Incidental Mutation 'R5213:Adcy2'
| ID |
403291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy2
|
| Ensembl Gene |
ENSMUSG00000021536 |
| Gene Name |
adenylate cyclase 2 |
| Synonyms |
|
| MMRRC Submission |
042854-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5213 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 68768942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 1062
(T1062K)
|
| 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: T1062K
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: T1062K
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
A |
4: 86,303,865 (GRCm39) |
H1342N |
possibly damaging |
Het |
| Aqr |
T |
C |
2: 113,943,808 (GRCm39) |
N1110S |
probably damaging |
Het |
| Atp10a |
C |
T |
7: 58,423,731 (GRCm39) |
T232I |
probably damaging |
Het |
| Atp5pb |
T |
A |
3: 105,863,227 (GRCm39) |
K70* |
probably null |
Het |
| Atp8b4 |
A |
C |
2: 126,231,329 (GRCm39) |
|
probably null |
Het |
| Atraid |
A |
C |
5: 31,209,552 (GRCm39) |
Q72P |
probably damaging |
Het |
| Atxn2 |
G |
T |
5: 121,952,543 (GRCm39) |
|
probably null |
Het |
| Best3 |
A |
T |
10: 116,860,377 (GRCm39) |
T546S |
probably benign |
Het |
| Brd3 |
T |
C |
2: 27,353,960 (GRCm39) |
K51E |
possibly damaging |
Het |
| Brip1 |
A |
G |
11: 86,034,147 (GRCm39) |
S525P |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,387,177 (GRCm39) |
I1701T |
probably benign |
Het |
| Chrna9 |
A |
T |
5: 66,128,427 (GRCm39) |
K208* |
probably null |
Het |
| Clec2l |
T |
A |
6: 38,657,127 (GRCm39) |
C197S |
probably damaging |
Het |
| Crp |
A |
G |
1: 172,526,086 (GRCm39) |
H57R |
probably benign |
Het |
| Cyp27b1 |
C |
A |
10: 126,887,964 (GRCm39) |
T492N |
probably damaging |
Het |
| Dock4 |
A |
T |
12: 40,726,741 (GRCm39) |
I340F |
probably damaging |
Het |
| Dsg1b |
A |
T |
18: 20,528,987 (GRCm39) |
D241V |
probably damaging |
Het |
| Epg5 |
G |
T |
18: 78,058,049 (GRCm39) |
V1865L |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,819,614 (GRCm39) |
|
probably null |
Het |
| Fat2 |
C |
T |
11: 55,144,658 (GRCm39) |
C4072Y |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,034,340 (GRCm39) |
I2664N |
possibly damaging |
Het |
| Gabrp |
A |
G |
11: 33,517,211 (GRCm39) |
|
probably null |
Het |
| Glis2 |
G |
T |
16: 4,431,946 (GRCm39) |
|
probably benign |
Het |
| Gm17654 |
A |
G |
14: 43,816,559 (GRCm39) |
S15P |
probably damaging |
Het |
| Gm21836 |
A |
G |
9: 124,252,736 (GRCm39) |
V14A |
unknown |
Het |
| Gon7 |
G |
A |
12: 102,720,380 (GRCm39) |
T84I |
possibly damaging |
Het |
| Greb1 |
G |
T |
12: 16,764,791 (GRCm39) |
Y447* |
probably null |
Het |
| Grip2 |
A |
T |
6: 91,756,812 (GRCm39) |
D546E |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,849,316 (GRCm39) |
|
probably null |
Het |
| Il36a |
T |
A |
2: 24,114,486 (GRCm39) |
F120L |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,150,920 (GRCm39) |
V842A |
probably benign |
Het |
| Khsrp |
G |
A |
17: 57,331,366 (GRCm39) |
A404V |
probably benign |
Het |
| Map3k11 |
T |
C |
19: 5,740,669 (GRCm39) |
V132A |
probably damaging |
Het |
| Mcub |
A |
C |
3: 129,710,646 (GRCm39) |
F262C |
probably benign |
Het |
| Msantd5f6 |
G |
T |
4: 73,319,571 (GRCm39) |
Q302K |
probably damaging |
Het |
| Mysm1 |
A |
T |
4: 94,836,614 (GRCm39) |
V732E |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,640,673 (GRCm39) |
|
probably null |
Het |
| Or10d5 |
A |
C |
9: 39,861,389 (GRCm39) |
I226S |
probably damaging |
Het |
| Or12d12 |
T |
C |
17: 37,610,942 (GRCm39) |
I124V |
probably damaging |
Het |
| Or5k1b |
T |
C |
16: 58,580,984 (GRCm39) |
Y185C |
probably damaging |
Het |
| Oxgr1 |
G |
T |
14: 120,259,552 (GRCm39) |
Y218* |
probably null |
Het |
| Paf1 |
A |
G |
7: 28,095,397 (GRCm39) |
Q161R |
possibly damaging |
Het |
| Pck1 |
A |
T |
2: 172,997,878 (GRCm39) |
K316* |
probably null |
Het |
| Plac8 |
T |
A |
5: 100,704,371 (GRCm39) |
M109L |
probably benign |
Het |
| Plagl2 |
A |
T |
2: 153,074,239 (GRCm39) |
C221S |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,103,846 (GRCm39) |
D870G |
probably damaging |
Het |
| Polr2k |
T |
A |
15: 36,175,143 (GRCm39) |
M1K |
probably null |
Het |
| Prdm9 |
T |
C |
17: 15,775,416 (GRCm39) |
H276R |
probably damaging |
Het |
| Resf1 |
C |
A |
6: 149,227,551 (GRCm39) |
P199Q |
possibly damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,664 (GRCm39) |
I149N |
probably damaging |
Het |
| Serpina3i |
A |
G |
12: 104,231,914 (GRCm39) |
I184V |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,417,481 (GRCm39) |
E26G |
possibly damaging |
Het |
| Skil |
T |
C |
3: 31,171,600 (GRCm39) |
S575P |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,108,158 (GRCm39) |
L306P |
probably damaging |
Het |
| Slc20a1 |
G |
T |
2: 129,042,429 (GRCm39) |
W166L |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Snrnp200 |
G |
T |
2: 127,073,661 (GRCm39) |
G1353V |
probably damaging |
Het |
| Spata6l |
A |
T |
19: 28,940,964 (GRCm39) |
V50E |
probably benign |
Het |
| Sphkap |
A |
G |
1: 83,258,224 (GRCm39) |
I173T |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,743,061 (GRCm39) |
F1183I |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,529,707 (GRCm39) |
D1988G |
probably damaging |
Het |
| Tank |
T |
A |
2: 61,480,292 (GRCm39) |
I276N |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,568,401 (GRCm39) |
W652R |
probably damaging |
Het |
| Tgm2 |
G |
A |
2: 157,984,980 (GRCm39) |
T42I |
possibly damaging |
Het |
| Tnni2 |
G |
T |
7: 141,997,039 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
G |
1: 73,992,771 (GRCm39) |
S9P |
probably damaging |
Het |
| Tram1 |
T |
C |
1: 13,649,966 (GRCm39) |
Y86C |
probably damaging |
Het |
| Trdv2-1 |
T |
C |
14: 54,183,863 (GRCm39) |
S32P |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,934,010 (GRCm39) |
I651T |
probably damaging |
Het |
| Trpm3 |
T |
G |
19: 22,674,818 (GRCm39) |
Y72* |
probably null |
Het |
| Ube2o |
G |
A |
11: 116,432,285 (GRCm39) |
P894S |
possibly damaging |
Het |
| Ubr4 |
C |
T |
4: 139,129,877 (GRCm39) |
R666* |
probably null |
Het |
| Ugt1a8 |
T |
A |
1: 88,015,845 (GRCm39) |
L86* |
probably null |
Het |
| Usp32 |
T |
A |
11: 84,913,085 (GRCm39) |
N941I |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,512,504 (GRCm39) |
V2322M |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,967,136 (GRCm39) |
Y294F |
probably damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,755 (GRCm39) |
N256S |
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,888,197 (GRCm39) |
S557P |
probably damaging |
Het |
| Xrra1 |
C |
A |
7: 99,547,690 (GRCm39) |
P293Q |
possibly damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,110,388 (GRCm39) |
D79G |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,634,668 (GRCm39) |
Y347N |
probably damaging |
Het |
| Zfp740 |
T |
C |
15: 102,121,082 (GRCm39) |
C169R |
possibly 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 |
|
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'- TCACAGGAACTAGTCTGCAAGGG -3'
(R):5'- TTAGTAGCTGAGTAGTACTCCATTG -3'
Sequencing Primer
(F):5'- AACTAGTCTGCAAGGGCTCCAG -3'
(R):5'- AGTGGGCTACATTGCCTT -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation