Incidental Mutation 'IGL02376:Adcy3'
ID291114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adcy3
Ensembl Gene ENSMUSG00000020654
Gene Nameadenylate cyclase 3
SynonymsAC3
Accession Numbers

Ncbi RefSeq: NM_138305.3, NM_001159536.1, NM_001159537.1; MGI:99675

Is this an essential gene? Probably essential (E-score: 0.821) question?
Stock #IGL02376
Quality Score
Status
Chromosome12
Chromosomal Location4133103-4213525 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 4201031 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 597 (E597K)
Ref Sequence ENSEMBL: ENSMUSP00000115644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020984] [ENSMUST00000111169] [ENSMUST00000124505] [ENSMUST00000127756] [ENSMUST00000152065]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020984
AA Change: E597K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654
AA Change: E597K

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 possibly damaging
Transcript: ENSMUST00000124505
AA Change: E597K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654
AA Change: E597K

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 possibly damaging
Transcript: ENSMUST00000127756
AA Change: E597K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654
AA Change: E597K

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 noncoding transcript
Transcript: ENSMUST00000150944
Predicted Effect possibly damaging
Transcript: ENSMUST00000152065
AA Change: E597K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654
AA Change: E597K

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
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 2661086; 3604495
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A G 10: 77,984,554 probably benign Het
2700081O15Rik C T 19: 7,422,376 P496L probably damaging Het
Abtb1 A G 6: 88,838,484 probably benign Het
Adcy9 A G 16: 4,418,680 V289A probably benign Het
Akr1d1 A T 6: 37,530,285 D14V probably damaging Het
Ankrd12 T C 17: 66,042,529 probably benign Het
Arap3 T C 18: 37,978,453 T1137A possibly damaging Het
Arhgef4 A T 1: 34,806,059 Q77L probably damaging Het
Arhgef7 A G 8: 11,817,735 T444A probably damaging Het
Arr3 A C X: 100,614,675 K281Q probably damaging Het
Arrdc2 A T 8: 70,838,979 I114N probably benign Het
Atg2b A T 12: 105,645,468 F1217Y probably damaging Het
C1qtnf1 A C 11: 118,448,068 Y188S probably benign Het
Cbx6 C A 15: 79,828,299 R309L probably benign Het
Chrna9 T C 5: 65,971,159 S237P probably damaging Het
Dapk1 G A 13: 60,696,394 V76I probably benign Het
Elk4 T A 1: 132,014,550 N53K probably benign Het
Epha7 A C 4: 28,951,287 T799P probably damaging Het
Exosc2 G A 2: 31,679,875 V233M possibly damaging Het
Fam217b A G 2: 178,417,573 D3G probably benign Het
Farp1 T A 14: 121,272,856 N755K probably damaging Het
Fer A G 17: 63,934,346 E327G possibly damaging Het
Fmnl3 A T 15: 99,318,963 F1017Y possibly damaging Het
Gabbr2 A C 4: 46,684,300 I658S probably damaging Het
Gemin2 A G 12: 59,021,720 D195G probably benign Het
Gtf3c1 T A 7: 125,668,996 Y875F probably benign Het
Hnrnpr G A 4: 136,319,455 G149D probably damaging Het
Krt74 A C 15: 101,754,503 noncoding transcript Het
Ltf A G 9: 111,029,624 D480G probably benign Het
Map1b A G 13: 99,435,595 L206P probably damaging Het
Meis1 T C 11: 18,881,752 M429V probably benign Het
Myh4 C A 11: 67,245,728 T444N probably benign Het
Nckap1l A T 15: 103,471,231 Y315F possibly damaging Het
Ndst3 A G 3: 123,556,798 I646T probably damaging Het
Ndufv1 T C 19: 4,007,823 probably null Het
Ogdhl T C 14: 32,343,318 Y710H probably damaging Het
Olfr1263 A G 2: 90,015,460 I177V probably benign Het
Otud7b A G 3: 96,155,037 K531R possibly damaging Het
Pax3 T C 1: 78,132,292 Y243C probably damaging Het
Pde1a A G 2: 79,875,223 Het
Pik3cb C T 9: 99,052,352 M813I probably benign Het
Prss42 A T 9: 110,803,107 D302V possibly damaging Het
Rad52 T C 6: 119,915,230 Het
Reln A T 5: 22,080,791 Y393* probably null Het
Rhbdd3 T C 11: 5,103,192 probably benign Het
Sbf2 C T 7: 110,462,956 G138D probably damaging Het
Slco1a1 A T 6: 141,924,334 probably null Het
Smg9 A G 7: 24,415,030 I265V probably benign Het
Sppl2b G T 10: 80,867,598 E565* probably null Het
Stx6 T A 1: 155,201,979 V244D probably benign Het
Tle4 T C 19: 14,594,404 N78D probably damaging Het
Tmcc3 A G 10: 94,578,567 I44V possibly damaging Het
Tnnt3 C T 7: 142,512,558 T220I possibly damaging Het
Ttn A T 2: 76,727,467 D29798E possibly damaging Het
Vtcn1 A T 3: 100,892,665 M281L probably benign Het
Zfp595 T C 13: 67,316,450 K586R possibly damaging Het
Other mutations in Adcy3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Adcy3 APN 12 4194357 missense probably damaging 1.00
IGL00985:Adcy3 APN 12 4134600 missense probably damaging 0.98
IGL01735:Adcy3 APN 12 4201213 missense probably benign 0.00
IGL02097:Adcy3 APN 12 4212118 missense probably damaging 1.00
IGL02102:Adcy3 APN 12 4134699 missense probably damaging 1.00
IGL02103:Adcy3 APN 12 4134390 missense possibly damaging 0.69
IGL02155:Adcy3 APN 12 4212142 nonsense probably null
IGL02411:Adcy3 APN 12 4209407 unclassified probably null
IGL02465:Adcy3 APN 12 4200906 missense probably benign 0.10
IGL02819:Adcy3 APN 12 4206986 splice site probably benign
magnificent_frigatebird UTSW 12 4194324 missense
R0015:Adcy3 UTSW 12 4195260 critical splice donor site probably null
R0015:Adcy3 UTSW 12 4195260 critical splice donor site probably null
R0918:Adcy3 UTSW 12 4198360 missense probably benign 0.05
R1480:Adcy3 UTSW 12 4212171 missense probably damaging 1.00
R1736:Adcy3 UTSW 12 4200998 missense possibly damaging 0.87
R1885:Adcy3 UTSW 12 4134951 missense probably damaging 1.00
R1897:Adcy3 UTSW 12 4173450 splice site probably benign
R1951:Adcy3 UTSW 12 4208624 missense probably benign 0.29
R2083:Adcy3 UTSW 12 4173512 missense probably damaging 1.00
R2417:Adcy3 UTSW 12 4208627 missense probably benign 0.05
R4379:Adcy3 UTSW 12 4134558 missense probably damaging 1.00
R4785:Adcy3 UTSW 12 4206542 missense probably benign 0.00
R4960:Adcy3 UTSW 12 4134896 missense probably benign 0.11
R5001:Adcy3 UTSW 12 4198434 missense possibly damaging 0.56
R5166:Adcy3 UTSW 12 4134438 missense probably damaging 1.00
R5375:Adcy3 UTSW 12 4210870 missense probably damaging 1.00
R5416:Adcy3 UTSW 12 4209308 missense probably damaging 1.00
R5998:Adcy3 UTSW 12 4198348 missense probably damaging 1.00
R6248:Adcy3 UTSW 12 4208662 critical splice donor site probably null
R6490:Adcy3 UTSW 12 4212150 missense probably damaging 1.00
R6566:Adcy3 UTSW 12 4194324 missense probably damaging 1.00
Posted On2015-04-16