Incidental Mutation 'R1251:Adcy9'
| ID |
151775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy9
|
| Ensembl Gene |
ENSMUSG00000005580 |
| Gene Name |
adenylate cyclase 9 |
| Synonyms |
D16Wsu65e, ACtp10 |
| MMRRC Submission |
039318-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.558)
|
| Stock # |
R1251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4287529-4420498 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4311531 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 497
(E497V)
|
| 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: E734V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: E734V
| 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: E734V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: E734V
| 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: E497V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: E497V
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 123,962,052 (GRCm38) |
G495D |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 31,108,171 (GRCm38) |
Y509N |
probably damaging |
Het |
| Bcat2 |
T |
G |
7: 45,575,986 (GRCm38) |
L56R |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,293,372 (GRCm38) |
M952V |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,826,480 (GRCm38) |
K446R |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,601,265 (GRCm38) |
V2607I |
probably benign |
Het |
| Clec18a |
T |
C |
8: 111,081,638 (GRCm38) |
I54V |
possibly damaging |
Het |
| Coil |
A |
G |
11: 88,982,299 (GRCm38) |
E455G |
possibly damaging |
Het |
| Copg1 |
A |
T |
6: 87,890,007 (GRCm38) |
K75* |
probably null |
Het |
| Cyp2j12 |
G |
A |
4: 96,115,666 (GRCm38) |
Q238* |
probably null |
Het |
| D17Wsu92e |
C |
T |
17: 27,786,070 (GRCm38) |
|
probably null |
Het |
| Eif3i |
T |
C |
4: 129,593,385 (GRCm38) |
E229G |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 30,886,276 (GRCm38) |
N411Y |
probably benign |
Het |
| Eya2 |
T |
A |
2: 165,754,484 (GRCm38) |
M305K |
probably damaging |
Het |
| Faim |
C |
T |
9: 98,992,634 (GRCm38) |
T78M |
probably damaging |
Het |
| Fgg |
T |
A |
3: 83,012,980 (GRCm38) |
D355E |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,358,785 (GRCm38) |
L638P |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,386,015 (GRCm38) |
E664D |
possibly damaging |
Het |
| Il1rn |
A |
G |
2: 24,345,570 (GRCm38) |
R21G |
probably damaging |
Het |
| Inpp4b |
G |
A |
8: 81,890,753 (GRCm38) |
G220R |
probably benign |
Het |
| Irx6 |
A |
G |
8: 92,678,253 (GRCm38) |
S250G |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,634,483 (GRCm38) |
I246T |
probably benign |
Het |
| Mcm3 |
G |
A |
1: 20,812,672 (GRCm38) |
Q353* |
probably null |
Het |
| Mfhas1 |
A |
G |
8: 35,591,053 (GRCm38) |
Y894C |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,372,053 (GRCm38) |
L348P |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,111,192 (GRCm38) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,463,842 (GRCm38) |
S160T |
possibly damaging |
Het |
| Npc2 |
A |
G |
12: 84,760,884 (GRCm38) |
S67P |
probably damaging |
Het |
| Olfr1036 |
G |
A |
2: 86,074,820 (GRCm38) |
V27M |
probably benign |
Het |
| Olfr513 |
T |
G |
7: 108,754,907 (GRCm38) |
F17C |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,677,182 (GRCm38) |
F1108L |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,359,199 (GRCm38) |
S601N |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,535,051 (GRCm38) |
V842I |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,543,234 (GRCm38) |
|
probably null |
Het |
| Setd1a |
T |
A |
7: 127,797,424 (GRCm38) |
|
probably benign |
Het |
| Sgo2a |
A |
T |
1: 57,999,962 (GRCm38) |
|
probably null |
Het |
| Sult2a8 |
T |
A |
7: 14,425,425 (GRCm38) |
K90* |
probably null |
Het |
| Tlr2 |
T |
C |
3: 83,838,269 (GRCm38) |
D169G |
possibly damaging |
Het |
| Tmem95 |
A |
G |
11: 69,876,829 (GRCm38) |
F153S |
probably benign |
Het |
| Tube1 |
G |
T |
10: 39,134,208 (GRCm38) |
G10* |
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 108,996,024 (GRCm38) |
M687V |
probably benign |
Het |
| Zc3h8 |
G |
A |
2: 128,935,369 (GRCm38) |
P117S |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,705,089 (GRCm38) |
D18E |
probably damaging |
Het |
|
| Other mutations in Adcy9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Adcy9
|
APN |
16 |
4,304,582 (GRCm38) |
missense |
probably benign |
|
|
IGL00326:Adcy9
|
APN |
16 |
4,294,696 (GRCm38) |
missense |
probably benign |
|
|
IGL00792:Adcy9
|
APN |
16 |
4,288,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01610:Adcy9
|
APN |
16 |
4,418,114 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02376:Adcy9
|
APN |
16 |
4,418,680 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02424:Adcy9
|
APN |
16 |
4,288,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03097:Adcy9
|
UTSW |
16 |
4,418,066 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
PIT4243001:Adcy9
|
UTSW |
16 |
4,418,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0043:Adcy9
|
UTSW |
16 |
4,289,015 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0085:Adcy9
|
UTSW |
16 |
4,288,224 (GRCm38) |
missense |
probably benign |
|
|
R0105:Adcy9
|
UTSW |
16 |
4,288,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0105:Adcy9
|
UTSW |
16 |
4,288,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0371:Adcy9
|
UTSW |
16 |
4,288,047 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0613:Adcy9
|
UTSW |
16 |
4,419,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0689:Adcy9
|
UTSW |
16 |
4,312,804 (GRCm38) |
splice site |
probably benign |
|
|
R0744:Adcy9
|
UTSW |
16 |
4,419,271 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0836:Adcy9
|
UTSW |
16 |
4,419,271 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R1223:Adcy9
|
UTSW |
16 |
4,298,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1689:Adcy9
|
UTSW |
16 |
4,297,562 (GRCm38) |
splice site |
probably null |
|
|
R1922:Adcy9
|
UTSW |
16 |
4,311,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1955:Adcy9
|
UTSW |
16 |
4,418,659 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1989:Adcy9
|
UTSW |
16 |
4,298,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1998:Adcy9
|
UTSW |
16 |
4,297,412 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2321:Adcy9
|
UTSW |
16 |
4,288,268 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3160:Adcy9
|
UTSW |
16 |
4,311,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3161:Adcy9
|
UTSW |
16 |
4,311,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3162:Adcy9
|
UTSW |
16 |
4,311,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3162:Adcy9
|
UTSW |
16 |
4,311,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4065:Adcy9
|
UTSW |
16 |
4,288,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4909:Adcy9
|
UTSW |
16 |
4,298,754 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5078:Adcy9
|
UTSW |
16 |
4,323,907 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5870:Adcy9
|
UTSW |
16 |
4,418,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5968:Adcy9
|
UTSW |
16 |
4,298,742 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5975:Adcy9
|
UTSW |
16 |
4,311,567 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6014:Adcy9
|
UTSW |
16 |
4,418,819 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6035:Adcy9
|
UTSW |
16 |
4,304,513 (GRCm38) |
missense |
probably benign |
|
|
R6035:Adcy9
|
UTSW |
16 |
4,304,513 (GRCm38) |
missense |
probably benign |
|
|
R6081:Adcy9
|
UTSW |
16 |
4,294,681 (GRCm38) |
missense |
probably benign |
|
|
R6192:Adcy9
|
UTSW |
16 |
4,287,954 (GRCm38) |
missense |
probably benign |
|
|
R6604:Adcy9
|
UTSW |
16 |
4,304,407 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6739:Adcy9
|
UTSW |
16 |
4,418,794 (GRCm38) |
missense |
probably benign |
|
|
R6829:Adcy9
|
UTSW |
16 |
4,307,154 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6986:Adcy9
|
UTSW |
16 |
4,311,577 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7491:Adcy9
|
UTSW |
16 |
4,418,809 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7561:Adcy9
|
UTSW |
16 |
4,418,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7614:Adcy9
|
UTSW |
16 |
4,418,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7803:Adcy9
|
UTSW |
16 |
4,304,380 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7993:Adcy9
|
UTSW |
16 |
4,418,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8444:Adcy9
|
UTSW |
16 |
4,288,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8519:Adcy9
|
UTSW |
16 |
4,288,128 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R8546:Adcy9
|
UTSW |
16 |
4,418,905 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8751:Adcy9
|
UTSW |
16 |
4,311,628 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9004:Adcy9
|
UTSW |
16 |
4,288,514 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9076:Adcy9
|
UTSW |
16 |
4,288,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9351:Adcy9
|
UTSW |
16 |
4,418,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9491:Adcy9
|
UTSW |
16 |
4,418,188 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9571:Adcy9
|
UTSW |
16 |
4,323,789 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9614:Adcy9
|
UTSW |
16 |
4,288,683 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0023:Adcy9
|
UTSW |
16 |
4,323,916 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Adcy9
|
UTSW |
16 |
4,307,232 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGGGGCAGGCTCAGCATTTG -3'
(R):5'- ATTGACTCCCAGGACTCAGTGTGG -3'
Sequencing Primer
(F):5'- AGGCTCAGCATTTGTCACAG -3'
(R):5'- AGAATGGACTTCTGAGCCCTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation