Incidental Mutation 'R0371:Adcy9'
ID |
30497 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy9
|
Ensembl Gene |
ENSMUSG00000005580 |
Gene Name |
adenylate cyclase 9 |
Synonyms |
ACtp10, D16Wsu65e |
MMRRC Submission |
038577-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.527)
|
Stock # |
R0371 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
4105393-4238362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 4105911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 1068
(R1068C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005719]
[ENSMUST00000117801]
[ENSMUST00000120080]
|
AlphaFold |
P51830 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005719
AA Change: R1305C
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000005719 Gene: ENSMUSG00000005580 AA Change: R1305C
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 benign
Transcript: ENSMUST00000117801
AA Change: R1305C
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000113498 Gene: ENSMUSG00000005580 AA Change: R1305C
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 benign
Transcript: ENSMUST00000120080
AA Change: R1068C
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000113421 Gene: ENSMUSG00000005580 AA Change: R1068C
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.6%
|
Validation Efficiency |
99% (67/68) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afmid |
C |
T |
11: 117,725,966 (GRCm39) |
|
probably benign |
Het |
Aqr |
A |
G |
2: 113,988,085 (GRCm39) |
V159A |
possibly damaging |
Het |
Atp6v0d2 |
G |
C |
4: 19,880,033 (GRCm39) |
T288R |
possibly damaging |
Het |
Btnl1 |
T |
C |
17: 34,600,031 (GRCm39) |
V178A |
probably damaging |
Het |
Ccdc110 |
T |
A |
8: 46,395,843 (GRCm39) |
M578K |
possibly damaging |
Het |
Ccdc38 |
G |
T |
10: 93,398,674 (GRCm39) |
E51* |
probably null |
Het |
Cep290 |
T |
A |
10: 100,354,426 (GRCm39) |
|
probably benign |
Het |
Cilp2 |
T |
C |
8: 70,334,256 (GRCm39) |
E914G |
probably damaging |
Het |
Col6a2 |
T |
C |
10: 76,450,307 (GRCm39) |
N208S |
probably benign |
Het |
Ctrb1 |
T |
A |
8: 112,413,783 (GRCm39) |
I194F |
probably benign |
Het |
Cyp4a12a |
C |
G |
4: 115,183,880 (GRCm39) |
R229G |
probably damaging |
Het |
Dach1 |
C |
T |
14: 98,207,339 (GRCm39) |
V337M |
probably damaging |
Het |
Dcbld2 |
A |
G |
16: 58,271,186 (GRCm39) |
N321S |
probably benign |
Het |
Enpep |
C |
T |
3: 129,077,516 (GRCm39) |
|
probably null |
Het |
Fat1 |
T |
C |
8: 45,404,929 (GRCm39) |
L560P |
probably damaging |
Het |
Fdxr |
T |
C |
11: 115,166,915 (GRCm39) |
H58R |
possibly damaging |
Het |
Filip1 |
G |
T |
9: 79,767,373 (GRCm39) |
P147T |
probably damaging |
Het |
Fras1 |
G |
A |
5: 96,703,190 (GRCm39) |
E318K |
possibly damaging |
Het |
Grk2 |
T |
C |
19: 4,341,614 (GRCm39) |
|
probably null |
Het |
Gvin-ps6 |
A |
T |
7: 106,021,986 (GRCm39) |
C339S |
unknown |
Het |
Havcr1 |
T |
C |
11: 46,643,416 (GRCm39) |
I112T |
possibly damaging |
Het |
Hjurp |
G |
A |
1: 88,205,090 (GRCm39) |
|
probably benign |
Het |
Ildr2 |
G |
A |
1: 166,131,133 (GRCm39) |
V330I |
probably damaging |
Het |
Ino80d |
T |
C |
1: 63,097,115 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
A |
G |
6: 90,647,385 (GRCm39) |
|
probably benign |
Het |
Irf2bpl |
C |
T |
12: 86,928,417 (GRCm39) |
W752* |
probably null |
Het |
Kdr |
T |
A |
5: 76,102,494 (GRCm39) |
H1211L |
probably benign |
Het |
Klri2 |
A |
G |
6: 129,709,106 (GRCm39) |
*249R |
probably null |
Het |
Ktn1 |
A |
T |
14: 47,961,460 (GRCm39) |
K1054* |
probably null |
Het |
Lactb2 |
A |
G |
1: 13,720,984 (GRCm39) |
S83P |
possibly damaging |
Het |
Lrrc3b |
A |
T |
14: 15,358,560 (GRCm38) |
C15* |
probably null |
Het |
Mrs2 |
T |
C |
13: 25,177,078 (GRCm39) |
I430V |
probably benign |
Het |
Myo3b |
C |
T |
2: 70,083,304 (GRCm39) |
|
probably benign |
Het |
Nbas |
C |
T |
12: 13,381,096 (GRCm39) |
T696I |
probably damaging |
Het |
Nsun6 |
T |
C |
2: 15,034,898 (GRCm39) |
D240G |
probably damaging |
Het |
Nup107 |
T |
C |
10: 117,599,674 (GRCm39) |
E615G |
probably damaging |
Het |
Or2a25 |
A |
T |
6: 42,888,872 (GRCm39) |
R138S |
probably benign |
Het |
Or3a1d |
T |
A |
11: 74,237,760 (GRCm39) |
I217F |
probably damaging |
Het |
Or4k77 |
A |
T |
2: 111,199,498 (GRCm39) |
I174L |
probably benign |
Het |
Or5ac23 |
A |
G |
16: 59,149,585 (GRCm39) |
C96R |
possibly damaging |
Het |
Pabpc1l |
G |
A |
2: 163,877,192 (GRCm39) |
V256M |
probably benign |
Het |
Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
Sik1 |
T |
C |
17: 32,067,958 (GRCm39) |
D409G |
probably benign |
Het |
Slc22a22 |
A |
T |
15: 57,113,131 (GRCm39) |
D369E |
possibly damaging |
Het |
Smg1 |
T |
A |
7: 117,767,523 (GRCm39) |
|
probably benign |
Het |
Snap29 |
C |
A |
16: 17,224,067 (GRCm39) |
D27E |
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Sorcs3 |
A |
G |
19: 48,592,333 (GRCm39) |
I333V |
probably benign |
Het |
Spag7 |
A |
G |
11: 70,555,622 (GRCm39) |
M105T |
probably damaging |
Het |
Srgap3 |
A |
T |
6: 112,748,432 (GRCm39) |
S407T |
probably damaging |
Het |
Supt6 |
T |
C |
11: 78,113,983 (GRCm39) |
N854S |
probably benign |
Het |
Syne2 |
T |
C |
12: 75,980,619 (GRCm39) |
S1460P |
probably damaging |
Het |
Taok3 |
C |
T |
5: 117,344,752 (GRCm39) |
Q160* |
probably null |
Het |
Tchhl1 |
C |
A |
3: 93,376,884 (GRCm39) |
A27E |
probably damaging |
Het |
Tet1 |
T |
C |
10: 62,714,178 (GRCm39) |
D539G |
probably damaging |
Het |
Tut1 |
T |
C |
19: 8,940,137 (GRCm39) |
F374L |
probably damaging |
Het |
Unc5c |
C |
T |
3: 141,533,283 (GRCm39) |
P770S |
probably benign |
Het |
Vmn2r101 |
T |
A |
17: 19,810,394 (GRCm39) |
N393K |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,477,556 (GRCm39) |
H285L |
probably benign |
Het |
Wdr62 |
G |
A |
7: 29,941,583 (GRCm39) |
S700L |
possibly damaging |
Het |
Wscd1 |
A |
G |
11: 71,679,549 (GRCm39) |
D474G |
probably damaging |
Het |
Zcchc7 |
A |
G |
4: 44,762,190 (GRCm39) |
N106S |
probably damaging |
Het |
Zfp345 |
G |
T |
2: 150,313,983 (GRCm39) |
T518N |
possibly damaging |
Het |
Zfp648 |
A |
T |
1: 154,080,413 (GRCm39) |
S191C |
possibly damaging |
Het |
Zkscan8 |
C |
T |
13: 21,710,844 (GRCm39) |
E89K |
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 |
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'- ACCACATCTGGGGACAGAAACTGAG -3'
(R):5'- TACCGAGGGACCGTGAATGTCAAG -3'
Sequencing Primer
(F):5'- GCCTATCGACACAGATGTTACTG -3'
(R):5'- GGGCAGATGAAGACCTACCTTTAC -3'
|
Posted On |
2013-04-24 |