Incidental Mutation 'R0091:Adcy5'
| ID |
20243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy5
|
| Ensembl Gene |
ENSMUSG00000022840 |
| Gene Name |
adenylate cyclase 5 |
| Synonyms |
AC5 |
| MMRRC Submission |
038378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R0091 (G1)
|
| Quality Score |
151 |
|
Status
|
Validated
(trace)
|
| Chromosome |
16 |
| Chromosomal Location |
34975247-35126108 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 35091368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114913]
|
| AlphaFold |
P84309 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000114913
|
| SMART Domains |
Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232470
|
| Meta Mutation Damage Score |
0.9492 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.9%
- 10x: 94.4%
- 20x: 84.5%
|
| Validation Efficiency |
98% (86/88) |
| 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 |
|---|
| Abca4 |
T |
C |
3: 121,932,179 (GRCm39) |
S278P |
possibly damaging |
Het |
| Adam11 |
A |
G |
11: 102,663,665 (GRCm39) |
Y281C |
probably damaging |
Het |
| Adam6a |
G |
T |
12: 113,507,849 (GRCm39) |
R74L |
possibly damaging |
Het |
| Adrb2 |
A |
G |
18: 62,312,090 (GRCm39) |
L245P |
probably benign |
Het |
| Aebp2 |
T |
C |
6: 140,589,800 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,343,070 (GRCm39) |
T240A |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,423,794 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,274,213 (GRCm39) |
Y416F |
probably damaging |
Het |
| Atp5mc2 |
A |
C |
15: 102,571,492 (GRCm39) |
L133R |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,136,233 (GRCm39) |
Y326N |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,757,297 (GRCm39) |
S189G |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,489,772 (GRCm39) |
I477N |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,796,574 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,415,301 (GRCm39) |
|
probably benign |
Het |
| Dcn |
A |
G |
10: 97,342,551 (GRCm39) |
N169S |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,473,974 (GRCm39) |
|
probably benign |
Het |
| Egln3 |
A |
G |
12: 54,228,432 (GRCm39) |
F225L |
probably benign |
Het |
| Erap1 |
G |
A |
13: 74,816,171 (GRCm39) |
R100Q |
possibly damaging |
Het |
| Erc2 |
A |
T |
14: 27,498,781 (GRCm39) |
|
probably null |
Het |
| Fto |
G |
A |
8: 92,168,435 (GRCm39) |
|
probably null |
Het |
| Gdap1l1 |
C |
T |
2: 163,288,011 (GRCm39) |
P80S |
probably damaging |
Het |
| Gm1123 |
T |
C |
9: 98,905,405 (GRCm39) |
E35G |
possibly damaging |
Het |
| Hhipl1 |
A |
G |
12: 108,288,156 (GRCm39) |
|
probably benign |
Het |
| Ift80 |
A |
T |
3: 68,822,008 (GRCm39) |
L679Q |
probably damaging |
Het |
| Il18 |
A |
G |
9: 50,488,013 (GRCm39) |
|
probably benign |
Het |
| Inhbb |
T |
C |
1: 119,345,125 (GRCm39) |
Y388C |
probably damaging |
Het |
| Kmt2d |
G |
T |
15: 98,742,360 (GRCm39) |
|
probably benign |
Het |
| Krt20 |
A |
G |
11: 99,328,640 (GRCm39) |
V95A |
probably damaging |
Het |
| Lck |
A |
T |
4: 129,449,474 (GRCm39) |
S274R |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,376,848 (GRCm39) |
N4243I |
probably damaging |
Het |
| Lrrfip2 |
G |
A |
9: 111,043,311 (GRCm39) |
V506I |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,840,507 (GRCm39) |
C1000R |
probably damaging |
Het |
| Matn3 |
G |
A |
12: 9,002,105 (GRCm39) |
D106N |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,980,503 (GRCm39) |
E49G |
probably benign |
Het |
| Mmadhc |
A |
G |
2: 50,182,869 (GRCm39) |
S36P |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,229,629 (GRCm39) |
Y433H |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,692,436 (GRCm39) |
M525V |
probably benign |
Het |
| Myo5a |
C |
T |
9: 75,068,774 (GRCm39) |
R659C |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,568,364 (GRCm39) |
S171G |
probably benign |
Het |
| Or1j18 |
A |
G |
2: 36,624,917 (GRCm39) |
N195D |
probably damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,518 (GRCm39) |
D231E |
probably benign |
Het |
| Or5g29 |
A |
T |
2: 85,421,696 (GRCm39) |
N271Y |
probably benign |
Het |
| P2ry14 |
A |
G |
3: 59,023,314 (GRCm39) |
Y49H |
probably benign |
Het |
| Papss2 |
C |
T |
19: 32,611,302 (GRCm39) |
T17I |
possibly damaging |
Het |
| Pcid2 |
T |
C |
8: 13,135,392 (GRCm39) |
T206A |
probably benign |
Het |
| Pex6 |
A |
G |
17: 47,022,844 (GRCm39) |
E140G |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,821 (GRCm39) |
Y220C |
probably damaging |
Het |
| Prdx2 |
T |
G |
8: 85,698,330 (GRCm39) |
|
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,514,310 (GRCm39) |
L471Q |
probably damaging |
Het |
| Rbm33 |
T |
A |
5: 28,557,604 (GRCm39) |
D232E |
possibly damaging |
Het |
| Rnf214 |
T |
A |
9: 45,809,791 (GRCm39) |
|
probably null |
Het |
| Rora |
G |
A |
9: 69,281,330 (GRCm39) |
R314H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,168,095 (GRCm39) |
|
probably benign |
Het |
| Sag |
T |
C |
1: 87,742,402 (GRCm39) |
V58A |
probably damaging |
Het |
| Serpina3i |
C |
T |
12: 104,231,423 (GRCm39) |
T20M |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,254,537 (GRCm39) |
N578S |
probably benign |
Het |
| Soat2 |
A |
G |
15: 102,066,574 (GRCm39) |
Y285C |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,794,769 (GRCm39) |
Y478C |
probably damaging |
Het |
| Syne4 |
G |
A |
7: 30,018,344 (GRCm39) |
G362E |
probably damaging |
Het |
| Tas2r126 |
A |
T |
6: 42,412,036 (GRCm39) |
M190L |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Ttc19 |
A |
G |
11: 62,199,910 (GRCm39) |
D218G |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,942,800 (GRCm39) |
V629A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,905,968 (GRCm39) |
N521D |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,841,614 (GRCm39) |
E405G |
possibly damaging |
Het |
| Usp46 |
C |
T |
5: 74,163,918 (GRCm39) |
R246Q |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,610,948 (GRCm39) |
D469G |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,262,075 (GRCm39) |
I352F |
possibly damaging |
Het |
| Wdr4 |
G |
A |
17: 31,715,890 (GRCm39) |
T398I |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,968,560 (GRCm39) |
|
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 |
|
|
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 |
|
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'- GAAATGCATCTTTGACCCCTGCAC -3'
(R):5'- TGGTTAAGCTACACTCACAGCCCC -3'
Sequencing Primer
(F):5'- GTATGCCTAGCCCCTGACC -3'
(R):5'- ACTCACAGCCCCCTCCC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation