Incidental Mutation 'IGL03097:Adcy9'
| ID |
453233 |
| 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: 0.544)
|
| Stock # |
IGL03097 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4105393-4238362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4235930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 257
(T257A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005719]
[ENSMUST00000117801]
[ENSMUST00000120080]
|
| AlphaFold |
P51830 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005719
AA Change: T494A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: T494A
| 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 |
possibly damaging
Transcript: ENSMUST00000117801
AA Change: T494A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: T494A
| 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 |
possibly damaging
Transcript: ENSMUST00000120080
AA Change: T257A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: T257A
| 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 |
0.1433 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
90% (46/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Ahnak |
A |
G |
19: 8,979,751 (GRCm39) |
D345G |
probably benign |
Het |
| Ak5 |
A |
G |
3: 152,366,151 (GRCm39) |
|
probably null |
Het |
| Akap3 |
A |
G |
6: 126,843,379 (GRCm39) |
K666R |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,657 (GRCm39) |
N1158S |
probably benign |
Het |
| Atp23 |
A |
T |
10: 126,723,556 (GRCm39) |
V182E |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,422,462 (GRCm39) |
D898G |
probably benign |
Het |
| Bnip3 |
T |
C |
7: 138,496,208 (GRCm39) |
N140S |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,968,506 (GRCm39) |
Y1059C |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,610,118 (GRCm39) |
I796N |
probably damaging |
Het |
| Ccnb2 |
A |
G |
9: 70,316,678 (GRCm39) |
|
probably benign |
Het |
| Cd3g |
T |
A |
9: 44,882,061 (GRCm39) |
D165V |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,498,676 (GRCm39) |
T4A |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
C |
T |
6: 106,330,673 (GRCm39) |
T97M |
probably benign |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Crim1 |
C |
T |
17: 78,675,227 (GRCm39) |
T812I |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 15,995,127 (GRCm39) |
T2636K |
probably damaging |
Het |
| Cyp39a1 |
T |
A |
17: 43,993,941 (GRCm39) |
Y200* |
probably null |
Het |
| Dlg4 |
T |
G |
11: 69,933,028 (GRCm39) |
I478S |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,107,105 (GRCm39) |
N505K |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,043,049 (GRCm39) |
W323R |
probably damaging |
Het |
| Ehhadh |
T |
A |
16: 21,581,520 (GRCm39) |
I491L |
probably benign |
Het |
| Ggt6 |
T |
G |
11: 72,327,639 (GRCm39) |
H148Q |
possibly damaging |
Het |
| Gstm3 |
T |
C |
3: 107,876,117 (GRCm39) |
D25G |
probably benign |
Het |
| Gtf2h3 |
G |
A |
5: 124,740,231 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
| Hnf4g |
A |
C |
3: 3,716,674 (GRCm39) |
E281A |
probably damaging |
Het |
| Impg1 |
T |
G |
9: 80,287,234 (GRCm39) |
E404A |
possibly damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,715 (GRCm39) |
V432A |
probably benign |
Het |
| Map3k2 |
T |
G |
18: 32,333,070 (GRCm39) |
D81E |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mmp9 |
T |
A |
2: 164,792,726 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
| Ms4a1 |
G |
T |
19: 11,230,556 (GRCm39) |
T215N |
probably benign |
Het |
| Pam16 |
T |
C |
16: 4,434,458 (GRCm39) |
I111V |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,166,719 (GRCm39) |
T720A |
probably damaging |
Het |
| Pgap2 |
T |
C |
7: 101,885,434 (GRCm39) |
L100P |
probably damaging |
Het |
| Ppl |
T |
A |
16: 4,914,590 (GRCm39) |
S686C |
probably damaging |
Het |
| Rnls |
A |
G |
19: 33,115,679 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
A |
C |
9: 37,333,824 (GRCm39) |
|
probably null |
Het |
| Rptn |
G |
A |
3: 93,304,680 (GRCm39) |
G671D |
probably damaging |
Het |
| Slc6a21 |
C |
T |
7: 44,937,592 (GRCm39) |
Q628* |
probably null |
Het |
| Smg6 |
T |
G |
11: 74,823,252 (GRCm39) |
I708S |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Thap1 |
C |
G |
8: 26,652,498 (GRCm39) |
P79A |
probably benign |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
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 |
|
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 |
|
R5975:Adcy9
|
UTSW |
16 |
4,129,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- CGTACCTTTCAACTGGTCAGC -3'
(R):5'- CAAGTGTGAGAAGATCAGCACTC -3'
Sequencing Primer
(F):5'- GGTCAGCCACCACACTCTG -3'
(R):5'- CAGCACTCTGGGGGACTGTTATTAC -3'
|
| Posted On |
2017-01-31 |
Incidental Mutation