Incidental Mutation 'R6642:Adcy2'
ID 525871
Institutional Source Beutler Lab
Gene Symbol Adcy2
Ensembl Gene ENSMUSG00000021536
Gene Name adenylate cyclase 2
Synonyms
MMRRC Submission 044763-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6642 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 68768162-69147660 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 68768945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 1061 (C1061Y)
Ref Sequence ENSEMBL: ENSMUSP00000022013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022013]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022013
AA Change: C1061Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: C1061Y

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
low complexity region 60 74 N/A INTRINSIC
CYCc 239 447 6.62e-66 SMART
Pfam:DUF1053 499 604 2.6e-41 PFAM
transmembrane domain 631 653 N/A INTRINSIC
low complexity region 659 673 N/A INTRINSIC
transmembrane domain 684 706 N/A INTRINSIC
transmembrane domain 738 760 N/A INTRINSIC
transmembrane domain 767 789 N/A INTRINSIC
transmembrane domain 809 826 N/A INTRINSIC
CYCc 851 1065 5.49e-40 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,282,790 (GRCm39) V215D probably damaging Het
Ablim1 A G 19: 57,119,284 (GRCm39) S267P probably benign Het
Aip C A 19: 4,165,149 (GRCm39) C240F probably damaging Het
Aldh1a2 A T 9: 71,160,268 (GRCm39) D98V probably damaging Het
Arhgef40 T C 14: 52,228,419 (GRCm39) probably benign Het
Cplx2 G T 13: 54,526,736 (GRCm39) R48L probably damaging Het
Ctrl C T 8: 106,659,451 (GRCm39) probably null Het
Dnhd1 A G 7: 105,353,006 (GRCm39) T2720A probably benign Het
Fzd1 A G 5: 4,805,696 (GRCm39) Y629H probably damaging Het
Gins1 T C 2: 150,770,038 (GRCm39) probably null Het
Gpr149 C T 3: 62,437,995 (GRCm39) A721T probably damaging Het
Helb A T 10: 119,920,835 (GRCm39) M1036K probably benign Het
Il16 A G 7: 83,337,335 (GRCm39) F127L probably benign Het
Kctd20 A T 17: 29,180,640 (GRCm39) H138L probably damaging Het
Kctd9 T A 14: 67,962,122 (GRCm39) L55* probably null Het
Marf1 C T 16: 13,950,611 (GRCm39) R925H probably benign Het
Mbip A T 12: 56,389,191 (GRCm39) probably benign Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nod1 T G 6: 54,925,014 (GRCm39) D99A probably damaging Het
Olfm4 A G 14: 80,259,107 (GRCm39) K419E probably damaging Het
Or6c214 A T 10: 129,591,232 (GRCm39) L29Q probably damaging Het
Pik3r4 A G 9: 105,521,845 (GRCm39) D137G probably benign Het
Prdm4 T C 10: 85,743,682 (GRCm39) E191G probably benign Het
Rassf10 A T 7: 112,554,784 (GRCm39) T462S probably benign Het
Rundc3b A T 5: 8,629,071 (GRCm39) I110N probably damaging Het
Sgsm3 C T 15: 80,893,901 (GRCm39) R479C probably damaging Het
Tmc7 A T 7: 118,144,834 (GRCm39) Y575* probably null Het
Trim33 T C 3: 103,244,830 (GRCm39) L310S probably damaging Het
Trpm2 C T 10: 77,773,660 (GRCm39) R585Q probably benign Het
Ttn T C 2: 76,565,740 (GRCm39) E28204G probably damaging Het
Vmn1r233 A T 17: 21,214,002 (GRCm39) L316Q probably damaging Het
Vmn2r110 A T 17: 20,803,779 (GRCm39) N265K possibly damaging Het
Xylb A G 9: 119,196,559 (GRCm39) H114R probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Other mutations in Adcy2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Adcy2 APN 13 68,768,915 (GRCm39) missense probably damaging 1.00
IGL01074:Adcy2 APN 13 68,944,773 (GRCm39) missense possibly damaging 0.93
IGL01394:Adcy2 APN 13 69,130,521 (GRCm39) missense probably damaging 1.00
IGL01820:Adcy2 APN 13 68,886,664 (GRCm39) splice site probably null
IGL02048:Adcy2 APN 13 69,036,186 (GRCm39) missense possibly damaging 0.46
IGL02378:Adcy2 APN 13 68,878,411 (GRCm39) missense probably damaging 1.00
IGL02419:Adcy2 APN 13 69,130,482 (GRCm39) missense probably benign 0.40
IGL02896:Adcy2 APN 13 68,875,991 (GRCm39) missense probably damaging 1.00
IGL02953:Adcy2 APN 13 68,877,447 (GRCm39) missense probably damaging 1.00
IGL03358:Adcy2 APN 13 68,877,396 (GRCm39) missense probably damaging 1.00
IGL03387:Adcy2 APN 13 68,878,486 (GRCm39) missense probably damaging 1.00
PIT4305001:Adcy2 UTSW 13 68,826,721 (GRCm39) missense probably benign 0.00
PIT4366001:Adcy2 UTSW 13 68,858,109 (GRCm39) critical splice donor site probably benign
R0044:Adcy2 UTSW 13 68,876,018 (GRCm39) missense possibly damaging 0.94
R0044:Adcy2 UTSW 13 68,876,018 (GRCm39) missense possibly damaging 0.94
R0083:Adcy2 UTSW 13 68,800,054 (GRCm39) missense probably damaging 0.99
R0108:Adcy2 UTSW 13 68,800,054 (GRCm39) missense probably damaging 0.99
R0269:Adcy2 UTSW 13 68,826,725 (GRCm39) nonsense probably null
R0369:Adcy2 UTSW 13 68,820,019 (GRCm39) missense probably benign 0.00
R0480:Adcy2 UTSW 13 68,880,231 (GRCm39) missense probably damaging 1.00
R0550:Adcy2 UTSW 13 69,130,480 (GRCm39) missense probably benign 0.23
R0551:Adcy2 UTSW 13 68,944,658 (GRCm39) missense probably damaging 1.00
R0617:Adcy2 UTSW 13 68,826,725 (GRCm39) nonsense probably null
R0634:Adcy2 UTSW 13 68,876,064 (GRCm39) missense possibly damaging 0.48
R0715:Adcy2 UTSW 13 69,036,161 (GRCm39) missense probably benign 0.08
R0723:Adcy2 UTSW 13 69,147,248 (GRCm39) missense probably damaging 1.00
R1136:Adcy2 UTSW 13 68,878,436 (GRCm39) missense probably damaging 1.00
R1271:Adcy2 UTSW 13 68,790,617 (GRCm39) missense probably damaging 1.00
R1349:Adcy2 UTSW 13 68,816,652 (GRCm39) missense probably damaging 0.98
R1372:Adcy2 UTSW 13 68,816,652 (GRCm39) missense probably damaging 0.98
R1390:Adcy2 UTSW 13 68,805,512 (GRCm39) missense possibly damaging 0.94
R1495:Adcy2 UTSW 13 68,944,654 (GRCm39) missense probably benign 0.30
R1706:Adcy2 UTSW 13 68,868,865 (GRCm39) missense probably damaging 1.00
R1839:Adcy2 UTSW 13 68,837,380 (GRCm39) splice site probably null
R2004:Adcy2 UTSW 13 68,944,722 (GRCm39) missense probably damaging 1.00
R2235:Adcy2 UTSW 13 68,816,611 (GRCm39) missense probably damaging 0.98
R2242:Adcy2 UTSW 13 68,837,460 (GRCm39) missense probably benign 0.00
R2940:Adcy2 UTSW 13 68,878,424 (GRCm39) missense probably damaging 1.00
R3624:Adcy2 UTSW 13 68,790,650 (GRCm39) missense probably damaging 0.99
R3689:Adcy2 UTSW 13 68,779,088 (GRCm39) missense probably damaging 1.00
R4685:Adcy2 UTSW 13 68,876,024 (GRCm39) missense probably benign 0.32
R4695:Adcy2 UTSW 13 68,875,962 (GRCm39) missense possibly damaging 0.67
R5213:Adcy2 UTSW 13 68,768,942 (GRCm39) missense possibly damaging 0.61
R5645:Adcy2 UTSW 13 68,877,321 (GRCm39) splice site probably null
R5687:Adcy2 UTSW 13 68,790,688 (GRCm39) missense probably damaging 1.00
R5687:Adcy2 UTSW 13 68,768,938 (GRCm39) nonsense probably null
R5833:Adcy2 UTSW 13 68,886,722 (GRCm39) missense probably benign
R5846:Adcy2 UTSW 13 68,886,707 (GRCm39) missense probably damaging 0.99
R5894:Adcy2 UTSW 13 68,773,971 (GRCm39) missense probably damaging 1.00
R6111:Adcy2 UTSW 13 68,877,360 (GRCm39) missense probably damaging 0.99
R6311:Adcy2 UTSW 13 68,773,911 (GRCm39) missense probably damaging 1.00
R6644:Adcy2 UTSW 13 68,816,671 (GRCm39) missense possibly damaging 0.88
R6899:Adcy2 UTSW 13 69,130,500 (GRCm39) missense probably damaging 0.99
R6917:Adcy2 UTSW 13 68,768,876 (GRCm39) missense possibly damaging 0.68
R6950:Adcy2 UTSW 13 69,036,184 (GRCm39) missense possibly damaging 0.93
R7006:Adcy2 UTSW 13 69,036,139 (GRCm39) missense probably damaging 1.00
R7186:Adcy2 UTSW 13 68,816,758 (GRCm39) missense probably damaging 1.00
R7311:Adcy2 UTSW 13 68,779,073 (GRCm39) missense probably damaging 1.00
R7348:Adcy2 UTSW 13 68,882,794 (GRCm39) missense possibly damaging 0.79
R7440:Adcy2 UTSW 13 68,944,786 (GRCm39) missense probably damaging 0.97
R7463:Adcy2 UTSW 13 68,878,399 (GRCm39) missense probably damaging 1.00
R7827:Adcy2 UTSW 13 68,837,400 (GRCm39) missense probably damaging 1.00
R7919:Adcy2 UTSW 13 69,036,091 (GRCm39) missense probably benign 0.08
R8144:Adcy2 UTSW 13 68,882,754 (GRCm39) nonsense probably null
R8256:Adcy2 UTSW 13 68,768,880 (GRCm39) missense probably damaging 1.00
R8556:Adcy2 UTSW 13 68,779,094 (GRCm39) missense possibly damaging 0.61
R9121:Adcy2 UTSW 13 68,820,078 (GRCm39) missense probably benign 0.35
R9128:Adcy2 UTSW 13 68,773,927 (GRCm39) missense probably damaging 1.00
R9255:Adcy2 UTSW 13 69,036,199 (GRCm39) missense possibly damaging 0.93
R9464:Adcy2 UTSW 13 68,882,776 (GRCm39) missense probably damaging 1.00
R9749:Adcy2 UTSW 13 68,773,974 (GRCm39) missense probably damaging 1.00
R9799:Adcy2 UTSW 13 68,805,489 (GRCm39) missense probably damaging 1.00
R9799:Adcy2 UTSW 13 68,768,961 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GTCAGAAAGTGCGTGGTACC -3'
(R):5'- GTGACTGGGTTACCTCACTC -3'

Sequencing Primer
(F):5'- AGAAAGTGCGTGGTACCTTCCTG -3'
(R):5'- TTAGTAGCTGAGTAGTACTCCATTG -3'
Posted On 2018-06-22