Incidental Mutation 'R5519:Pde11a'
ID |
431446 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde11a
|
Ensembl Gene |
ENSMUSG00000075270 |
Gene Name |
phosphodiesterase 11A |
Synonyms |
A630086N24Rik, 6330414F14Rik |
MMRRC Submission |
043078-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R5519 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
75819485-76169118 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75906299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 639
(K639N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099992]
|
AlphaFold |
P0C1Q2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099992
AA Change: K639N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097572 Gene: ENSMUSG00000075270 AA Change: K639N
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: K246N
|
SMART Domains |
Protein: ENSMUSP00000115662 Gene: ENSMUSG00000075270 AA Change: K246N
Domain | Start | End | E-Value | Type |
GAF
|
41 |
207 |
9.16e-19 |
SMART |
HDc
|
269 |
438 |
2.04e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.7%
- 20x: 88.5%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067K01Rik |
T |
C |
8: 84,729,621 (GRCm39) |
V99A |
possibly damaging |
Het |
2510009E07Rik |
A |
G |
16: 21,472,218 (GRCm39) |
S91P |
probably benign |
Het |
2810021J22Rik |
G |
A |
11: 58,770,923 (GRCm39) |
S135N |
probably benign |
Het |
A530084C06Rik |
T |
C |
13: 31,742,702 (GRCm39) |
|
probably benign |
Het |
Acadsb |
T |
C |
7: 131,031,694 (GRCm39) |
S177P |
probably damaging |
Het |
Acp3 |
C |
A |
9: 104,168,687 (GRCm39) |
G393W |
probably damaging |
Het |
Axl |
G |
A |
7: 25,478,087 (GRCm39) |
A204V |
possibly damaging |
Het |
Birc6 |
A |
T |
17: 74,887,173 (GRCm39) |
M806L |
probably benign |
Het |
Cacna1i |
T |
C |
15: 80,255,700 (GRCm39) |
L861P |
probably damaging |
Het |
Cfap44 |
A |
T |
16: 44,224,451 (GRCm39) |
D53V |
probably damaging |
Het |
Col9a1 |
G |
A |
1: 24,269,335 (GRCm39) |
|
probably null |
Het |
Ctf2 |
T |
A |
7: 127,318,463 (GRCm39) |
I179L |
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Emilin2 |
G |
A |
17: 71,559,930 (GRCm39) |
P1016S |
probably benign |
Het |
Gm12790 |
G |
A |
4: 101,824,888 (GRCm39) |
P127S |
probably benign |
Het |
Gsap |
T |
A |
5: 21,494,857 (GRCm39) |
V24E |
probably damaging |
Het |
Ipp |
T |
C |
4: 116,367,964 (GRCm39) |
F66L |
possibly damaging |
Het |
Jakmip3 |
T |
C |
7: 138,609,520 (GRCm39) |
I208T |
probably damaging |
Het |
Med30 |
G |
T |
15: 52,584,462 (GRCm39) |
D127Y |
probably damaging |
Het |
Mosmo |
C |
T |
7: 120,329,733 (GRCm39) |
P118L |
probably benign |
Het |
Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Or51a42 |
G |
A |
7: 103,708,504 (GRCm39) |
Q102* |
probably null |
Het |
Padi2 |
A |
G |
4: 140,676,533 (GRCm39) |
D557G |
probably damaging |
Het |
Pspc1 |
T |
C |
14: 57,009,413 (GRCm39) |
I140M |
probably benign |
Het |
Rundc3a |
A |
T |
11: 102,292,857 (GRCm39) |
I417F |
probably benign |
Het |
Scn1a |
T |
A |
2: 66,162,557 (GRCm39) |
I230F |
probably damaging |
Het |
Serpinb3b |
A |
G |
1: 107,087,506 (GRCm39) |
M1T |
probably null |
Het |
Sin3a |
T |
C |
9: 57,025,457 (GRCm39) |
|
probably null |
Het |
St8sia1 |
T |
C |
6: 142,909,287 (GRCm39) |
N70D |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tpm2 |
T |
G |
4: 43,522,751 (GRCm39) |
D55A |
possibly damaging |
Het |
Trdv1 |
T |
A |
14: 54,119,405 (GRCm39) |
M22K |
probably benign |
Het |
Zc3h4 |
A |
T |
7: 16,169,157 (GRCm39) |
T1089S |
unknown |
Het |
Zfp518b |
G |
A |
5: 38,831,441 (GRCm39) |
T188M |
probably damaging |
Het |
Zfp74 |
G |
T |
7: 29,634,559 (GRCm39) |
A383D |
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 |
|
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 |
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'- CACCCTGCAGGATTCTCATG -3'
(R):5'- AGGGCTGTGTAAAGCTAGTG -3'
Sequencing Primer
(F):5'- TGACACTTTCATGGCATCCACAAG -3'
(R):5'- TCAGAACTGACCATTGGTGAC -3'
|
Posted On |
2016-10-05 |