Incidental Mutation 'IGL02731:Pde11a'
ID |
305450 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pde11a
|
Ensembl Gene |
ENSMUSG00000075270 |
Gene Name |
phosphodiesterase 11A |
Synonyms |
A630086N24Rik, 6330414F14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
IGL02731
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
75819485-76169118 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 75821583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 899
(A899S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099992]
|
AlphaFold |
P0C1Q2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099992
AA Change: A899S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000097572 Gene: ENSMUSG00000075270 AA Change: A899S
Domain | Start | End | E-Value | Type |
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
low complexity region
|
149 |
164 |
N/A |
INTRINSIC |
GAF
|
217 |
380 |
1.79e-30 |
SMART |
GAF
|
402 |
568 |
2.34e-25 |
SMART |
HDc
|
661 |
830 |
7.75e-6 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000124825
AA Change: A37S
|
SMART Domains |
Protein: ENSMUSP00000117451 Gene: ENSMUSG00000075270 AA Change: A37S
Domain | Start | End | E-Value | Type |
SCOP:d1f0ja_
|
10 |
47 |
1e-4 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele have enlarged lateral ventricles and exhibit abnormal behavior. [provided by MGI curators]
|
Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Gene trapped(1) |
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap10 |
A |
T |
11: 61,784,302 (GRCm39) |
D515E |
possibly damaging |
Het |
Ankrd13b |
A |
T |
11: 77,367,045 (GRCm39) |
S9R |
probably damaging |
Het |
Ano9 |
G |
A |
7: 140,687,117 (GRCm39) |
A374V |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cep78 |
T |
A |
19: 15,933,670 (GRCm39) |
H636L |
probably benign |
Het |
Chd2 |
A |
G |
7: 73,143,204 (GRCm39) |
V563A |
probably damaging |
Het |
Cndp1 |
G |
T |
18: 84,650,083 (GRCm39) |
D203E |
probably damaging |
Het |
Col16a1 |
G |
A |
4: 129,947,323 (GRCm39) |
|
probably benign |
Het |
Copa |
T |
C |
1: 171,929,785 (GRCm39) |
V284A |
possibly damaging |
Het |
Dlec1 |
A |
G |
9: 118,976,188 (GRCm39) |
T1656A |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,369,434 (GRCm39) |
I89T |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,219,295 (GRCm39) |
S36P |
probably benign |
Het |
Ep300 |
A |
T |
15: 81,532,615 (GRCm39) |
I1618F |
unknown |
Het |
Fan1 |
G |
A |
7: 64,022,741 (GRCm39) |
L171F |
possibly damaging |
Het |
Fancm |
A |
G |
12: 65,135,079 (GRCm39) |
T291A |
probably benign |
Het |
Gm14325 |
T |
C |
2: 177,474,779 (GRCm39) |
K101R |
probably damaging |
Het |
Hmx3 |
A |
T |
7: 131,145,692 (GRCm39) |
|
probably null |
Het |
Htt |
G |
T |
5: 34,961,137 (GRCm39) |
V255L |
probably benign |
Het |
L3mbtl3 |
C |
T |
10: 26,220,074 (GRCm39) |
|
probably null |
Het |
Lmbr1l |
A |
G |
15: 98,815,777 (GRCm39) |
L9P |
probably damaging |
Het |
Lyzl6 |
A |
T |
11: 103,525,903 (GRCm39) |
Y72* |
probably null |
Het |
Mib1 |
A |
G |
18: 10,800,115 (GRCm39) |
E818G |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,050,715 (GRCm39) |
T6405A |
probably damaging |
Het |
Npas3 |
A |
G |
12: 54,114,578 (GRCm39) |
D482G |
probably benign |
Het |
Nuak2 |
C |
A |
1: 132,244,095 (GRCm39) |
A43E |
probably damaging |
Het |
Or10ag2 |
G |
A |
2: 87,249,051 (GRCm39) |
V220I |
probably benign |
Het |
Or4a70 |
T |
C |
2: 89,323,801 (GRCm39) |
Y285C |
probably damaging |
Het |
Or4f4b |
A |
T |
2: 111,313,873 (GRCm39) |
I33L |
probably benign |
Het |
Or5an1 |
T |
C |
19: 12,261,206 (GRCm39) |
S265P |
probably damaging |
Het |
Ppfibp2 |
A |
T |
7: 107,345,629 (GRCm39) |
I884F |
possibly damaging |
Het |
Pus7l |
A |
G |
15: 94,421,345 (GRCm39) |
V655A |
probably benign |
Het |
Rad51ap2 |
A |
G |
12: 11,506,897 (GRCm39) |
D273G |
probably damaging |
Het |
Rc3h2 |
T |
C |
2: 37,272,823 (GRCm39) |
D751G |
probably benign |
Het |
Sdk1 |
C |
T |
5: 142,158,299 (GRCm39) |
A1863V |
probably damaging |
Het |
Spns3 |
T |
C |
11: 72,420,403 (GRCm39) |
Y361C |
probably damaging |
Het |
Srp72 |
T |
A |
5: 77,142,062 (GRCm39) |
I372N |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tcf20 |
A |
G |
15: 82,737,438 (GRCm39) |
S1338P |
probably benign |
Het |
Tcte1 |
G |
A |
17: 45,850,812 (GRCm39) |
V363I |
probably benign |
Het |
Vmn1r42 |
T |
C |
6: 89,822,407 (GRCm39) |
K54R |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,917,274 (GRCm39) |
N3706S |
probably benign |
Het |
Vwde |
T |
C |
6: 13,192,613 (GRCm39) |
Y430C |
probably damaging |
Het |
Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
Zfp959 |
G |
A |
17: 56,202,956 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pde11a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00839:Pde11a
|
APN |
2 |
76,045,729 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01528:Pde11a
|
APN |
2 |
76,025,300 (GRCm39) |
splice site |
probably benign |
|
IGL02117:Pde11a
|
APN |
2 |
75,821,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02428:Pde11a
|
APN |
2 |
75,877,189 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02455:Pde11a
|
APN |
2 |
75,988,737 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL03068:Pde11a
|
APN |
2 |
75,848,208 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03081:Pde11a
|
APN |
2 |
75,906,274 (GRCm39) |
splice site |
probably benign |
|
D4186:Pde11a
|
UTSW |
2 |
76,121,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R0323:Pde11a
|
UTSW |
2 |
75,877,118 (GRCm39) |
splice site |
probably null |
|
R0433:Pde11a
|
UTSW |
2 |
76,168,050 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1226:Pde11a
|
UTSW |
2 |
75,988,698 (GRCm39) |
missense |
probably benign |
0.10 |
R1542:Pde11a
|
UTSW |
2 |
75,877,199 (GRCm39) |
missense |
probably benign |
0.25 |
R1941:Pde11a
|
UTSW |
2 |
76,121,594 (GRCm39) |
missense |
probably benign |
0.10 |
R2107:Pde11a
|
UTSW |
2 |
76,168,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R2394:Pde11a
|
UTSW |
2 |
75,889,405 (GRCm39) |
missense |
probably benign |
0.00 |
R3689:Pde11a
|
UTSW |
2 |
76,121,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R3690:Pde11a
|
UTSW |
2 |
76,121,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R3945:Pde11a
|
UTSW |
2 |
75,906,275 (GRCm39) |
splice site |
probably benign |
|
R4073:Pde11a
|
UTSW |
2 |
76,168,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R4074:Pde11a
|
UTSW |
2 |
76,168,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R4588:Pde11a
|
UTSW |
2 |
75,859,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R4602:Pde11a
|
UTSW |
2 |
75,988,677 (GRCm39) |
missense |
probably benign |
0.05 |
R4604:Pde11a
|
UTSW |
2 |
76,168,137 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4609:Pde11a
|
UTSW |
2 |
76,121,585 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4610:Pde11a
|
UTSW |
2 |
75,988,677 (GRCm39) |
missense |
probably benign |
0.05 |
R5017:Pde11a
|
UTSW |
2 |
75,966,711 (GRCm39) |
missense |
probably benign |
0.05 |
R5519:Pde11a
|
UTSW |
2 |
75,906,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R5930:Pde11a
|
UTSW |
2 |
75,970,175 (GRCm39) |
splice site |
probably null |
|
R6000:Pde11a
|
UTSW |
2 |
75,848,204 (GRCm39) |
missense |
probably damaging |
0.98 |
R6018:Pde11a
|
UTSW |
2 |
75,848,194 (GRCm39) |
missense |
probably benign |
0.00 |
R6913:Pde11a
|
UTSW |
2 |
76,168,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Pde11a
|
UTSW |
2 |
75,906,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R7258:Pde11a
|
UTSW |
2 |
75,970,250 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7267:Pde11a
|
UTSW |
2 |
76,168,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R7409:Pde11a
|
UTSW |
2 |
75,836,328 (GRCm39) |
missense |
|
|
R7451:Pde11a
|
UTSW |
2 |
75,853,117 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7452:Pde11a
|
UTSW |
2 |
75,966,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R7598:Pde11a
|
UTSW |
2 |
75,966,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R7671:Pde11a
|
UTSW |
2 |
76,045,697 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7886:Pde11a
|
UTSW |
2 |
76,121,547 (GRCm39) |
missense |
probably benign |
|
R8045:Pde11a
|
UTSW |
2 |
75,853,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R8137:Pde11a
|
UTSW |
2 |
76,041,383 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8420:Pde11a
|
UTSW |
2 |
75,889,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R8716:Pde11a
|
UTSW |
2 |
75,848,238 (GRCm39) |
missense |
probably damaging |
0.97 |
R8730:Pde11a
|
UTSW |
2 |
75,889,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R8816:Pde11a
|
UTSW |
2 |
76,121,577 (GRCm39) |
missense |
probably benign |
0.00 |
R8869:Pde11a
|
UTSW |
2 |
76,041,434 (GRCm39) |
missense |
probably benign |
0.02 |
R9023:Pde11a
|
UTSW |
2 |
75,966,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R9202:Pde11a
|
UTSW |
2 |
75,853,077 (GRCm39) |
nonsense |
probably null |
|
R9301:Pde11a
|
UTSW |
2 |
75,848,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R9470:Pde11a
|
UTSW |
2 |
75,821,612 (GRCm39) |
missense |
probably benign |
|
R9570:Pde11a
|
UTSW |
2 |
75,877,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R9728:Pde11a
|
UTSW |
2 |
76,121,608 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pde11a
|
UTSW |
2 |
76,025,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |