Incidental Mutation 'R9256:Adcy5'
| ID |
701901 |
| 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 # |
R9256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
34975247-35126108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35124052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1244
(V1244I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
| AlphaFold |
P84309 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114913
AA Change: V1244I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: V1244I
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (70/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
A |
G |
8: 46,945,930 (GRCm39) |
Y21C |
probably damaging |
Het |
| Adamts7 |
A |
T |
9: 90,060,218 (GRCm39) |
I290F |
probably damaging |
Het |
| Adnp |
A |
T |
2: 168,025,945 (GRCm39) |
I450N |
probably damaging |
Het |
| AL732309.1 |
A |
T |
2: 25,136,211 (GRCm39) |
M1K |
probably null |
Het |
| Alox15 |
C |
T |
11: 70,236,370 (GRCm39) |
G510D |
possibly damaging |
Het |
| Arhgef16 |
C |
A |
4: 154,363,502 (GRCm39) |
E685* |
probably null |
Het |
| Atp13a2 |
A |
G |
4: 140,730,038 (GRCm39) |
E643G |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,423,061 (GRCm39) |
Q171K |
probably damaging |
Het |
| Bdkrb2 |
A |
G |
12: 105,558,352 (GRCm39) |
T198A |
probably benign |
Het |
| C7 |
T |
C |
15: 5,023,645 (GRCm39) |
E721G |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,797,848 (GRCm39) |
Y823H |
unknown |
Het |
| Cd74 |
T |
C |
18: 60,944,366 (GRCm39) |
V192A |
probably benign |
Het |
| Cdc42bpg |
G |
A |
19: 6,361,067 (GRCm39) |
A231T |
probably damaging |
Het |
| Cers6 |
G |
A |
2: 68,777,706 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,788,637 (GRCm39) |
I555M |
probably benign |
Het |
| Cracd |
T |
G |
5: 76,988,757 (GRCm39) |
V36G |
unknown |
Het |
| Crnkl1 |
A |
G |
2: 145,770,216 (GRCm39) |
V209A |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,971,272 (GRCm39) |
T98A |
|
Het |
| Enpp5 |
T |
C |
17: 44,396,414 (GRCm39) |
I442T |
probably benign |
Het |
| Fbxw19 |
T |
C |
9: 109,310,641 (GRCm39) |
Y427C |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,744,653 (GRCm39) |
V311A |
probably benign |
Het |
| Fyb1 |
T |
G |
15: 6,674,358 (GRCm39) |
S665A |
possibly damaging |
Het |
| Igkv6-20 |
T |
C |
6: 70,313,417 (GRCm39) |
Y16C |
probably benign |
Het |
| Ints10 |
A |
G |
8: 69,261,129 (GRCm39) |
R370G |
possibly damaging |
Het |
| Iqub |
A |
T |
6: 24,446,198 (GRCm39) |
I742N |
possibly damaging |
Het |
| Kcnn3 |
T |
C |
3: 89,574,407 (GRCm39) |
Y640H |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,341,303 (GRCm39) |
V959A |
probably benign |
Het |
| Marcksl1 |
A |
G |
4: 129,408,816 (GRCm39) |
S132G |
probably benign |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,824,010 (GRCm39) |
K83N |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,760,862 (GRCm39) |
E384G |
possibly damaging |
Het |
| Morn5 |
G |
T |
2: 35,939,553 (GRCm39) |
G5W |
probably damaging |
Het |
| Mrpl46 |
A |
G |
7: 78,432,671 (GRCm39) |
S36P |
probably benign |
Het |
| Mtif2 |
T |
C |
11: 29,490,777 (GRCm39) |
F494L |
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,274,534 (GRCm39) |
N336S |
probably benign |
Het |
| Nepro |
A |
G |
16: 44,544,790 (GRCm39) |
N22S |
probably benign |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Or10x4 |
C |
T |
1: 174,219,109 (GRCm39) |
T158I |
probably benign |
Het |
| Or1e1f |
A |
T |
11: 73,856,135 (GRCm39) |
I234F |
probably benign |
Het |
| Or2d36 |
T |
C |
7: 106,747,387 (GRCm39) |
I288T |
probably damaging |
Het |
| Or8c16 |
T |
A |
9: 38,130,498 (GRCm39) |
Y123* |
probably null |
Het |
| Or9r7 |
A |
G |
10: 129,962,335 (GRCm39) |
V197A |
possibly damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,020,047 (GRCm39) |
N724Y |
|
Het |
| Pde8b |
G |
A |
13: 95,164,204 (GRCm39) |
R669C |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,397,290 (GRCm39) |
|
probably null |
Het |
| Pls1 |
A |
G |
9: 95,655,696 (GRCm39) |
V352A |
probably damaging |
Het |
| Prb1b |
T |
C |
6: 132,288,972 (GRCm39) |
N284S |
unknown |
Het |
| Prtg |
A |
T |
9: 72,758,977 (GRCm39) |
I444F |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,219,776 (GRCm39) |
H1998L |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,356,450 (GRCm39) |
V133D |
probably benign |
Het |
| Rab35 |
C |
A |
5: 115,778,246 (GRCm39) |
R71S |
probably damaging |
Het |
| Scgb2b12 |
A |
G |
7: 32,026,054 (GRCm39) |
L46P |
probably damaging |
Het |
| Sdha |
A |
T |
13: 74,475,483 (GRCm39) |
|
probably benign |
Het |
| Sdr39u1 |
C |
A |
14: 56,135,209 (GRCm39) |
V245F |
probably benign |
Het |
| Sgo2a |
T |
A |
1: 58,058,772 (GRCm39) |
V1117E |
possibly damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,074,867 (GRCm39) |
S1154P |
probably damaging |
Het |
| Slc6a1 |
A |
T |
6: 114,287,554 (GRCm39) |
Q441L |
possibly damaging |
Het |
| Smtnl2 |
A |
T |
11: 72,293,835 (GRCm39) |
|
probably null |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmem38b |
A |
T |
4: 53,848,924 (GRCm39) |
I110F |
probably damaging |
Het |
| Ubqln1 |
A |
G |
13: 58,325,721 (GRCm39) |
I573T |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,356,235 (GRCm39) |
I1155M |
possibly damaging |
Het |
| Vipr1 |
A |
G |
9: 121,490,118 (GRCm39) |
I164V |
probably benign |
Het |
| Vps13b |
T |
G |
15: 35,623,925 (GRCm39) |
S1281A |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,882,374 (GRCm39) |
L1073P |
|
Het |
| Wipi1 |
C |
T |
11: 109,473,952 (GRCm39) |
|
probably null |
Het |
| Zdhhc8 |
G |
A |
16: 18,042,686 (GRCm39) |
P505S |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,839,899 (GRCm39) |
V84I |
probably benign |
Het |
| Zfp712 |
T |
C |
13: 67,188,791 (GRCm39) |
T579A |
probably benign |
Het |
| Zfp788 |
G |
A |
7: 41,299,638 (GRCm39) |
R758Q |
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 |
|
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 |
|
|
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'- ATTGTCCCCAAGAGCCAGTG -3'
(R):5'- AAGTTGCTTCTGAGTCAAAGTGG -3'
Sequencing Primer
(F):5'- CTCTCATGTCAGGGCAGCAAC -3'
(R):5'- TGGGAATTTTACCAGCACAGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation