Incidental Mutation 'R6014:Adcy9'
| ID |
479941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy9
|
| Ensembl Gene |
ENSMUSG00000005580 |
| Gene Name |
adenylate cyclase 9 |
| Synonyms |
ACtp10, D16Wsu65e |
| MMRRC Submission |
044190-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R6014 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4105393-4238362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4236683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 6
(Y6N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005719]
[ENSMUST00000117801]
[ENSMUST00000120080]
|
| AlphaFold |
P51830 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005719
AA Change: Y243N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: Y243N
| 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: Y243N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: Y243N
| 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: Y6N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: Y6N
| 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 |
0.4705 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (67/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
T |
2: 35,244,881 (GRCm39) |
M157K |
probably benign |
Het |
| A2ml1 |
C |
T |
6: 128,548,948 (GRCm39) |
C278Y |
probably damaging |
Het |
| Abcc2 |
A |
T |
19: 43,815,174 (GRCm39) |
Q1187L |
probably benign |
Het |
| Adh1 |
T |
C |
3: 137,992,559 (GRCm39) |
I225T |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,749,939 (GRCm39) |
I816K |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,969,364 (GRCm39) |
M240K |
possibly damaging |
Het |
| Apex1 |
A |
T |
14: 51,162,982 (GRCm39) |
T17S |
probably benign |
Het |
| Arhgap21 |
C |
T |
2: 20,886,616 (GRCm39) |
G26D |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,180,615 (GRCm39) |
Y2613C |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,246,248 (GRCm39) |
R566W |
probably damaging |
Het |
| Casp8ap2 |
A |
T |
4: 32,641,400 (GRCm39) |
Y818F |
probably damaging |
Het |
| Col3a1 |
T |
A |
1: 45,360,739 (GRCm39) |
C56* |
probably null |
Het |
| Coro2a |
G |
A |
4: 46,542,261 (GRCm39) |
P371S |
probably damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,638,605 (GRCm39) |
|
probably null |
Het |
| Dpysl3 |
T |
A |
18: 43,494,132 (GRCm39) |
I183F |
probably damaging |
Het |
| Drc1 |
A |
T |
5: 30,502,993 (GRCm39) |
N172I |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,303,915 (GRCm39) |
Y1378H |
probably damaging |
Het |
| Dync2i2 |
C |
T |
2: 29,921,763 (GRCm39) |
A533T |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epb41l3 |
A |
T |
17: 69,590,955 (GRCm39) |
T91S |
probably damaging |
Het |
| Exoc4 |
T |
C |
6: 33,452,932 (GRCm39) |
V474A |
probably benign |
Het |
| Fam229b |
G |
A |
10: 38,994,989 (GRCm39) |
T56I |
probably damaging |
Het |
| Gfm2 |
A |
G |
13: 97,288,169 (GRCm39) |
|
probably null |
Het |
| Git2 |
C |
T |
5: 114,871,938 (GRCm39) |
E152K |
probably benign |
Het |
| Golt1b |
T |
A |
6: 142,341,943 (GRCm39) |
I109N |
probably damaging |
Het |
| Grid2ip |
T |
A |
5: 143,373,578 (GRCm39) |
M783K |
possibly damaging |
Het |
| Inpp5a |
A |
G |
7: 139,154,898 (GRCm39) |
Y339C |
probably damaging |
Het |
| Isoc2a |
T |
C |
7: 4,894,625 (GRCm39) |
S103P |
probably damaging |
Het |
| Itih4 |
C |
A |
14: 30,614,586 (GRCm39) |
Q483K |
probably benign |
Het |
| Kansl2 |
A |
G |
15: 98,418,197 (GRCm39) |
|
probably null |
Het |
| Kdm5d |
G |
A |
Y: 921,528 (GRCm39) |
A509T |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,008,437 (GRCm39) |
D433E |
unknown |
Het |
| Lat2 |
C |
T |
5: 134,632,308 (GRCm39) |
V142M |
probably damaging |
Het |
| Lemd1 |
A |
C |
1: 132,184,463 (GRCm39) |
*102S |
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,376,934 (GRCm39) |
L5P |
possibly damaging |
Het |
| Lrrc4c |
T |
G |
2: 97,459,557 (GRCm39) |
|
probably null |
Het |
| Lypla1 |
T |
A |
1: 4,878,594 (GRCm39) |
|
probably null |
Het |
| Magi2 |
G |
A |
5: 20,816,091 (GRCm39) |
G744R |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,274,502 (GRCm39) |
E948V |
probably null |
Het |
| Myo5a |
C |
A |
9: 75,074,489 (GRCm39) |
Y799* |
probably null |
Het |
| Nacc1 |
A |
C |
8: 85,401,700 (GRCm39) |
M371R |
possibly damaging |
Het |
| Nlrp5 |
T |
G |
7: 23,109,372 (GRCm39) |
M106R |
probably benign |
Het |
| Oas1h |
C |
T |
5: 121,005,229 (GRCm39) |
H226Y |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,929,690 (GRCm39) |
I5175R |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,878,497 (GRCm39) |
I684N |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,706 (GRCm39) |
N557K |
probably damaging |
Het |
| Pde3b |
T |
C |
7: 114,015,675 (GRCm39) |
L297S |
probably damaging |
Het |
| Pigv |
G |
T |
4: 133,392,740 (GRCm39) |
H143Q |
probably benign |
Het |
| Ptk2 |
T |
G |
15: 73,176,293 (GRCm39) |
Y251S |
possibly damaging |
Het |
| Ralgds |
A |
G |
2: 28,433,673 (GRCm39) |
N219S |
probably damaging |
Het |
| Sardh |
C |
A |
2: 27,087,540 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
A |
T |
12: 104,097,356 (GRCm39) |
K212N |
possibly damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,716,971 (GRCm39) |
N461D |
probably benign |
Het |
| Shisa2 |
A |
T |
14: 59,867,357 (GRCm39) |
Q203L |
probably damaging |
Het |
| Shmt1 |
C |
A |
11: 60,688,383 (GRCm39) |
G255V |
probably damaging |
Het |
| Socs1 |
T |
A |
16: 10,602,357 (GRCm39) |
I127F |
possibly damaging |
Het |
| Srcap |
A |
T |
7: 127,137,922 (GRCm39) |
T1091S |
probably benign |
Het |
| Syt14 |
A |
G |
1: 192,613,003 (GRCm39) |
I599T |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,084,457 (GRCm39) |
N907K |
probably benign |
Het |
| Themis2 |
A |
G |
4: 132,513,291 (GRCm39) |
Y312H |
probably benign |
Het |
| Tubgcp5 |
T |
G |
7: 55,473,357 (GRCm39) |
S812A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,582,237 (GRCm39) |
I3767F |
probably damaging |
Het |
| Usp40 |
T |
A |
1: 87,907,738 (GRCm39) |
E626V |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,566,620 (GRCm39) |
R1181G |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,698,535 (GRCm39) |
I13F |
probably damaging |
Het |
| Wdr48 |
G |
T |
9: 119,753,775 (GRCm39) |
V646F |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,633,556 (GRCm39) |
F936L |
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 |
|
R5975:Adcy9
|
UTSW |
16 |
4,129,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- ACAGATGGATCCCGATAGCG -3'
(R):5'- TACTTTCACCAAGCTGTACGCC -3'
Sequencing Primer
(F):5'- ATCCCGATAGCGTGAATGC -3'
(R):5'- TGTACGCCCGGCATTATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation