Incidental Mutation 'R9776:Adcy5'
| ID |
733741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy5
|
| Ensembl Gene |
ENSMUSG00000022840 |
| Gene Name |
adenylate cyclase 5 |
| Synonyms |
AC5 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R9776 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
34975247-35126108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35100725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 759
(D759G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
| AlphaFold |
P84309 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114913
AA Change: D759G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: D759G
| 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: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
G |
5: 113,861,765 (GRCm39) |
Q35P |
unknown |
Het |
| 2010109A12Rik |
T |
A |
5: 93,361,305 (GRCm39) |
*120K |
probably null |
Het |
| 2700049A03Rik |
A |
G |
12: 71,235,448 (GRCm39) |
T1133A |
possibly damaging |
Het |
| A830005F24Rik |
G |
A |
13: 48,667,758 (GRCm39) |
R20Q |
unknown |
Het |
| Acta2 |
T |
C |
19: 34,223,481 (GRCm39) |
T205A |
probably benign |
Het |
| Ankk1 |
T |
A |
9: 49,330,714 (GRCm39) |
M276L |
probably benign |
Het |
| Arfgef2 |
G |
A |
2: 166,713,447 (GRCm39) |
E1283K |
probably damaging |
Het |
| Arhgef26 |
G |
T |
3: 62,246,803 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
A |
C |
13: 98,133,415 (GRCm39) |
S351A |
probably benign |
Het |
| Arih2 |
C |
T |
9: 108,484,504 (GRCm39) |
G436S |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,969,396 (GRCm39) |
T1013A |
probably damaging |
Het |
| Camsap1 |
A |
T |
2: 25,828,166 (GRCm39) |
V1186E |
probably benign |
Het |
| Capn10 |
G |
T |
1: 92,871,586 (GRCm39) |
A395S |
possibly damaging |
Het |
| Ccdc184 |
A |
T |
15: 98,066,737 (GRCm39) |
T181S |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,509,108 (GRCm39) |
I1345T |
possibly damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,486,779 (GRCm39) |
H252Q |
probably damaging |
Het |
| Ctnna2 |
T |
A |
6: 77,582,172 (GRCm39) |
M363L |
probably benign |
Het |
| Cyp24a1 |
G |
A |
2: 170,338,625 (GRCm39) |
P24S |
probably benign |
Het |
| D130040H23Rik |
A |
G |
8: 69,755,566 (GRCm39) |
H341R |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,298,226 (GRCm39) |
E590G |
probably damaging |
Het |
| Ear2 |
A |
T |
14: 44,340,729 (GRCm39) |
Y129F |
probably benign |
Het |
| Egf |
A |
G |
3: 129,530,514 (GRCm39) |
L216P |
probably damaging |
Het |
| Fbxw9 |
T |
A |
8: 85,792,523 (GRCm39) |
H319Q |
probably damaging |
Het |
| Gipr |
A |
G |
7: 18,891,487 (GRCm39) |
S397P |
probably damaging |
Het |
| Gxylt2 |
G |
T |
6: 100,682,072 (GRCm39) |
E90* |
probably null |
Het |
| Hnf1b |
T |
C |
11: 83,784,283 (GRCm39) |
V473A |
probably benign |
Het |
| Iffo1 |
G |
A |
6: 125,130,436 (GRCm39) |
E475K |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,308,075 (GRCm39) |
R640S |
|
Het |
| Ipmk |
A |
G |
10: 71,217,439 (GRCm39) |
S328G |
probably damaging |
Het |
| Kcnq1 |
A |
T |
7: 142,737,368 (GRCm39) |
I229F |
probably damaging |
Het |
| Kif9 |
C |
A |
9: 110,350,398 (GRCm39) |
T763N |
probably benign |
Het |
| Klhl36 |
C |
T |
8: 120,601,129 (GRCm39) |
Q383* |
probably null |
Het |
| Lrp4 |
G |
T |
2: 91,316,179 (GRCm39) |
V766F |
probably damaging |
Het |
| Mettl26 |
T |
A |
17: 26,094,511 (GRCm39) |
M3K |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,570,675 (GRCm39) |
I615F |
unknown |
Het |
| Myo7b |
T |
A |
18: 32,133,068 (GRCm39) |
Q427L |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
| Ncapg |
G |
A |
5: 45,829,834 (GRCm39) |
V179I |
probably damaging |
Het |
| Nme4 |
C |
T |
17: 26,314,410 (GRCm39) |
G6E |
possibly damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,319,311 (GRCm39) |
Y185C |
probably damaging |
Het |
| Nt5c3b |
T |
C |
11: 100,327,012 (GRCm39) |
I95V |
probably benign |
Het |
| Ntaq1 |
A |
G |
15: 58,004,913 (GRCm39) |
T9A |
probably benign |
Het |
| Or2y3 |
C |
T |
17: 38,393,470 (GRCm39) |
R133H |
probably benign |
Het |
| Or5g9 |
A |
T |
2: 85,552,145 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or5t16 |
A |
T |
2: 86,819,055 (GRCm39) |
I155N |
probably damaging |
Het |
| Pappa2 |
G |
T |
1: 158,611,481 (GRCm39) |
P1494Q |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,457,909 (GRCm39) |
F144S |
probably benign |
Het |
| Phactr3 |
A |
G |
2: 177,975,896 (GRCm39) |
H547R |
probably damaging |
Het |
| Pik3c2b |
T |
A |
1: 133,018,588 (GRCm39) |
S1012T |
possibly damaging |
Het |
| Plppr2 |
G |
A |
9: 21,859,107 (GRCm39) |
G408D |
probably damaging |
Het |
| Pom121 |
T |
A |
5: 135,420,554 (GRCm39) |
N289I |
unknown |
Het |
| Ppa1 |
T |
A |
10: 61,487,362 (GRCm39) |
S30T |
probably damaging |
Het |
| Rgs5 |
A |
T |
1: 169,518,089 (GRCm39) |
K108* |
probably null |
Het |
| Rpap1 |
A |
G |
2: 119,607,278 (GRCm39) |
V287A |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,774,664 (GRCm39) |
Y2326H |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,707,599 (GRCm39) |
S2813P |
probably damaging |
Het |
| Sap25 |
T |
C |
5: 137,640,702 (GRCm39) |
|
probably null |
Het |
| Senp5 |
T |
C |
16: 31,782,279 (GRCm39) |
Y739C |
probably damaging |
Het |
| Slc25a29 |
A |
T |
12: 108,793,017 (GRCm39) |
L187Q |
possibly damaging |
Het |
| Slc7a2 |
C |
T |
8: 41,358,641 (GRCm39) |
T328M |
probably damaging |
Het |
| Slc7a8 |
T |
C |
14: 55,018,759 (GRCm39) |
N9S |
probably benign |
Het |
| Snx18 |
A |
G |
13: 113,754,039 (GRCm39) |
V298A |
probably benign |
Het |
| Spo11 |
T |
A |
2: 172,833,904 (GRCm39) |
I342N |
possibly damaging |
Het |
| Ssc5d |
A |
G |
7: 4,932,367 (GRCm39) |
K344E |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,439,269 (GRCm39) |
D1639V |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,617,001 (GRCm39) |
D285G |
probably benign |
Het |
| Sult1b1 |
T |
C |
5: 87,662,815 (GRCm39) |
D295G |
probably benign |
Het |
| Syt5 |
A |
G |
7: 4,544,831 (GRCm39) |
L274P |
probably damaging |
Het |
| Tas1r2 |
T |
C |
4: 139,396,208 (GRCm39) |
S545P |
possibly damaging |
Het |
| Tbc1d17 |
T |
G |
7: 44,490,696 (GRCm39) |
D632A |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,650,007 (GRCm39) |
S10P |
probably benign |
Het |
| Tlk1 |
A |
T |
2: 70,555,908 (GRCm39) |
I417N |
probably damaging |
Het |
| Tmem184a |
C |
T |
5: 139,791,984 (GRCm39) |
R348H |
possibly damaging |
Het |
| Togaram2 |
T |
A |
17: 72,023,508 (GRCm39) |
V808D |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,324,939 (GRCm39) |
Q2397R |
probably benign |
Het |
| Trav7-4 |
A |
G |
14: 53,698,994 (GRCm39) |
D47G |
possibly damaging |
Het |
| Usp17le |
T |
A |
7: 104,419,814 (GRCm39) |
M35L |
probably benign |
Het |
| Vegfc |
C |
T |
8: 54,633,829 (GRCm39) |
S262L |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,605,212 (GRCm39) |
I479L |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,736,958 (GRCm39) |
F126L |
probably benign |
Het |
| Zfp945 |
C |
A |
17: 23,070,582 (GRCm39) |
C460F |
possibly damaging |
Het |
| Zmym4 |
G |
T |
4: 126,804,942 (GRCm39) |
S439R |
possibly damaging |
Het |
| Zscan4-ps3 |
A |
G |
7: 11,344,093 (GRCm39) |
E17G |
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 |
|
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 |
|
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'- ATAGGGGCATTTACACTGGC -3'
(R):5'- ATTGCCCAGTGAGGTCTTC -3'
Sequencing Primer
(F):5'- ACTGGCTGCCCTCTGTGTAAG -3'
(R):5'- GGACCCCTGATTGTCTAAGAAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation