Incidental Mutation 'R7993:Adcy9'
| ID |
651898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy9
|
| Ensembl Gene |
ENSMUSG00000005580 |
| Gene Name |
adenylate cyclase 9 |
| Synonyms |
ACtp10, D16Wsu65e |
| MMRRC Submission |
046034-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R7993 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4105393-4238362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4235866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 515
(N515S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005719]
[ENSMUST00000117801]
[ENSMUST00000120080]
|
| AlphaFold |
P51830 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005719
AA Change: N515S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: N515S
| 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: N515S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: N515S
| 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: N278S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: N278S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (69/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,803,231 (GRCm39) |
V689D |
possibly damaging |
Het |
| Adamts17 |
T |
C |
7: 66,499,612 (GRCm39) |
V53A |
possibly damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,542 (GRCm39) |
N183K |
possibly damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,878 (GRCm39) |
V88A |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,700,406 (GRCm39) |
|
probably null |
Het |
| Baz2a |
T |
C |
10: 127,961,491 (GRCm39) |
F1706L |
probably benign |
Het |
| Cacnb2 |
A |
C |
2: 14,968,731 (GRCm39) |
N199T |
probably benign |
Het |
| Caskin1 |
T |
A |
17: 24,718,279 (GRCm39) |
Y296* |
probably null |
Het |
| Cemip |
C |
A |
7: 83,613,383 (GRCm39) |
G605V |
probably damaging |
Het |
| Ciart |
T |
A |
3: 95,786,206 (GRCm39) |
K290* |
probably null |
Het |
| Cideb |
G |
T |
14: 55,995,899 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,793,097 (GRCm39) |
Y413N |
probably damaging |
Het |
| Csrp1 |
T |
A |
1: 135,674,453 (GRCm39) |
|
probably null |
Het |
| Cyp2j8 |
C |
T |
4: 96,335,456 (GRCm39) |
|
probably null |
Het |
| Dcbld1 |
T |
A |
10: 52,137,884 (GRCm39) |
Y49* |
probably null |
Het |
| Dpep1 |
T |
C |
8: 123,927,460 (GRCm39) |
V338A |
possibly damaging |
Het |
| Exoc2 |
A |
G |
13: 31,090,713 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
A |
T |
13: 98,888,524 (GRCm39) |
|
probably null |
Het |
| Foxd3 |
C |
T |
4: 99,544,841 (GRCm39) |
|
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gipc3 |
T |
C |
10: 81,173,805 (GRCm39) |
D269G |
probably damaging |
Het |
| Gm4861 |
G |
A |
3: 137,256,417 (GRCm39) |
T63M |
probably damaging |
Het |
| Hmga1b |
C |
A |
11: 120,653,833 (GRCm39) |
A40E |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,306,264 (GRCm39) |
M3889K |
probably benign |
Het |
| Inhca |
T |
A |
9: 103,140,332 (GRCm39) |
K462N |
probably benign |
Het |
| Klk14 |
T |
A |
7: 43,344,367 (GRCm39) |
M226K |
probably benign |
Het |
| Liph |
T |
G |
16: 21,777,562 (GRCm39) |
M413L |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,348,787 (GRCm39) |
D2636G |
unknown |
Het |
| Lrrk1 |
G |
A |
7: 65,912,202 (GRCm39) |
T1786M |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,135,057 (GRCm39) |
S1958G |
possibly damaging |
Het |
| Msto1 |
A |
G |
3: 88,817,481 (GRCm39) |
F484S |
probably benign |
Het |
| Muc2 |
C |
T |
7: 141,308,173 (GRCm39) |
H890Y |
|
Het |
| Nectin3 |
T |
C |
16: 46,279,184 (GRCm39) |
I265V |
probably benign |
Het |
| Nectin4 |
C |
T |
1: 171,211,322 (GRCm39) |
T282I |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,082,134 (GRCm39) |
|
probably null |
Het |
| Nsmaf |
T |
C |
4: 6,398,647 (GRCm39) |
D819G |
probably benign |
Het |
| Or8b8 |
A |
T |
9: 37,808,633 (GRCm39) |
|
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,044 (GRCm39) |
D665V |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,895,262 (GRCm39) |
D616G |
|
Het |
| Plppr2 |
A |
T |
9: 21,858,258 (GRCm39) |
H286L |
probably damaging |
Het |
| Polrmt |
T |
C |
10: 79,572,085 (GRCm39) |
T1203A |
probably damaging |
Het |
| Ppm1d |
T |
A |
11: 85,217,777 (GRCm39) |
V180E |
probably damaging |
Het |
| Ppp1r18 |
T |
A |
17: 36,184,718 (GRCm39) |
I551N |
probably benign |
Het |
| Psg28 |
C |
T |
7: 18,160,401 (GRCm39) |
C265Y |
possibly damaging |
Het |
| Psmc1 |
A |
G |
12: 100,081,824 (GRCm39) |
D142G |
probably benign |
Het |
| Rabgap1l |
G |
T |
1: 160,528,424 (GRCm39) |
A394E |
probably damaging |
Het |
| Rbm48 |
G |
A |
5: 3,640,470 (GRCm39) |
P303L |
probably benign |
Het |
| Rnf167 |
T |
C |
11: 70,540,821 (GRCm39) |
V185A |
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,999,443 (GRCm39) |
Q1169L |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,277,541 (GRCm39) |
D607G |
probably damaging |
Het |
| Scamp1 |
A |
G |
13: 94,366,294 (GRCm39) |
Y134H |
probably damaging |
Het |
| Scfd1 |
G |
A |
12: 51,492,490 (GRCm39) |
E600K |
probably damaging |
Het |
| Scn3b |
A |
G |
9: 40,193,840 (GRCm39) |
E189G |
possibly damaging |
Het |
| Scn4b |
G |
T |
9: 45,059,007 (GRCm39) |
V93L |
probably benign |
Het |
| Serpina3i |
A |
T |
12: 104,231,407 (GRCm39) |
T15S |
possibly damaging |
Het |
| Slc2a13 |
A |
T |
15: 91,296,356 (GRCm39) |
C319* |
probably null |
Het |
| Tdrd1 |
A |
G |
19: 56,854,437 (GRCm39) |
|
probably null |
Het |
| Tep1 |
T |
A |
14: 51,067,710 (GRCm39) |
I2169F |
probably benign |
Het |
| Tm4sf19 |
A |
G |
16: 32,226,458 (GRCm39) |
D124G |
possibly damaging |
Het |
| Trim2 |
T |
C |
3: 84,098,026 (GRCm39) |
Y434C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,327,622 (GRCm39) |
S1056T |
|
Het |
| Vmn1r230 |
T |
A |
17: 21,067,312 (GRCm39) |
M167K |
probably benign |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,862 (GRCm39) |
M685L |
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,478,047 (GRCm39) |
V3554D |
probably damaging |
Het |
| Zfp1010 |
C |
T |
2: 176,957,015 (GRCm39) |
G161D |
probably damaging |
Het |
| Zfp458 |
A |
G |
13: 67,405,234 (GRCm39) |
S402P |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,011,907 (GRCm39) |
A1291E |
probably damaging |
Het |
| Zmat5 |
G |
A |
11: 4,672,379 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
C |
A |
2: 166,897,857 (GRCm39) |
E356* |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,808,291 (GRCm39) |
T292A |
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 |
|
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 |
|
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 |
|
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'- ACTATCGCTCGCTGCAAAGAG -3'
(R):5'- CCTACTGCTGCATTGAAATGG -3'
Sequencing Primer
(F):5'- CTCGCTGCAAAGAGGTTTTTC -3'
(R):5'- CTACTGCTGCATTGAAATGGGCTTAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation