Incidental Mutation 'R5375:Adcy3'
ID 429031
Institutional Source Beutler Lab
Gene Symbol Adcy3
Ensembl Gene ENSMUSG00000020654
Gene Name adenylate cyclase 3
Synonyms AC3, ACIII
MMRRC Submission 042951-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R5375 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 4183397-4263525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4260870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 995 (N995K)
Ref Sequence ENSEMBL: ENSMUSP00000115406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020981] [ENSMUST00000020984] [ENSMUST00000111169] [ENSMUST00000124505] [ENSMUST00000127756] [ENSMUST00000152065] [ENSMUST00000128466] [ENSMUST00000140975]
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: N995K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654
AA Change: N995K

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: N994K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654
AA Change: N994K

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: ENSMUST00000126017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127110
Predicted Effect probably damaging
Transcript: ENSMUST00000127756
AA Change: N995K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654
AA Change: N995K

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 damaging
Transcript: ENSMUST00000152065
AA Change: N994K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654
AA Change: N994K

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: ENSMUST00000146523
Predicted Effect probably benign
Transcript: ENSMUST00000146261
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh4a1 T C 4: 139,361,233 (GRCm39) M60T probably benign Het
Alpk2 A T 18: 65,505,809 (GRCm39) H70Q probably damaging Het
Babam2 T A 5: 31,859,207 (GRCm39) I5N possibly damaging Het
Blm T C 7: 80,162,977 (GRCm39) T125A probably benign Het
Bloc1s1 T C 10: 128,759,826 (GRCm39) probably benign Het
Calcr G T 6: 3,714,651 (GRCm39) Q160K probably benign Het
Ccdc43 C T 11: 102,581,058 (GRCm39) A131T probably damaging Het
Cdh15 A T 8: 123,591,839 (GRCm39) N575Y probably damaging Het
Chd8 T C 14: 52,441,611 (GRCm39) D827G probably damaging Het
Col3a1 A G 1: 45,387,059 (GRCm39) probably null Het
Creb5 A T 6: 53,658,002 (GRCm39) M255L possibly damaging Het
Cst8 A G 2: 148,646,503 (GRCm39) I78V probably benign Het
Cyld A G 8: 89,459,664 (GRCm39) E440G possibly damaging Het
Cyp2b9 A C 7: 25,887,167 (GRCm39) D192A probably damaging Het
Dclre1b C T 3: 103,711,290 (GRCm39) R207H probably damaging Het
Dnah6 A T 6: 73,100,838 (GRCm39) F1936L probably damaging Het
Dpp9 A C 17: 56,496,424 (GRCm39) Y761* probably null Het
Drc1 A T 5: 30,513,745 (GRCm39) M434L probably benign Het
Dtx3l A T 16: 35,753,397 (GRCm39) I403N probably damaging Het
Ecpas T A 4: 58,809,401 (GRCm39) K1658* probably null Het
Efcab9 A G 11: 32,477,484 (GRCm39) Y13H probably damaging Het
Efhb T A 17: 53,708,654 (GRCm39) N672I possibly damaging Het
Eif5b T C 1: 38,084,835 (GRCm39) V894A possibly damaging Het
Elovl3 T C 19: 46,123,135 (GRCm39) F237S probably benign Het
Emc1 T A 4: 139,093,802 (GRCm39) D637E probably damaging Het
Erbb2 C A 11: 98,324,238 (GRCm39) P742Q probably damaging Het
Fam234b C A 6: 135,210,355 (GRCm39) L584M probably damaging Het
Fancd2 A T 6: 113,545,673 (GRCm39) D14V possibly damaging Het
Fat2 T C 11: 55,153,646 (GRCm39) H3522R probably benign Het
Fgfr2 T C 7: 129,842,945 (GRCm39) N147D possibly damaging Het
Gm26657 A G 4: 56,741,180 (GRCm39) probably benign Het
Hcrtr1 C T 4: 130,029,518 (GRCm39) V188M probably benign Het
Herc1 T C 9: 66,375,169 (GRCm39) V3331A probably damaging Het
Hmcn2 T C 2: 31,320,453 (GRCm39) V3978A possibly damaging Het
Invs G A 4: 48,385,262 (GRCm39) R202K probably benign Het
Lgr5 C T 10: 115,314,469 (GRCm39) S156N probably benign Het
Mras T G 9: 99,276,669 (GRCm39) D67A probably damaging Het
Mrpl39 A G 16: 84,520,790 (GRCm39) L283P probably damaging Het
Ncoa6 A T 2: 155,275,915 (GRCm39) I110N probably benign Het
Neb T C 2: 52,102,596 (GRCm39) D544G possibly damaging Het
Nlrc3 A G 16: 3,782,617 (GRCm39) I264T possibly damaging Het
Or10a2 T A 7: 106,673,080 (GRCm39) M15K probably benign Het
Or1j13 A G 2: 36,369,309 (GRCm39) Y278H probably damaging Het
Or5k16 T C 16: 58,736,248 (GRCm39) Y252C possibly damaging Het
Or7g18 A G 9: 18,787,442 (GRCm39) K273R probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phf11d T C 14: 59,590,120 (GRCm39) D234G probably null Het
Polq A T 16: 36,903,146 (GRCm39) D1980V probably damaging Het
Rasa1 A T 13: 85,437,022 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec23a A G 12: 59,053,791 (GRCm39) V69A probably benign Het
Sipa1 A G 19: 5,709,640 (GRCm39) I260T probably damaging Het
Smarcc1 T A 9: 110,020,017 (GRCm39) L628H probably damaging Het
Snx31 A G 15: 36,525,730 (GRCm39) V323A probably damaging Het
Sun2 A G 15: 79,611,723 (GRCm39) S565P probably damaging Het
Tmem74 C T 15: 43,730,564 (GRCm39) D160N possibly damaging Het
Tnik T C 3: 28,648,241 (GRCm39) M431T probably benign Het
Trp53inp1 A G 4: 11,165,305 (GRCm39) T110A probably benign Het
Ttll9 G T 2: 152,826,144 (GRCm39) C118F probably benign Het
Vps4b A G 1: 106,719,422 (GRCm39) L42P probably benign Het
Xirp2 A T 2: 67,342,250 (GRCm39) N1497I probably damaging Het
Xpo4 A G 14: 57,875,764 (GRCm39) V123A probably damaging Het
Zfhx4 A T 3: 5,477,485 (GRCm39) T3367S probably damaging Het
Zfp236 T C 18: 82,615,813 (GRCm39) E1782G possibly damaging Het
Zfp35 T A 18: 24,135,973 (GRCm39) C106S possibly damaging Het
Zfpm1 A G 8: 123,062,812 (GRCm39) T624A probably benign Het
Zmiz2 C T 11: 6,347,519 (GRCm39) Q276* probably null 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
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
Predicted Primers PCR Primer
(F):5'- GGCCTTAGAAACGGGCAAAC -3'
(R):5'- GAATCACACAGCAGGCTCCATG -3'

Sequencing Primer
(F):5'- CGGGCAAACTTGATAGTGCATTC -3'
(R):5'- AGCAGCAGGGAGACTCCAC -3'
Posted On 2016-09-06