Incidental Mutation 'R7186:Adcy2'
| ID |
559317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy2
|
| Ensembl Gene |
ENSMUSG00000021536 |
| Gene Name |
adenylate cyclase 2 |
| Synonyms |
|
| MMRRC Submission |
045271-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68816758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 743
(Y743H)
|
| 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: Y743H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: Y743H
| 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 |
0.8719 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
A |
11: 48,910,100 (GRCm39) |
I778F |
possibly damaging |
Het |
| Adam39 |
A |
T |
8: 41,279,349 (GRCm39) |
N580I |
probably damaging |
Het |
| Adamts20 |
A |
G |
15: 94,220,689 (GRCm39) |
S1415P |
possibly damaging |
Het |
| Aldh1a3 |
A |
G |
7: 66,055,831 (GRCm39) |
V320A |
probably damaging |
Het |
| Arid1a |
TGCCGCCGCCGCCGCCGCCGCCG |
TGCCGCCGCCGCCGCCGCCG |
4: 133,480,544 (GRCm39) |
|
|
Het |
| Art5 |
G |
T |
7: 101,746,536 (GRCm39) |
R268S |
probably benign |
Het |
| Bfar |
T |
C |
16: 13,510,371 (GRCm39) |
V238A |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
G |
A |
18: 34,770,175 (GRCm39) |
T408I |
probably damaging |
Het |
| Cdh24 |
G |
C |
14: 54,870,949 (GRCm39) |
P522A |
probably benign |
Het |
| Clk4 |
T |
C |
11: 51,159,607 (GRCm39) |
V61A |
probably benign |
Het |
| Clrn2 |
T |
C |
5: 45,611,115 (GRCm39) |
|
probably benign |
Het |
| Cyp2j8 |
T |
C |
4: 96,363,787 (GRCm39) |
D292G |
probably benign |
Het |
| Deaf1 |
T |
C |
7: 140,907,383 (GRCm39) |
E34G |
probably benign |
Het |
| Elovl7 |
A |
G |
13: 108,408,382 (GRCm39) |
E127G |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,187,252 (GRCm39) |
R235* |
probably null |
Het |
| Gbp3 |
G |
A |
3: 142,269,923 (GRCm39) |
V77M |
probably damaging |
Het |
| Gda |
A |
T |
19: 21,372,569 (GRCm39) |
F450I |
probably benign |
Het |
| Gipc1 |
A |
G |
8: 84,390,762 (GRCm39) |
E289G |
possibly damaging |
Het |
| Gm4924 |
T |
C |
10: 82,214,778 (GRCm39) |
Y859H |
unknown |
Het |
| Gpatch1 |
A |
T |
7: 34,994,738 (GRCm39) |
D509E |
possibly damaging |
Het |
| Gpbp1 |
A |
G |
13: 111,577,233 (GRCm39) |
V219A |
possibly damaging |
Het |
| Gpr107 |
A |
T |
2: 31,042,371 (GRCm39) |
M1L |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,552,034 (GRCm39) |
F1003L |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,814 (GRCm39) |
T685A |
probably benign |
Het |
| Hpse |
T |
A |
5: 100,843,395 (GRCm39) |
D259V |
probably damaging |
Het |
| Ido2 |
A |
T |
8: 25,040,826 (GRCm39) |
|
probably null |
Het |
| Ighv14-1 |
T |
C |
12: 113,895,649 (GRCm39) |
D92G |
probably damaging |
Het |
| Krt87 |
A |
T |
15: 101,385,083 (GRCm39) |
|
probably null |
Het |
| Lsp1 |
T |
C |
7: 142,044,089 (GRCm39) |
V278A |
probably damaging |
Het |
| Lurap1l |
C |
A |
4: 80,829,747 (GRCm39) |
S52R |
possibly damaging |
Het |
| Luzp2 |
A |
G |
7: 54,485,577 (GRCm39) |
|
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,009,575 (GRCm39) |
E399G |
unknown |
Het |
| Ncapd2 |
A |
G |
6: 125,163,119 (GRCm39) |
S130P |
possibly damaging |
Het |
| Nrg2 |
A |
G |
18: 36,178,973 (GRCm39) |
V321A |
probably benign |
Het |
| Nuf2 |
T |
C |
1: 169,352,954 (GRCm39) |
H17R |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,842,920 (GRCm39) |
W419R |
probably damaging |
Het |
| Or4d2b |
G |
A |
11: 87,780,591 (GRCm39) |
L44F |
possibly damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,507 (GRCm39) |
D70E |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,771,473 (GRCm39) |
R270G |
probably benign |
Het |
| Pde6a |
T |
A |
18: 61,353,678 (GRCm39) |
M1K |
probably null |
Het |
| Pknox1 |
C |
T |
17: 31,822,172 (GRCm39) |
A313V |
probably damaging |
Het |
| Ppp2ca |
T |
A |
11: 52,010,080 (GRCm39) |
N229K |
possibly damaging |
Het |
| Ptgdr |
A |
T |
14: 45,096,401 (GRCm39) |
C104S |
probably damaging |
Het |
| Ralgapa2 |
C |
A |
2: 146,230,406 (GRCm39) |
|
probably null |
Het |
| Rfx5 |
G |
T |
3: 94,865,659 (GRCm39) |
K319N |
probably benign |
Het |
| Rnase10 |
A |
T |
14: 51,247,242 (GRCm39) |
T207S |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,125,608 (GRCm39) |
T1305A |
probably benign |
Het |
| Rrp12 |
C |
A |
19: 41,859,744 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
A |
C |
14: 75,269,453 (GRCm39) |
D37A |
possibly damaging |
Het |
| Saxo5 |
T |
C |
8: 3,529,049 (GRCm39) |
F208S |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,364,567 (GRCm39) |
Y802C |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,330,715 (GRCm39) |
Y433* |
probably null |
Het |
| Sgk3 |
T |
A |
1: 9,956,227 (GRCm39) |
V331D |
probably benign |
Het |
| Sirt7 |
C |
T |
11: 120,511,311 (GRCm39) |
R280H |
probably benign |
Het |
| Snx13 |
G |
C |
12: 35,142,912 (GRCm39) |
R252S |
probably damaging |
Het |
| Stk32b |
G |
T |
5: 37,624,125 (GRCm39) |
D207E |
probably damaging |
Het |
| Sult2a7 |
C |
T |
7: 14,203,978 (GRCm39) |
V262I |
not run |
Het |
| Tcstv7b |
C |
T |
13: 120,702,587 (GRCm39) |
L128F |
probably damaging |
Het |
| Tent5b |
T |
A |
4: 133,213,518 (GRCm39) |
F130I |
probably damaging |
Het |
| Tmem33 |
G |
C |
5: 67,421,130 (GRCm39) |
V35L |
possibly damaging |
Het |
| Uba1y |
A |
G |
Y: 825,537 (GRCm39) |
I300V |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,942,060 (GRCm39) |
V344E |
probably benign |
Het |
| Usp50 |
C |
T |
2: 126,625,218 (GRCm39) |
|
probably benign |
Het |
| Vmn1r238 |
A |
C |
18: 3,122,661 (GRCm39) |
F251C |
probably damaging |
Het |
| Vmn2r74 |
A |
T |
7: 85,601,150 (GRCm39) |
Y829* |
probably null |
Het |
| Wars1 |
A |
G |
12: 108,846,982 (GRCm39) |
F141L |
probably damaging |
Het |
| Zfp879 |
A |
G |
11: 50,724,621 (GRCm39) |
V145A |
probably benign |
Het |
| Zfp934 |
A |
T |
13: 62,640,204 (GRCm39) |
V56D |
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 |
|
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'- CACCTCTGAAACAGGACCTG -3'
(R):5'- TTTCCAGTGGACTGAGATGC -3'
Sequencing Primer
(F):5'- AACAGGACCTGGCTGTATGCATC -3'
(R):5'- AGATGCAGTGTGCCAGTGTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation