Incidental Mutation 'IGL01583:Adcy5'
ID |
91455 |
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 # |
IGL01583
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
34975247-35126108 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 35103883 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
AlphaFold |
P84309 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000114913
|
SMART Domains |
Protein: ENSMUSP00000110563 Gene: ENSMUSG00000022840
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231960
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,126,753 (GRCm39) |
M329K |
possibly damaging |
Het |
Abce1 |
G |
A |
8: 80,420,076 (GRCm39) |
T300M |
probably damaging |
Het |
Acap1 |
G |
A |
11: 69,772,503 (GRCm39) |
S536L |
probably damaging |
Het |
Ap2b1 |
G |
T |
11: 83,215,437 (GRCm39) |
R127L |
possibly damaging |
Het |
Asxl3 |
T |
G |
18: 22,649,654 (GRCm39) |
S548A |
probably benign |
Het |
Atm |
G |
A |
9: 53,395,547 (GRCm39) |
|
probably benign |
Het |
Cep250 |
T |
C |
2: 155,818,069 (GRCm39) |
V807A |
probably damaging |
Het |
Ces1g |
T |
A |
8: 94,033,587 (GRCm39) |
Y445F |
probably damaging |
Het |
Cnksr3 |
A |
G |
10: 7,070,512 (GRCm39) |
Y241H |
probably benign |
Het |
Col9a1 |
T |
C |
1: 24,224,225 (GRCm39) |
S136P |
unknown |
Het |
Cux2 |
C |
A |
5: 122,012,170 (GRCm39) |
G422W |
probably damaging |
Het |
Cyp1a2 |
A |
T |
9: 57,589,655 (GRCm39) |
M53K |
probably benign |
Het |
Ddx20 |
T |
C |
3: 105,593,986 (GRCm39) |
D123G |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,860,466 (GRCm39) |
L1284* |
probably null |
Het |
Dpp9 |
A |
C |
17: 56,518,666 (GRCm39) |
L46R |
probably benign |
Het |
Elavl1 |
A |
T |
8: 4,351,699 (GRCm39) |
V139E |
probably damaging |
Het |
Fndc3b |
T |
C |
3: 27,483,144 (GRCm39) |
Y1018C |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,921,261 (GRCm39) |
N78D |
possibly damaging |
Het |
Fubp3 |
C |
T |
2: 31,501,755 (GRCm39) |
|
probably benign |
Het |
Gbx2 |
C |
A |
1: 89,856,559 (GRCm39) |
R277L |
probably damaging |
Het |
Gm128 |
T |
C |
3: 95,148,094 (GRCm39) |
R67G |
possibly damaging |
Het |
Gpc2 |
T |
A |
5: 138,273,792 (GRCm39) |
R469W |
probably damaging |
Het |
Ifi30 |
G |
A |
8: 71,217,407 (GRCm39) |
|
probably benign |
Het |
Kbtbd4 |
T |
C |
2: 90,736,252 (GRCm39) |
S88P |
probably damaging |
Het |
Kif23 |
A |
T |
9: 61,842,750 (GRCm39) |
Y216N |
probably damaging |
Het |
Lgals4 |
A |
G |
7: 28,540,973 (GRCm39) |
D299G |
probably damaging |
Het |
Lmx1b |
A |
G |
2: 33,459,071 (GRCm39) |
S161P |
probably benign |
Het |
Lrcol1 |
T |
A |
5: 110,502,444 (GRCm39) |
S107T |
probably benign |
Het |
Lrrc28 |
A |
T |
7: 67,195,223 (GRCm39) |
|
probably null |
Het |
Ncoa4 |
T |
C |
14: 31,894,884 (GRCm39) |
V42A |
probably benign |
Het |
Nkd2 |
C |
T |
13: 73,969,599 (GRCm39) |
S277N |
probably benign |
Het |
Nlrp2 |
A |
T |
7: 5,340,769 (GRCm39) |
L15Q |
probably damaging |
Het |
Nynrin |
T |
G |
14: 56,107,968 (GRCm39) |
L1025R |
probably damaging |
Het |
Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
Or5w1 |
G |
T |
2: 87,486,757 (GRCm39) |
C169* |
probably null |
Het |
Piwil4 |
A |
T |
9: 14,645,783 (GRCm39) |
F152I |
probably damaging |
Het |
Plod3 |
T |
C |
5: 137,025,002 (GRCm39) |
S705P |
probably benign |
Het |
Ppp2r2c |
T |
A |
5: 37,026,166 (GRCm39) |
M1K |
probably null |
Het |
Rgs19 |
T |
C |
2: 181,331,246 (GRCm39) |
E129G |
probably damaging |
Het |
Rpap2 |
T |
A |
5: 107,768,061 (GRCm39) |
S223T |
probably damaging |
Het |
Shox2 |
T |
C |
3: 66,881,104 (GRCm39) |
|
probably benign |
Het |
Slc30a4 |
T |
C |
2: 122,527,137 (GRCm39) |
I370V |
probably benign |
Het |
Slco1b2 |
A |
G |
6: 141,609,398 (GRCm39) |
I269M |
possibly damaging |
Het |
Slco1c1 |
A |
G |
6: 141,485,793 (GRCm39) |
Y142C |
probably damaging |
Het |
Slco3a1 |
T |
C |
7: 73,934,198 (GRCm39) |
N658S |
probably benign |
Het |
Sos1 |
A |
T |
17: 80,741,329 (GRCm39) |
S485R |
probably benign |
Het |
Srpk1 |
A |
G |
17: 28,825,291 (GRCm39) |
L127P |
probably damaging |
Het |
St3gal6 |
T |
A |
16: 58,314,033 (GRCm39) |
|
probably benign |
Het |
Stk4 |
T |
A |
2: 163,916,134 (GRCm39) |
M1K |
probably null |
Het |
Tbc1d12 |
A |
G |
19: 38,871,176 (GRCm39) |
E313G |
probably benign |
Het |
Tbk1 |
A |
G |
10: 121,393,134 (GRCm39) |
I472T |
probably benign |
Het |
Tiam1 |
G |
A |
16: 89,586,168 (GRCm39) |
R849W |
probably damaging |
Het |
Tle3 |
A |
G |
9: 61,317,307 (GRCm39) |
T381A |
probably benign |
Het |
Tmem82 |
T |
G |
4: 141,341,954 (GRCm39) |
T337P |
probably benign |
Het |
Tmprss15 |
T |
C |
16: 78,868,149 (GRCm39) |
T220A |
probably benign |
Het |
Ung |
A |
G |
5: 114,275,369 (GRCm39) |
K242E |
possibly damaging |
Het |
Vmn1r211 |
A |
T |
13: 23,036,571 (GRCm39) |
M32K |
probably benign |
Het |
Vps13d |
T |
G |
4: 144,771,658 (GRCm39) |
D956A |
probably damaging |
Het |
Wdr64 |
T |
A |
1: 175,594,722 (GRCm39) |
|
probably null |
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 |
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 |
IGL02814:Adcy5
|
APN |
16 |
35,124,019 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
2013-12-09 |