Incidental Mutation 'R4073:Pde11a'
| ID |
316373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde11a
|
| Ensembl Gene |
ENSMUSG00000075270 |
| Gene Name |
phosphodiesterase 11A |
| Synonyms |
A630086N24Rik, 6330414F14Rik |
| MMRRC Submission |
041621-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R4073 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
75819485-76169118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76168242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 237
(R237H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099992]
|
| AlphaFold |
P0C1Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099992
AA Change: R237H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: R237H
| 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 |
|
| Meta Mutation Damage Score |
0.7712 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
96% (67/70) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
C |
T |
17: 54,031,494 (GRCm39) |
|
noncoding transcript |
Het |
| Alox12 |
T |
C |
11: 70,138,136 (GRCm39) |
N400D |
probably damaging |
Het |
| Axl |
A |
G |
7: 25,463,336 (GRCm39) |
|
probably benign |
Het |
| Cbs |
C |
T |
17: 31,851,979 (GRCm39) |
C8Y |
possibly damaging |
Het |
| Ccdc103 |
C |
T |
11: 102,774,925 (GRCm39) |
R175W |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,431,578 (GRCm39) |
F171L |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
| Cytl1 |
A |
G |
5: 37,892,940 (GRCm39) |
I17V |
unknown |
Het |
| Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,896,296 (GRCm39) |
S768R |
probably benign |
Het |
| Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
| Ehhadh |
T |
C |
16: 21,585,257 (GRCm39) |
D208G |
probably benign |
Het |
| Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
| Erbin |
T |
C |
13: 103,996,619 (GRCm39) |
E211G |
probably damaging |
Het |
| Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
| Gpd2 |
A |
G |
2: 57,180,025 (GRCm39) |
R91G |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,325,774 (GRCm39) |
D1416G |
probably benign |
Het |
| Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
| Il23r |
A |
G |
6: 67,463,106 (GRCm39) |
I129T |
probably damaging |
Het |
| Jph4 |
T |
C |
14: 55,352,497 (GRCm39) |
S79G |
probably benign |
Het |
| Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
| Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
| Lrrc71 |
G |
A |
3: 87,652,569 (GRCm39) |
T185I |
probably benign |
Het |
| Mroh1 |
A |
G |
15: 76,292,185 (GRCm39) |
D219G |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,633,832 (GRCm39) |
S2342T |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,798,958 (GRCm39) |
S10G |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
| Nrm |
T |
A |
17: 36,172,424 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,395,541 (GRCm39) |
H1047Q |
probably benign |
Het |
| Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
| Or2t47 |
T |
C |
11: 58,442,888 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,500 (GRCm39) |
V277A |
possibly damaging |
Het |
| Or4x13 |
T |
C |
2: 90,231,337 (GRCm39) |
F111L |
probably benign |
Het |
| Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
| Or6aa1 |
T |
A |
7: 86,044,155 (GRCm39) |
I184F |
probably damaging |
Het |
| Or8b38 |
T |
C |
9: 37,973,165 (GRCm39) |
L183P |
probably damaging |
Het |
| Pbx3 |
T |
C |
2: 34,114,424 (GRCm39) |
Y112C |
probably damaging |
Het |
| Phactr1 |
ACTT |
A |
13: 43,213,245 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
| Ptgs1 |
C |
T |
2: 36,127,788 (GRCm39) |
R116C |
probably damaging |
Het |
| Rab39b |
T |
C |
X: 74,618,658 (GRCm39) |
|
probably benign |
Het |
| Rpp25 |
T |
C |
9: 57,411,592 (GRCm39) |
S25P |
probably benign |
Het |
| Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
| Sbk3 |
G |
T |
7: 4,973,501 (GRCm39) |
A41D |
probably damaging |
Het |
| Slc24a3 |
T |
A |
2: 145,455,636 (GRCm39) |
|
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,707,104 (GRCm39) |
I565V |
probably benign |
Het |
| Slc35a3 |
T |
C |
3: 116,468,887 (GRCm39) |
T275A |
probably benign |
Het |
| Spink12 |
A |
G |
18: 44,237,731 (GRCm39) |
N3S |
possibly damaging |
Het |
| Srp72 |
C |
A |
5: 77,146,098 (GRCm39) |
T633K |
probably benign |
Het |
| Tab3 |
G |
T |
X: 84,658,063 (GRCm39) |
V197F |
probably damaging |
Het |
| Taf2 |
A |
G |
15: 54,915,633 (GRCm39) |
L431P |
probably damaging |
Het |
| Tas2r131 |
A |
T |
6: 132,934,802 (GRCm39) |
Y2* |
probably null |
Het |
| Tmprss11e |
T |
C |
5: 86,863,502 (GRCm39) |
T188A |
possibly damaging |
Het |
| Trpv1 |
T |
C |
11: 73,141,606 (GRCm39) |
V175A |
probably damaging |
Het |
| Usp21 |
T |
C |
1: 171,109,746 (GRCm39) |
|
probably benign |
Het |
| Vmn1r25 |
A |
G |
6: 57,955,572 (GRCm39) |
V239A |
possibly damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfhx4 |
G |
T |
3: 5,464,384 (GRCm39) |
C1514F |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGGCATCCGGGATGTTAAC -3'
(R):5'- CATTCTAAGTGCCCTGCTGG -3'
Sequencing Primer
(F):5'- CATCCGGGATGTTAACAGTTTC -3'
(R):5'- GAATCGAGGGTGAATCTGCCTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation