Incidental Mutation 'R0634:Adcy2'
ID 58171
Institutional Source Beutler Lab
Gene Symbol Adcy2
Ensembl Gene ENSMUSG00000021536
Gene Name adenylate cyclase 2
Synonyms
MMRRC Submission 038823-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0634 (G1)
Quality Score 169
Status Validated
Chromosome 13
Chromosomal Location 68768162-69147660 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 68876064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 479 (H479Q)
Ref Sequence ENSEMBL: ENSMUSP00000022013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022013]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000022013
AA Change: H479Q

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: H479Q

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
Meta Mutation Damage Score 0.0591 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
Validation Efficiency 98% (62/63)
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
Abca13 A G 11: 9,264,491 (GRCm39) I2958V possibly damaging Het
Adam21 C A 12: 81,607,126 (GRCm39) W212L probably benign Het
Adcy4 T C 14: 56,019,054 (GRCm39) R168G probably benign Het
Adrm1b C T 3: 92,336,116 (GRCm39) W125* probably null Het
Atp13a2 T C 4: 140,734,240 (GRCm39) probably benign Het
C1ra G A 6: 124,494,464 (GRCm39) E304K possibly damaging Het
Cc2d2a A C 5: 43,838,723 (GRCm39) probably benign Het
Cenpe T C 3: 134,952,588 (GRCm39) L1426P probably damaging Het
Cntn1 A T 15: 92,212,444 (GRCm39) R869* probably null Het
Creb3l2 A T 6: 37,311,283 (GRCm39) probably benign Het
Crybg2 G A 4: 133,802,615 (GRCm39) probably benign Het
Csmd1 A T 8: 16,276,405 (GRCm39) F800I probably damaging Het
Dock6 G A 9: 21,752,823 (GRCm39) T330I probably damaging Het
Ets2 G A 16: 95,517,200 (GRCm39) E311K possibly damaging Het
Fbxo22 A T 9: 55,122,244 (GRCm39) Q141L probably benign Het
Fer C T 17: 64,342,503 (GRCm39) T223M probably benign Het
Gtf3c1 A T 7: 125,256,649 (GRCm39) probably benign Het
Gtf3c2 G A 5: 31,317,150 (GRCm39) R684* probably null Het
Hs6st3 T A 14: 120,106,474 (GRCm39) L294* probably null Het
Ighg2c T G 12: 113,251,584 (GRCm39) E181A unknown Het
Igkv6-15 A T 6: 70,383,763 (GRCm39) probably benign Het
Irag2 A T 6: 145,120,354 (GRCm39) H523L probably damaging Het
Map2k6 C T 11: 110,385,169 (GRCm39) R178* probably null Het
Meikin T A 11: 54,281,309 (GRCm39) D126E probably benign Het
Mgst1 A T 6: 138,133,329 (GRCm39) T37S probably damaging Het
Mrc2 G A 11: 105,238,518 (GRCm39) V1222M probably benign Het
Myom2 C A 8: 15,169,216 (GRCm39) probably benign Het
Negr1 A G 3: 156,721,903 (GRCm39) K159R possibly damaging Het
Nptx1 T C 11: 119,434,127 (GRCm39) T320A possibly damaging Het
Or12j3 A T 7: 139,953,310 (GRCm39) V71E possibly damaging Het
Or4p21 A T 2: 88,276,961 (GRCm39) M107K probably benign Het
Or5p66 T C 7: 107,885,503 (GRCm39) I277V probably benign Het
Pes1 C T 11: 3,927,794 (GRCm39) probably benign Het
Pes1 T G 11: 3,927,795 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,187,698 (GRCm39) Y3537N probably damaging Het
Poteg G A 8: 27,963,615 (GRCm39) G289R probably benign Het
Pramel29 A G 4: 143,935,910 (GRCm39) probably null Het
Rassf5 T C 1: 131,172,693 (GRCm39) R59G probably damaging Het
Reln A T 5: 22,223,867 (GRCm39) W961R probably damaging Het
Rhot2 G A 17: 26,061,002 (GRCm39) H168Y possibly damaging Het
Ripk3 G T 14: 56,025,848 (GRCm39) probably benign Het
Samm50 A G 15: 84,098,372 (GRCm39) silent Het
Sap30bp T C 11: 115,848,229 (GRCm39) I117T probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Sipa1l2 A T 8: 126,149,363 (GRCm39) L1632* probably null Het
Sirt7 T C 11: 120,512,955 (GRCm39) probably benign Het
Smg8 T C 11: 86,976,934 (GRCm39) T216A possibly damaging Het
Sox9 A G 11: 112,675,768 (GRCm39) Y319C probably damaging Het
Sspn G A 6: 145,906,877 (GRCm39) A27T possibly damaging Het
Suco A G 1: 161,666,373 (GRCm39) V509A possibly damaging Het
Svep1 C T 4: 58,070,661 (GRCm39) C2375Y possibly damaging Het
Trbv21 T A 6: 41,179,984 (GRCm39) probably benign Het
Uimc1 C T 13: 55,208,079 (GRCm39) E455K possibly damaging Het
Upk3b A G 5: 136,068,930 (GRCm39) T100A possibly damaging Het
Usp47 A G 7: 111,707,862 (GRCm39) N1303D probably damaging Het
Vav1 A T 17: 57,610,862 (GRCm39) D476V probably benign Het
Vmn1r68 A G 7: 10,261,162 (GRCm39) V312A probably benign Het
Wdr62 A G 7: 29,969,599 (GRCm39) V287A probably damaging Het
Zcchc4 C T 5: 52,940,550 (GRCm39) P40S probably benign Het
Zfp326 T A 5: 106,034,069 (GRCm39) Y26* probably null Het
Zfp592 A G 7: 80,687,819 (GRCm39) H915R 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
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
R6642:Adcy2 UTSW 13 68,768,945 (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'- AGAGGTCACCATCATTGCTGACAAG -3'
(R):5'- GTGAGGCCACCTAGCATGATCAAC -3'

Sequencing Primer
(F):5'- CATTGCTGACAAGCATGATTTTGG -3'
(R):5'- GATCCTAAGTTCTGCCAAAGTG -3'
Posted On 2013-07-11