Incidental Mutation 'R7463:Adcy2'
ID 578581
Institutional Source Beutler Lab
Gene Symbol Adcy2
Ensembl Gene ENSMUSG00000021536
Gene Name adenylate cyclase 2
Synonyms
MMRRC Submission 045537-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7463 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 68620043-68999541 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68730280 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 413 (D413G)
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: D413G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: D413G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,323,772 (GRCm38) V435E probably damaging Het
Acta2 G A 19: 34,252,531 (GRCm38) T8I probably benign Het
Adgrg6 T A 10: 14,434,396 (GRCm38) D727V possibly damaging Het
Aebp2 C T 6: 140,637,726 (GRCm38) Q309* probably null Het
Amy1 A T 3: 113,569,884 (GRCm38) C43* probably null Het
Bpifc T C 10: 85,979,334 (GRCm38) E256G probably benign Het
Bysl A T 17: 47,602,471 (GRCm38) S296T probably benign Het
Carmil3 C T 14: 55,502,396 (GRCm38) P980L probably damaging Het
Coch T A 12: 51,593,625 (GRCm38) M1K probably null Het
Cpt2 A T 4: 107,908,157 (GRCm38) F137I probably damaging Het
Crem T C 18: 3,295,094 (GRCm38) I112V probably benign Het
Cul9 A G 17: 46,520,476 (GRCm38) probably null Het
Cyp3a41a T A 5: 145,713,564 (GRCm38) I90F probably damaging Het
Cyp4f16 C T 17: 32,550,787 (GRCm38) A457V possibly damaging Het
Ddx6 A G 9: 44,628,729 (GRCm38) E318G probably damaging Het
Dip2b A G 15: 100,154,157 (GRCm38) E213G probably benign Het
Dlx5 T C 6: 6,878,316 (GRCm38) H238R probably damaging Het
Dnaic2 A C 11: 114,754,406 (GRCm38) I556L probably benign Het
Dnmt1 C T 9: 20,912,225 (GRCm38) V1147M possibly damaging Het
Egf G T 3: 129,740,015 (GRCm38) Q59K probably benign Het
Ermp1 A T 19: 29,646,262 (GRCm38) Y109* probably null Het
Fer1l6 T A 15: 58,573,601 (GRCm38) Y573* probably null Het
Fmnl1 T C 11: 103,193,128 (GRCm38) L503P probably damaging Het
Gnptab T G 10: 88,431,389 (GRCm38) I447M probably damaging Het
Hgf G A 5: 16,578,450 (GRCm38) D253N probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,266,277 (GRCm38) probably benign Het
Igf2r T C 17: 12,710,645 (GRCm38) T958A probably benign Het
Kcnd2 T A 6: 21,216,498 (GRCm38) L67Q probably damaging Het
Kif5a A G 10: 127,243,724 (GRCm38) V248A probably damaging Het
Krt33b A G 11: 100,029,563 (GRCm38) I88T probably damaging Het
Lhx2 G A 2: 38,351,846 (GRCm38) E25K possibly damaging Het
Mex3d C T 10: 80,381,698 (GRCm38) G562R Het
Myom2 A T 8: 15,117,679 (GRCm38) Y1088F probably null Het
Ncapg T A 5: 45,694,092 (GRCm38) probably null Het
Nudc A C 4: 133,534,403 (GRCm38) V190G possibly damaging Het
Obscn G T 11: 59,122,860 (GRCm38) R1054S probably benign Het
Olfr1045 T C 2: 86,197,838 (GRCm38) M305V probably benign Het
Olfr1510 A G 14: 52,410,711 (GRCm38) W54R probably benign Het
Olfr651 T C 7: 104,553,482 (GRCm38) S188P possibly damaging Het
Olfr683 T A 7: 105,143,937 (GRCm38) M119L probably benign Het
Olfr710 A T 7: 106,944,173 (GRCm38) V276E probably damaging Het
Olfr979 A G 9: 40,000,564 (GRCm38) V221A probably benign Het
Pcdh10 A T 3: 45,383,572 (GRCm38) R891S possibly damaging Het
Pcdh15 C T 10: 74,631,770 (GRCm38) S1873L possibly damaging Het
Pcdh7 A G 5: 57,720,998 (GRCm38) K632E probably benign Het
Pcdhgb8 G A 18: 37,763,427 (GRCm38) A517T probably damaging Het
Ptgr2 A T 12: 84,292,298 (GRCm38) probably benign Het
Ptpn18 G A 1: 34,473,364 (GRCm38) D417N possibly damaging Het
Racgap1 T A 15: 99,642,958 (GRCm38) T4S probably benign Het
Rb1cc1 A G 1: 6,249,180 (GRCm38) H941R probably benign Het
Reln T C 5: 22,103,435 (GRCm38) H312R probably damaging Het
Rnf166 T A 8: 122,467,987 (GRCm38) H208L probably damaging Het
Theg T C 10: 79,576,715 (GRCm38) E314G probably damaging Het
Timeless T C 10: 128,250,426 (GRCm38) S999P probably benign Het
Tmem94 G T 11: 115,786,256 (GRCm38) R118L possibly damaging Het
Tor1aip1 A T 1: 156,007,609 (GRCm38) H349Q possibly damaging Het
Ttn T A 2: 76,920,460 (GRCm38) E3415V probably benign Het
Vmn2r102 A T 17: 19,676,624 (GRCm38) N78Y probably damaging Het
Wdr11 A T 7: 129,607,086 (GRCm38) D427V probably damaging Het
Zer1 A T 2: 30,113,437 (GRCm38) probably benign Het
Zfp516 T A 18: 82,957,108 (GRCm38) M477K probably benign Het
Other mutations in Adcy2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Adcy2 APN 13 68,620,796 (GRCm38) missense probably damaging 1.00
IGL01074:Adcy2 APN 13 68,796,654 (GRCm38) missense possibly damaging 0.93
IGL01394:Adcy2 APN 13 68,982,402 (GRCm38) missense probably damaging 1.00
IGL01820:Adcy2 APN 13 68,738,545 (GRCm38) splice site probably null
IGL02048:Adcy2 APN 13 68,888,067 (GRCm38) missense possibly damaging 0.46
IGL02378:Adcy2 APN 13 68,730,292 (GRCm38) missense probably damaging 1.00
IGL02419:Adcy2 APN 13 68,982,363 (GRCm38) missense probably benign 0.40
IGL02896:Adcy2 APN 13 68,727,872 (GRCm38) missense probably damaging 1.00
IGL02953:Adcy2 APN 13 68,729,328 (GRCm38) missense probably damaging 1.00
IGL03358:Adcy2 APN 13 68,729,277 (GRCm38) missense probably damaging 1.00
IGL03387:Adcy2 APN 13 68,730,367 (GRCm38) missense probably damaging 1.00
PIT4305001:Adcy2 UTSW 13 68,678,602 (GRCm38) missense probably benign 0.00
PIT4366001:Adcy2 UTSW 13 68,709,990 (GRCm38) critical splice donor site probably benign
R0044:Adcy2 UTSW 13 68,727,899 (GRCm38) missense possibly damaging 0.94
R0044:Adcy2 UTSW 13 68,727,899 (GRCm38) missense possibly damaging 0.94
R0083:Adcy2 UTSW 13 68,651,935 (GRCm38) missense probably damaging 0.99
R0108:Adcy2 UTSW 13 68,651,935 (GRCm38) missense probably damaging 0.99
R0269:Adcy2 UTSW 13 68,678,606 (GRCm38) nonsense probably null
R0369:Adcy2 UTSW 13 68,671,900 (GRCm38) missense probably benign 0.00
R0480:Adcy2 UTSW 13 68,732,112 (GRCm38) missense probably damaging 1.00
R0550:Adcy2 UTSW 13 68,982,361 (GRCm38) missense probably benign 0.23
R0551:Adcy2 UTSW 13 68,796,539 (GRCm38) missense probably damaging 1.00
R0617:Adcy2 UTSW 13 68,678,606 (GRCm38) nonsense probably null
R0634:Adcy2 UTSW 13 68,727,945 (GRCm38) missense possibly damaging 0.48
R0715:Adcy2 UTSW 13 68,888,042 (GRCm38) missense probably benign 0.08
R0723:Adcy2 UTSW 13 68,999,129 (GRCm38) missense probably damaging 1.00
R1136:Adcy2 UTSW 13 68,730,317 (GRCm38) missense probably damaging 1.00
R1271:Adcy2 UTSW 13 68,642,498 (GRCm38) missense probably damaging 1.00
R1349:Adcy2 UTSW 13 68,668,533 (GRCm38) missense probably damaging 0.98
R1372:Adcy2 UTSW 13 68,668,533 (GRCm38) missense probably damaging 0.98
R1390:Adcy2 UTSW 13 68,657,393 (GRCm38) missense possibly damaging 0.94
R1495:Adcy2 UTSW 13 68,796,535 (GRCm38) missense probably benign 0.30
R1706:Adcy2 UTSW 13 68,720,746 (GRCm38) missense probably damaging 1.00
R1839:Adcy2 UTSW 13 68,689,261 (GRCm38) splice site probably null
R2004:Adcy2 UTSW 13 68,796,603 (GRCm38) missense probably damaging 1.00
R2235:Adcy2 UTSW 13 68,668,492 (GRCm38) missense probably damaging 0.98
R2242:Adcy2 UTSW 13 68,689,341 (GRCm38) missense probably benign 0.00
R2940:Adcy2 UTSW 13 68,730,305 (GRCm38) missense probably damaging 1.00
R3624:Adcy2 UTSW 13 68,642,531 (GRCm38) missense probably damaging 0.99
R3689:Adcy2 UTSW 13 68,630,969 (GRCm38) missense probably damaging 1.00
R4685:Adcy2 UTSW 13 68,727,905 (GRCm38) missense probably benign 0.32
R4695:Adcy2 UTSW 13 68,727,843 (GRCm38) missense possibly damaging 0.67
R5213:Adcy2 UTSW 13 68,620,823 (GRCm38) missense possibly damaging 0.61
R5645:Adcy2 UTSW 13 68,729,202 (GRCm38) splice site probably null
R5687:Adcy2 UTSW 13 68,642,569 (GRCm38) missense probably damaging 1.00
R5687:Adcy2 UTSW 13 68,620,819 (GRCm38) nonsense probably null
R5833:Adcy2 UTSW 13 68,738,603 (GRCm38) missense probably benign
R5846:Adcy2 UTSW 13 68,738,588 (GRCm38) missense probably damaging 0.99
R5894:Adcy2 UTSW 13 68,625,852 (GRCm38) missense probably damaging 1.00
R6111:Adcy2 UTSW 13 68,729,241 (GRCm38) missense probably damaging 0.99
R6311:Adcy2 UTSW 13 68,625,792 (GRCm38) missense probably damaging 1.00
R6642:Adcy2 UTSW 13 68,620,826 (GRCm38) missense probably damaging 1.00
R6644:Adcy2 UTSW 13 68,668,552 (GRCm38) missense possibly damaging 0.88
R6899:Adcy2 UTSW 13 68,982,381 (GRCm38) missense probably damaging 0.99
R6917:Adcy2 UTSW 13 68,620,757 (GRCm38) missense possibly damaging 0.68
R6950:Adcy2 UTSW 13 68,888,065 (GRCm38) missense possibly damaging 0.93
R7006:Adcy2 UTSW 13 68,888,020 (GRCm38) missense probably damaging 1.00
R7186:Adcy2 UTSW 13 68,668,639 (GRCm38) missense probably damaging 1.00
R7311:Adcy2 UTSW 13 68,630,954 (GRCm38) missense probably damaging 1.00
R7348:Adcy2 UTSW 13 68,734,675 (GRCm38) missense possibly damaging 0.79
R7440:Adcy2 UTSW 13 68,796,667 (GRCm38) missense probably damaging 0.97
R7827:Adcy2 UTSW 13 68,689,281 (GRCm38) missense probably damaging 1.00
R7919:Adcy2 UTSW 13 68,887,972 (GRCm38) missense probably benign 0.08
R8144:Adcy2 UTSW 13 68,734,635 (GRCm38) nonsense probably null
R8256:Adcy2 UTSW 13 68,620,761 (GRCm38) missense probably damaging 1.00
R8556:Adcy2 UTSW 13 68,630,975 (GRCm38) missense possibly damaging 0.61
R9121:Adcy2 UTSW 13 68,671,959 (GRCm38) missense probably benign 0.35
R9128:Adcy2 UTSW 13 68,625,808 (GRCm38) missense probably damaging 1.00
R9255:Adcy2 UTSW 13 68,888,080 (GRCm38) missense possibly damaging 0.93
R9464:Adcy2 UTSW 13 68,734,657 (GRCm38) missense probably damaging 1.00
R9749:Adcy2 UTSW 13 68,625,855 (GRCm38) missense probably damaging 1.00
R9799:Adcy2 UTSW 13 68,657,370 (GRCm38) missense probably damaging 1.00
R9799:Adcy2 UTSW 13 68,620,842 (GRCm38) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGGTCACACAGGTATCACAATTTC -3'
(R):5'- TTGCCAAAAGTCTGATGTGATCTG -3'

Sequencing Primer
(F):5'- TTCAACACAGGTAAGAGTAGTCATG -3'
(R):5'- ACACAGGGAATTTGGCCATG -3'
Posted On 2019-10-07