Incidental Mutation 'R0550:Adcy2'
ID |
45111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy2
|
Ensembl Gene |
ENSMUSG00000021536 |
Gene Name |
adenylate cyclase 2 |
Synonyms |
|
MMRRC Submission |
038742-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0550 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 69130480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 136
(S136T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022013]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022013
AA Change: S136T
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000022013 Gene: ENSMUSG00000021536 AA Change: S136T
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 |
|
Meta Mutation Damage Score |
0.0851 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
99% (76/77) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
T |
11: 110,184,666 (GRCm39) |
Y947N |
probably damaging |
Het |
Acss3 |
C |
A |
10: 106,889,332 (GRCm39) |
G163C |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,392,884 (GRCm39) |
T1367A |
probably benign |
Het |
Ahdc1 |
G |
A |
4: 132,790,348 (GRCm39) |
V530I |
probably benign |
Het |
Aldh16a1 |
C |
T |
7: 44,795,653 (GRCm39) |
|
probably null |
Het |
Ankrd36 |
T |
C |
11: 5,557,429 (GRCm39) |
|
probably null |
Het |
Aqr |
A |
C |
2: 113,963,457 (GRCm39) |
N664K |
probably damaging |
Het |
Atp6v1c1 |
T |
C |
15: 38,683,173 (GRCm39) |
|
probably benign |
Het |
Atp8b2 |
C |
T |
3: 89,866,368 (GRCm39) |
|
probably benign |
Het |
Bbx |
T |
C |
16: 50,094,896 (GRCm39) |
|
probably benign |
Het |
Bmper |
T |
A |
9: 23,285,181 (GRCm39) |
D243E |
probably benign |
Het |
Casz1 |
GCCACCACCACCACCACCACCAC |
GCCACCACCACCACCACCAC |
4: 149,036,741 (GRCm39) |
|
probably benign |
Het |
Catsperd |
T |
C |
17: 56,970,427 (GRCm39) |
|
probably null |
Het |
Ccdc92b |
T |
A |
11: 74,520,771 (GRCm39) |
|
probably null |
Het |
Cd2bp2 |
G |
T |
7: 126,792,996 (GRCm39) |
T342K |
probably damaging |
Het |
Clrn3 |
T |
A |
7: 135,130,154 (GRCm39) |
I27F |
possibly damaging |
Het |
Cnih3 |
TTGACGAG |
T |
1: 181,234,042 (GRCm39) |
|
probably null |
Het |
Cntnap3 |
T |
C |
13: 64,909,814 (GRCm39) |
T764A |
possibly damaging |
Het |
Cttnbp2 |
T |
G |
6: 18,435,308 (GRCm39) |
K183N |
possibly damaging |
Het |
Cwc27 |
G |
A |
13: 104,941,457 (GRCm39) |
P155L |
probably damaging |
Het |
Dcaf10 |
T |
C |
4: 45,372,753 (GRCm39) |
S389P |
probably benign |
Het |
Ddx18 |
T |
C |
1: 121,483,104 (GRCm39) |
K561E |
probably benign |
Het |
Dkk3 |
A |
G |
7: 111,757,452 (GRCm39) |
F51L |
probably damaging |
Het |
Dnai1 |
C |
T |
4: 41,596,274 (GRCm39) |
R20* |
probably null |
Het |
Dr1 |
G |
A |
5: 108,417,471 (GRCm39) |
G6S |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,120,954 (GRCm39) |
|
probably null |
Het |
Eif3l |
A |
G |
15: 78,961,067 (GRCm39) |
Y16C |
probably damaging |
Het |
Epb41 |
A |
G |
4: 131,702,924 (GRCm39) |
I464T |
probably damaging |
Het |
Erc2 |
A |
G |
14: 27,993,608 (GRCm39) |
K546E |
possibly damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,305,429 (GRCm39) |
D315G |
probably damaging |
Het |
Fads6 |
A |
G |
11: 115,187,503 (GRCm39) |
I64T |
probably benign |
Het |
Fshr |
T |
C |
17: 89,352,553 (GRCm39) |
N107S |
probably benign |
Het |
Gbp11 |
A |
T |
5: 105,491,616 (GRCm39) |
N60K |
probably benign |
Het |
Gm2a |
C |
T |
11: 54,994,491 (GRCm39) |
Q54* |
probably null |
Het |
Hydin |
A |
G |
8: 111,314,407 (GRCm39) |
D4297G |
probably benign |
Het |
Il6st |
G |
A |
13: 112,611,648 (GRCm39) |
|
probably null |
Het |
Inpp4b |
T |
A |
8: 82,723,966 (GRCm39) |
H499Q |
probably benign |
Het |
Kif5c |
A |
G |
2: 49,648,924 (GRCm39) |
K956R |
possibly damaging |
Het |
Krt74 |
G |
A |
15: 101,669,114 (GRCm39) |
|
noncoding transcript |
Het |
Map3k9 |
A |
T |
12: 81,772,555 (GRCm39) |
L649Q |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,730,479 (GRCm39) |
D2871G |
probably benign |
Het |
Mylk4 |
T |
C |
13: 32,900,649 (GRCm39) |
T294A |
probably benign |
Het |
Nbeal2 |
C |
T |
9: 110,471,226 (GRCm39) |
V252I |
probably benign |
Het |
Nectin3 |
A |
G |
16: 46,279,183 (GRCm39) |
I265T |
possibly damaging |
Het |
Opn1sw |
A |
T |
6: 29,380,203 (GRCm39) |
L71Q |
probably damaging |
Het |
Or4c12 |
A |
G |
2: 89,773,733 (GRCm39) |
I242T |
probably damaging |
Het |
Or52m1 |
G |
A |
7: 102,290,157 (GRCm39) |
E235K |
possibly damaging |
Het |
Or5aq6 |
G |
T |
2: 86,923,473 (GRCm39) |
H89Q |
probably benign |
Het |
Or5b97 |
A |
T |
19: 12,879,164 (GRCm39) |
|
probably null |
Het |
Or5k17 |
A |
G |
16: 58,746,748 (GRCm39) |
F62S |
probably damaging |
Het |
Or8b46 |
T |
A |
9: 38,450,676 (GRCm39) |
C162S |
probably damaging |
Het |
Or8k27 |
A |
T |
2: 86,276,220 (GRCm39) |
Y35* |
probably null |
Het |
Pced1a |
G |
A |
2: 130,261,553 (GRCm39) |
P367S |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,417,447 (GRCm39) |
M2568K |
probably null |
Het |
Pla2r1 |
A |
G |
2: 60,255,694 (GRCm39) |
|
probably null |
Het |
Plpp1 |
T |
C |
13: 112,971,519 (GRCm39) |
I62T |
probably benign |
Het |
Polr3g |
G |
A |
13: 81,842,892 (GRCm39) |
T41I |
probably damaging |
Het |
Ptch2 |
T |
C |
4: 116,953,630 (GRCm39) |
|
probably benign |
Het |
Sema4g |
A |
T |
19: 44,986,104 (GRCm39) |
H315L |
probably benign |
Het |
Setd1b |
G |
T |
5: 123,295,723 (GRCm39) |
S1097I |
unknown |
Het |
Sfxn4 |
A |
G |
19: 60,839,383 (GRCm39) |
|
probably benign |
Het |
Sh3tc1 |
T |
C |
5: 35,857,128 (GRCm39) |
E1237G |
probably damaging |
Het |
Slc25a38 |
A |
T |
9: 119,952,709 (GRCm39) |
N287I |
probably benign |
Het |
Slc25a48 |
A |
G |
13: 56,596,811 (GRCm39) |
T31A |
probably benign |
Het |
Slc6a12 |
G |
A |
6: 121,333,877 (GRCm39) |
V238I |
probably damaging |
Het |
Slc8b1 |
A |
G |
5: 120,669,220 (GRCm39) |
|
probably benign |
Het |
Slco4c1 |
A |
C |
1: 96,795,584 (GRCm39) |
V158G |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,063,803 (GRCm39) |
T2208A |
probably benign |
Het |
Srebf1 |
G |
A |
11: 60,092,502 (GRCm39) |
T843I |
probably benign |
Het |
Srl |
A |
G |
16: 4,305,429 (GRCm39) |
W101R |
probably damaging |
Het |
St6galnac4 |
T |
A |
2: 32,484,031 (GRCm39) |
C76* |
probably null |
Het |
Tdrd3 |
C |
A |
14: 87,723,656 (GRCm39) |
T290K |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,965,176 (GRCm39) |
E1547G |
probably damaging |
Het |
Ubn1 |
A |
G |
16: 4,880,484 (GRCm39) |
|
probably null |
Het |
Usp10 |
T |
A |
8: 120,674,540 (GRCm39) |
I456K |
probably damaging |
Het |
Usp6nl |
A |
G |
2: 6,405,134 (GRCm39) |
|
probably benign |
Het |
Vit |
T |
A |
17: 78,932,222 (GRCm39) |
V443E |
possibly damaging |
Het |
Whamm |
G |
A |
7: 81,235,972 (GRCm39) |
V392I |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,465,554 (GRCm39) |
K1904R |
probably damaging |
Het |
Zfp352 |
A |
T |
4: 90,112,927 (GRCm39) |
T356S |
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 |
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 |
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'- TCAAATGACTTTCTTCTTTGTGCCTGGA -3'
(R):5'- TTTAATAACCGTTCCCACTGCCCTG -3'
Sequencing Primer
(F):5'- gagaggaagaaacaggcgg -3'
(R):5'- GGCCATCTTCTTCGCCATATTC -3'
|
Posted On |
2013-06-11 |