Incidental Mutation 'R9190:Adcy5'
| ID |
697707 |
| 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: 0.183)
|
| Stock # |
R9190 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
34975247-35126108 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 35089364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 520
(C520*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
| AlphaFold |
P84309 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000114913
AA Change: C520*
|
| SMART Domains |
Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: C520*
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (52/52) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
T |
7: 40,642,880 (GRCm39) |
T183I |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,241,886 (GRCm39) |
S1250T |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,336,446 (GRCm39) |
S1510R |
probably benign |
Het |
| Arhgap21 |
A |
T |
2: 20,858,983 (GRCm39) |
M1237K |
probably null |
Het |
| Atp8b4 |
T |
A |
2: 126,225,607 (GRCm39) |
N541I |
probably damaging |
Het |
| Bbs12 |
G |
T |
3: 37,375,223 (GRCm39) |
R557L |
probably damaging |
Het |
| Bcl7c |
T |
C |
7: 127,266,200 (GRCm39) |
T183A |
probably benign |
Het |
| Brd7 |
A |
G |
8: 89,081,274 (GRCm39) |
S192P |
probably damaging |
Het |
| Calhm3 |
G |
A |
19: 47,146,121 (GRCm39) |
A28V |
probably benign |
Het |
| Ccdc113 |
A |
G |
8: 96,263,101 (GRCm39) |
N37S |
probably damaging |
Het |
| Cdh5 |
T |
G |
8: 104,867,337 (GRCm39) |
V538G |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,726,293 (GRCm39) |
E1639G |
possibly damaging |
Het |
| Clca3a2 |
C |
T |
3: 144,796,599 (GRCm39) |
V203I |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,414,815 (GRCm39) |
F360L |
probably damaging |
Het |
| Cnst |
GTGACACGCTTG |
GTG |
1: 179,407,039 (GRCm39) |
|
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,260,058 (GRCm39) |
Y234H |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,244,495 (GRCm39) |
S44G |
probably benign |
Het |
| Dync2i2 |
G |
T |
2: 29,922,211 (GRCm39) |
H417N |
probably benign |
Het |
| Farp1 |
A |
G |
14: 121,492,988 (GRCm39) |
E530G |
probably damaging |
Het |
| Fhad1 |
C |
T |
4: 141,646,058 (GRCm39) |
|
probably null |
Het |
| Foxj3 |
T |
A |
4: 119,477,538 (GRCm39) |
C449* |
probably null |
Het |
| Fsbp |
G |
C |
4: 11,584,005 (GRCm39) |
V235L |
probably benign |
Het |
| Fuom |
T |
C |
7: 139,681,252 (GRCm39) |
E73G |
probably benign |
Het |
| Gm5134 |
A |
G |
10: 75,844,645 (GRCm39) |
H667R |
probably damaging |
Het |
| Igsf21 |
A |
G |
4: 139,756,028 (GRCm39) |
I361T |
probably damaging |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Kmt2d |
A |
T |
15: 98,749,896 (GRCm39) |
V2599E |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,111,514 (GRCm39) |
M2255K |
|
Het |
| Litafd |
C |
A |
16: 8,501,647 (GRCm39) |
P50T |
|
Het |
| Lrrc32 |
A |
G |
7: 98,148,234 (GRCm39) |
H338R |
probably benign |
Het |
| Map1b |
C |
A |
13: 99,571,914 (GRCm39) |
R269L |
probably damaging |
Het |
| Ms4a5 |
T |
A |
19: 11,256,733 (GRCm39) |
I55F |
probably damaging |
Het |
| Muc5b |
G |
C |
7: 141,411,939 (GRCm39) |
L1628F |
unknown |
Het |
| Myo6 |
A |
G |
9: 80,195,384 (GRCm39) |
Q918R |
unknown |
Het |
| Or1e25 |
T |
A |
11: 73,493,877 (GRCm39) |
M157K |
probably benign |
Het |
| Or2t48 |
A |
G |
11: 58,420,161 (GRCm39) |
V217A |
possibly damaging |
Het |
| Or5m11b |
T |
A |
2: 85,805,884 (GRCm39) |
I99N |
possibly damaging |
Het |
| Or9i1b |
T |
G |
19: 13,896,967 (GRCm39) |
N194K |
probably benign |
Het |
| Pals2 |
A |
G |
6: 50,157,219 (GRCm39) |
R296G |
probably damaging |
Het |
| Plin5 |
A |
G |
17: 56,419,462 (GRCm39) |
V320A |
probably damaging |
Het |
| Ptx4 |
A |
T |
17: 25,342,257 (GRCm39) |
Q244L |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,858,495 (GRCm39) |
T535A |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,313,117 (GRCm39) |
F1279S |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,428,362 (GRCm39) |
H254R |
probably damaging |
Het |
| Rida |
C |
T |
15: 34,487,909 (GRCm39) |
A69T |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,511,346 (GRCm39) |
F131L |
probably benign |
Het |
| Septin1 |
T |
C |
7: 126,816,092 (GRCm39) |
I141V |
probably benign |
Het |
| Slc10a6 |
A |
G |
5: 103,765,571 (GRCm39) |
S171P |
probably damaging |
Het |
| Slc18a1 |
A |
G |
8: 69,519,790 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
T |
C |
12: 73,388,526 (GRCm39) |
S247P |
possibly damaging |
Het |
| Tet2 |
A |
T |
3: 133,187,147 (GRCm39) |
I1094K |
possibly damaging |
Het |
| Tmem234 |
C |
T |
4: 129,501,333 (GRCm39) |
S138L |
probably benign |
Het |
| Trpv1 |
T |
A |
11: 73,145,148 (GRCm39) |
|
probably null |
Het |
| Vmn2r60 |
T |
A |
7: 41,844,935 (GRCm39) |
M766K |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,226,843 (GRCm39) |
N332D |
probably benign |
Het |
| Zfp292 |
A |
T |
4: 34,819,563 (GRCm39) |
I258N |
probably damaging |
Het |
| Zxdc |
A |
G |
6: 90,375,773 (GRCm39) |
K750E |
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 |
|
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'- AGGCTGACTGTGACCAATCC -3'
(R):5'- GTGAGGTACAGAACTAGCCG -3'
Sequencing Primer
(F):5'- GACTGTGACCAATCCCTGCC -3'
(R):5'- GTACAGAACTAGCCGGCAGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation