Incidental Mutation 'R9614:Adcy9'
| ID |
724477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy9
|
| Ensembl Gene |
ENSMUSG00000005580 |
| Gene Name |
adenylate cyclase 9 |
| Synonyms |
ACtp10, D16Wsu65e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R9614 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4105393-4238362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4106547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 1093
(D1093N)
|
| 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: D1093N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: D1093N
| 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: D1093N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: D1093N
| 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: D856N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: D856N
| 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: 99.6%
- 20x: 98.9%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
T |
19: 3,767,364 (GRCm39) |
T317I |
possibly damaging |
Het |
| Adamts7 |
T |
A |
9: 90,077,251 (GRCm39) |
V1306E |
probably damaging |
Het |
| Adgra3 |
A |
G |
5: 50,164,250 (GRCm39) |
V243A |
probably damaging |
Het |
| Aqp4 |
C |
T |
18: 15,526,687 (GRCm39) |
A265T |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,970,119 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
A |
G |
16: 29,260,398 (GRCm39) |
V560A |
|
Het |
| Best2 |
A |
C |
8: 85,740,051 (GRCm39) |
C38G |
|
Het |
| Bicra |
A |
T |
7: 15,705,880 (GRCm39) |
S1520R |
probably damaging |
Het |
| C1s2 |
A |
G |
6: 124,602,588 (GRCm39) |
L541P |
probably damaging |
Het |
| Calcoco2 |
T |
A |
11: 95,991,185 (GRCm39) |
H184L |
probably benign |
Het |
| Cav1 |
A |
T |
6: 17,339,403 (GRCm39) |
I163F |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,597,563 (GRCm39) |
H356R |
probably damaging |
Het |
| Clu |
A |
C |
14: 66,208,851 (GRCm39) |
H32P |
unknown |
Het |
| Col5a1 |
T |
A |
2: 27,879,186 (GRCm39) |
D840E |
unknown |
Het |
| Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,208,239 (GRCm39) |
V1239L |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,482,945 (GRCm39) |
Q267L |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,975,212 (GRCm39) |
R1689W |
probably damaging |
Het |
| Dao |
A |
T |
5: 114,152,060 (GRCm39) |
D126V |
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,978,423 (GRCm39) |
M560T |
probably benign |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,379 (GRCm39) |
I154N |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,517,144 (GRCm39) |
E980G |
probably damaging |
Het |
| Fgf21 |
T |
C |
7: 45,264,703 (GRCm39) |
T10A |
probably benign |
Het |
| Fhad1 |
A |
C |
4: 141,678,882 (GRCm39) |
V598G |
possibly damaging |
Het |
| Foxc1 |
A |
T |
13: 31,991,863 (GRCm39) |
I225F |
possibly damaging |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,744,047 (GRCm39) |
G294S |
probably damaging |
Het |
| Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
| Idh2 |
A |
T |
7: 79,747,925 (GRCm39) |
Y258* |
probably null |
Het |
| Immp2l |
T |
C |
12: 41,160,933 (GRCm39) |
V77A |
probably damaging |
Het |
| Isl1 |
T |
C |
13: 116,441,924 (GRCm39) |
E103G |
|
Het |
| Itgad |
A |
T |
7: 127,803,022 (GRCm39) |
T1059S |
probably damaging |
Het |
| Kcnj6 |
G |
A |
16: 94,633,307 (GRCm39) |
T268I |
probably damaging |
Het |
| Lgals3bp |
A |
G |
11: 118,284,037 (GRCm39) |
V514A |
probably benign |
Het |
| Mcfd2 |
A |
T |
17: 87,565,421 (GRCm39) |
H27Q |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,364,769 (GRCm39) |
W537R |
probably damaging |
Het |
| Mybl2 |
G |
T |
2: 162,906,225 (GRCm39) |
G102V |
probably damaging |
Het |
| Nars2 |
C |
T |
7: 96,689,125 (GRCm39) |
T349M |
probably damaging |
Het |
| Nat8f3 |
A |
T |
6: 85,738,708 (GRCm39) |
V18E |
|
Het |
| Npepps |
T |
C |
11: 97,149,177 (GRCm39) |
E115G |
probably benign |
Het |
| Odad3 |
T |
C |
9: 21,904,310 (GRCm39) |
D322G |
probably benign |
Het |
| Oog2 |
T |
A |
4: 143,922,707 (GRCm39) |
V324E |
probably damaging |
Het |
| Or2y12 |
T |
A |
11: 49,426,071 (GRCm39) |
W20R |
probably damaging |
Het |
| Or7g12 |
A |
T |
9: 18,899,526 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or8d2b |
G |
A |
9: 38,789,281 (GRCm39) |
V270M |
probably damaging |
Het |
| Or8j3b |
A |
G |
2: 86,205,012 (GRCm39) |
V248A |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,375,486 (GRCm39) |
S1550P |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,854,420 (GRCm39) |
V243A |
probably benign |
Het |
| Ptpn9 |
A |
G |
9: 56,944,005 (GRCm39) |
D293G |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,203,441 (GRCm39) |
K1784R |
probably damaging |
Het |
| Rab23 |
CAA |
CA |
1: 33,764,077 (GRCm39) |
|
probably null |
Het |
| Raf1 |
T |
C |
6: 115,596,597 (GRCm39) |
N576D |
probably benign |
Het |
| Rasa4 |
C |
A |
5: 136,140,343 (GRCm39) |
H782Q |
possibly damaging |
Het |
| Rims1 |
C |
A |
1: 22,491,969 (GRCm39) |
E168* |
probably null |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,434 (GRCm39) |
N874K |
possibly damaging |
Het |
| Rxfp4 |
C |
T |
3: 88,559,969 (GRCm39) |
V161I |
possibly damaging |
Het |
| Scel |
G |
A |
14: 103,843,032 (GRCm39) |
G558D |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,196,565 (GRCm39) |
K723R |
probably null |
Het |
| Slc12a1 |
A |
T |
2: 125,002,445 (GRCm39) |
R142W |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,409,736 (GRCm39) |
V306D |
probably damaging |
Het |
| Sox4 |
C |
T |
13: 29,136,079 (GRCm39) |
G309D |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,223,476 (GRCm39) |
T111A |
probably benign |
Het |
| Tgfa |
G |
A |
6: 86,248,397 (GRCm39) |
R133H |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,345,754 (GRCm39) |
S1836P |
probably damaging |
Het |
| Tlk2 |
A |
G |
11: 105,138,328 (GRCm39) |
D292G |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,141,160 (GRCm39) |
I657T |
probably benign |
Het |
| Tmprss11c |
G |
A |
5: 86,383,379 (GRCm39) |
T349I |
probably benign |
Het |
| Trhr |
A |
G |
15: 44,060,981 (GRCm39) |
N167S |
probably benign |
Het |
| Tsc22d1 |
T |
G |
14: 76,653,983 (GRCm39) |
I154S |
probably damaging |
Het |
| Vmn1r2 |
T |
C |
4: 3,172,587 (GRCm39) |
Y169H |
probably damaging |
Het |
| Vmn1r77 |
G |
T |
7: 11,775,766 (GRCm39) |
V181L |
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 |
|
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 |
|
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'- TAAAGCCGACCCTGAGCTTG -3'
(R):5'- CATCATCCCCTACCATGTGG -3'
Sequencing Primer
(F):5'- GACCCTGAGCTTGAAGTTGAACC -3'
(R):5'- ATCCCCTACCATGTGGCTGAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation