Incidental Mutation 'R7718:Adcy5'
ID |
595066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy5
|
Ensembl Gene |
ENSMUSG00000022840 |
Gene Name |
adenylate cyclase 5 |
Synonyms |
AC5 |
MMRRC Submission |
045775-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.183)
|
Stock # |
R7718 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
34975247-35126108 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35100785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 779
(V779A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
AlphaFold |
P84309 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000114913
AA Change: V779A
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000110563 Gene: ENSMUSG00000022840 AA Change: V779A
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: 99.1%
|
Validation Efficiency |
99% (77/78) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
A |
T |
5: 138,646,122 (GRCm39) |
H669L |
possibly damaging |
Het |
Abcb1a |
A |
T |
5: 8,765,788 (GRCm39) |
N700I |
probably damaging |
Het |
Abcc6 |
T |
C |
7: 45,626,816 (GRCm39) |
K1414E |
possibly damaging |
Het |
Agap2 |
A |
G |
10: 126,915,734 (GRCm39) |
S82G |
possibly damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,575,305 (GRCm39) |
N864S |
probably damaging |
Het |
Ang2 |
A |
T |
14: 51,433,217 (GRCm39) |
V55E |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,758,662 (GRCm39) |
M179T |
possibly damaging |
Het |
Atrnl1 |
T |
A |
19: 57,728,615 (GRCm39) |
C1090* |
probably null |
Het |
Atxn1l |
A |
G |
8: 110,459,866 (GRCm39) |
L132P |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,972,282 (GRCm39) |
V862A |
possibly damaging |
Het |
Capn11 |
C |
A |
17: 45,954,707 (GRCm39) |
K143N |
probably damaging |
Het |
Card6 |
A |
G |
15: 5,129,269 (GRCm39) |
V709A |
possibly damaging |
Het |
Cavin4 |
C |
T |
4: 48,671,984 (GRCm39) |
A143V |
probably benign |
Het |
Cntn5 |
A |
G |
9: 9,984,133 (GRCm39) |
I160T |
probably benign |
Het |
Cyp2c40 |
T |
A |
19: 39,755,782 (GRCm39) |
N511Y |
probably benign |
Het |
Dsc2 |
A |
T |
18: 20,174,835 (GRCm39) |
I480N |
probably damaging |
Het |
Elf2 |
G |
T |
3: 51,173,385 (GRCm39) |
|
probably benign |
Het |
Enoph1 |
T |
C |
5: 100,210,019 (GRCm39) |
V133A |
possibly damaging |
Het |
Ezh2 |
A |
T |
6: 47,531,125 (GRCm39) |
D186E |
probably benign |
Het |
Fcgbpl1 |
T |
C |
7: 27,846,626 (GRCm39) |
F1106S |
probably damaging |
Het |
Gfra1 |
T |
C |
19: 58,441,889 (GRCm39) |
D14G |
possibly damaging |
Het |
Gmip |
C |
T |
8: 70,270,383 (GRCm39) |
R698W |
probably damaging |
Het |
Grk4 |
A |
G |
5: 34,852,160 (GRCm39) |
N135D |
probably benign |
Het |
Hspb6 |
A |
G |
7: 30,253,772 (GRCm39) |
D95G |
probably benign |
Het |
Htatip2 |
T |
G |
7: 49,420,632 (GRCm39) |
H159Q |
possibly damaging |
Het |
Igfn1 |
T |
C |
1: 135,896,774 (GRCm39) |
E1264G |
probably benign |
Het |
Insyn2b |
T |
C |
11: 34,352,539 (GRCm39) |
S194P |
probably benign |
Het |
Katnb1 |
T |
A |
8: 95,821,836 (GRCm39) |
V223E |
possibly damaging |
Het |
Klra6 |
AGG |
AG |
6: 129,990,315 (GRCm39) |
|
probably null |
Het |
Masp2 |
C |
T |
4: 148,687,204 (GRCm39) |
R29C |
probably damaging |
Het |
Mcm3 |
A |
T |
1: 20,887,498 (GRCm39) |
C123* |
probably null |
Het |
Mdn1 |
T |
C |
4: 32,718,420 (GRCm39) |
V2225A |
probably damaging |
Het |
Me1 |
A |
G |
9: 86,561,953 (GRCm39) |
L44S |
probably damaging |
Het |
Mlxip |
A |
G |
5: 123,583,577 (GRCm39) |
N380S |
probably benign |
Het |
Muc21 |
T |
C |
17: 35,933,728 (GRCm39) |
T153A |
unknown |
Het |
Myh14 |
C |
T |
7: 44,310,464 (GRCm39) |
V140I |
probably damaging |
Het |
Myocd |
A |
T |
11: 65,109,452 (GRCm39) |
D106E |
probably damaging |
Het |
Oat |
T |
C |
7: 132,159,988 (GRCm39) |
I411V |
probably benign |
Het |
Or2d2 |
A |
T |
7: 106,727,925 (GRCm39) |
V225D |
probably damaging |
Het |
Or5p59 |
T |
C |
7: 107,702,855 (GRCm39) |
V113A |
probably benign |
Het |
Or8k38 |
A |
G |
2: 86,488,373 (GRCm39) |
V143A |
probably benign |
Het |
Orc2 |
A |
T |
1: 58,519,476 (GRCm39) |
H246Q |
possibly damaging |
Het |
Pank4 |
A |
G |
4: 155,059,100 (GRCm39) |
E411G |
probably damaging |
Het |
Patl2 |
A |
T |
2: 121,957,255 (GRCm39) |
|
probably null |
Het |
Pcdhb15 |
A |
G |
18: 37,608,216 (GRCm39) |
N483D |
probably damaging |
Het |
Pcdhb20 |
A |
G |
18: 37,638,704 (GRCm39) |
D410G |
probably damaging |
Het |
Pdcl2 |
A |
G |
5: 76,465,846 (GRCm39) |
C125R |
probably damaging |
Het |
Peli3 |
C |
G |
19: 4,984,584 (GRCm39) |
|
probably null |
Het |
Pkd1 |
A |
G |
17: 24,805,474 (GRCm39) |
D3313G |
probably benign |
Het |
Plec |
A |
C |
15: 76,061,639 (GRCm39) |
M2766R |
probably damaging |
Het |
Ppargc1a |
C |
T |
5: 51,655,504 (GRCm39) |
V99M |
probably damaging |
Het |
Prr35 |
T |
A |
17: 26,165,998 (GRCm39) |
R430* |
probably null |
Het |
Psg19 |
G |
A |
7: 18,526,368 (GRCm39) |
A374V |
probably benign |
Het |
Psmd7 |
A |
T |
8: 108,313,261 (GRCm39) |
F54L |
possibly damaging |
Het |
Ptbp2 |
C |
T |
3: 119,514,637 (GRCm39) |
G397R |
probably null |
Het |
Ranbp3 |
A |
G |
17: 57,003,718 (GRCm39) |
D39G |
probably damaging |
Het |
Rcor3 |
T |
C |
1: 191,786,021 (GRCm39) |
T406A |
probably benign |
Het |
Rhbdl2 |
T |
A |
4: 123,718,712 (GRCm39) |
I222K |
probably damaging |
Het |
Ripk2 |
T |
C |
4: 16,151,968 (GRCm39) |
N197S |
possibly damaging |
Het |
Rpia |
A |
T |
6: 70,743,602 (GRCm39) |
M283K |
probably damaging |
Het |
Rps6kc1 |
T |
C |
1: 190,604,022 (GRCm39) |
D200G |
probably benign |
Het |
Sipa1l1 |
A |
T |
12: 82,389,271 (GRCm39) |
K499M |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,906,407 (GRCm39) |
L404P |
probably damaging |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Spmip4 |
G |
A |
6: 50,566,078 (GRCm39) |
|
probably null |
Het |
St7 |
A |
C |
6: 17,854,998 (GRCm39) |
T312P |
probably damaging |
Het |
Strbp |
T |
C |
2: 37,515,294 (GRCm39) |
E244G |
probably damaging |
Het |
Tbc1d8 |
T |
G |
1: 39,416,061 (GRCm39) |
T871P |
probably benign |
Het |
Tcp1 |
T |
A |
17: 13,141,049 (GRCm39) |
I286N |
probably damaging |
Het |
Tead3 |
C |
A |
17: 28,552,491 (GRCm39) |
V327F |
probably damaging |
Het |
Tmem132c |
A |
T |
5: 127,640,504 (GRCm39) |
T892S |
probably benign |
Het |
Trmt2a |
T |
C |
16: 18,068,487 (GRCm39) |
S65P |
probably benign |
Het |
Ubp1 |
A |
G |
9: 113,802,597 (GRCm39) |
N479S |
possibly damaging |
Het |
Ubtfl1 |
A |
T |
9: 18,320,527 (GRCm39) |
L18F |
possibly damaging |
Het |
Uevld |
T |
G |
7: 46,587,804 (GRCm39) |
M299L |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,173,854 (GRCm39) |
Y1561N |
unknown |
Het |
Ylpm1 |
A |
G |
12: 85,075,896 (GRCm39) |
K874E |
probably damaging |
Het |
Zbtb37 |
G |
A |
1: 160,859,802 (GRCm39) |
R168W |
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 |
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 |
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'- TCTGTGTAAGCCCAGCTCTG -3'
(R):5'- AGGAGTCTCTTGTGCAACTG -3'
Sequencing Primer
(F):5'- AGCTCTGGTCTCCATGTGTCATG -3'
(R):5'- CTGAGAATTGCCCAGTGAGGTC -3'
|
Posted On |
2019-11-12 |