Incidental Mutation 'R6431:Adcy5'
| ID |
518564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy5
|
| Ensembl Gene |
ENSMUSG00000022840 |
| Gene Name |
adenylate cyclase 5 |
| Synonyms |
AC5 |
| MMRRC Submission |
044569-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R6431 (G1)
|
| Quality Score |
170.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
34975247-35126108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35099607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 719
(E719G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
| AlphaFold |
P84309 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114913
AA Change: E719G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: E719G
| 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 |
0.3971 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 93.9%
|
| Validation Efficiency |
100% (68/68) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
A |
G |
9: 65,424,220 (GRCm39) |
M31T |
possibly damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,070,154 (GRCm39) |
K911E |
possibly damaging |
Het |
| Bpifb3 |
G |
T |
2: 153,766,728 (GRCm39) |
L210F |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,728,334 (GRCm39) |
Y211C |
probably damaging |
Het |
| Carm1 |
C |
A |
9: 21,494,373 (GRCm39) |
P297T |
probably damaging |
Het |
| Cdh19 |
A |
T |
1: 110,852,787 (GRCm39) |
Y383N |
probably benign |
Het |
| Cfap221 |
T |
C |
1: 119,860,583 (GRCm39) |
H681R |
probably damaging |
Het |
| Cmya5 |
A |
C |
13: 93,210,972 (GRCm39) |
S3274A |
possibly damaging |
Het |
| Cndp2 |
T |
A |
18: 84,693,203 (GRCm39) |
K186* |
probably null |
Het |
| Ctdp1 |
G |
T |
18: 80,494,470 (GRCm39) |
F310L |
probably damaging |
Het |
| Cyp2c55 |
A |
T |
19: 39,019,853 (GRCm39) |
I264F |
probably damaging |
Het |
| Dhx40 |
A |
T |
11: 86,664,649 (GRCm39) |
F628I |
probably damaging |
Het |
| Disc1 |
T |
A |
8: 125,862,128 (GRCm39) |
M500K |
possibly damaging |
Het |
| Dnah5 |
A |
C |
15: 28,349,970 (GRCm39) |
D2551A |
possibly damaging |
Het |
| Esyt1 |
A |
G |
10: 128,352,543 (GRCm39) |
|
probably null |
Het |
| Fam78a |
T |
C |
2: 31,972,843 (GRCm39) |
S26G |
probably damaging |
Het |
| Fn1 |
G |
A |
1: 71,687,003 (GRCm39) |
|
probably null |
Het |
| Gbx1 |
T |
C |
5: 24,709,916 (GRCm39) |
T310A |
probably benign |
Het |
| Ggh |
T |
A |
4: 20,042,219 (GRCm39) |
C16S |
unknown |
Het |
| Gm11595 |
T |
A |
11: 99,663,600 (GRCm39) |
T27S |
unknown |
Het |
| Gm17334 |
T |
A |
11: 53,663,564 (GRCm39) |
|
probably benign |
Het |
| Gsk3b |
A |
G |
16: 38,014,311 (GRCm39) |
I256M |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,620,711 (GRCm39) |
S1166R |
probably benign |
Het |
| Hyou1 |
T |
C |
9: 44,293,322 (GRCm39) |
|
probably null |
Het |
| Jup |
G |
T |
11: 100,265,167 (GRCm39) |
R637S |
probably benign |
Het |
| Lama2 |
T |
A |
10: 26,929,027 (GRCm39) |
I2087F |
possibly damaging |
Het |
| Lamc1 |
T |
G |
1: 153,097,417 (GRCm39) |
K1542N |
probably benign |
Het |
| Lgals4 |
G |
T |
7: 28,540,117 (GRCm39) |
|
|
Het |
| Lrrc8d |
A |
G |
5: 105,959,626 (GRCm39) |
D12G |
probably damaging |
Het |
| Lrwd1 |
C |
T |
5: 136,161,888 (GRCm39) |
V207M |
possibly damaging |
Het |
| Mbd1 |
T |
A |
18: 74,406,762 (GRCm39) |
|
probably null |
Het |
| Msi1 |
T |
A |
5: 115,588,984 (GRCm39) |
I333N |
probably damaging |
Het |
| Neo1 |
C |
T |
9: 58,814,354 (GRCm39) |
V871I |
probably benign |
Het |
| Nr2c1 |
T |
C |
10: 94,024,078 (GRCm39) |
C428R |
probably damaging |
Het |
| Ntm |
A |
G |
9: 29,322,978 (GRCm39) |
L14P |
probably damaging |
Het |
| Nxpe4 |
A |
T |
9: 48,304,145 (GRCm39) |
K77N |
probably damaging |
Het |
| Or1p1c |
A |
C |
11: 74,160,235 (GRCm39) |
T7P |
possibly damaging |
Het |
| Or4c119 |
T |
A |
2: 88,987,505 (GRCm39) |
S5C |
probably damaging |
Het |
| Or4f17-ps1 |
T |
A |
2: 111,358,001 (GRCm39) |
M132K |
probably damaging |
Het |
| Or8g30 |
T |
C |
9: 39,230,074 (GRCm39) |
T279A |
possibly damaging |
Het |
| Or8k18 |
G |
A |
2: 86,085,702 (GRCm39) |
L112F |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,074,701 (GRCm39) |
D418E |
probably damaging |
Het |
| Pde4d |
G |
A |
13: 109,738,320 (GRCm39) |
|
probably null |
Het |
| Pip |
A |
G |
6: 41,828,391 (GRCm39) |
N75S |
possibly damaging |
Het |
| Plcl1 |
G |
C |
1: 55,736,411 (GRCm39) |
R584P |
probably benign |
Het |
| Pnp |
A |
T |
14: 51,188,471 (GRCm39) |
D237V |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,098,281 (GRCm39) |
W857R |
probably damaging |
Het |
| Pramel13 |
T |
C |
4: 144,119,653 (GRCm39) |
T305A |
possibly damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,727,229 (GRCm39) |
M368L |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,501,816 (GRCm39) |
S868R |
probably damaging |
Het |
| R3hdml |
A |
T |
2: 163,344,324 (GRCm39) |
S238C |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,843,697 (GRCm39) |
R173* |
probably null |
Het |
| Sall3 |
A |
G |
18: 81,016,402 (GRCm39) |
S509P |
possibly damaging |
Het |
| Sap130 |
T |
G |
18: 31,799,418 (GRCm39) |
H298Q |
possibly damaging |
Het |
| Selenov |
C |
A |
7: 27,987,458 (GRCm39) |
G307C |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,379,453 (GRCm39) |
H1089Q |
possibly damaging |
Het |
| Setdb2 |
T |
C |
14: 59,656,505 (GRCm39) |
N287D |
probably damaging |
Het |
| Sis |
C |
T |
3: 72,865,507 (GRCm39) |
V182I |
probably benign |
Het |
| Slc32a1 |
A |
C |
2: 158,453,457 (GRCm39) |
D99A |
probably benign |
Het |
| Slk |
A |
G |
19: 47,609,327 (GRCm39) |
D760G |
probably damaging |
Het |
| Smg5 |
T |
A |
3: 88,258,527 (GRCm39) |
D499E |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,723,111 (GRCm39) |
N690Y |
probably benign |
Het |
| Stat3 |
T |
C |
11: 100,780,400 (GRCm39) |
T720A |
possibly damaging |
Het |
| Trdn |
T |
G |
10: 33,015,110 (GRCm39) |
N21K |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,975,992 (GRCm39) |
V118E |
possibly damaging |
Het |
| Vgll3 |
A |
G |
16: 65,612,640 (GRCm39) |
Q41R |
probably damaging |
Het |
| Vmn1r189 |
A |
G |
13: 22,286,525 (GRCm39) |
V104A |
probably damaging |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,389 (GRCm39) |
R79S |
probably benign |
Het |
| Zscan4c |
T |
C |
7: 10,740,856 (GRCm39) |
M125T |
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 |
|
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'- CGGTCATGTGCAGTTGTTAAGAAC -3'
(R):5'- AGAGAGGAAGTCACCCTGTG -3'
Sequencing Primer
(F):5'- CAGTTGTTAAGAACACAGCCTGGTC -3'
(R):5'- CTGTGGGCTGCCCTCTATG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation