10: 127,919,821 (GRCm39) I63T probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cog6 T A 3: 52,916,966 (GRCm39) K184M probably damaging Het
Cpn1 A G 19: 43,956,907 (GRCm39) Y286H probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Cys1 T C 12: 24,717,169 (GRCm39) E132G possibly damaging Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Nt5c3 A T 6: 56,860,718 (GRCm39) M279K probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpl6 A G 5: 121,345,264 (GRCm39) probably benign Het
Rpn2 G T 2: 157,158,130 (GRCm39) probably null Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,703 (GRCm39) E452G probably damaging Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Traf6 T C 2: 101,515,134 (GRCm39) S97P probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D 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
IGL01735:Adcy3 APN 12 4,251,213 (GRCm39) missense probably benign 0.00
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
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 2015-12-18