Incidental Mutation 'R6755:Adcy5'
| ID |
531040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy5
|
| Ensembl Gene |
ENSMUSG00000022840 |
| Gene Name |
adenylate cyclase 5 |
| Synonyms |
AC5 |
| MMRRC Submission |
044871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R6755 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
34975247-35126108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35124004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 1228
(V1228M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
| AlphaFold |
P84309 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114913
AA Change: V1228M
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: V1228M
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,475,994 (GRCm39) |
T1101M |
probably benign |
Het |
| 4930433I11Rik |
T |
C |
7: 40,643,734 (GRCm39) |
S468P |
probably damaging |
Het |
| Adam33 |
A |
G |
2: 130,895,069 (GRCm39) |
V637A |
probably damaging |
Het |
| Ahi1 |
G |
T |
10: 20,893,812 (GRCm39) |
V848F |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| B4galt6 |
T |
C |
18: 20,822,386 (GRCm39) |
E264G |
probably benign |
Het |
| Bpifb4 |
A |
G |
2: 153,799,658 (GRCm39) |
T556A |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,938,082 (GRCm39) |
S64T |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,826,817 (GRCm39) |
S467P |
probably benign |
Het |
| Cables1 |
G |
T |
18: 12,072,882 (GRCm39) |
S479I |
probably null |
Het |
| Cbl |
T |
C |
9: 44,084,671 (GRCm39) |
I155V |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,345,880 (GRCm39) |
D297G |
probably damaging |
Het |
| Cdk8 |
T |
A |
5: 146,205,126 (GRCm39) |
H102Q |
probably damaging |
Het |
| Cpn2 |
A |
T |
16: 30,079,149 (GRCm39) |
L184Q |
probably damaging |
Het |
| Ctso |
T |
A |
3: 81,849,609 (GRCm39) |
H109Q |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,512,490 (GRCm39) |
E299G |
probably damaging |
Het |
| Elp6 |
A |
G |
9: 110,144,893 (GRCm39) |
E150G |
possibly damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Fbn2 |
A |
G |
18: 58,246,405 (GRCm39) |
L499S |
possibly damaging |
Het |
| Fgf10 |
C |
A |
13: 118,925,821 (GRCm39) |
A200D |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,691,915 (GRCm39) |
E407G |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,556,891 (GRCm39) |
V232A |
probably damaging |
Het |
| Ift172 |
T |
A |
5: 31,418,342 (GRCm39) |
K1214* |
probably null |
Het |
| Il20ra |
T |
C |
10: 19,626,542 (GRCm39) |
Y189H |
probably benign |
Het |
| Isg20l2 |
T |
A |
3: 87,838,996 (GRCm39) |
I69N |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,398,199 (GRCm39) |
D675G |
probably benign |
Het |
| Klhdc7a |
T |
A |
4: 139,693,786 (GRCm39) |
D387V |
possibly damaging |
Het |
| Lrrc4 |
T |
C |
6: 28,831,292 (GRCm39) |
N108D |
probably damaging |
Het |
| Ltbp2 |
T |
A |
12: 84,841,847 (GRCm39) |
E944V |
probably damaging |
Het |
| Magi1 |
C |
T |
6: 93,685,158 (GRCm39) |
S740N |
probably damaging |
Het |
| Med26 |
A |
G |
8: 73,249,677 (GRCm39) |
I474T |
probably damaging |
Het |
| Mgst1 |
T |
A |
6: 138,124,770 (GRCm39) |
M68K |
probably damaging |
Het |
| Myh7 |
G |
A |
14: 55,229,770 (GRCm39) |
A91V |
possibly damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,580,216 (GRCm39) |
V450I |
probably benign |
Het |
| Nup160 |
T |
G |
2: 90,530,800 (GRCm39) |
F486C |
probably damaging |
Het |
| Nup50l |
T |
C |
6: 96,141,953 (GRCm39) |
T364A |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,994,152 (GRCm39) |
Y1602N |
probably damaging |
Het |
| Or52ae9 |
T |
A |
7: 103,389,707 (GRCm39) |
T247S |
probably damaging |
Het |
| Or5ak4 |
C |
A |
2: 85,162,142 (GRCm39) |
M33I |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,689,164 (GRCm39) |
Y955* |
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Pianp |
T |
C |
6: 124,976,347 (GRCm39) |
V52A |
probably benign |
Het |
| Plekhh2 |
T |
C |
17: 84,899,013 (GRCm39) |
Y997H |
probably damaging |
Het |
| Plekhm1 |
G |
T |
11: 103,278,069 (GRCm39) |
S342R |
possibly damaging |
Het |
| Poglut2 |
C |
T |
1: 44,149,894 (GRCm39) |
|
probably null |
Het |
| Ppp4r4 |
T |
A |
12: 103,551,996 (GRCm39) |
V81E |
probably damaging |
Het |
| Pramel52-ps |
A |
G |
5: 94,529,268 (GRCm39) |
T13A |
probably benign |
Het |
| Ptafr |
A |
G |
4: 132,306,657 (GRCm39) |
T16A |
probably benign |
Het |
| Ptpn23 |
A |
T |
9: 110,218,855 (GRCm39) |
L445Q |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,374,717 (GRCm39) |
F751L |
possibly damaging |
Het |
| Sap18 |
A |
C |
14: 58,039,474 (GRCm39) |
D153A |
probably damaging |
Het |
| Slc38a11 |
C |
T |
2: 65,194,235 (GRCm39) |
G10D |
probably benign |
Het |
| Snx32 |
T |
C |
19: 5,560,372 (GRCm39) |
N10D |
probably benign |
Het |
| Sox6 |
T |
C |
7: 115,261,677 (GRCm39) |
T180A |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,301,192 (GRCm39) |
K78R |
probably damaging |
Het |
| Syce3 |
T |
C |
15: 89,281,567 (GRCm39) |
D24G |
probably damaging |
Het |
| Taok3 |
T |
A |
5: 117,344,732 (GRCm39) |
I153N |
probably damaging |
Het |
| Tesk1 |
A |
G |
4: 43,445,991 (GRCm39) |
Q308R |
probably benign |
Het |
| Tm7sf3 |
A |
T |
6: 146,511,471 (GRCm39) |
|
probably null |
Het |
| Tmbim6 |
T |
C |
15: 99,300,034 (GRCm39) |
V50A |
probably benign |
Het |
| Tmem107 |
T |
C |
11: 68,961,837 (GRCm39) |
V22A |
probably damaging |
Het |
| Ttc12 |
T |
C |
9: 49,364,646 (GRCm39) |
I377V |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,262,316 (GRCm39) |
N310I |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,175,416 (GRCm39) |
N1171K |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,574,831 (GRCm39) |
V1032E |
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 |
|
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'- TCATTGTCCCCAAGAGCCAG -3'
(R):5'- CTGAGTCAAAGTGGGAATTTTACC -3'
Sequencing Primer
(F):5'- TCCCCAAGAGCCAGTGGTG -3'
(R):5'- TGGGAATTTTACCAGCACAGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation