Incidental Mutation 'R7440:Adcy2'
| ID |
576916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy2
|
| Ensembl Gene |
ENSMUSG00000021536 |
| Gene Name |
adenylate cyclase 2 |
| Synonyms |
|
| MMRRC Submission |
045516-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7440 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 68944786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 199
(V199M)
|
| 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: V199M
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: V199M
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (69/69) |
| 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 |
|---|
| Acadm |
G |
A |
3: 153,628,626 (GRCm39) |
T403I |
probably damaging |
Het |
| Adat1 |
A |
T |
8: 112,716,530 (GRCm39) |
M64K |
probably damaging |
Het |
| Ankrd13a |
T |
C |
5: 114,941,636 (GRCm39) |
S508P |
possibly damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,529,356 (GRCm39) |
|
probably null |
Het |
| Bicral |
C |
T |
17: 47,136,710 (GRCm39) |
G167R |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,620,174 (GRCm39) |
K727E |
possibly damaging |
Het |
| Cep350 |
T |
G |
1: 155,816,518 (GRCm39) |
K332N |
probably damaging |
Het |
| Cfap68 |
A |
G |
9: 50,676,213 (GRCm39) |
V35A |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,469,108 (GRCm39) |
N1811S |
probably benign |
Het |
| Chpf |
A |
T |
1: 75,452,245 (GRCm39) |
V565D |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,098,652 (GRCm39) |
L489H |
probably damaging |
Het |
| Cntln |
C |
A |
4: 84,981,453 (GRCm39) |
T877K |
possibly damaging |
Het |
| Cog4 |
T |
C |
8: 111,606,338 (GRCm39) |
V630A |
probably benign |
Het |
| Col6a5 |
G |
T |
9: 105,758,630 (GRCm39) |
S2192* |
probably null |
Het |
| Cry2 |
G |
A |
2: 92,243,983 (GRCm39) |
R397W |
probably damaging |
Het |
| Cstdc2 |
A |
C |
2: 148,688,911 (GRCm39) |
C109W |
probably damaging |
Het |
| Cyp1b1 |
T |
C |
17: 80,020,986 (GRCm39) |
N252S |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,356,977 (GRCm39) |
I91V |
probably benign |
Het |
| Dnajb6 |
G |
A |
5: 29,962,857 (GRCm39) |
A256T |
possibly damaging |
Het |
| Epm2a |
T |
G |
10: 11,266,619 (GRCm39) |
Y121* |
probably null |
Het |
| Erlec1 |
T |
C |
11: 30,900,818 (GRCm39) |
I117V |
possibly damaging |
Het |
| Exoc8 |
T |
C |
8: 125,622,520 (GRCm39) |
M616V |
probably benign |
Het |
| Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
| Fuz |
T |
C |
7: 44,545,996 (GRCm39) |
L46P |
probably damaging |
Het |
| Insc |
T |
C |
7: 114,444,278 (GRCm39) |
S422P |
possibly damaging |
Het |
| Intu |
A |
G |
3: 40,651,981 (GRCm39) |
I813V |
probably benign |
Het |
| Jak3 |
T |
A |
8: 72,133,362 (GRCm39) |
S352T |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,705,490 (GRCm39) |
S315P |
probably benign |
Het |
| Lrrc63 |
T |
C |
14: 75,358,453 (GRCm39) |
N400D |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,940,602 (GRCm39) |
D760G |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,349,239 (GRCm39) |
L3976* |
probably null |
Het |
| Map7 |
C |
T |
10: 20,137,605 (GRCm39) |
A259V |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,565,063 (GRCm39) |
D170E |
possibly damaging |
Het |
| Mgat5b |
T |
A |
11: 116,859,271 (GRCm39) |
Y34* |
probably null |
Het |
| Mgst1 |
A |
G |
6: 138,127,842 (GRCm39) |
K68R |
probably benign |
Het |
| Miga1 |
T |
A |
3: 152,043,683 (GRCm39) |
|
probably null |
Het |
| Mrps33 |
G |
A |
6: 39,779,413 (GRCm39) |
P94L |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,414,033 (GRCm39) |
G1068C |
possibly damaging |
Het |
| Ndufaf7 |
C |
T |
17: 79,249,546 (GRCm39) |
H148Y |
probably damaging |
Het |
| Nkx6-3 |
A |
T |
8: 23,643,770 (GRCm39) |
D57V |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,983,150 (GRCm39) |
D1272G |
probably damaging |
Het |
| Oit3 |
T |
C |
10: 59,265,392 (GRCm39) |
N291S |
probably damaging |
Het |
| Or1b1 |
A |
T |
2: 36,995,181 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Pld1 |
T |
G |
3: 28,095,419 (GRCm39) |
S251A |
probably benign |
Het |
| Polr1h |
T |
A |
17: 37,268,736 (GRCm39) |
L75F |
probably benign |
Het |
| Potefam3a |
C |
T |
8: 20,356,948 (GRCm38) |
S254N |
unknown |
Het |
| Ppfibp1 |
T |
C |
6: 146,921,001 (GRCm39) |
S580P |
probably benign |
Het |
| Prdx6b |
A |
T |
2: 80,123,560 (GRCm39) |
D123V |
probably damaging |
Het |
| Ptprs |
A |
G |
17: 56,731,256 (GRCm39) |
L1050P |
possibly damaging |
Het |
| Rcc1 |
A |
C |
4: 132,065,110 (GRCm39) |
S138A |
probably damaging |
Het |
| Rimbp3 |
G |
T |
16: 17,031,065 (GRCm39) |
R1496S |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,429,054 (GRCm39) |
V371A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,830,642 (GRCm39) |
L260P |
possibly damaging |
Het |
| Slc17a1 |
G |
A |
13: 24,062,466 (GRCm39) |
S211N |
possibly damaging |
Het |
| Slc39a11 |
C |
T |
11: 113,452,918 (GRCm39) |
V8M |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,365,012 (GRCm39) |
I78T |
probably benign |
Het |
| Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
| Syt17 |
A |
T |
7: 117,981,107 (GRCm39) |
V462E |
probably damaging |
Het |
| Tlr11 |
T |
A |
14: 50,598,801 (GRCm39) |
D262E |
probably benign |
Het |
| Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
| Trpv3 |
C |
A |
11: 73,168,800 (GRCm39) |
Q87K |
probably benign |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,281 (GRCm39) |
Y170H |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,584,296 (GRCm39) |
L562P |
probably damaging |
Het |
| Usp3 |
G |
T |
9: 66,437,537 (GRCm39) |
N299K |
probably benign |
Het |
| Vmn1r83 |
T |
C |
7: 12,055,556 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,694,539 (GRCm39) |
Y436F |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,854,981 (GRCm39) |
I2220T |
|
Het |
| Zfp936 |
T |
A |
7: 42,836,685 (GRCm39) |
V32D |
probably damaging |
Het |
| Zswim2 |
A |
G |
2: 83,751,063 (GRCm39) |
C259R |
probably 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 |
|
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 |
|
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'- TAGCTGGCATCCTAGAAATGC -3'
(R):5'- ATGCCATAGGGGATAGAATCCTAAG -3'
Sequencing Primer
(F):5'- TCCTAGAAATGCCCAAGATAGTACAG -3'
(R):5'- TCTGTTGGGTCCACAAAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation