Incidental Mutation 'R0112:Adcy5'
| ID |
20548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy5
|
| Ensembl Gene |
ENSMUSG00000022840 |
| Gene Name |
adenylate cyclase 5 |
| Synonyms |
AC5 |
| MMRRC Submission |
038398-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R0112 (G1)
|
| Quality Score |
94 |
|
Status
|
Validated
(trace)
|
| Chromosome |
16 |
| Chromosomal Location |
34975247-35126108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34976548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 27
(E27G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
| AlphaFold |
P84309 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114913
AA Change: E27G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: E27G
| 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 |
|
| Meta Mutation Damage Score |
0.0640 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
100% (86/86) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,244,815 (GRCm39) |
Y179F |
probably benign |
Het |
| Abcd4 |
A |
G |
12: 84,659,673 (GRCm39) |
|
probably benign |
Het |
| Abhd12b |
C |
T |
12: 70,227,791 (GRCm39) |
T191M |
probably benign |
Het |
| Adgb |
G |
A |
10: 10,282,902 (GRCm39) |
|
probably benign |
Het |
| Afdn |
T |
C |
17: 14,104,899 (GRCm39) |
S1186P |
probably damaging |
Het |
| Atf6b |
G |
T |
17: 34,870,600 (GRCm39) |
R351L |
probably damaging |
Het |
| Axin2 |
T |
C |
11: 108,830,223 (GRCm39) |
S348P |
possibly damaging |
Het |
| Bfsp1 |
A |
C |
2: 143,669,563 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
G |
15: 88,614,586 (GRCm39) |
V103A |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,642,547 (GRCm39) |
K392N |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,321,627 (GRCm39) |
K577R |
probably damaging |
Het |
| Csmd2 |
G |
T |
4: 128,389,822 (GRCm39) |
G2186C |
probably damaging |
Het |
| Cyp2j5 |
A |
T |
4: 96,517,760 (GRCm39) |
M484K |
probably benign |
Het |
| Defb3 |
T |
A |
8: 19,343,423 (GRCm39) |
L12Q |
probably null |
Het |
| Defb7 |
G |
T |
8: 19,545,186 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
T |
A |
2: 158,682,540 (GRCm39) |
M491K |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,965,260 (GRCm39) |
S2261G |
possibly damaging |
Het |
| Dnah5 |
A |
C |
15: 28,263,825 (GRCm39) |
E853D |
probably benign |
Het |
| Dner |
C |
A |
1: 84,560,774 (GRCm39) |
A23S |
probably benign |
Het |
| Dock5 |
A |
C |
14: 68,057,090 (GRCm39) |
S539A |
probably benign |
Het |
| Dsg2 |
T |
A |
18: 20,716,099 (GRCm39) |
F317I |
probably benign |
Het |
| Enox1 |
A |
T |
14: 77,936,638 (GRCm39) |
I539F |
possibly damaging |
Het |
| Eogt |
G |
A |
6: 97,112,245 (GRCm39) |
|
probably benign |
Het |
| Fbxo22 |
A |
G |
9: 55,130,630 (GRCm39) |
T300A |
probably benign |
Het |
| Fes |
T |
C |
7: 80,033,753 (GRCm39) |
D166G |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,648,812 (GRCm39) |
S1366P |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,777,935 (GRCm39) |
|
probably benign |
Het |
| Foxh1 |
T |
C |
15: 76,553,210 (GRCm39) |
H168R |
probably benign |
Het |
| Galnt14 |
T |
G |
17: 73,881,979 (GRCm39) |
|
probably benign |
Het |
| Gdf6 |
A |
G |
4: 9,844,482 (GRCm39) |
D2G |
probably damaging |
Het |
| Gp6 |
C |
A |
7: 4,373,183 (GRCm39) |
A247S |
probably benign |
Het |
| Gp6 |
G |
C |
7: 4,374,626 (GRCm39) |
P232A |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,141,960 (GRCm39) |
Y820H |
probably damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,981,340 (GRCm39) |
T198A |
possibly damaging |
Het |
| Helz |
T |
C |
11: 107,563,774 (GRCm39) |
|
probably benign |
Het |
| Htr1d |
A |
G |
4: 136,170,311 (GRCm39) |
E180G |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,233,429 (GRCm39) |
V1768A |
probably benign |
Het |
| Ints10 |
A |
T |
8: 69,279,954 (GRCm39) |
T694S |
probably damaging |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Lipc |
T |
A |
9: 70,727,709 (GRCm39) |
Y131F |
probably damaging |
Het |
| Litaf |
G |
T |
16: 10,784,375 (GRCm39) |
T45K |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,124,629 (GRCm39) |
R363* |
probably null |
Het |
| Lrrc37a |
A |
T |
11: 103,391,739 (GRCm39) |
Y1229N |
probably benign |
Het |
| Man2a2 |
C |
T |
7: 80,008,024 (GRCm39) |
A943T |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,565,380 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Naalad2 |
G |
T |
9: 18,262,743 (GRCm39) |
Y384* |
probably null |
Het |
| Nat2 |
C |
T |
8: 67,954,378 (GRCm39) |
Q163* |
probably null |
Het |
| Nell2 |
A |
G |
15: 95,329,562 (GRCm39) |
|
probably benign |
Het |
| Nphp3 |
C |
T |
9: 103,914,547 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,869 (GRCm39) |
S46G |
possibly damaging |
Het |
| Or2y13 |
A |
T |
11: 49,414,961 (GRCm39) |
H137L |
possibly damaging |
Het |
| Or52x1 |
A |
T |
7: 104,852,866 (GRCm39) |
M228K |
probably benign |
Het |
| Or5b94 |
C |
T |
19: 12,652,121 (GRCm39) |
T184I |
probably benign |
Het |
| Parg |
C |
A |
14: 31,924,390 (GRCm39) |
A63E |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,245,714 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,544,761 (GRCm39) |
C629R |
probably benign |
Het |
| Rnf145 |
A |
G |
11: 44,454,978 (GRCm39) |
T620A |
probably benign |
Het |
| Rskr |
T |
C |
11: 78,182,507 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
T |
G |
6: 3,376,031 (GRCm39) |
D410A |
possibly damaging |
Het |
| Serpinb9f |
A |
T |
13: 33,511,934 (GRCm39) |
|
probably benign |
Het |
| Slc19a1 |
T |
C |
10: 76,877,999 (GRCm39) |
I178T |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,616,837 (GRCm39) |
Y390F |
probably benign |
Het |
| Speg |
A |
G |
1: 75,361,676 (GRCm39) |
E230G |
possibly damaging |
Het |
| Tbc1d9 |
C |
A |
8: 83,991,466 (GRCm39) |
|
probably benign |
Het |
| Tmem131l |
G |
A |
3: 83,847,894 (GRCm39) |
Q324* |
probably null |
Het |
| Trf |
A |
G |
9: 103,104,155 (GRCm39) |
|
probably benign |
Het |
| Trp53 |
T |
G |
11: 69,479,505 (GRCm39) |
Y202D |
probably damaging |
Het |
| Trpv1 |
T |
A |
11: 73,144,098 (GRCm39) |
M618K |
probably damaging |
Het |
| Trrap |
C |
A |
5: 144,759,571 (GRCm39) |
Y2250* |
probably null |
Het |
| Ttc3 |
A |
G |
16: 94,186,181 (GRCm39) |
|
probably benign |
Het |
| Ubtfl1 |
T |
G |
9: 18,321,083 (GRCm39) |
S204A |
probably benign |
Het |
| Uck2 |
A |
T |
1: 167,055,340 (GRCm39) |
Y203N |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,562,209 (GRCm39) |
L1280* |
probably null |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,609 (GRCm39) |
H146L |
possibly damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,897 (GRCm39) |
M209V |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,990,991 (GRCm39) |
T790I |
probably damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,463,866 (GRCm39) |
R808L |
probably benign |
Het |
| Zbtb7c |
A |
T |
18: 76,269,962 (GRCm39) |
S17C |
probably damaging |
Het |
| Zfp811 |
C |
T |
17: 33,016,738 (GRCm39) |
R434Q |
probably damaging |
Het |
| Zkscan6 |
A |
T |
11: 65,705,689 (GRCm39) |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTCGCTGCTCTCGGCTTAG -3'
(R):5'- AGCCAGAGGGTCATCACCGCTTAG -3'
Sequencing Primer
(F):5'- GGACTCTGGACTCTAATTCGTAGC -3'
(R):5'- GTCATCACCGCTTAGTGGAG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation