Incidental Mutation 'R1226:Pde11a'
ID |
152216 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde11a
|
Ensembl Gene |
ENSMUSG00000075270 |
Gene Name |
phosphodiesterase 11A |
Synonyms |
A630086N24Rik, 6330414F14Rik |
MMRRC Submission |
039295-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R1226 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
75819485-76169118 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 75988698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 481
(S481L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099992]
|
AlphaFold |
P0C1Q2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099992
AA Change: S481L
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000097572 Gene: ENSMUSG00000075270 AA Change: S481L
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: S119L
|
SMART Domains |
Protein: ENSMUSP00000115662 Gene: ENSMUSG00000075270 AA Change: S119L
Domain | Start | End | E-Value | Type |
GAF
|
41 |
207 |
9.16e-19 |
SMART |
HDc
|
269 |
438 |
2.04e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.4%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Abcd2 |
G |
T |
15: 91,075,246 (GRCm39) |
A189E |
probably benign |
Het |
Ahcy |
T |
C |
2: 154,906,817 (GRCm39) |
T159A |
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,669,560 (GRCm39) |
V84A |
probably damaging |
Het |
Brwd1 |
G |
A |
16: 95,832,748 (GRCm39) |
T1036M |
probably benign |
Het |
Ccdc187 |
G |
T |
2: 26,166,133 (GRCm39) |
S765R |
probably damaging |
Het |
Cfap210 |
A |
G |
2: 69,617,553 (GRCm39) |
M76T |
possibly damaging |
Het |
Chd1l |
G |
A |
3: 97,469,941 (GRCm39) |
R862* |
probably null |
Het |
Crmp1 |
A |
G |
5: 37,430,778 (GRCm39) |
D71G |
probably damaging |
Het |
Ctif |
CTGTGTCCGGTGT |
CTGT |
18: 75,654,650 (GRCm39) |
|
probably benign |
Het |
Ctsb |
A |
C |
14: 63,379,189 (GRCm39) |
Y267S |
probably damaging |
Het |
Cyp4a12b |
T |
A |
4: 115,290,164 (GRCm39) |
I239N |
possibly damaging |
Het |
Dna2 |
T |
C |
10: 62,796,203 (GRCm39) |
V544A |
possibly damaging |
Het |
Dnhd1 |
T |
A |
7: 105,346,106 (GRCm39) |
F2364Y |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,811,355 (GRCm39) |
E2558V |
probably damaging |
Het |
Gm10061 |
A |
C |
16: 88,948,169 (GRCm39) |
Y48S |
unknown |
Het |
Herc1 |
T |
A |
9: 66,323,545 (GRCm39) |
M1353K |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lin7a |
T |
C |
10: 107,107,780 (GRCm39) |
V20A |
probably benign |
Het |
Lsr |
T |
A |
7: 30,671,308 (GRCm39) |
I142F |
probably damaging |
Het |
Mei1 |
C |
T |
15: 81,964,285 (GRCm39) |
T275I |
possibly damaging |
Het |
Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
Mrpl32 |
A |
G |
13: 14,786,096 (GRCm39) |
I74T |
probably benign |
Het |
Nek11 |
C |
T |
9: 105,270,091 (GRCm39) |
V44I |
probably damaging |
Het |
Noa1 |
A |
G |
5: 77,455,402 (GRCm39) |
V438A |
possibly damaging |
Het |
Or5an1c |
A |
C |
19: 12,218,950 (GRCm39) |
I25R |
probably benign |
Het |
Or7g16 |
C |
T |
9: 18,727,266 (GRCm39) |
C108Y |
probably benign |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Pcdhb17 |
T |
C |
18: 37,620,313 (GRCm39) |
L701P |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,491,861 (GRCm39) |
I602T |
possibly damaging |
Het |
Ptprh |
T |
A |
7: 4,606,091 (GRCm39) |
R3* |
probably null |
Het |
Reln |
A |
G |
5: 22,115,864 (GRCm39) |
L3048P |
probably damaging |
Het |
Slc6a11 |
T |
A |
6: 114,171,624 (GRCm39) |
I265N |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,248,656 (GRCm39) |
S636P |
probably damaging |
Het |
Supt5 |
T |
C |
7: 28,028,172 (GRCm39) |
I44V |
probably benign |
Het |
Tdrd6 |
T |
A |
17: 43,937,523 (GRCm39) |
E1175V |
possibly damaging |
Het |
Tnxb |
A |
C |
17: 34,907,903 (GRCm39) |
T1316P |
probably damaging |
Het |
Ufc1 |
A |
C |
1: 171,116,810 (GRCm39) |
D119E |
probably benign |
Het |
Vmn1r220 |
A |
G |
13: 23,368,294 (GRCm39) |
F134S |
probably damaging |
Het |
Zfp106 |
A |
G |
2: 120,354,560 (GRCm39) |
S1404P |
probably damaging |
Het |
Zfp866 |
A |
G |
8: 70,218,940 (GRCm39) |
F227L |
probably damaging |
Het |
Zfyve28 |
A |
T |
5: 34,374,408 (GRCm39) |
H535Q |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCATTTCAGCCAGACCCAGGCAG -3'
(R):5'- TCCACTCTAGTGGGGAAAGAGCTTC -3'
Sequencing Primer
(F):5'- ACCCAGGCAGTAGCAGTC -3'
(R):5'- AGAGCTTCAAAGTAGCTCCTG -3'
|
Posted On |
2014-01-29 |