Incidental Mutation 'R8515:Adcy3'
ID 656099
Institutional Source Beutler Lab
Gene Symbol Adcy3
Ensembl Gene ENSMUSG00000020654
Gene Name adenylate cyclase 3
Synonyms AC3, ACIII
MMRRC Submission 067847-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R8515 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 4183397-4263525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4262187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1080 (V1080A)
Ref Sequence ENSEMBL: ENSMUSP00000020984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020981] [ENSMUST00000020984] [ENSMUST00000111169] [ENSMUST00000124505] [ENSMUST00000127756] [ENSMUST00000128466] [ENSMUST00000140975] [ENSMUST00000152065]
AlphaFold Q8VHH7
Predicted Effect probably benign
Transcript: ENSMUST00000020981
SMART Domains Protein: ENSMUSP00000020981
Gene: ENSMUSG00000020652

DomainStartEndE-ValueType
Pfam:CENP-O 1 74 2.1e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000020984
AA Change: V1080A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654
AA Change: V1080A

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 damaging
Transcript: ENSMUST00000124505
AA Change: V1079A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654
AA Change: V1079A

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 damaging
Transcript: ENSMUST00000127756
AA Change: V1080A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654
AA Change: V1080A

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: ENSMUST00000128466
SMART Domains Protein: ENSMUSP00000121258
Gene: ENSMUSG00000020652

DomainStartEndE-ValueType
coiled coil region 40 75 N/A INTRINSIC
Pfam:CENP-O 119 196 7.1e-20 PFAM
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 probably benign
Transcript: ENSMUST00000146261
Predicted Effect probably damaging
Transcript: ENSMUST00000152065
AA Change: V1079A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654
AA Change: V1079A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 A G 6: 86,902,112 (GRCm39) M94V possibly damaging Het
Acss3 A G 10: 106,784,524 (GRCm39) I566T possibly damaging Het
Aldh1b1 C T 4: 45,803,818 (GRCm39) T452I probably damaging Het
Bptf A T 11: 106,946,064 (GRCm39) S2392T possibly damaging Het
Ccnb2 A G 9: 70,320,382 (GRCm39) probably null Het
Clec4a4 T A 6: 122,980,982 (GRCm39) Y72N probably benign Het
Clk4 G A 11: 51,166,088 (GRCm39) R198Q probably damaging Het
Coro2a ACCAGAAGAGCCATCCAG ACCAG 4: 46,544,117 (GRCm39) probably null Het
Ctbs T A 3: 146,164,568 (GRCm39) Y240* probably null Het
Cyp2d22 T C 15: 82,258,113 (GRCm39) D169G probably benign Het
Dnah11 C T 12: 117,939,533 (GRCm39) V3196I probably damaging Het
Fam110b T C 4: 5,799,380 (GRCm39) V266A probably benign Het
Fbxo40 A G 16: 36,791,015 (GRCm39) S32P probably damaging Het
Gm4787 T A 12: 81,424,043 (GRCm39) H705L probably benign Het
Grik1 A T 16: 87,720,170 (GRCm39) Y702* probably null Het
Hao2 A T 3: 98,790,963 (GRCm39) N70K probably benign Het
Heatr4 A G 12: 84,001,478 (GRCm39) I888T probably damaging Het
Herc4 T A 10: 63,151,565 (GRCm39) N935K probably benign Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Kif3b C T 2: 153,158,427 (GRCm39) T76M probably damaging Het
Kmo A T 1: 175,474,718 (GRCm39) H134L probably damaging Het
Lama3 C A 18: 12,544,688 (GRCm39) Q344K probably null Het
Man2a2 A T 7: 80,018,038 (GRCm39) F211I possibly damaging Het
Mmp19 T C 10: 128,631,471 (GRCm39) I189T probably benign Het
Muc4 G A 16: 32,575,629 (GRCm39) G1710S unknown Het
Myo15b G A 11: 115,749,610 (GRCm39) G127S Het
Naca T C 10: 127,880,112 (GRCm39) S1715P possibly damaging Het
Ndufs4 T C 13: 114,425,339 (GRCm39) N163S probably damaging Het
Nim1k G A 13: 120,173,986 (GRCm39) R303* probably null Het
Nkx6-3 A T 8: 23,643,707 (GRCm39) Y36F possibly damaging Het
Osbpl10 C A 9: 115,005,136 (GRCm39) Q188K probably benign Het
Pak6 G T 2: 118,520,478 (GRCm39) R156S probably benign Het
Pcf11 T A 7: 92,307,998 (GRCm39) K723N possibly damaging Het
Pcnx1 A G 12: 82,009,490 (GRCm39) Y546C possibly damaging Het
Pik3r6 A G 11: 68,430,783 (GRCm39) Y528C probably damaging Het
Ppp3cb T A 14: 20,581,844 (GRCm39) N57I probably benign Het
Preb A G 5: 31,116,722 (GRCm39) L57P probably damaging Het
Prkdc A G 16: 15,482,232 (GRCm39) D425G probably damaging Het
Rab35 G A 5: 115,781,467 (GRCm39) V90I probably damaging Het
Rab3gap2 G C 1: 184,995,017 (GRCm39) S852T probably benign Het
Rcn1 C T 2: 105,219,464 (GRCm39) R243Q probably null Het
Rom1 A G 19: 8,906,465 (GRCm39) S25P probably damaging Het
Shank3 C A 15: 89,387,775 (GRCm39) Y286* probably null Het
Sis T A 3: 72,836,742 (GRCm39) I837L probably benign Het
Ski T C 4: 155,245,083 (GRCm39) S388G possibly damaging Het
Skint1 T C 4: 111,867,921 (GRCm39) F16S probably benign Het
Slc22a21 T G 11: 53,846,904 (GRCm39) D323A possibly damaging Het
Slc40a1 G A 1: 45,951,467 (GRCm39) T230I probably damaging Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
Spata31h1 T A 10: 82,124,436 (GRCm39) D2858V probably benign Het
Spdl1 G A 11: 34,704,252 (GRCm39) T527I possibly damaging Het
Sptb A T 12: 76,658,815 (GRCm39) L1240Q probably benign Het
Tef T A 15: 81,687,037 (GRCm39) V18D possibly damaging Het
Uckl1 T C 2: 181,216,280 (GRCm39) D155G probably damaging Het
Vmn1r215 A G 13: 23,260,037 (GRCm39) I26V probably benign Het
Wac A G 18: 7,871,606 (GRCm39) M46V probably benign Het
Wbp1 C T 6: 83,096,866 (GRCm39) G146D probably damaging Het
Zfand2a A C 5: 139,459,546 (GRCm39) S147A probably benign Het
Zfhx4 A T 3: 5,464,534 (GRCm39) Y1589F probably benign Het
Zfp345 G C 2: 150,314,348 (GRCm39) D396E 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCCTATTAGCAGCCTTGTGGG -3'
(R):5'- GAGGCCTCAGTCCATGTTTC -3'

Sequencing Primer
(F):5'- TGATCGTCTGTGAGAGAGAAATTG -3'
(R):5'- CATGTTTCCTTGGCCCTGTGG -3'
Posted On 2020-10-20