Incidental Mutation 'R1689:Adcy9'
| ID |
189601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy9
|
| Ensembl Gene |
ENSMUSG00000005580 |
| Gene Name |
adenylate cyclase 9 |
| Synonyms |
ACtp10, D16Wsu65e |
| MMRRC Submission |
039722-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R1689 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4105393-4238362 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 4115426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005719]
[ENSMUST00000117801]
[ENSMUST00000120080]
|
| AlphaFold |
P51830 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005719
|
| SMART Domains |
Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
| 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 null
Transcript: ENSMUST00000117801
|
| SMART Domains |
Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
| 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 null
Transcript: ENSMUST00000120080
|
| SMART Domains |
Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,769,827 (GRCm39) |
K896R |
probably benign |
Het |
| Adgre1 |
T |
C |
17: 57,756,921 (GRCm39) |
F726S |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,595,948 (GRCm39) |
S148T |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Ammecr1l |
C |
A |
18: 31,913,741 (GRCm39) |
A289D |
probably benign |
Het |
| Amotl1 |
T |
C |
9: 14,504,518 (GRCm39) |
Y230C |
probably damaging |
Het |
| Armc6 |
A |
T |
8: 70,682,187 (GRCm39) |
S65R |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,084,575 (GRCm39) |
Y1440* |
probably null |
Het |
| Atf6b |
T |
A |
17: 34,869,276 (GRCm39) |
D164E |
probably damaging |
Het |
| B4galt6 |
C |
T |
18: 20,839,553 (GRCm39) |
S127N |
probably benign |
Het |
| Bcl11a |
A |
T |
11: 24,113,167 (GRCm39) |
Y170F |
probably damaging |
Het |
| Bcl11a |
A |
T |
11: 24,114,406 (GRCm39) |
D583V |
possibly damaging |
Het |
| Btnl1 |
T |
A |
17: 34,600,182 (GRCm39) |
Y228* |
probably null |
Het |
| Cav2 |
A |
G |
6: 17,281,421 (GRCm39) |
H21R |
probably benign |
Het |
| Celsr2 |
T |
A |
3: 108,314,620 (GRCm39) |
D1135V |
possibly damaging |
Het |
| Cntnap1 |
A |
C |
11: 101,079,699 (GRCm39) |
|
probably null |
Het |
| Cysltr2 |
T |
C |
14: 73,267,470 (GRCm39) |
D80G |
possibly damaging |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dgkh |
A |
T |
14: 78,855,984 (GRCm39) |
M363K |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,797,194 (GRCm39) |
V1112M |
probably damaging |
Het |
| Entpd7 |
A |
G |
19: 43,713,915 (GRCm39) |
T425A |
probably damaging |
Het |
| Ephx2 |
T |
A |
14: 66,324,475 (GRCm39) |
K373* |
probably null |
Het |
| F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,750,862 (GRCm39) |
I482L |
probably damaging |
Het |
| Fbxw8 |
T |
C |
5: 118,215,682 (GRCm39) |
S443G |
probably damaging |
Het |
| Fdft1 |
T |
C |
14: 63,394,138 (GRCm39) |
E191G |
probably benign |
Het |
| Fgd2 |
A |
G |
17: 29,582,696 (GRCm39) |
E26G |
probably benign |
Het |
| Gabra4 |
T |
C |
5: 71,790,885 (GRCm39) |
|
probably null |
Het |
| Gc |
A |
G |
5: 89,589,059 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
A |
13: 12,439,506 (GRCm39) |
D1361E |
probably benign |
Het |
| Hid1 |
A |
G |
11: 115,251,183 (GRCm39) |
F118L |
probably damaging |
Het |
| Igsf8 |
G |
T |
1: 172,146,504 (GRCm39) |
G564W |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,313,744 (GRCm39) |
V4A |
probably benign |
Het |
| Irak3 |
T |
C |
10: 119,982,457 (GRCm39) |
E335G |
probably damaging |
Het |
| Itgb8 |
T |
G |
12: 119,134,555 (GRCm39) |
Q504P |
probably benign |
Het |
| Kbtbd12 |
A |
T |
6: 88,595,567 (GRCm39) |
Y88N |
probably damaging |
Het |
| Klk1b5 |
T |
C |
7: 43,869,969 (GRCm39) |
I226T |
probably damaging |
Het |
| L3hypdh |
A |
T |
12: 72,131,527 (GRCm39) |
I135N |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,333,873 (GRCm39) |
T1456K |
probably benign |
Het |
| Mrgprd |
C |
A |
7: 144,875,454 (GRCm39) |
Y108* |
probably null |
Het |
| Muc6 |
C |
T |
7: 141,234,265 (GRCm39) |
G742D |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,522,666 (GRCm39) |
I1572F |
probably damaging |
Het |
| Nceh1 |
A |
G |
3: 27,280,231 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or14j1 |
T |
C |
17: 38,146,495 (GRCm39) |
S202P |
possibly damaging |
Het |
| Or1ak2 |
A |
G |
2: 36,827,989 (GRCm39) |
N286S |
probably damaging |
Het |
| Or7d11 |
A |
T |
9: 19,966,422 (GRCm39) |
N112K |
possibly damaging |
Het |
| Pacs1 |
G |
T |
19: 5,322,643 (GRCm39) |
|
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,784,968 (GRCm39) |
L14P |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,408,688 (GRCm39) |
G176D |
probably damaging |
Het |
| Pramel17 |
T |
A |
4: 101,694,376 (GRCm39) |
K169I |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 130,345,412 (GRCm39) |
F5L |
probably benign |
Het |
| Qrfprl |
A |
G |
6: 65,358,591 (GRCm39) |
N105S |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,552 (GRCm39) |
L2114P |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Senp2 |
T |
A |
16: 21,845,416 (GRCm39) |
Y217N |
probably damaging |
Het |
| Sned1 |
C |
T |
1: 93,211,094 (GRCm39) |
R1061C |
probably damaging |
Het |
| Spag16 |
C |
T |
1: 70,500,277 (GRCm39) |
T535I |
probably benign |
Het |
| Supt20 |
T |
A |
3: 54,619,583 (GRCm39) |
L355* |
probably null |
Het |
| Tmem132b |
A |
G |
5: 125,864,678 (GRCm39) |
H928R |
possibly damaging |
Het |
| Tpo |
A |
T |
12: 30,148,245 (GRCm39) |
L552H |
probably damaging |
Het |
| Tsfm |
A |
T |
10: 126,864,324 (GRCm39) |
N130K |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,383,418 (GRCm39) |
|
probably null |
Het |
| Vsig10 |
A |
G |
5: 117,490,825 (GRCm39) |
D544G |
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,114,792 (GRCm39) |
T433I |
possibly damaging |
Het |
| Wdr81 |
A |
G |
11: 75,336,422 (GRCm39) |
F1655L |
probably damaging |
Het |
| Wfdc3 |
T |
A |
2: 164,576,111 (GRCm39) |
D60V |
probably 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 |
|
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'- AGAACTGTTGCCGAGCCCTAAGAG -3'
(R):5'- TGCTGTGCCATGAGACAGATATGTG -3'
Sequencing Primer
(F):5'- GCCCTAAGAGATGCTAGGTG -3'
(R):5'- cccagagaccccacaacc -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation