Incidental Mutation 'R0551:Adcy2'
| ID |
45191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy2
|
| Ensembl Gene |
ENSMUSG00000021536 |
| Gene Name |
adenylate cyclase 2 |
| Synonyms |
|
| MMRRC Submission |
038743-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0551 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68944658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 241
(K241N)
|
| 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: K241N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: K241N
| 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 |
0.0773 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
99% (77/78) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,598 (GRCm39) |
T456S |
probably benign |
Het |
| Acmsd |
A |
T |
1: 127,694,070 (GRCm39) |
K333N |
probably benign |
Het |
| Aebp1 |
A |
G |
11: 5,817,955 (GRCm39) |
I77V |
probably benign |
Het |
| Albfm1 |
C |
T |
5: 90,720,578 (GRCm39) |
P250S |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,591,276 (GRCm39) |
T521A |
probably benign |
Het |
| Arap2 |
C |
T |
5: 62,798,666 (GRCm39) |
|
probably null |
Het |
| Arfgap3 |
A |
T |
15: 83,227,338 (GRCm39) |
C25S |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,737,125 (GRCm39) |
|
probably benign |
Het |
| Arhgap39 |
C |
T |
15: 76,619,086 (GRCm39) |
D833N |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,469,307 (GRCm39) |
E446G |
possibly damaging |
Het |
| Brwd1 |
C |
T |
16: 95,837,174 (GRCm39) |
R886H |
probably damaging |
Het |
| Carm1 |
G |
A |
9: 21,491,787 (GRCm39) |
|
probably null |
Het |
| Cdc5l |
G |
A |
17: 45,726,610 (GRCm39) |
R321W |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,860,984 (GRCm39) |
M841K |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,634,387 (GRCm39) |
T69S |
probably damaging |
Het |
| Cpox |
A |
G |
16: 58,495,753 (GRCm39) |
I357V |
probably benign |
Het |
| Diaph3 |
C |
A |
14: 87,147,536 (GRCm39) |
V711L |
probably benign |
Het |
| Fabp3-ps1 |
T |
C |
10: 86,567,904 (GRCm39) |
|
probably benign |
Het |
| Fam120b |
A |
T |
17: 15,651,905 (GRCm39) |
|
probably benign |
Het |
| Fcho1 |
A |
G |
8: 72,164,818 (GRCm39) |
S488P |
probably benign |
Het |
| Flcn |
A |
G |
11: 59,686,574 (GRCm39) |
|
probably null |
Het |
| Flt3l |
A |
G |
7: 44,781,690 (GRCm39) |
W234R |
probably damaging |
Het |
| Fzd7 |
G |
T |
1: 59,522,443 (GRCm39) |
V109L |
probably damaging |
Het |
| G3bp1 |
A |
G |
11: 55,379,969 (GRCm39) |
N101S |
probably benign |
Het |
| Gadd45g |
A |
G |
13: 52,001,963 (GRCm39) |
E143G |
probably damaging |
Het |
| Ganab |
T |
G |
19: 8,884,644 (GRCm39) |
I149S |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,906,750 (GRCm39) |
S413P |
probably damaging |
Het |
| Glis1 |
C |
T |
4: 107,425,316 (GRCm39) |
|
probably null |
Het |
| Gm11563 |
A |
G |
11: 99,549,539 (GRCm39) |
S72P |
unknown |
Het |
| Gpd1 |
T |
G |
15: 99,618,510 (GRCm39) |
I188S |
possibly damaging |
Het |
| Gria2 |
A |
G |
3: 80,639,333 (GRCm39) |
|
probably benign |
Het |
| Hpcal4 |
G |
T |
4: 123,082,848 (GRCm39) |
A65S |
possibly damaging |
Het |
| Igsf10 |
G |
A |
3: 59,236,089 (GRCm39) |
T1364I |
probably benign |
Het |
| Kdm4a |
T |
C |
4: 117,995,428 (GRCm39) |
*1065W |
probably null |
Het |
| Klkb1 |
A |
G |
8: 45,731,003 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,557,951 (GRCm39) |
D147G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
| Macroh2a2 |
A |
G |
10: 61,576,945 (GRCm39) |
S308P |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,223,734 (GRCm39) |
I207T |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,600,068 (GRCm39) |
S428T |
probably benign |
Het |
| Mfsd4a |
G |
A |
1: 131,969,657 (GRCm39) |
T348I |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,339,202 (GRCm39) |
M880V |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,977,684 (GRCm39) |
|
probably null |
Het |
| Nrdc |
T |
G |
4: 108,904,905 (GRCm39) |
I712S |
probably damaging |
Het |
| Nup210 |
G |
A |
6: 90,998,466 (GRCm39) |
R774C |
possibly damaging |
Het |
| Obscn |
G |
A |
11: 58,998,688 (GRCm39) |
R1395* |
probably null |
Het |
| Or5b102 |
T |
A |
19: 13,041,658 (GRCm39) |
D294E |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,879,336 (GRCm39) |
Y964H |
probably damaging |
Het |
| Pgap6 |
C |
A |
17: 26,339,576 (GRCm39) |
Q605K |
probably damaging |
Het |
| Plin4 |
T |
C |
17: 56,413,756 (GRCm39) |
T290A |
probably benign |
Het |
| Ppara |
T |
C |
15: 85,671,306 (GRCm39) |
|
probably benign |
Het |
| Psg21 |
T |
G |
7: 18,386,565 (GRCm39) |
|
probably null |
Het |
| Ptar1 |
C |
A |
19: 23,697,704 (GRCm39) |
N405K |
probably benign |
Het |
| Ralgps2 |
A |
G |
1: 156,660,233 (GRCm39) |
|
probably null |
Het |
| Rnf6 |
T |
A |
5: 146,148,205 (GRCm39) |
N271I |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,832,740 (GRCm39) |
D1019G |
possibly damaging |
Het |
| Slc37a3 |
A |
G |
6: 39,329,688 (GRCm39) |
|
probably benign |
Het |
| Slc49a3 |
A |
G |
5: 108,592,331 (GRCm39) |
|
probably benign |
Het |
| Slc6a12 |
G |
A |
6: 121,333,877 (GRCm39) |
V238I |
probably damaging |
Het |
| Sntg1 |
C |
A |
1: 8,624,960 (GRCm39) |
V279L |
possibly damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,300,260 (GRCm39) |
E567D |
probably damaging |
Het |
| Sp110 |
C |
A |
1: 85,516,821 (GRCm39) |
|
probably benign |
Het |
| Ssu2 |
A |
G |
6: 112,357,515 (GRCm39) |
V175A |
possibly damaging |
Het |
| Stk36 |
G |
A |
1: 74,655,780 (GRCm39) |
E428K |
probably benign |
Het |
| Teddm1b |
A |
T |
1: 153,751,090 (GRCm39) |
I300F |
possibly damaging |
Het |
| Thy1 |
T |
C |
9: 43,958,645 (GRCm39) |
V129A |
probably damaging |
Het |
| Tiam2 |
T |
A |
17: 3,479,229 (GRCm39) |
M654K |
probably damaging |
Het |
| Tmem69 |
T |
C |
4: 116,410,470 (GRCm39) |
S167G |
probably benign |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Tspan10 |
A |
G |
11: 120,335,244 (GRCm39) |
D118G |
probably damaging |
Het |
| Tspo2 |
A |
G |
17: 48,755,841 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,738,672 (GRCm39) |
Q4002* |
probably null |
Het |
| Tyro3 |
G |
A |
2: 119,647,385 (GRCm39) |
R834Q |
probably damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,943 (GRCm39) |
K139E |
probably benign |
Het |
| Vmn1r9 |
A |
T |
6: 57,048,524 (GRCm39) |
I200F |
probably benign |
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 |
|
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'- AAAATAGCTGCTGCCACCCTGC -3'
(R):5'- TGAGTCTAAAATCCAGGGAGGGACC -3'
Sequencing Primer
(F):5'- TGCCACCCTGCCATGAC -3'
(R):5'- AGCAAACCTATCGGGACACA -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation