Incidental Mutation 'R9464:Adcy2'
| ID |
715084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy2
|
| Ensembl Gene |
ENSMUSG00000021536 |
| Gene Name |
adenylate cyclase 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9464 (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 C
at 68882776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 320
(N320K)
|
| 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: N320K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: N320K
| 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: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
C |
1: 159,902,865 (GRCm39) |
F45S |
possibly damaging |
Het |
| Abca4 |
A |
G |
3: 121,913,714 (GRCm39) |
T897A |
probably benign |
Het |
| Abhd5 |
A |
T |
9: 122,208,029 (GRCm39) |
T308S |
probably benign |
Het |
| Abi2 |
G |
A |
1: 60,478,100 (GRCm39) |
|
probably null |
Het |
| Abi3bp |
C |
A |
16: 56,409,046 (GRCm39) |
T283N |
possibly damaging |
Het |
| Adcy3 |
T |
A |
12: 4,256,939 (GRCm39) |
M819K |
probably benign |
Het |
| Anapc5 |
A |
G |
5: 122,940,209 (GRCm39) |
V354A |
probably benign |
Het |
| Card14 |
A |
G |
11: 119,208,031 (GRCm39) |
I34V |
probably benign |
Het |
| Ccdc153 |
A |
T |
9: 44,157,011 (GRCm39) |
T118S |
possibly damaging |
Het |
| Champ1 |
G |
A |
8: 13,929,114 (GRCm39) |
G424D |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,376,120 (GRCm39) |
|
probably benign |
Het |
| Ctsr |
T |
A |
13: 61,307,295 (GRCm39) |
I334F |
possibly damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,823,964 (GRCm39) |
Q316H |
probably benign |
Het |
| Dnajc18 |
A |
C |
18: 35,830,166 (GRCm39) |
C80G |
probably damaging |
Het |
| Dthd1 |
G |
A |
5: 63,039,626 (GRCm39) |
R676H |
probably benign |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fancc |
T |
C |
13: 63,550,769 (GRCm39) |
K18E |
possibly damaging |
Het |
| Fbxo46 |
G |
C |
7: 18,870,791 (GRCm39) |
R470P |
probably damaging |
Het |
| Fbxw20 |
A |
C |
9: 109,050,399 (GRCm39) |
W409G |
probably damaging |
Het |
| Gcnt4 |
C |
T |
13: 97,083,493 (GRCm39) |
T263M |
probably benign |
Het |
| Gfy |
T |
C |
7: 44,827,251 (GRCm39) |
T282A |
probably benign |
Het |
| Glb1l3 |
A |
G |
9: 26,761,351 (GRCm39) |
M227T |
probably damaging |
Het |
| Gm8267 |
T |
C |
14: 44,960,346 (GRCm39) |
E133G |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,599,248 (GRCm39) |
I1556R |
possibly damaging |
Het |
| Ifnl3 |
T |
C |
7: 28,223,287 (GRCm39) |
V102A |
probably damaging |
Het |
| Kifc3 |
C |
T |
8: 95,830,622 (GRCm39) |
R548Q |
possibly damaging |
Het |
| Lonrf1 |
T |
A |
8: 36,690,024 (GRCm39) |
Q678L |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,454,497 (GRCm39) |
E1129G |
probably damaging |
Het |
| Mug2 |
C |
A |
6: 122,028,690 (GRCm39) |
D561E |
probably benign |
Het |
| Myo3a |
G |
T |
2: 22,232,383 (GRCm39) |
|
probably benign |
Het |
| N4bp1 |
A |
G |
8: 87,587,165 (GRCm39) |
V591A |
probably damaging |
Het |
| Nckap5 |
C |
T |
1: 125,952,494 (GRCm39) |
G1353R |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,937,766 (GRCm38) |
H828Q |
probably benign |
Het |
| Or52n3 |
T |
A |
7: 104,530,050 (GRCm39) |
C45* |
probably null |
Het |
| Or5k1b |
G |
T |
16: 58,581,202 (GRCm39) |
C112* |
probably null |
Het |
| Pclo |
T |
C |
5: 14,816,830 (GRCm39) |
S1297P |
|
Het |
| Pkhd1l1 |
T |
C |
15: 44,343,009 (GRCm39) |
I162T |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,591,923 (GRCm39) |
E113G |
probably damaging |
Het |
| Plekhg2 |
T |
C |
7: 28,062,297 (GRCm39) |
E541G |
probably damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,174,149 (GRCm39) |
N220D |
possibly damaging |
Het |
| Prss3l |
A |
G |
6: 41,420,486 (GRCm39) |
V80A |
probably benign |
Het |
| Psmd4 |
A |
G |
3: 94,940,735 (GRCm39) |
S343P |
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,354,406 (GRCm39) |
H4063L |
|
Het |
| Rnf40 |
T |
C |
7: 127,190,954 (GRCm39) |
V313A |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,752,680 (GRCm39) |
E1880D |
probably benign |
Het |
| Slc30a4 |
A |
T |
2: 122,527,200 (GRCm39) |
L398I |
probably damaging |
Het |
| Sp100 |
A |
T |
1: 85,624,751 (GRCm39) |
N380I |
probably damaging |
Het |
| Speer4d |
T |
G |
5: 15,828,393 (GRCm39) |
L175W |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,137,273 (GRCm39) |
I985K |
possibly damaging |
Het |
| Tesk2 |
T |
C |
4: 116,658,443 (GRCm39) |
|
probably null |
Het |
| Tgfbrap1 |
A |
G |
1: 43,114,608 (GRCm39) |
V164A |
probably damaging |
Het |
| Tlk1 |
T |
C |
2: 70,544,341 (GRCm39) |
T765A |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,345,413 (GRCm39) |
C18S |
|
Het |
| Tph2 |
A |
T |
10: 114,915,992 (GRCm39) |
C394S |
probably benign |
Het |
| Trrap |
C |
A |
5: 144,763,517 (GRCm39) |
H2470N |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,053,866 (GRCm39) |
Y771C |
probably damaging |
Het |
| Uchl3 |
T |
C |
14: 101,904,451 (GRCm39) |
F122L |
probably damaging |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn2r117 |
G |
T |
17: 23,696,578 (GRCm39) |
D276E |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,858,674 (GRCm39) |
L2708P |
probably damaging |
Het |
| Vwa3a |
T |
A |
7: 120,385,682 (GRCm39) |
S675T |
possibly damaging |
Het |
| Zfp473 |
A |
G |
7: 44,383,766 (GRCm39) |
L189P |
probably benign |
Het |
| Zfp956 |
T |
A |
6: 47,941,041 (GRCm39) |
C467S |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,377,741 (GRCm39) |
N995K |
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 |
|
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 |
|
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'- GTGCTTACATGTTAGGGCACTG -3'
(R):5'- AAAGGTTTCTGTATTTCCTGTCCAG -3'
Sequencing Primer
(F):5'- AGGGCACTGTCCTTCCTAG -3'
(R):5'- CTGTCCAGGAAATTGTATGTTTCTTC -3'
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| Posted On |
2022-06-15 |
Incidental Mutation