Incidental Mutation 'IGL03068:Pde11a'
ID |
409759 |
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 # |
IGL03068
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
75819485-76169118 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75848208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 873
(I873T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099992]
|
AlphaFold |
P0C1Q2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099992
AA Change: I873T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097572 Gene: ENSMUSG00000075270 AA Change: I873T
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 |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago3 |
A |
G |
4: 126,311,171 (GRCm39) |
L14P |
probably damaging |
Het |
Ak2 |
G |
T |
4: 128,901,819 (GRCm39) |
|
probably benign |
Het |
Appbp2 |
T |
C |
11: 85,092,246 (GRCm39) |
Y311C |
probably damaging |
Het |
Arl9 |
C |
A |
5: 77,155,225 (GRCm39) |
L119I |
possibly damaging |
Het |
Atp1a1 |
T |
C |
3: 101,491,175 (GRCm39) |
H620R |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,826,682 (GRCm39) |
D381G |
probably benign |
Het |
Cngb3 |
T |
C |
4: 19,375,246 (GRCm39) |
F292S |
possibly damaging |
Het |
Comtd1 |
G |
A |
14: 21,897,711 (GRCm39) |
R203C |
probably damaging |
Het |
Crmp1 |
G |
T |
5: 37,422,633 (GRCm39) |
A147S |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,710,517 (GRCm39) |
H1586L |
possibly damaging |
Het |
Ctnna1 |
G |
A |
18: 35,382,785 (GRCm39) |
E644K |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,841,958 (GRCm39) |
D957G |
possibly damaging |
Het |
Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
Eefsec |
G |
T |
6: 88,235,209 (GRCm39) |
Q576K |
probably benign |
Het |
Efcab5 |
T |
A |
11: 76,994,927 (GRCm39) |
I1215L |
probably benign |
Het |
Etfa |
A |
T |
9: 55,394,766 (GRCm39) |
D160E |
probably benign |
Het |
Exoc7 |
G |
A |
11: 116,191,960 (GRCm39) |
R197C |
possibly damaging |
Het |
G6pc1 |
A |
G |
11: 101,261,576 (GRCm39) |
D92G |
probably benign |
Het |
Gm3182 |
T |
A |
14: 4,483,921 (GRCm38) |
|
probably null |
Het |
Gm4952 |
A |
G |
19: 12,601,068 (GRCm39) |
N96S |
probably damaging |
Het |
Gpr156 |
G |
A |
16: 37,812,491 (GRCm39) |
V276M |
probably damaging |
Het |
Irs2 |
A |
G |
8: 11,054,974 (GRCm39) |
S1153P |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,086,093 (GRCm39) |
|
probably benign |
Het |
Lmo7 |
A |
T |
14: 102,112,928 (GRCm39) |
|
probably benign |
Het |
Mapk4 |
G |
T |
18: 74,103,415 (GRCm39) |
N31K |
probably damaging |
Het |
Mccc2 |
T |
C |
13: 100,100,319 (GRCm39) |
T357A |
probably damaging |
Het |
Mpeg1 |
A |
G |
19: 12,439,570 (GRCm39) |
T343A |
probably benign |
Het |
Myo3b |
G |
T |
2: 70,257,160 (GRCm39) |
|
probably benign |
Het |
Pald1 |
T |
C |
10: 61,156,963 (GRCm39) |
E829G |
possibly damaging |
Het |
Samd9l |
T |
A |
6: 3,375,348 (GRCm39) |
K638* |
probably null |
Het |
Sema4d |
A |
G |
13: 51,862,922 (GRCm39) |
S479P |
probably damaging |
Het |
Slc12a2 |
T |
C |
18: 58,037,407 (GRCm39) |
|
probably benign |
Het |
Slc47a2 |
T |
C |
11: 61,194,769 (GRCm39) |
N470S |
probably damaging |
Het |
Spag17 |
C |
T |
3: 99,987,521 (GRCm39) |
P1604S |
probably benign |
Het |
Taf8 |
C |
A |
17: 47,812,290 (GRCm39) |
V39L |
probably damaging |
Het |
Tlr11 |
A |
G |
14: 50,598,941 (GRCm39) |
E309G |
probably benign |
Het |
Tmem260 |
A |
G |
14: 48,724,371 (GRCm39) |
|
probably benign |
Het |
Tsc1 |
A |
T |
2: 28,571,270 (GRCm39) |
K816M |
probably damaging |
Het |
Ttc29 |
A |
G |
8: 79,052,180 (GRCm39) |
I354V |
probably benign |
Het |
Ttll3 |
A |
T |
6: 113,386,158 (GRCm39) |
N665Y |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,137,041 (GRCm39) |
T971A |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,803,137 (GRCm39) |
I349N |
probably benign |
Het |
Vwa5a |
A |
G |
9: 38,646,143 (GRCm39) |
T504A |
probably benign |
Het |
Ythdf3 |
T |
A |
3: 16,258,882 (GRCm39) |
V354E |
possibly damaging |
Het |
Zan |
C |
A |
5: 137,474,677 (GRCm39) |
G13V |
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 |
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 |
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 |
2016-08-02 |