Incidental Mutation 'R0369:Adcy2'
ID |
30395 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy2
|
Ensembl Gene |
ENSMUSG00000021536 |
Gene Name |
adenylate cyclase 2 |
Synonyms |
|
MMRRC Submission |
038575-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0369 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 68820019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 740
(F740S)
|
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: F740S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000022013 Gene: ENSMUSG00000021536 AA Change: F740S
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: 99.0%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.0%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921528I07Rik |
G |
A |
9: 114,129,077 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl2 |
T |
A |
3: 59,932,143 (GRCm39) |
Y219* |
probably null |
Het |
Adamts13 |
C |
A |
2: 26,895,198 (GRCm39) |
D1096E |
probably benign |
Het |
Adamts16 |
T |
G |
13: 70,927,671 (GRCm39) |
K523Q |
possibly damaging |
Het |
Carmil1 |
T |
A |
13: 24,266,003 (GRCm39) |
N253I |
probably damaging |
Het |
Ccdc97 |
T |
C |
7: 25,413,833 (GRCm39) |
T283A |
probably damaging |
Het |
Cmpk2 |
G |
T |
12: 26,527,150 (GRCm39) |
E380* |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,833,543 (GRCm39) |
I911T |
probably damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,502,079 (GRCm39) |
L156P |
probably damaging |
Het |
D7Ertd443e |
T |
C |
7: 133,899,866 (GRCm39) |
I499V |
possibly damaging |
Het |
Dhx58 |
A |
C |
11: 100,592,374 (GRCm39) |
|
probably null |
Het |
Dip2a |
C |
T |
10: 76,134,621 (GRCm39) |
G390S |
probably damaging |
Het |
Dusp10 |
A |
G |
1: 183,801,253 (GRCm39) |
D340G |
probably damaging |
Het |
Epha1 |
A |
T |
6: 42,342,407 (GRCm39) |
C314S |
probably damaging |
Het |
Exph5 |
A |
T |
9: 53,284,602 (GRCm39) |
H561L |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,552,780 (GRCm39) |
|
probably null |
Het |
Foxc1 |
A |
C |
13: 31,991,495 (GRCm39) |
N102T |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,814,908 (GRCm39) |
I3547T |
probably benign |
Het |
Gm5464 |
G |
T |
14: 67,106,774 (GRCm39) |
|
probably benign |
Het |
Gnptab |
C |
T |
10: 88,269,456 (GRCm39) |
R720C |
possibly damaging |
Het |
Greb1l |
T |
C |
18: 10,469,375 (GRCm39) |
V130A |
possibly damaging |
Het |
Hmg20a |
A |
T |
9: 56,394,934 (GRCm39) |
D216V |
probably damaging |
Het |
Hnrnpul2 |
C |
A |
19: 8,801,777 (GRCm39) |
D328E |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,410,985 (GRCm39) |
Y1691C |
probably damaging |
Het |
Kremen2 |
T |
C |
17: 23,961,784 (GRCm39) |
D241G |
probably benign |
Het |
Meis2 |
T |
C |
2: 115,893,897 (GRCm39) |
D5G |
possibly damaging |
Het |
Mrps5 |
G |
A |
2: 127,433,749 (GRCm39) |
R46K |
probably benign |
Het |
Myh14 |
C |
T |
7: 44,310,374 (GRCm39) |
V170M |
probably damaging |
Het |
Nexn |
T |
C |
3: 151,953,894 (GRCm39) |
N123D |
probably benign |
Het |
Or11g26 |
T |
A |
14: 50,753,282 (GRCm39) |
M207K |
probably benign |
Het |
Or4d11 |
A |
T |
19: 12,013,765 (GRCm39) |
S114T |
probably benign |
Het |
Or51l14 |
T |
A |
7: 103,101,423 (GRCm39) |
I293N |
probably damaging |
Het |
Pacs1 |
C |
T |
19: 5,191,726 (GRCm39) |
V704M |
probably damaging |
Het |
Papolg |
A |
G |
11: 23,822,425 (GRCm39) |
|
probably null |
Het |
Pdlim3 |
T |
C |
8: 46,370,543 (GRCm39) |
V281A |
probably benign |
Het |
Plpp4 |
T |
G |
7: 128,925,190 (GRCm39) |
F142V |
probably damaging |
Het |
Prb1a |
G |
A |
6: 132,184,620 (GRCm39) |
Q338* |
probably null |
Het |
Psg26 |
G |
T |
7: 18,216,481 (GRCm39) |
Y119* |
probably null |
Het |
Ptger4 |
A |
G |
15: 5,272,491 (GRCm39) |
C68R |
probably benign |
Het |
Ptpre |
T |
A |
7: 135,272,444 (GRCm39) |
I399N |
probably damaging |
Het |
Ripply2 |
A |
G |
9: 86,898,372 (GRCm39) |
Y72C |
probably damaging |
Het |
Rp1l1 |
T |
A |
14: 64,266,837 (GRCm39) |
S808T |
possibly damaging |
Het |
Scn5a |
G |
A |
9: 119,362,838 (GRCm39) |
T594I |
probably damaging |
Het |
Sf3b1 |
T |
C |
1: 55,037,267 (GRCm39) |
D883G |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,369,220 (GRCm39) |
|
probably null |
Het |
Terf1 |
A |
G |
1: 15,889,207 (GRCm39) |
H212R |
probably damaging |
Het |
Tmco5 |
T |
G |
2: 116,711,269 (GRCm39) |
|
probably null |
Het |
Tnfaip3 |
A |
T |
10: 18,882,660 (GRCm39) |
Y252* |
probably null |
Het |
Tnrc6a |
T |
A |
7: 122,770,083 (GRCm39) |
N624K |
probably damaging |
Het |
Top3a |
C |
A |
11: 60,633,615 (GRCm39) |
R827L |
probably damaging |
Het |
Unc79 |
G |
A |
12: 103,055,031 (GRCm39) |
|
probably null |
Het |
Usp20 |
T |
C |
2: 30,901,116 (GRCm39) |
S422P |
probably benign |
Het |
Utrn |
T |
C |
10: 12,509,766 (GRCm39) |
E2402G |
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,063,734 (GRCm39) |
Q181* |
probably null |
Het |
Zfp536 |
T |
C |
7: 37,267,373 (GRCm39) |
E681G |
probably damaging |
Het |
Zfp91 |
C |
T |
19: 12,747,438 (GRCm39) |
V562I |
possibly damaging |
Het |
Zfp942 |
A |
T |
17: 22,148,017 (GRCm39) |
I204N |
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 |
|
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 |
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'- AGGCAGAAACCGTGATACTTTCCAG -3'
(R):5'- CCAGGACTGTTCACTGACTGTACAC -3'
Sequencing Primer
(F):5'- GAAACCGTGATACTTTCCAGATCTTC -3'
(R):5'- CTGTTCACTGACTGTACACAAGAAG -3'
|
Posted On |
2013-04-24 |