Incidental Mutation 'IGL02814:Adcy5'
| ID |
360725 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adcy5
|
| Ensembl Gene |
ENSMUSG00000022840 |
| Gene Name |
adenylate cyclase 5 |
| Synonyms |
AC5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
IGL02814
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
34975247-35126108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35124019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1233
(T1233A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
| AlphaFold |
P84309 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114913
AA Change: T1233A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: T1233A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
368 |
N/A |
INTRINSIC |
|
CYCc
|
424 |
623 |
2.62e-69 |
SMART |
|
Pfam:DUF1053
|
669 |
762 |
1.8e-30 |
PFAM |
|
transmembrane domain
|
794 |
816 |
N/A |
INTRINSIC |
|
transmembrane domain
|
837 |
856 |
N/A |
INTRINSIC |
|
transmembrane domain
|
910 |
932 |
N/A |
INTRINSIC |
|
transmembrane domain
|
934 |
956 |
N/A |
INTRINSIC |
|
transmembrane domain
|
985 |
1004 |
N/A |
INTRINSIC |
|
CYCc
|
1032 |
1240 |
2.98e-50 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Targeted inactivation of this gene has been shown to result in motor dysfunction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,045,293 (GRCm39) |
F347I |
possibly damaging |
Het |
| Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,321,706 (GRCm39) |
E1083G |
probably damaging |
Het |
| Capn8 |
C |
A |
1: 182,426,336 (GRCm39) |
L224M |
probably damaging |
Het |
| Cdh4 |
A |
T |
2: 179,422,267 (GRCm39) |
E130D |
probably benign |
Het |
| Cgn |
G |
A |
3: 94,681,550 (GRCm39) |
T515M |
probably benign |
Het |
| Chrna10 |
C |
T |
7: 101,761,469 (GRCm39) |
G374D |
probably benign |
Het |
| Chrnb1 |
T |
A |
11: 69,686,506 (GRCm39) |
Y38F |
probably damaging |
Het |
| Cyld |
A |
G |
8: 89,471,525 (GRCm39) |
D621G |
probably benign |
Het |
| Cyp4f37 |
T |
C |
17: 32,853,645 (GRCm39) |
F443S |
probably benign |
Het |
| Dctn1 |
C |
A |
6: 83,166,896 (GRCm39) |
A152E |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,748,791 (GRCm39) |
Y228* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,242,839 (GRCm39) |
C846* |
probably null |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,420,345 (GRCm39) |
S833G |
possibly damaging |
Het |
| Gda |
T |
C |
19: 21,405,839 (GRCm39) |
|
probably null |
Het |
| Gjb5 |
C |
T |
4: 127,249,355 (GRCm39) |
R263Q |
probably benign |
Het |
| Gtf2i |
T |
C |
5: 134,315,558 (GRCm39) |
K193E |
probably damaging |
Het |
| H4c14 |
C |
A |
3: 96,170,603 (GRCm39) |
K6N |
probably benign |
Het |
| Ints1 |
C |
T |
5: 139,758,146 (GRCm39) |
E244K |
possibly damaging |
Het |
| Kat14 |
G |
A |
2: 144,244,383 (GRCm39) |
S412N |
probably benign |
Het |
| Kcnn3 |
A |
T |
3: 89,428,482 (GRCm39) |
H236L |
possibly damaging |
Het |
| Kif15 |
T |
A |
9: 122,832,705 (GRCm39) |
I1005K |
possibly damaging |
Het |
| Klrc1 |
T |
C |
6: 129,655,855 (GRCm39) |
T7A |
possibly damaging |
Het |
| Lcp2 |
T |
C |
11: 34,021,033 (GRCm39) |
S130P |
probably damaging |
Het |
| Ldha |
T |
A |
7: 46,500,315 (GRCm39) |
Y133* |
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,337,080 (GRCm39) |
C1231R |
probably damaging |
Het |
| Lrrn1 |
T |
A |
6: 107,544,313 (GRCm39) |
V37D |
probably damaging |
Het |
| Mep1a |
T |
A |
17: 43,788,112 (GRCm39) |
H648L |
probably benign |
Het |
| Mmp25 |
C |
T |
17: 23,858,736 (GRCm39) |
G272R |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,965,801 (GRCm39) |
|
probably benign |
Het |
| Myl3 |
G |
T |
9: 110,597,059 (GRCm39) |
E140* |
probably null |
Het |
| Nlrp4f |
A |
G |
13: 65,332,856 (GRCm39) |
S809P |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,110,394 (GRCm39) |
I207M |
probably null |
Het |
| Or13a26 |
T |
C |
7: 140,285,046 (GRCm39) |
L294P |
probably damaging |
Het |
| Or2y8 |
C |
T |
11: 52,035,637 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or5p54 |
T |
C |
7: 107,553,977 (GRCm39) |
I43T |
probably benign |
Het |
| Paics |
T |
G |
5: 77,110,320 (GRCm39) |
V245G |
probably damaging |
Het |
| Pank1 |
A |
G |
19: 34,818,255 (GRCm39) |
F95L |
probably damaging |
Het |
| Pde4dip |
A |
C |
3: 97,674,416 (GRCm39) |
C167G |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,840,957 (GRCm39) |
T542K |
possibly damaging |
Het |
| Piezo1 |
A |
G |
8: 123,224,954 (GRCm39) |
Y651H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,289,353 (GRCm39) |
C1208* |
probably null |
Het |
| Pkd1l1 |
T |
A |
11: 8,852,582 (GRCm39) |
T634S |
probably benign |
Het |
| Rab32 |
T |
C |
10: 10,422,171 (GRCm39) |
T183A |
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,621,583 (GRCm39) |
I206V |
possibly damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,975 (GRCm39) |
I398V |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,159,725 (GRCm39) |
E101G |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,310,434 (GRCm39) |
L388P |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,339,588 (GRCm39) |
Y129C |
probably damaging |
Het |
| Slc7a13 |
G |
A |
4: 19,839,387 (GRCm39) |
C330Y |
probably benign |
Het |
| Spock1 |
A |
T |
13: 57,735,486 (GRCm39) |
V101E |
probably damaging |
Het |
| Sympk |
T |
A |
7: 18,787,198 (GRCm39) |
W1029R |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,992,150 (GRCm39) |
H2008Q |
possibly damaging |
Het |
| Tgs1 |
T |
A |
4: 3,585,719 (GRCm39) |
Y199N |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 37,188,228 (GRCm39) |
C481* |
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,898,170 (GRCm39) |
E395G |
probably damaging |
Het |
| Wfs1 |
A |
C |
5: 37,125,013 (GRCm39) |
V626G |
possibly damaging |
Het |
| Zfp689 |
A |
G |
7: 127,044,193 (GRCm39) |
S146P |
possibly damaging |
Het |
| Zfp786 |
T |
C |
6: 47,796,775 (GRCm39) |
H721R |
probably damaging |
Het |
| Zfta |
C |
A |
19: 7,397,787 (GRCm39) |
N111K |
possibly damaging |
Het |
|
| Other mutations in Adcy5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Adcy5
|
APN |
16 |
35,073,583 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01583:Adcy5
|
APN |
16 |
35,103,883 (GRCm39) |
splice site |
probably benign |
|
|
IGL01608:Adcy5
|
APN |
16 |
35,092,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02097:Adcy5
|
APN |
16 |
35,092,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02122:Adcy5
|
APN |
16 |
35,103,982 (GRCm39) |
splice site |
probably benign |
|
|
IGL02532:Adcy5
|
APN |
16 |
35,092,453 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02877:Adcy5
|
APN |
16 |
35,118,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03026:Adcy5
|
APN |
16 |
34,977,412 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03345:Adcy5
|
APN |
16 |
35,069,184 (GRCm39) |
missense |
probably benign |
0.05 |
|
H8562:Adcy5
|
UTSW |
16 |
35,087,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Adcy5
|
UTSW |
16 |
35,087,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0050:Adcy5
|
UTSW |
16 |
35,124,673 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0091:Adcy5
|
UTSW |
16 |
35,091,368 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0112:Adcy5
|
UTSW |
16 |
34,976,548 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0398:Adcy5
|
UTSW |
16 |
35,089,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0457:Adcy5
|
UTSW |
16 |
35,094,915 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0554:Adcy5
|
UTSW |
16 |
35,114,387 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0698:Adcy5
|
UTSW |
16 |
35,110,452 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0761:Adcy5
|
UTSW |
16 |
35,091,195 (GRCm39) |
splice site |
probably benign |
|
|
R0865:Adcy5
|
UTSW |
16 |
35,094,841 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0927:Adcy5
|
UTSW |
16 |
34,976,613 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0945:Adcy5
|
UTSW |
16 |
35,110,481 (GRCm39) |
missense |
probably benign |
|
|
R1534:Adcy5
|
UTSW |
16 |
35,073,629 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1565:Adcy5
|
UTSW |
16 |
35,089,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Adcy5
|
UTSW |
16 |
35,118,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Adcy5
|
UTSW |
16 |
35,069,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2047:Adcy5
|
UTSW |
16 |
35,110,478 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3052:Adcy5
|
UTSW |
16 |
35,124,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3053:Adcy5
|
UTSW |
16 |
35,124,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3827:Adcy5
|
UTSW |
16 |
35,110,467 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4398:Adcy5
|
UTSW |
16 |
35,089,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Adcy5
|
UTSW |
16 |
35,099,586 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4965:Adcy5
|
UTSW |
16 |
35,098,872 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5229:Adcy5
|
UTSW |
16 |
35,089,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5456:Adcy5
|
UTSW |
16 |
35,118,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Adcy5
|
UTSW |
16 |
34,977,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5757:Adcy5
|
UTSW |
16 |
35,092,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5959:Adcy5
|
UTSW |
16 |
35,118,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6011:Adcy5
|
UTSW |
16 |
34,977,598 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6277:Adcy5
|
UTSW |
16 |
35,109,896 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6296:Adcy5
|
UTSW |
16 |
35,124,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Adcy5
|
UTSW |
16 |
35,114,369 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6431:Adcy5
|
UTSW |
16 |
35,099,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6685:Adcy5
|
UTSW |
16 |
35,099,586 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6728:Adcy5
|
UTSW |
16 |
34,977,535 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6755:Adcy5
|
UTSW |
16 |
35,124,004 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6887:Adcy5
|
UTSW |
16 |
35,118,960 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7029:Adcy5
|
UTSW |
16 |
35,120,018 (GRCm39) |
missense |
probably null |
0.91 |
|
R7047:Adcy5
|
UTSW |
16 |
35,087,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7050:Adcy5
|
UTSW |
16 |
35,124,070 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7102:Adcy5
|
UTSW |
16 |
35,119,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7150:Adcy5
|
UTSW |
16 |
35,118,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Adcy5
|
UTSW |
16 |
34,977,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Adcy5
|
UTSW |
16 |
35,092,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Adcy5
|
UTSW |
16 |
35,091,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7718:Adcy5
|
UTSW |
16 |
35,100,785 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7834:Adcy5
|
UTSW |
16 |
34,977,570 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8172:Adcy5
|
UTSW |
16 |
34,977,427 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8772:Adcy5
|
UTSW |
16 |
35,119,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8983:Adcy5
|
UTSW |
16 |
34,977,232 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9031:Adcy5
|
UTSW |
16 |
35,119,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9070:Adcy5
|
UTSW |
16 |
35,100,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9149:Adcy5
|
UTSW |
16 |
35,092,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9190:Adcy5
|
UTSW |
16 |
35,089,364 (GRCm39) |
nonsense |
probably null |
|
|
R9256:Adcy5
|
UTSW |
16 |
35,124,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9557:Adcy5
|
UTSW |
16 |
35,091,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Adcy5
|
UTSW |
16 |
35,100,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7732:Adcy5
|
UTSW |
16 |
35,103,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:Adcy5
|
UTSW |
16 |
35,119,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Adcy5
|
UTSW |
16 |
35,111,914 (GRCm39) |
missense |
not run |
|
|
Z1176:Adcy5
|
UTSW |
16 |
35,110,555 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Adcy5
|
UTSW |
16 |
34,976,691 (GRCm39) |
missense |
unknown |
|
|
Z1177:Adcy5
|
UTSW |
16 |
35,111,914 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation