Incidental Mutation 'R9031:Adcy5'
| ID |
687097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy5
|
| Ensembl Gene |
ENSMUSG00000022840 |
| Gene Name |
adenylate cyclase 5 |
| Synonyms |
AC5 |
| MMRRC Submission |
068860-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R9031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
34975247-35126108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35119859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1123
(I1123V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
| AlphaFold |
P84309 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114913
AA Change: I1123V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: I1123V
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (81/81) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,810,466 (GRCm39) |
R921H |
probably benign |
Het |
| Agr2 |
G |
C |
12: 36,045,565 (GRCm39) |
G17A |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,188,831 (GRCm39) |
T2082S |
probably benign |
Het |
| Asxl3 |
G |
T |
18: 22,657,401 (GRCm39) |
V1804F |
probably damaging |
Het |
| Atat1 |
A |
G |
17: 36,220,381 (GRCm39) |
V37A |
probably benign |
Het |
| Atp1a3 |
A |
T |
7: 24,689,212 (GRCm39) |
|
probably null |
Het |
| Bpifb1 |
A |
G |
2: 154,051,848 (GRCm39) |
T218A |
probably benign |
Het |
| C030006K11Rik |
T |
A |
15: 76,607,961 (GRCm39) |
Q19L |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,380,893 (GRCm39) |
F508S |
probably damaging |
Het |
| Ccdc81 |
T |
A |
7: 89,542,358 (GRCm39) |
M173L |
probably benign |
Het |
| Cdhr1 |
T |
C |
14: 36,815,976 (GRCm39) |
I141V |
probably benign |
Het |
| Chia1 |
T |
C |
3: 106,035,777 (GRCm39) |
F206L |
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,511,475 (GRCm39) |
G640E |
probably damaging |
Het |
| Clcn7 |
T |
C |
17: 25,376,497 (GRCm39) |
V609A |
probably damaging |
Het |
| Cmklr2 |
T |
C |
1: 63,223,145 (GRCm39) |
E30G |
probably benign |
Het |
| Col22a1 |
C |
A |
15: 71,753,523 (GRCm39) |
G126* |
probably null |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,959,044 (GRCm39) |
D227E |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,417,942 (GRCm39) |
D134G |
probably benign |
Het |
| Cyp2c65 |
C |
A |
19: 39,061,663 (GRCm39) |
C216* |
probably null |
Het |
| Cyp2d12 |
T |
A |
15: 82,443,423 (GRCm39) |
C462S |
probably null |
Het |
| Cyp4a12a |
A |
C |
4: 115,189,199 (GRCm39) |
*509Y |
probably null |
Het |
| Cyp4a12b |
A |
G |
4: 115,290,865 (GRCm39) |
M298V |
probably benign |
Het |
| Dennd4b |
T |
C |
3: 90,178,188 (GRCm39) |
V471A |
probably benign |
Het |
| Dlc1 |
A |
G |
8: 37,405,055 (GRCm39) |
S245P |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 31,001,128 (GRCm39) |
G2406S |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,956,401 (GRCm39) |
K2127R |
probably damaging |
Het |
| Dusp13b |
G |
A |
14: 21,790,233 (GRCm39) |
R38C |
probably benign |
Het |
| Ebf2 |
T |
A |
14: 67,472,594 (GRCm39) |
I4N |
probably benign |
Het |
| Eef1ece2 |
C |
T |
16: 20,459,375 (GRCm39) |
P570L |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,790,908 (GRCm39) |
N723S |
possibly damaging |
Het |
| Galnt15 |
T |
A |
14: 31,770,027 (GRCm39) |
V368E |
probably damaging |
Het |
| Garem2 |
A |
G |
5: 30,313,262 (GRCm39) |
E42G |
possibly damaging |
Het |
| Gcc1 |
C |
T |
6: 28,418,182 (GRCm39) |
S717N |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,309,201 (GRCm39) |
|
probably null |
Het |
| Helb |
T |
C |
10: 119,920,790 (GRCm39) |
D1051G |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,874,261 (GRCm39) |
I2078F |
possibly damaging |
Het |
| Hsph1 |
A |
T |
5: 149,553,270 (GRCm39) |
V297D |
probably damaging |
Het |
| Ifnar1 |
A |
G |
16: 91,302,079 (GRCm39) |
Y518C |
probably benign |
Het |
| Kcnip2 |
T |
A |
19: 45,783,210 (GRCm39) |
D153V |
probably damaging |
Het |
| Kif15 |
A |
T |
9: 122,846,492 (GRCm39) |
|
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,073,042 (GRCm39) |
F147L |
probably damaging |
Het |
| Klhl29 |
T |
C |
12: 5,140,537 (GRCm39) |
R702G |
probably damaging |
Het |
| Lemd3 |
C |
T |
10: 120,767,878 (GRCm39) |
E667K |
possibly damaging |
Het |
| Loxl3 |
T |
C |
6: 83,012,503 (GRCm39) |
L14P |
probably damaging |
Het |
| Lrrd1 |
A |
T |
5: 3,900,963 (GRCm39) |
K423* |
probably null |
Het |
| Mia2 |
A |
G |
12: 59,155,586 (GRCm39) |
D433G |
probably damaging |
Het |
| Mpp2 |
G |
T |
11: 101,954,099 (GRCm39) |
A216E |
probably benign |
Het |
| Mro |
T |
C |
18: 74,009,911 (GRCm39) |
|
probably null |
Het |
| Mybpc1 |
T |
G |
10: 88,358,906 (GRCm39) |
Y1081S |
probably damaging |
Het |
| Myh8 |
T |
G |
11: 67,190,141 (GRCm39) |
S1260R |
possibly damaging |
Het |
| Myo3b |
T |
C |
2: 70,082,094 (GRCm39) |
V618A |
probably damaging |
Het |
| Naip2 |
T |
G |
13: 100,314,776 (GRCm39) |
D334A |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nlrp4c |
T |
C |
7: 6,107,608 (GRCm39) |
*983Q |
probably null |
Het |
| Nlrp9a |
T |
G |
7: 26,257,698 (GRCm39) |
F439V |
probably damaging |
Het |
| Nploc4 |
A |
T |
11: 120,319,368 (GRCm39) |
L64H |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,924,060 (GRCm39) |
E246G |
probably benign |
Het |
| Otof |
G |
A |
5: 30,537,532 (GRCm39) |
S1259F |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,599,675 (GRCm39) |
T2438A |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,686,844 (GRCm39) |
T1242A |
probably damaging |
Het |
| Pink1 |
A |
T |
4: 138,043,056 (GRCm39) |
|
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,251,819 (GRCm39) |
T219A |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,880,458 (GRCm39) |
Y88* |
probably null |
Het |
| Ptpru |
A |
G |
4: 131,515,691 (GRCm39) |
Y888H |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,578,667 (GRCm39) |
N1063S |
probably benign |
Het |
| Slc1a4 |
G |
A |
11: 20,282,532 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,205,568 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
A |
T |
13: 73,819,822 (GRCm39) |
N249K |
possibly damaging |
Het |
| Slco2b1 |
T |
G |
7: 99,338,214 (GRCm39) |
I104L |
probably damaging |
Het |
| Syne3 |
A |
T |
12: 104,905,871 (GRCm39) |
S897R |
probably benign |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Tnni3k |
A |
G |
3: 154,744,146 (GRCm39) |
S69P |
probably damaging |
Het |
| Tnpo2 |
A |
G |
8: 85,780,163 (GRCm39) |
K700E |
probably benign |
Het |
| Top3a |
T |
C |
11: 60,636,695 (GRCm39) |
K657E |
probably damaging |
Het |
| Trgv4 |
C |
T |
13: 19,369,169 (GRCm39) |
Q7* |
probably null |
Het |
| Trim6 |
T |
C |
7: 103,875,159 (GRCm39) |
L132P |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,032,987 (GRCm39) |
T474A |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,234 (GRCm39) |
I142L |
probably benign |
Het |
| Zbtb2 |
A |
T |
10: 4,319,183 (GRCm39) |
F281Y |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,723,433 (GRCm39) |
V1812A |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGACACCCCAGCTGTG -3'
(R):5'- TGCCATTAGACAGACCACAG -3'
Sequencing Primer
(F):5'- ACCCCAGCTGTGTGAGGAAG -3'
(R):5'- TGCCATTAGACAGACCACAGATAGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation