Incidental Mutation 'R5017:Pde11a'
| ID |
448970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde11a
|
| Ensembl Gene |
ENSMUSG00000075270 |
| Gene Name |
phosphodiesterase 11A |
| Synonyms |
A630086N24Rik, 6330414F14Rik |
| MMRRC Submission |
042608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R5017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
75819485-76169118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75966711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 579
(D579E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099992]
|
| AlphaFold |
P0C1Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099992
AA Change: D579E
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: D579E
| 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 |
probably benign
Transcript: ENSMUST00000144892
|
| SMART Domains |
Protein: ENSMUSP00000115662
Gene: ENSMUSG00000075270
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
41 |
207 |
9.16e-19 |
SMART |
|
HDc
|
269 |
438 |
2.04e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.1392 |
| Coding Region Coverage |
- 1x: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 87.9%
|
| Validation Efficiency |
96% (46/48) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
C |
14: 68,810,694 (GRCm39) |
D154G |
probably benign |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Arhgef3 |
G |
T |
14: 26,987,487 (GRCm39) |
R20L |
possibly damaging |
Het |
| Birc2 |
A |
T |
9: 7,818,886 (GRCm39) |
C568* |
probably null |
Het |
| Bltp3a |
T |
A |
17: 28,113,713 (GRCm39) |
L1295* |
probably null |
Het |
| Cep44 |
A |
G |
8: 56,997,242 (GRCm39) |
S99P |
possibly damaging |
Het |
| Clstn2 |
A |
G |
9: 97,365,139 (GRCm39) |
W456R |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,970,604 (GRCm39) |
S783T |
probably benign |
Het |
| Endod1 |
G |
A |
9: 14,268,187 (GRCm39) |
R433* |
probably null |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
C |
A |
7: 97,653,482 (GRCm39) |
Y498* |
probably null |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Hapln2 |
A |
G |
3: 87,931,308 (GRCm39) |
V69A |
probably damaging |
Het |
| Ifit3 |
A |
C |
19: 34,564,592 (GRCm39) |
N46T |
possibly damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,200,958 (GRCm39) |
L464S |
probably damaging |
Het |
| Lrrc9 |
C |
A |
12: 72,553,099 (GRCm39) |
R1334S |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,345,906 (GRCm39) |
F2631L |
probably damaging |
Het |
| Mafa |
T |
C |
15: 75,619,338 (GRCm39) |
H145R |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,226,795 (GRCm39) |
T1411A |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,571,717 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,807,484 (GRCm39) |
|
probably benign |
Het |
| Or10g6 |
A |
T |
9: 39,933,672 (GRCm39) |
|
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,821 (GRCm39) |
Y251* |
probably null |
Het |
| Or8g20 |
A |
T |
9: 39,396,051 (GRCm39) |
M166K |
possibly damaging |
Het |
| Phkb |
A |
T |
8: 86,776,438 (GRCm39) |
H954L |
probably benign |
Het |
| Phldb3 |
C |
T |
7: 24,319,521 (GRCm39) |
T353M |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,128 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,353,104 (GRCm39) |
|
probably null |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
C |
A |
18: 78,899,809 (GRCm39) |
G1286V |
possibly damaging |
Het |
| Siglecg |
T |
A |
7: 43,060,810 (GRCm39) |
|
probably benign |
Het |
| Slc25a46 |
A |
T |
18: 31,738,836 (GRCm39) |
H118Q |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,132,510 (GRCm39) |
F167I |
unknown |
Het |
| Sycp1 |
A |
T |
3: 102,803,303 (GRCm39) |
|
probably null |
Het |
| Tmem132c |
A |
G |
5: 127,640,414 (GRCm39) |
T862A |
probably benign |
Het |
| Tmem256 |
T |
C |
11: 69,729,818 (GRCm39) |
|
probably benign |
Het |
| Tpr |
A |
T |
1: 150,274,388 (GRCm39) |
E98D |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,344,155 (GRCm39) |
D623G |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,812,879 (GRCm39) |
N1485S |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,894,580 (GRCm39) |
|
probably benign |
Het |
| Vmn1r227 |
T |
C |
17: 20,956,340 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo6 |
G |
A |
7: 125,703,919 (GRCm39) |
A21V |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
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 |
|
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 |
|
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'- TTGAGACCCAGTGACGAGAG -3'
(R):5'- GGAACTGTCTCTGGTGACTG -3'
Sequencing Primer
(F):5'- GACCAGTGCTCTAAAAGATTCTGAGC -3'
(R):5'- GTGACTGCCTGCTTTCATATTAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation