Incidental Mutation 'R7827:Adcy2'
| ID |
602277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy2
|
| Ensembl Gene |
ENSMUSG00000021536 |
| Gene Name |
adenylate cyclase 2 |
| Synonyms |
|
| MMRRC Submission |
045881-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7827 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68837400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 650
(C650S)
|
| 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: C650S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: C650S
| Domain | Start | End | E-Value | Type |
|---|
|
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
G |
3: 59,651,112 (GRCm39) |
N78S |
probably damaging |
Het |
| Abca12 |
G |
A |
1: 71,453,837 (GRCm39) |
|
probably benign |
Het |
| Abcb1b |
T |
C |
5: 8,887,747 (GRCm39) |
S878P |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,223,814 (GRCm39) |
R1305G |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,982,708 (GRCm39) |
K1331* |
probably null |
Het |
| Alpk1 |
A |
T |
3: 127,473,700 (GRCm39) |
S768T |
probably benign |
Het |
| Ap4b1 |
T |
G |
3: 103,722,398 (GRCm39) |
L124R |
probably damaging |
Het |
| Arrdc2 |
A |
T |
8: 71,292,038 (GRCm39) |
F3Y |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,547,114 (GRCm39) |
V155A |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,938,013 (GRCm39) |
S87P |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,220,421 (GRCm39) |
M697K |
probably benign |
Het |
| Ccdc42 |
G |
A |
11: 68,485,022 (GRCm39) |
V32M |
probably benign |
Het |
| Cert1 |
A |
G |
13: 96,753,563 (GRCm39) |
H391R |
probably damaging |
Het |
| Ces1d |
A |
G |
8: 93,924,294 (GRCm39) |
|
probably null |
Het |
| Dcpp2 |
T |
G |
17: 24,119,566 (GRCm39) |
Y127D |
probably damaging |
Het |
| Def8 |
C |
A |
8: 124,174,060 (GRCm39) |
T7K |
probably benign |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| En2 |
G |
A |
5: 28,371,594 (GRCm39) |
G24S |
probably benign |
Het |
| Evi2a |
T |
C |
11: 79,418,688 (GRCm39) |
|
probably benign |
Het |
| Fam117b |
A |
T |
1: 59,952,837 (GRCm39) |
H172L |
possibly damaging |
Het |
| Fam169b |
A |
G |
7: 67,954,338 (GRCm39) |
I67M |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,861 (GRCm39) |
E416D |
probably damaging |
Het |
| Gja8 |
T |
A |
3: 96,827,635 (GRCm39) |
N9I |
possibly damaging |
Het |
| Gsg1l2 |
T |
A |
11: 67,676,097 (GRCm39) |
C154S |
probably benign |
Het |
| Hdhd3 |
C |
A |
4: 62,418,232 (GRCm39) |
|
probably benign |
Het |
| Hunk |
C |
T |
16: 90,278,214 (GRCm39) |
P341L |
possibly damaging |
Het |
| Ighv8-5 |
T |
C |
12: 115,031,258 (GRCm39) |
T94A |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,331,319 (GRCm39) |
N75D |
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,409,901 (GRCm39) |
E212G |
probably damaging |
Het |
| Ldlrad4 |
A |
G |
18: 68,387,495 (GRCm39) |
H269R |
probably damaging |
Het |
| Lrrc2 |
T |
A |
9: 110,790,049 (GRCm39) |
V102E |
possibly damaging |
Het |
| Ltbp2 |
T |
A |
12: 84,836,655 (GRCm39) |
I1292L |
probably benign |
Het |
| Mad2l1bp |
A |
T |
17: 46,458,993 (GRCm39) |
V179E |
possibly damaging |
Het |
| Map3k1 |
A |
G |
13: 111,892,663 (GRCm39) |
V864A |
probably benign |
Het |
| Mapk8ip2 |
T |
G |
15: 89,342,322 (GRCm39) |
V511G |
probably damaging |
Het |
| Mknk2 |
A |
C |
10: 80,503,021 (GRCm39) |
S434A |
probably benign |
Het |
| Mllt11 |
A |
G |
3: 95,127,548 (GRCm39) |
F74S |
probably damaging |
Het |
| Muc16 |
G |
T |
9: 18,506,519 (GRCm39) |
T6412K |
possibly damaging |
Het |
| Nek5 |
C |
A |
8: 22,573,403 (GRCm39) |
A518S |
possibly damaging |
Het |
| Npy1r |
T |
C |
8: 67,156,864 (GRCm39) |
F95L |
possibly damaging |
Het |
| Nup98 |
G |
A |
7: 101,773,569 (GRCm39) |
T1586I |
probably benign |
Het |
| Olig3 |
A |
T |
10: 19,232,518 (GRCm39) |
M48L |
probably benign |
Het |
| Or13n4 |
A |
G |
7: 106,422,932 (GRCm39) |
M267T |
probably benign |
Het |
| Or14j7 |
T |
A |
17: 38,234,568 (GRCm39) |
L37* |
probably null |
Het |
| Or5b120 |
T |
G |
19: 13,480,587 (GRCm39) |
N293K |
probably damaging |
Het |
| Or6aa1 |
T |
A |
7: 86,043,765 (GRCm39) |
K314* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,904 (GRCm39) |
D288G |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,790,886 (GRCm39) |
I687V |
probably benign |
Het |
| Piezo1 |
G |
A |
8: 123,209,659 (GRCm39) |
T2348M |
probably damaging |
Het |
| Plod3 |
A |
G |
5: 137,018,835 (GRCm39) |
T291A |
probably benign |
Het |
| Pmpca |
G |
A |
2: 26,280,144 (GRCm39) |
V89I |
possibly damaging |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Pou6f2 |
C |
A |
13: 18,553,092 (GRCm39) |
A81S |
|
Het |
| Ppl |
T |
A |
16: 4,905,828 (GRCm39) |
E1489V |
probably damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,733,264 (GRCm39) |
F792S |
probably damaging |
Het |
| Pus1 |
A |
G |
5: 110,927,582 (GRCm39) |
Y58H |
probably damaging |
Het |
| Rex2 |
C |
A |
4: 147,142,547 (GRCm39) |
T345N |
possibly damaging |
Het |
| Rnf144a |
T |
C |
12: 26,389,439 (GRCm39) |
M1V |
probably null |
Het |
| Siglec15 |
A |
T |
18: 78,100,445 (GRCm39) |
C13* |
probably null |
Het |
| Skint10 |
G |
A |
4: 112,632,003 (GRCm39) |
Q6* |
probably null |
Het |
| Slc5a1 |
T |
C |
5: 33,304,057 (GRCm39) |
W291R |
probably damaging |
Het |
| Snx27 |
A |
G |
3: 94,426,366 (GRCm39) |
F378L |
probably benign |
Het |
| Strip2 |
A |
T |
6: 29,923,928 (GRCm39) |
T81S |
probably benign |
Het |
| Tas2r143 |
A |
G |
6: 42,377,656 (GRCm39) |
N162S |
probably damaging |
Het |
| Tatdn1 |
T |
C |
15: 58,776,607 (GRCm39) |
D256G |
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,089,291 (GRCm39) |
S630P |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,598,611 (GRCm39) |
D199G |
probably benign |
Het |
| Tmed8 |
C |
A |
12: 87,246,991 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttll3 |
TAA |
TAAAGCAA |
6: 113,376,123 (GRCm39) |
|
probably null |
Het |
| U2af2 |
T |
C |
7: 5,077,661 (GRCm39) |
|
probably null |
Het |
| Ywhag |
C |
T |
5: 135,940,394 (GRCm39) |
E67K |
probably damaging |
Het |
| Zfp105 |
A |
G |
9: 122,759,808 (GRCm39) |
H493R |
probably damaging |
Het |
| Zfp426 |
A |
T |
9: 20,381,446 (GRCm39) |
C514S |
probably damaging |
Het |
| Zfp536 |
T |
A |
7: 37,269,113 (GRCm39) |
D101V |
probably damaging |
Het |
|
| Other mutations in Adcy2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- GTGGTCAAATGAGTGCCTTG -3'
(R):5'- AATGGTCGCAATCCTGATTTAGTAC -3'
Sequencing Primer
(F):5'- CAAATGAGTGCCTTGGTTGCCC -3'
(R):5'- CCTGATTTAGTACACTCATAGTTGGG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation