Incidental Mutation 'R0398:Adcy5'
| ID |
32157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy5
|
| Ensembl Gene |
ENSMUSG00000022840 |
| Gene Name |
adenylate cyclase 5 |
| Synonyms |
AC5 |
| MMRRC Submission |
038603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R0398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
34975247-35126108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35089438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 545
(M545K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
| AlphaFold |
P84309 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114913
AA Change: M545K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: M545K
| 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: ENSMUST00000232470
|
| Meta Mutation Damage Score |
0.9745 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.8%
- 20x: 83.2%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,117,010 (GRCm39) |
Q546R |
probably null |
Het |
| Acr |
T |
G |
15: 89,458,144 (GRCm39) |
V275G |
probably damaging |
Het |
| Adam5 |
A |
G |
8: 25,303,448 (GRCm39) |
Y160H |
probably benign |
Het |
| Aoc2 |
A |
G |
11: 101,216,379 (GRCm39) |
E154G |
possibly damaging |
Het |
| Atg2a |
T |
G |
19: 6,296,608 (GRCm39) |
L338R |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,049,590 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,644,866 (GRCm39) |
S436P |
probably benign |
Het |
| Bpnt1 |
T |
C |
1: 185,070,355 (GRCm39) |
Y16H |
probably benign |
Het |
| Cbll1 |
A |
T |
12: 31,542,091 (GRCm39) |
F90Y |
probably damaging |
Het |
| Cbs |
G |
T |
17: 31,836,216 (GRCm39) |
Q411K |
probably benign |
Het |
| Cdca2 |
A |
C |
14: 67,935,411 (GRCm39) |
F435V |
probably damaging |
Het |
| Cdh13 |
T |
G |
8: 120,040,786 (GRCm39) |
S664A |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,073,702 (GRCm39) |
V438E |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,266,032 (GRCm39) |
D40G |
possibly damaging |
Het |
| Col6a1 |
T |
C |
10: 76,545,952 (GRCm39) |
H840R |
unknown |
Het |
| Cpa1 |
A |
G |
6: 30,645,250 (GRCm39) |
T409A |
probably benign |
Het |
| Crlf1 |
G |
A |
8: 70,951,739 (GRCm39) |
|
probably benign |
Het |
| E2f2 |
T |
A |
4: 135,907,855 (GRCm39) |
I184N |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,045,886 (GRCm39) |
D596G |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,495,367 (GRCm39) |
R724G |
probably benign |
Het |
| Ets2 |
A |
G |
16: 95,517,267 (GRCm39) |
Y333C |
probably damaging |
Het |
| Fam178b |
A |
G |
1: 36,671,487 (GRCm39) |
|
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,515,928 (GRCm39) |
V626A |
probably benign |
Het |
| Gart |
G |
T |
16: 91,436,337 (GRCm39) |
A140E |
probably damaging |
Het |
| Gbp7 |
T |
C |
3: 142,251,274 (GRCm39) |
S477P |
possibly damaging |
Het |
| Gm16380 |
T |
C |
9: 53,791,453 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
C |
A |
1: 150,674,565 (GRCm39) |
R579M |
possibly damaging |
Het |
| Hoxb8 |
A |
C |
11: 96,173,937 (GRCm39) |
H50P |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,163,706 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
G |
A |
3: 40,711,429 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
T |
6: 24,756,670 (GRCm39) |
Y296F |
probably damaging |
Het |
| Igsf8 |
C |
A |
1: 172,145,066 (GRCm39) |
T131K |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,415,373 (GRCm39) |
P298L |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,259,788 (GRCm39) |
I229N |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,288,688 (GRCm39) |
D1205G |
possibly damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,363,910 (GRCm39) |
R74G |
probably benign |
Het |
| Lvrn |
A |
G |
18: 47,013,760 (GRCm39) |
T481A |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,244,810 (GRCm39) |
T7312S |
probably damaging |
Het |
| Magel2 |
C |
T |
7: 62,030,299 (GRCm39) |
Q1068* |
probably null |
Het |
| Mrpl3 |
A |
G |
9: 104,941,302 (GRCm39) |
Y203C |
probably damaging |
Het |
| Nek2 |
T |
A |
1: 191,559,473 (GRCm39) |
I326N |
probably benign |
Het |
| Nlrc4 |
A |
C |
17: 74,752,915 (GRCm39) |
N489K |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,732 (GRCm39) |
S304R |
possibly damaging |
Het |
| Ogfr |
C |
G |
2: 180,235,492 (GRCm39) |
R189G |
probably damaging |
Het |
| Or52b4i |
T |
A |
7: 102,191,899 (GRCm39) |
L252H |
probably damaging |
Het |
| Or5p78 |
T |
A |
7: 108,212,162 (GRCm39) |
I216N |
probably benign |
Het |
| Or5w8 |
A |
T |
2: 87,688,401 (GRCm39) |
N294I |
probably damaging |
Het |
| Orm3 |
A |
G |
4: 63,275,885 (GRCm39) |
S145G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,731,716 (GRCm39) |
E3406G |
unknown |
Het |
| Pcx |
T |
G |
19: 4,651,638 (GRCm39) |
F4C |
probably benign |
Het |
| Pgd |
C |
A |
4: 149,238,339 (GRCm39) |
G364V |
probably damaging |
Het |
| Pla2g12a |
C |
A |
3: 129,684,045 (GRCm39) |
D102E |
probably benign |
Het |
| Pnpo |
A |
T |
11: 96,833,253 (GRCm39) |
C82* |
probably null |
Het |
| Prdm1 |
T |
C |
10: 44,315,805 (GRCm39) |
N792S |
probably damaging |
Het |
| Prim2 |
A |
T |
1: 33,523,757 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
C |
A |
11: 78,096,094 (GRCm39) |
P242Q |
probably benign |
Het |
| Psmc5 |
A |
G |
11: 106,152,370 (GRCm39) |
N129S |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,688,150 (GRCm39) |
T231A |
possibly damaging |
Het |
| Qrfpr |
C |
T |
3: 36,235,201 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
G |
A |
17: 29,364,344 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,526,508 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,861,385 (GRCm39) |
E25G |
probably damaging |
Het |
| Rpl8 |
G |
C |
15: 76,789,246 (GRCm39) |
|
probably benign |
Het |
| Samd12 |
G |
A |
15: 53,583,116 (GRCm39) |
P73S |
possibly damaging |
Het |
| Samd9l |
T |
A |
6: 3,374,502 (GRCm39) |
N920Y |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,948,476 (GRCm39) |
V607A |
probably benign |
Het |
| Slc25a19 |
A |
G |
11: 115,508,401 (GRCm39) |
Y196H |
probably damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,869,621 (GRCm39) |
M12K |
possibly damaging |
Het |
| Slc5a4a |
T |
C |
10: 76,018,556 (GRCm39) |
I501T |
possibly damaging |
Het |
| Sp4 |
A |
T |
12: 118,262,408 (GRCm39) |
V546D |
possibly damaging |
Het |
| Ssh3 |
C |
T |
19: 4,313,727 (GRCm39) |
V511M |
possibly damaging |
Het |
| Stard9 |
T |
G |
2: 120,526,788 (GRCm39) |
V1015G |
probably benign |
Het |
| Thoc5 |
G |
T |
11: 4,871,978 (GRCm39) |
V516F |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,783,628 (GRCm39) |
I570N |
probably damaging |
Het |
| Ttc4 |
T |
C |
4: 106,524,770 (GRCm39) |
|
probably null |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Yipf3 |
A |
G |
17: 46,562,411 (GRCm39) |
E298G |
possibly damaging |
Het |
| Zbtb34 |
C |
A |
2: 33,301,060 (GRCm39) |
E494* |
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,677,878 (GRCm39) |
Y2976C |
probably 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 |
|
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'- ACTTCTCTGGCAGGCAGCTTACTC -3'
(R):5'- TGCTCACAAGGATACATCATCGGC -3'
Sequencing Primer
(F):5'- CTCCAAGGATGAGTGACTCTCTG -3'
(R):5'- TATAGGACAGCCCATTGGCTC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation