Incidental Mutation 'IGL02428:Pde11a'
ID |
293011 |
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 # |
IGL02428
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
75819485-76169118 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75877189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 760
(E760G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099992]
|
AlphaFold |
P0C1Q2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099992
AA Change: E760G
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000097572 Gene: ENSMUSG00000075270 AA Change: E760G
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: E367G
|
SMART Domains |
Protein: ENSMUSP00000115662 Gene: ENSMUSG00000075270 AA Change: E367G
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024G13Rik |
T |
C |
14: 32,110,205 (GRCm39) |
|
probably benign |
Het |
AB124611 |
C |
T |
9: 21,440,221 (GRCm39) |
S69L |
possibly damaging |
Het |
Abca6 |
G |
A |
11: 110,069,618 (GRCm39) |
A1566V |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,992,197 (GRCm39) |
I4494V |
possibly damaging |
Het |
Ascc3 |
T |
A |
10: 50,721,791 (GRCm39) |
Y2081* |
probably null |
Het |
Cdc42bpb |
T |
C |
12: 111,289,561 (GRCm39) |
T423A |
probably benign |
Het |
Cdh6 |
T |
A |
15: 13,064,516 (GRCm39) |
I125F |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Csmd2 |
T |
C |
4: 128,368,609 (GRCm39) |
L1845P |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,483,385 (GRCm39) |
V208A |
possibly damaging |
Het |
Fanci |
A |
G |
7: 79,094,264 (GRCm39) |
|
probably benign |
Het |
Fezf2 |
T |
C |
14: 12,344,494 (GRCm38) |
E231G |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,451,484 (GRCm39) |
D1566G |
probably damaging |
Het |
Gm11565 |
A |
G |
11: 99,805,811 (GRCm39) |
T68A |
probably benign |
Het |
Ifng |
G |
A |
10: 118,281,159 (GRCm39) |
R154H |
probably damaging |
Het |
Il1r1 |
G |
A |
1: 40,352,392 (GRCm39) |
E521K |
possibly damaging |
Het |
Irf3 |
G |
T |
7: 44,648,163 (GRCm39) |
L9F |
probably damaging |
Het |
Jade1 |
T |
G |
3: 41,568,374 (GRCm39) |
I814S |
probably benign |
Het |
Kcnh1 |
G |
A |
1: 192,019,851 (GRCm39) |
W365* |
probably null |
Het |
Kif16b |
T |
C |
2: 142,514,280 (GRCm39) |
T1209A |
possibly damaging |
Het |
Mcur1 |
A |
T |
13: 43,695,203 (GRCm39) |
S324T |
probably damaging |
Het |
Mgat2 |
C |
A |
12: 69,231,558 (GRCm39) |
A44E |
probably benign |
Het |
Nox1 |
A |
G |
X: 133,008,583 (GRCm39) |
|
probably benign |
Het |
Oga |
A |
T |
19: 45,753,940 (GRCm39) |
W645R |
probably damaging |
Het |
Or52ae7 |
A |
T |
7: 103,119,590 (GRCm39) |
I115F |
probably benign |
Het |
Or5ak23 |
A |
G |
2: 85,244,537 (GRCm39) |
S229P |
probably benign |
Het |
Pcnt |
A |
T |
10: 76,265,090 (GRCm39) |
I340N |
probably damaging |
Het |
Per3 |
C |
T |
4: 151,102,674 (GRCm39) |
|
probably null |
Het |
Rabep1 |
G |
A |
11: 70,808,306 (GRCm39) |
A421T |
probably benign |
Het |
Rint1 |
C |
T |
5: 23,999,450 (GRCm39) |
Q80* |
probably null |
Het |
Rnaset2b |
G |
A |
17: 7,248,568 (GRCm39) |
|
probably null |
Het |
Sccpdh |
T |
C |
1: 179,508,070 (GRCm39) |
Y237H |
probably benign |
Het |
Scn10a |
T |
A |
9: 119,520,628 (GRCm39) |
T91S |
probably damaging |
Het |
Spock1 |
A |
G |
13: 57,592,245 (GRCm39) |
|
probably benign |
Het |
Stat1 |
A |
G |
1: 52,182,125 (GRCm39) |
|
probably benign |
Het |
Svil |
A |
G |
18: 5,118,203 (GRCm39) |
E2212G |
probably damaging |
Het |
Taok1 |
T |
A |
11: 77,440,103 (GRCm39) |
R635W |
probably benign |
Het |
Vmn1r39 |
A |
G |
6: 66,781,946 (GRCm39) |
I124T |
probably benign |
Het |
Vmn2r32 |
T |
C |
7: 7,477,283 (GRCm39) |
I369M |
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 |
IGL02455:Pde11a
|
APN |
2 |
75,988,737 (GRCm39) |
missense |
possibly damaging |
0.58 |
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 |