Incidental Mutation 'R7803:Adcy9'
| ID |
600640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy9
|
| Ensembl Gene |
ENSMUSG00000005580 |
| Gene Name |
adenylate cyclase 9 |
| Synonyms |
ACtp10, D16Wsu65e |
| MMRRC Submission |
045858-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R7803 (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 G
at 4122244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 839
(I839T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005719]
[ENSMUST00000117801]
[ENSMUST00000120080]
|
| AlphaFold |
P51830 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005719
AA Change: I839T
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: I839T
| 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: I839T
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: I839T
| 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: I602T
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: I602T
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (49/50) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
C |
A |
19: 34,220,818 (GRCm39) |
A297S |
probably benign |
Het |
| Ada |
A |
G |
2: 163,577,288 (GRCm39) |
Y67H |
probably benign |
Het |
| Arg1 |
C |
T |
10: 24,792,689 (GRCm39) |
V182I |
possibly damaging |
Het |
| Cbx7 |
G |
A |
15: 79,818,024 (GRCm39) |
T26M |
unknown |
Het |
| Ceacam5 |
A |
G |
7: 17,493,317 (GRCm39) |
Y780C |
probably damaging |
Het |
| Ces2h |
A |
G |
8: 105,745,032 (GRCm39) |
M389V |
probably benign |
Het |
| Chst11 |
A |
T |
10: 83,027,020 (GRCm39) |
E149V |
possibly damaging |
Het |
| Clstn1 |
T |
C |
4: 149,716,328 (GRCm39) |
W265R |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,467,419 (GRCm39) |
|
probably null |
Het |
| Csrp3 |
T |
G |
7: 48,483,545 (GRCm39) |
K119T |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,446,229 (GRCm39) |
|
probably null |
Het |
| Ddx41 |
A |
G |
13: 55,679,734 (GRCm39) |
I437T |
probably damaging |
Het |
| Eif1ad4 |
T |
A |
12: 87,862,269 (GRCm39) |
C44S |
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,728,077 (GRCm39) |
D282E |
probably damaging |
Het |
| Folh1 |
G |
A |
7: 86,375,306 (GRCm39) |
T527I |
probably damaging |
Het |
| Gch1 |
T |
A |
14: 47,426,418 (GRCm39) |
T103S |
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,438,136 (GRCm39) |
S674P |
probably damaging |
Het |
| Hecw1 |
G |
T |
13: 14,408,927 (GRCm39) |
R1127S |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,646,030 (GRCm39) |
C723S |
probably benign |
Het |
| Impg2 |
T |
C |
16: 56,087,513 (GRCm39) |
S1111P |
probably damaging |
Het |
| Insl3 |
T |
C |
8: 72,141,984 (GRCm39) |
L28P |
probably damaging |
Het |
| Kifc1 |
T |
C |
17: 34,103,714 (GRCm39) |
D203G |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,760,804 (GRCm39) |
S849T |
unknown |
Het |
| Krt33b |
A |
G |
11: 99,916,084 (GRCm39) |
|
probably null |
Het |
| Lpin3 |
A |
G |
2: 160,737,310 (GRCm39) |
D119G |
possibly damaging |
Het |
| Maml2 |
GCA |
GCACCA |
9: 13,532,572 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
AGC |
AGCCGC |
9: 13,532,571 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
AGC |
AGCCGC |
9: 13,532,550 (GRCm39) |
|
probably benign |
Het |
| Nsun7 |
T |
A |
5: 66,433,884 (GRCm39) |
L178* |
probably null |
Het |
| Or6c1b |
A |
G |
10: 129,272,800 (GRCm39) |
N40D |
probably damaging |
Het |
| Or6c205 |
A |
T |
10: 129,086,864 (GRCm39) |
I154F |
probably benign |
Het |
| Or8g55 |
A |
T |
9: 39,785,378 (GRCm39) |
D269V |
probably benign |
Het |
| Orc6 |
T |
A |
8: 86,030,037 (GRCm39) |
S136T |
possibly damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,779,377 (GRCm39) |
|
probably null |
Het |
| Prkdc |
G |
A |
16: 15,623,960 (GRCm39) |
D3308N |
probably null |
Het |
| Rtkn2 |
G |
A |
10: 67,815,643 (GRCm39) |
|
probably null |
Het |
| Sele |
T |
C |
1: 163,878,263 (GRCm39) |
S201P |
possibly damaging |
Het |
| Shq1 |
A |
G |
6: 100,648,006 (GRCm39) |
F6S |
probably damaging |
Het |
| Sparc |
A |
T |
11: 55,300,797 (GRCm39) |
I5N |
probably damaging |
Het |
| Spata31e3 |
A |
G |
13: 50,400,226 (GRCm39) |
V700A |
probably benign |
Het |
| Srm |
T |
C |
4: 148,678,402 (GRCm39) |
I238T |
probably damaging |
Het |
| Stx2 |
C |
A |
5: 129,070,627 (GRCm39) |
E97* |
probably null |
Het |
| Sugp2 |
C |
T |
8: 70,704,722 (GRCm39) |
P753L |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,937,943 (GRCm39) |
S1578T |
probably damaging |
Het |
| Tff3 |
T |
C |
17: 31,348,544 (GRCm39) |
T3A |
probably benign |
Het |
| Tmem38a |
C |
T |
8: 73,325,964 (GRCm39) |
A6V |
probably benign |
Het |
| Trbv16 |
G |
A |
6: 41,128,929 (GRCm39) |
A38T |
not run |
Het |
| Trim30a |
G |
A |
7: 104,060,604 (GRCm39) |
Q391* |
probably null |
Het |
| Ttn |
T |
G |
2: 76,606,715 (GRCm39) |
Y18065S |
probably damaging |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Vmn2r24 |
T |
A |
6: 123,757,438 (GRCm39) |
M102K |
probably benign |
Het |
| Vmn2r69 |
G |
T |
7: 85,056,324 (GRCm39) |
H605N |
probably benign |
Het |
| Washc1 |
T |
A |
17: 66,426,055 (GRCm39) |
M451K |
possibly damaging |
Het |
| Washc3 |
G |
T |
10: 88,051,937 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
T |
15: 59,240,308 (GRCm39) |
Y112N |
probably damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,744,638 (GRCm39) |
T261S |
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 |
|
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'- TTAGATCTGGCATCAGCTGG -3'
(R):5'- TCTCCTGTGAAGACGTTCGC -3'
Sequencing Primer
(F):5'- GCTGACCCTCTAGTGTGC -3'
(R):5'- TGAAGACGTTCGCCAGTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation