Incidental Mutation 'PIT4243001:Adcy9'
| ID |
554471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy9
|
| Ensembl Gene |
ENSMUSG00000005580 |
| Gene Name |
adenylate cyclase 9 |
| Synonyms |
ACtp10, D16Wsu65e |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
PIT4243001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4105393-4238362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4236271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 380
(I380T)
|
| 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: I380T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: I380T
| 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: I380T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: I380T
| 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: I143T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: I143T
| 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: 92.7%
- 3x: 90.5%
- 10x: 85.2%
- 20x: 74.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,999 (GRCm39) |
E252V |
possibly damaging |
Het |
| Abhd13 |
T |
C |
8: 10,037,967 (GRCm39) |
F188S |
possibly damaging |
Het |
| Abtb1 |
A |
G |
6: 88,815,708 (GRCm39) |
V225A |
probably benign |
Het |
| Accs |
A |
G |
2: 93,671,679 (GRCm39) |
M237T |
probably benign |
Het |
| Add3 |
T |
C |
19: 53,225,121 (GRCm39) |
S414P |
probably benign |
Het |
| Ak3 |
C |
T |
19: 29,015,271 (GRCm39) |
|
probably null |
Het |
| Atg14 |
T |
C |
14: 47,792,031 (GRCm39) |
E132G |
possibly damaging |
Het |
| Bcl2l11 |
A |
G |
2: 127,989,026 (GRCm39) |
E135G |
probably benign |
Het |
| Brwd1 |
G |
A |
16: 95,803,871 (GRCm39) |
Q2100* |
probably null |
Het |
| Card11 |
A |
C |
5: 140,894,359 (GRCm39) |
V90G |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,709,507 (GRCm39) |
V1451A |
probably benign |
Het |
| Clip4 |
T |
C |
17: 72,113,723 (GRCm39) |
I291T |
probably damaging |
Het |
| Clk1 |
C |
T |
1: 58,458,836 (GRCm39) |
D179N |
probably damaging |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,302 (GRCm39) |
L454P |
probably damaging |
Het |
| Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,883,446 (GRCm39) |
S663P |
unknown |
Het |
| Erich6 |
G |
A |
3: 58,537,300 (GRCm39) |
T238I |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,489 (GRCm39) |
H132Q |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,707,858 (GRCm39) |
C704R |
probably damaging |
Het |
| Ift74 |
A |
T |
4: 94,575,141 (GRCm39) |
R531W |
possibly damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,832 (GRCm39) |
E71G |
probably benign |
Het |
| Lipe |
A |
C |
7: 25,094,971 (GRCm39) |
S22A |
probably benign |
Het |
| Myl10 |
A |
G |
5: 136,723,147 (GRCm39) |
D32G |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,693,705 (GRCm39) |
H179R |
probably damaging |
Het |
| Or1ad6 |
T |
C |
11: 50,860,379 (GRCm39) |
F178S |
probably damaging |
Het |
| Or2n1b |
T |
C |
17: 38,460,394 (GRCm39) |
F305S |
probably benign |
Het |
| Pdpn |
T |
A |
4: 142,997,108 (GRCm39) |
T129S |
probably damaging |
Het |
| Pold1 |
C |
T |
7: 44,191,582 (GRCm39) |
V135I |
possibly damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,807,134 (GRCm39) |
N199K |
probably damaging |
Het |
| Skil |
T |
C |
3: 31,167,714 (GRCm39) |
S449P |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 69,892,540 (GRCm39) |
L107P |
probably damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,087 (GRCm39) |
M430T |
probably damaging |
Het |
| Tnfaip3 |
G |
A |
10: 18,887,322 (GRCm39) |
L68F |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,733,781 (GRCm39) |
R878H |
probably benign |
Het |
| Vasn |
T |
C |
16: 4,467,480 (GRCm39) |
S476P |
probably damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,802,379 (GRCm39) |
M499L |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,638,631 (GRCm39) |
T571A |
probably damaging |
Het |
| Zfp608 |
C |
A |
18: 55,031,096 (GRCm39) |
G948V |
probably damaging |
Het |
| Zswim5 |
A |
G |
4: 116,841,975 (GRCm39) |
I852V |
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 |
|
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 |
|
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'- CAGAGTGCTGATCTTCTCACAC -3'
(R):5'- CCAGGAGCACCTTTCTCAAG -3'
Sequencing Primer
(F):5'- ACACTTGGTCTGCTCACACAGG -3'
(R):5'- TTCTCAAGGTGGGACAATCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation