Incidental Mutation 'R5975:Adcy9'
| ID |
471723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy9
|
| Ensembl Gene |
ENSMUSG00000005580 |
| Gene Name |
adenylate cyclase 9 |
| Synonyms |
ACtp10, D16Wsu65e |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R5975 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4105393-4238362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4129431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 722
(E722G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005719]
[ENSMUST00000117801]
[ENSMUST00000120080]
|
| AlphaFold |
P51830 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005719
AA Change: E722G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: E722G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
75 |
N/A |
INTRINSIC |
|
transmembrane domain
|
118 |
137 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
transmembrane domain
|
177 |
196 |
N/A |
INTRINSIC |
|
transmembrane domain
|
216 |
235 |
N/A |
INTRINSIC |
|
transmembrane domain
|
242 |
261 |
N/A |
INTRINSIC |
|
transmembrane domain
|
281 |
300 |
N/A |
INTRINSIC |
|
CYCc
|
325 |
547 |
1.69e-63 |
SMART |
|
transmembrane domain
|
791 |
813 |
N/A |
INTRINSIC |
|
transmembrane domain
|
823 |
845 |
N/A |
INTRINSIC |
|
transmembrane domain
|
858 |
880 |
N/A |
INTRINSIC |
|
transmembrane domain
|
890 |
912 |
N/A |
INTRINSIC |
|
transmembrane domain
|
977 |
996 |
N/A |
INTRINSIC |
|
CYCc
|
1023 |
1227 |
1.26e-39 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117801
AA Change: E722G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: E722G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
75 |
N/A |
INTRINSIC |
|
transmembrane domain
|
118 |
137 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
transmembrane domain
|
177 |
196 |
N/A |
INTRINSIC |
|
transmembrane domain
|
216 |
235 |
N/A |
INTRINSIC |
|
transmembrane domain
|
242 |
261 |
N/A |
INTRINSIC |
|
transmembrane domain
|
281 |
300 |
N/A |
INTRINSIC |
|
CYCc
|
325 |
547 |
1.69e-63 |
SMART |
|
transmembrane domain
|
791 |
813 |
N/A |
INTRINSIC |
|
transmembrane domain
|
823 |
845 |
N/A |
INTRINSIC |
|
transmembrane domain
|
858 |
880 |
N/A |
INTRINSIC |
|
transmembrane domain
|
890 |
912 |
N/A |
INTRINSIC |
|
transmembrane domain
|
977 |
996 |
N/A |
INTRINSIC |
|
CYCc
|
1023 |
1227 |
1.26e-39 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120080
AA Change: E485G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: E485G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
44 |
63 |
N/A |
INTRINSIC |
|
CYCc
|
88 |
310 |
1.69e-63 |
SMART |
|
transmembrane domain
|
554 |
576 |
N/A |
INTRINSIC |
|
transmembrane domain
|
586 |
608 |
N/A |
INTRINSIC |
|
transmembrane domain
|
621 |
643 |
N/A |
INTRINSIC |
|
transmembrane domain
|
653 |
675 |
N/A |
INTRINSIC |
|
transmembrane domain
|
740 |
759 |
N/A |
INTRINSIC |
|
CYCc
|
786 |
990 |
1.26e-39 |
SMART |
|
| Meta Mutation Damage Score |
0.1595 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (80/82) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene show an increased IgG1 response to ovalbumin challenge. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
T |
C |
7: 136,989,021 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
A |
T |
9: 106,321,150 (GRCm39) |
|
probably null |
Het |
| Actn2 |
T |
C |
13: 12,355,378 (GRCm39) |
N2D |
probably benign |
Het |
| Alox12 |
C |
A |
11: 70,133,609 (GRCm39) |
V572L |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,616,488 (GRCm39) |
I2434V |
possibly damaging |
Het |
| Anks1 |
T |
A |
17: 28,210,421 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
C |
T |
3: 37,023,370 (GRCm39) |
T2233I |
possibly damaging |
Het |
| Bpifa3 |
T |
A |
2: 153,978,241 (GRCm39) |
S148T |
probably damaging |
Het |
| Bptf |
C |
T |
11: 106,926,690 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,493,673 (GRCm39) |
L1655H |
probably damaging |
Het |
| Ccdc13 |
G |
T |
9: 121,656,301 (GRCm39) |
Q171K |
probably benign |
Het |
| Ccdc33 |
T |
A |
9: 58,024,761 (GRCm39) |
Q155L |
possibly damaging |
Het |
| Cckbr |
G |
A |
7: 105,119,826 (GRCm39) |
G280E |
probably benign |
Het |
| Cdk11b |
G |
A |
4: 155,732,697 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,803,239 (GRCm39) |
|
probably null |
Het |
| Cenpj |
A |
T |
14: 56,801,523 (GRCm39) |
I150N |
possibly damaging |
Het |
| Cep135 |
C |
A |
5: 76,788,737 (GRCm39) |
A1110E |
possibly damaging |
Het |
| Chit1 |
C |
A |
1: 134,074,364 (GRCm39) |
H224N |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,534,093 (GRCm39) |
R680G |
probably damaging |
Het |
| Dhx58 |
C |
A |
11: 100,593,035 (GRCm39) |
R224L |
probably damaging |
Het |
| Dlx1 |
C |
A |
2: 71,361,353 (GRCm39) |
N122K |
probably damaging |
Het |
| Dnah5 |
A |
C |
15: 28,234,428 (GRCm39) |
D279A |
probably damaging |
Het |
| Dnai4 |
G |
A |
4: 102,906,786 (GRCm39) |
P676S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,578,375 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,650,740 (GRCm39) |
W799R |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,212,566 (GRCm39) |
T675A |
probably benign |
Het |
| Farsa |
T |
A |
8: 85,591,061 (GRCm39) |
|
probably null |
Het |
| Fbxw15 |
A |
T |
9: 109,384,320 (GRCm39) |
V397D |
probably damaging |
Het |
| Fcrl5 |
G |
A |
3: 87,349,410 (GRCm39) |
V62I |
probably benign |
Het |
| Gart |
A |
G |
16: 91,421,224 (GRCm39) |
S815P |
probably damaging |
Het |
| Glrx5 |
A |
G |
12: 105,006,582 (GRCm39) |
N111S |
possibly damaging |
Het |
| Gm10845 |
A |
G |
14: 80,100,614 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9925 |
T |
A |
18: 74,198,587 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
T |
C |
6: 50,204,339 (GRCm39) |
N206S |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,872,843 (GRCm39) |
S2459G |
probably benign |
Het |
| Hnrnpul1 |
A |
G |
7: 25,453,784 (GRCm39) |
S93P |
possibly damaging |
Het |
| Ints2 |
A |
T |
11: 86,117,574 (GRCm39) |
I716N |
possibly damaging |
Het |
| Lmnb2 |
G |
A |
10: 80,740,962 (GRCm39) |
Q248* |
probably null |
Het |
| Map3k7cl |
A |
G |
16: 87,367,209 (GRCm39) |
I32V |
probably benign |
Het |
| Mfsd4b4 |
A |
T |
10: 39,768,466 (GRCm39) |
I255N |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,187,965 (GRCm39) |
I1163T |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,165,540 (GRCm39) |
T636S |
possibly damaging |
Het |
| Ntsr1 |
T |
A |
2: 180,142,581 (GRCm39) |
L124Q |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,013,445 (GRCm39) |
|
probably null |
Het |
| P4ha2 |
G |
A |
11: 54,017,238 (GRCm39) |
|
probably null |
Het |
| Pcdha9 |
T |
A |
18: 37,132,164 (GRCm39) |
V411D |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,389,384 (GRCm39) |
I1380F |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,493,983 (GRCm39) |
V106A |
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,267,517 (GRCm39) |
V818E |
possibly damaging |
Het |
| Pprc1 |
T |
G |
19: 46,053,809 (GRCm39) |
|
probably benign |
Het |
| Prb1c |
A |
G |
6: 132,339,036 (GRCm39) |
S61P |
unknown |
Het |
| Prmt9 |
T |
C |
8: 78,287,647 (GRCm39) |
|
probably benign |
Het |
| Rab26 |
T |
C |
17: 24,749,373 (GRCm39) |
N193D |
possibly damaging |
Het |
| Rnf111 |
A |
G |
9: 70,336,862 (GRCm39) |
S942P |
probably damaging |
Het |
| Scgb2b18 |
T |
C |
7: 32,872,650 (GRCm39) |
T52A |
probably damaging |
Het |
| Syt3 |
C |
T |
7: 44,042,187 (GRCm39) |
Q349* |
probably null |
Het |
| Tas2r107 |
T |
C |
6: 131,636,743 (GRCm39) |
N102S |
probably benign |
Het |
| Tas2r126 |
T |
A |
6: 42,411,934 (GRCm39) |
Y156N |
possibly damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,619,712 (GRCm39) |
I105N |
probably benign |
Het |
| Tet1 |
A |
C |
10: 62,715,552 (GRCm39) |
M81R |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,036,200 (GRCm39) |
Y897H |
probably damaging |
Het |
| Trerf1 |
A |
T |
17: 47,625,197 (GRCm39) |
|
noncoding transcript |
Het |
| Ttn |
G |
A |
2: 76,591,579 (GRCm39) |
T12703I |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,091,885 (GRCm39) |
K1735E |
possibly damaging |
Het |
| Usp54 |
G |
A |
14: 20,633,419 (GRCm39) |
T372I |
possibly damaging |
Het |
| Wdr24 |
T |
C |
17: 26,046,102 (GRCm39) |
S476P |
probably benign |
Het |
| Zbtb1 |
T |
C |
12: 76,433,049 (GRCm39) |
I345T |
possibly damaging |
Het |
| Zcrb1 |
T |
A |
15: 93,293,496 (GRCm39) |
I29L |
probably benign |
Het |
| Zfp341 |
T |
A |
2: 154,472,361 (GRCm39) |
C315S |
probably damaging |
Het |
| Zfp623 |
C |
A |
15: 75,820,012 (GRCm39) |
R323S |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,485,885 (GRCm39) |
Y187N |
possibly damaging |
Het |
|
| Other mutations in Adcy9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Adcy9
|
APN |
16 |
4,122,446 (GRCm39) |
missense |
probably benign |
|
|
IGL00326:Adcy9
|
APN |
16 |
4,112,560 (GRCm39) |
missense |
probably benign |
|
|
IGL00792:Adcy9
|
APN |
16 |
4,106,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01610:Adcy9
|
APN |
16 |
4,235,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:Adcy9
|
APN |
16 |
4,236,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02424:Adcy9
|
APN |
16 |
4,106,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03097:Adcy9
|
UTSW |
16 |
4,235,930 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4243001:Adcy9
|
UTSW |
16 |
4,236,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0043:Adcy9
|
UTSW |
16 |
4,106,879 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0085:Adcy9
|
UTSW |
16 |
4,106,088 (GRCm39) |
missense |
probably benign |
|
|
R0105:Adcy9
|
UTSW |
16 |
4,106,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Adcy9
|
UTSW |
16 |
4,106,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0371:Adcy9
|
UTSW |
16 |
4,105,911 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0613:Adcy9
|
UTSW |
16 |
4,237,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Adcy9
|
UTSW |
16 |
4,130,668 (GRCm39) |
splice site |
probably benign |
|
|
R0744:Adcy9
|
UTSW |
16 |
4,237,135 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0836:Adcy9
|
UTSW |
16 |
4,237,135 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1223:Adcy9
|
UTSW |
16 |
4,116,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1251:Adcy9
|
UTSW |
16 |
4,129,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1689:Adcy9
|
UTSW |
16 |
4,115,426 (GRCm39) |
splice site |
probably null |
|
|
R1922:Adcy9
|
UTSW |
16 |
4,129,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Adcy9
|
UTSW |
16 |
4,236,523 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1989:Adcy9
|
UTSW |
16 |
4,116,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Adcy9
|
UTSW |
16 |
4,115,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2321:Adcy9
|
UTSW |
16 |
4,106,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Adcy9
|
UTSW |
16 |
4,129,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Adcy9
|
UTSW |
16 |
4,129,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Adcy9
|
UTSW |
16 |
4,129,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Adcy9
|
UTSW |
16 |
4,129,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4065:Adcy9
|
UTSW |
16 |
4,106,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Adcy9
|
UTSW |
16 |
4,116,618 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5078:Adcy9
|
UTSW |
16 |
4,141,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5870:Adcy9
|
UTSW |
16 |
4,236,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5968:Adcy9
|
UTSW |
16 |
4,116,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6014:Adcy9
|
UTSW |
16 |
4,236,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Adcy9
|
UTSW |
16 |
4,122,377 (GRCm39) |
missense |
probably benign |
|
|
R6035:Adcy9
|
UTSW |
16 |
4,122,377 (GRCm39) |
missense |
probably benign |
|
|
R6081:Adcy9
|
UTSW |
16 |
4,112,545 (GRCm39) |
missense |
probably benign |
|
|
R6192:Adcy9
|
UTSW |
16 |
4,105,818 (GRCm39) |
missense |
probably benign |
|
|
R6604:Adcy9
|
UTSW |
16 |
4,122,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6739:Adcy9
|
UTSW |
16 |
4,236,658 (GRCm39) |
missense |
probably benign |
|
|
R6829:Adcy9
|
UTSW |
16 |
4,125,018 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6986:Adcy9
|
UTSW |
16 |
4,129,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7491:Adcy9
|
UTSW |
16 |
4,236,673 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7561:Adcy9
|
UTSW |
16 |
4,236,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7614:Adcy9
|
UTSW |
16 |
4,236,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7803:Adcy9
|
UTSW |
16 |
4,122,244 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7993:Adcy9
|
UTSW |
16 |
4,235,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Adcy9
|
UTSW |
16 |
4,106,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Adcy9
|
UTSW |
16 |
4,105,992 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8546:Adcy9
|
UTSW |
16 |
4,236,769 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8751:Adcy9
|
UTSW |
16 |
4,129,492 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9004:Adcy9
|
UTSW |
16 |
4,106,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Adcy9
|
UTSW |
16 |
4,106,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9351:Adcy9
|
UTSW |
16 |
4,236,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9491:Adcy9
|
UTSW |
16 |
4,236,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9571:Adcy9
|
UTSW |
16 |
4,141,653 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9614:Adcy9
|
UTSW |
16 |
4,106,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Adcy9
|
UTSW |
16 |
4,141,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Adcy9
|
UTSW |
16 |
4,125,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCTGTCTTCTGACTTCCAATG -3'
(R):5'- TCTGTCTTGAGGCAGGCTTC -3'
Sequencing Primer
(F):5'- TCACATGTAGGGACACAAACATG -3'
(R):5'- GCTTCTGGAGGACCCAACTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation