Incidental Mutation 'IGL02455:Pde11a'
ID |
293818 |
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: 0.127)
|
Stock # |
IGL02455
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
75819485-76169118 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75988737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 468
(D468G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099992]
|
AlphaFold |
P0C1Q2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099992
AA Change: D468G
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097572 Gene: ENSMUSG00000075270 AA Change: D468G
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: ENSMUST00000144892
AA Change: D106G
|
SMART Domains |
Protein: ENSMUSP00000115662 Gene: ENSMUSG00000075270 AA Change: D106G
Domain | Start | End | E-Value | Type |
GAF
|
41 |
207 |
9.16e-19 |
SMART |
HDc
|
269 |
438 |
2.04e-5 |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
A |
G |
17: 36,271,021 (GRCm39) |
V479A |
probably damaging |
Het |
Adam18 |
T |
C |
8: 25,141,864 (GRCm39) |
D235G |
probably damaging |
Het |
Cdh22 |
T |
C |
2: 164,984,175 (GRCm39) |
N359S |
possibly damaging |
Het |
Cebpz |
G |
T |
17: 79,242,465 (GRCm39) |
N396K |
probably benign |
Het |
Celsr3 |
T |
A |
9: 108,720,092 (GRCm39) |
W2493R |
probably benign |
Het |
Clca3a2 |
C |
T |
3: 144,787,172 (GRCm39) |
V500M |
probably benign |
Het |
Clec4a4 |
A |
C |
6: 122,990,739 (GRCm39) |
N160H |
possibly damaging |
Het |
Crb2 |
T |
C |
2: 37,684,576 (GRCm39) |
S1139P |
possibly damaging |
Het |
Dnah8 |
T |
C |
17: 30,891,308 (GRCm39) |
I771T |
probably damaging |
Het |
Etfbkmt |
C |
T |
6: 149,048,724 (GRCm39) |
A121V |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,005,280 (GRCm39) |
L1893Q |
possibly damaging |
Het |
Fbxw13 |
A |
T |
9: 109,012,255 (GRCm39) |
S188T |
probably benign |
Het |
Fign |
T |
C |
2: 63,810,841 (GRCm39) |
D143G |
probably benign |
Het |
Foxj3 |
C |
A |
4: 119,477,434 (GRCm39) |
H381N |
unknown |
Het |
Gpr158 |
A |
T |
2: 21,373,511 (GRCm39) |
T149S |
probably benign |
Het |
Ift74 |
C |
T |
4: 94,524,068 (GRCm39) |
Q195* |
probably null |
Het |
Kif2c |
C |
A |
4: 117,029,551 (GRCm39) |
M143I |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,278,303 (GRCm39) |
|
probably null |
Het |
Krt84 |
C |
T |
15: 101,434,170 (GRCm39) |
R599H |
unknown |
Het |
Ly6g6f |
C |
T |
17: 35,301,866 (GRCm39) |
R196H |
possibly damaging |
Het |
Map4 |
C |
A |
9: 109,828,901 (GRCm39) |
N95K |
probably benign |
Het |
Mrgprx3-ps |
T |
A |
7: 46,959,263 (GRCm39) |
|
noncoding transcript |
Het |
Mroh9 |
T |
C |
1: 162,903,149 (GRCm39) |
M85V |
probably benign |
Het |
Npffr2 |
T |
C |
5: 89,715,994 (GRCm39) |
I107T |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,617,313 (GRCm39) |
V737A |
probably damaging |
Het |
Oprm1 |
A |
G |
10: 6,780,219 (GRCm39) |
T294A |
probably damaging |
Het |
Or10d5j |
T |
C |
9: 39,868,198 (GRCm39) |
E11G |
probably damaging |
Het |
Or5w17 |
A |
T |
2: 87,583,927 (GRCm39) |
S137T |
possibly damaging |
Het |
Or7g32 |
C |
T |
9: 19,408,559 (GRCm39) |
Q172* |
probably null |
Het |
Parvg |
A |
G |
15: 84,214,283 (GRCm39) |
R156G |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,590,189 (GRCm39) |
S830P |
unknown |
Het |
Peak1 |
A |
T |
9: 56,134,757 (GRCm39) |
S195T |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,434,425 (GRCm39) |
Y2338H |
probably damaging |
Het |
Ppp1r1b |
A |
T |
11: 98,241,395 (GRCm39) |
I28F |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,400,084 (GRCm39) |
Y2326C |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,006,302 (GRCm39) |
L223I |
probably damaging |
Het |
Runx3 |
T |
A |
4: 134,902,841 (GRCm39) |
Y310N |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,615,398 (GRCm39) |
D76N |
possibly damaging |
Het |
Slfn4 |
A |
T |
11: 83,077,584 (GRCm39) |
N124I |
probably damaging |
Het |
Spata13 |
G |
A |
14: 60,944,163 (GRCm39) |
V519I |
probably benign |
Het |
Ssh3 |
C |
T |
19: 4,314,460 (GRCm39) |
E365K |
probably damaging |
Het |
Strc |
A |
G |
2: 121,206,272 (GRCm39) |
|
probably benign |
Het |
Tdp2 |
T |
A |
13: 25,025,245 (GRCm39) |
I338N |
probably damaging |
Het |
Vmn1r13 |
A |
T |
6: 57,187,457 (GRCm39) |
R205S |
probably damaging |
Het |
Wdr19 |
G |
T |
5: 65,382,102 (GRCm39) |
A441S |
probably benign |
Het |
Ylpm1 |
A |
G |
12: 85,077,037 (GRCm39) |
D796G |
probably damaging |
Het |
Zbtb11 |
T |
C |
16: 55,821,038 (GRCm39) |
S712P |
probably damaging |
Het |
Zcchc14 |
A |
G |
8: 122,333,009 (GRCm39) |
|
probably benign |
Het |
Zfp608 |
T |
G |
18: 55,032,405 (GRCm39) |
S512R |
probably damaging |
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 |
IGL02731:Pde11a
|
APN |
2 |
75,821,583 (GRCm39) |
missense |
probably benign |
0.00 |
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 |