Incidental Mutation 'R7242:Adcy5'
| ID |
563312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy5
|
| Ensembl Gene |
ENSMUSG00000022840 |
| Gene Name |
adenylate cyclase 5 |
| Synonyms |
AC5 |
| MMRRC Submission |
045349-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R7242 (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 34977205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 246
(L246P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
| AlphaFold |
P84309 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114913
AA Change: L246P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: L246P
| 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 |
0.9155 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (73/73) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
| Abca6 |
A |
T |
11: 110,132,479 (GRCm39) |
V272D |
possibly damaging |
Het |
| Acot11 |
A |
T |
4: 106,619,690 (GRCm39) |
S163R |
probably benign |
Het |
| Adgra1 |
A |
T |
7: 139,427,573 (GRCm39) |
|
probably null |
Het |
| Adgra2 |
A |
G |
8: 27,612,055 (GRCm39) |
T1335A |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,908,062 (GRCm39) |
Y354F |
probably damaging |
Het |
| Armt1 |
T |
C |
10: 4,403,475 (GRCm39) |
S187P |
probably damaging |
Het |
| Azin1 |
T |
C |
15: 38,501,749 (GRCm39) |
M1V |
probably null |
Het |
| B430305J03Rik |
C |
T |
3: 61,271,256 (GRCm39) |
C163Y |
unknown |
Het |
| Cables1 |
T |
C |
18: 11,973,064 (GRCm39) |
S68P |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,663 (GRCm39) |
F341L |
probably benign |
Het |
| Ccdc90b |
T |
A |
7: 92,221,776 (GRCm39) |
H118Q |
probably damaging |
Het |
| Ccn5 |
T |
C |
2: 163,670,772 (GRCm39) |
F93S |
probably benign |
Het |
| Celf1 |
T |
A |
2: 90,833,602 (GRCm39) |
C119* |
probably null |
Het |
| Cfap57 |
C |
T |
4: 118,450,293 (GRCm39) |
V610M |
possibly damaging |
Het |
| Chrm4 |
T |
A |
2: 91,757,595 (GRCm39) |
M1K |
probably null |
Het |
| Chrnd |
C |
T |
1: 87,125,201 (GRCm39) |
T418I |
probably damaging |
Het |
| Coch |
G |
T |
12: 51,640,344 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,112,118 (GRCm39) |
T345A |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,161,842 (GRCm39) |
T96A |
probably benign |
Het |
| Corin |
T |
C |
5: 72,462,398 (GRCm39) |
I945V |
probably benign |
Het |
| Cyp2c67 |
G |
T |
19: 39,605,783 (GRCm39) |
T371N |
probably benign |
Het |
| Dap |
T |
A |
15: 31,273,454 (GRCm39) |
*103R |
probably null |
Het |
| Defb35 |
T |
A |
8: 22,430,773 (GRCm39) |
V49E |
unknown |
Het |
| Dmtf1 |
T |
A |
5: 9,199,016 (GRCm39) |
D39V |
possibly damaging |
Het |
| Dmtn |
T |
C |
14: 70,855,460 (GRCm39) |
T10A |
probably damaging |
Het |
| Dnajc1 |
C |
T |
2: 18,298,783 (GRCm39) |
E264K |
probably benign |
Het |
| Dtx3l |
A |
T |
16: 35,753,771 (GRCm39) |
N278K |
possibly damaging |
Het |
| Fam161a |
T |
A |
11: 22,970,037 (GRCm39) |
S72T |
possibly damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,576,140 (GRCm39) |
S114T |
unknown |
Het |
| Focad |
T |
G |
4: 88,228,143 (GRCm39) |
I784S |
unknown |
Het |
| Fzd8 |
A |
T |
18: 9,214,171 (GRCm39) |
T418S |
probably damaging |
Het |
| Gclc |
A |
G |
9: 77,692,653 (GRCm39) |
Y264C |
probably benign |
Het |
| Ggn |
G |
A |
7: 28,872,459 (GRCm39) |
C649Y |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,089,092 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,526 (GRCm39) |
Y155C |
probably damaging |
Het |
| Htatip2 |
A |
G |
7: 49,422,354 (GRCm39) |
K191E |
probably benign |
Het |
| Ik |
A |
T |
18: 36,881,275 (GRCm39) |
S79C |
probably null |
Het |
| Kin |
G |
A |
2: 10,096,604 (GRCm39) |
R151Q |
probably benign |
Het |
| Kpna2rt |
G |
A |
17: 90,217,563 (GRCm39) |
T61I |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,874,986 (GRCm39) |
S1461P |
probably damaging |
Het |
| Melk |
T |
A |
4: 44,360,885 (GRCm39) |
V555E |
probably damaging |
Het |
| Met |
G |
A |
6: 17,491,316 (GRCm39) |
C26Y |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,748,633 (GRCm39) |
F77L |
probably damaging |
Het |
| Mib1 |
T |
A |
18: 10,741,011 (GRCm39) |
D86E |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Or12e8 |
G |
A |
2: 87,188,426 (GRCm39) |
V213I |
probably benign |
Het |
| Or56b1b |
T |
G |
7: 108,164,919 (GRCm39) |
S28R |
probably benign |
Het |
| Or7a36 |
A |
T |
10: 78,820,331 (GRCm39) |
K236* |
probably null |
Het |
| Or8g21 |
A |
G |
9: 38,906,437 (GRCm39) |
I98T |
probably benign |
Het |
| Patj |
A |
T |
4: 98,480,170 (GRCm39) |
I1296L |
probably benign |
Het |
| Pcdh1 |
C |
T |
18: 38,336,270 (GRCm39) |
V122M |
probably benign |
Het |
| Pcdhac2 |
A |
T |
18: 37,277,946 (GRCm39) |
I309F |
possibly damaging |
Het |
| Phf8-ps |
A |
G |
17: 33,286,101 (GRCm39) |
Y234H |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,906,012 (GRCm39) |
S565G |
probably damaging |
Het |
| Plekha2 |
A |
C |
8: 25,578,411 (GRCm39) |
F30V |
probably damaging |
Het |
| Ptbp1 |
A |
G |
10: 79,692,222 (GRCm39) |
M20V |
unknown |
Het |
| Pth2r |
A |
G |
1: 65,427,779 (GRCm39) |
D484G |
probably benign |
Het |
| Rapgef2 |
G |
A |
3: 78,995,210 (GRCm39) |
Q665* |
probably null |
Het |
| Scamp1 |
G |
A |
13: 94,369,648 (GRCm39) |
T59I |
probably benign |
Het |
| Sema4a |
T |
A |
3: 88,357,416 (GRCm39) |
D230V |
probably damaging |
Het |
| Snw1 |
C |
T |
12: 87,515,415 (GRCm39) |
G45R |
possibly damaging |
Het |
| Sox30 |
T |
A |
11: 45,875,347 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
A |
6: 48,450,886 (GRCm39) |
I2665K |
probably benign |
Het |
| Stx5a |
T |
A |
19: 8,732,641 (GRCm39) |
W437R |
unknown |
Het |
| Tln1 |
A |
G |
4: 43,542,602 (GRCm39) |
V1402A |
probably benign |
Het |
| Tpm1 |
A |
G |
9: 66,935,383 (GRCm39) |
L244P |
probably benign |
Het |
| Try5 |
T |
A |
6: 41,290,388 (GRCm39) |
E32V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,552,073 (GRCm39) |
N31188S |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,582,379 (GRCm39) |
|
probably null |
Het |
| Usp13 |
T |
G |
3: 32,919,892 (GRCm39) |
|
probably null |
Het |
| Vax2 |
A |
G |
6: 83,688,298 (GRCm39) |
E7G |
possibly damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,612 (GRCm39) |
Y139* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,631,155 (GRCm39) |
D21G |
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 |
|
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'- GCTTCAGCTTCCGCTCTAAG -3'
(R):5'- GATGAAGAACACGGTCCACC -3'
Sequencing Primer
(F):5'- ACTGGCATCGTCGAGGATG -3'
(R):5'- TGAAGAACACGGTCCACCAGATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation