Incidental Mutation 'R9728:Pde11a'
| ID |
731137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde11a
|
| Ensembl Gene |
ENSMUSG00000075270 |
| Gene Name |
phosphodiesterase 11A |
| Synonyms |
A630086N24Rik, 6330414F14Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R9728 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
75819485-76169118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 76121608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 324
(L324F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099992]
|
| AlphaFold |
P0C1Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099992
AA Change: L324F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: L324F
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atr |
G |
A |
9: 95,797,050 (GRCm39) |
A1698T |
probably benign |
Het |
| Caml |
T |
A |
13: 55,779,670 (GRCm39) |
S248T |
possibly damaging |
Het |
| Copg1 |
A |
G |
6: 87,879,225 (GRCm39) |
I424V |
probably damaging |
Het |
| Cwh43 |
A |
T |
5: 73,565,629 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Defb1 |
A |
G |
8: 22,284,486 (GRCm39) |
Y35C |
probably damaging |
Het |
| Disc1 |
A |
T |
8: 125,959,795 (GRCm39) |
E769V |
probably null |
Het |
| Egln1 |
G |
A |
8: 125,675,093 (GRCm39) |
T234I |
possibly damaging |
Het |
| Esco2 |
A |
T |
14: 66,069,069 (GRCm39) |
F80L |
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,564,052 (GRCm39) |
A152T |
probably benign |
Het |
| Gcc1 |
T |
C |
6: 28,420,544 (GRCm39) |
R258G |
probably damaging |
Het |
| Gm19410 |
A |
G |
8: 36,247,594 (GRCm39) |
T469A |
possibly damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,689 (GRCm39) |
Q219H |
probably benign |
Het |
| Gpr160 |
A |
G |
3: 30,950,144 (GRCm39) |
N72S |
probably damaging |
Het |
| Hps3 |
C |
A |
3: 20,065,128 (GRCm39) |
A771S |
probably benign |
Het |
| Igkv12-46 |
G |
T |
6: 69,741,967 (GRCm39) |
P4T |
possibly damaging |
Het |
| Iqcf5 |
A |
T |
9: 106,393,168 (GRCm39) |
I142L |
probably damaging |
Het |
| Kcna10 |
A |
T |
3: 107,101,513 (GRCm39) |
N48I |
possibly damaging |
Het |
| Klhdc9 |
A |
G |
1: 171,187,357 (GRCm39) |
S214P |
probably damaging |
Het |
| Knop1 |
C |
T |
7: 118,451,840 (GRCm39) |
S293N |
|
Het |
| Lgr6 |
A |
G |
1: 134,915,245 (GRCm39) |
L778P |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,618,228 (GRCm39) |
N909S |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mei1 |
G |
A |
15: 81,966,098 (GRCm39) |
G240D |
|
Het |
| Miox |
A |
T |
15: 89,218,703 (GRCm39) |
|
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,223,924 (GRCm39) |
Y128C |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,256,915 (GRCm39) |
Y178N |
probably damaging |
Het |
| Or14a259 |
A |
G |
7: 86,012,771 (GRCm39) |
L258P |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,887 (GRCm39) |
N206S |
possibly damaging |
Het |
| Or8u8 |
A |
T |
2: 86,011,636 (GRCm39) |
M273K |
possibly damaging |
Het |
| Pprc1 |
T |
C |
19: 46,060,639 (GRCm39) |
V1568A |
probably damaging |
Het |
| Ralgps1 |
C |
T |
2: 33,163,626 (GRCm39) |
V144M |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,040,856 (GRCm39) |
V1001E |
probably benign |
Het |
| Sapcd2 |
C |
A |
2: 25,262,669 (GRCm39) |
A76D |
probably damaging |
Het |
| Sec24b |
A |
G |
3: 129,790,422 (GRCm39) |
I701T |
probably damaging |
Het |
| Sema4a |
T |
C |
3: 88,348,187 (GRCm39) |
|
probably null |
Het |
| Setd5 |
G |
T |
6: 113,128,366 (GRCm39) |
V1440L |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,106,142 (GRCm39) |
K337E |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc23a2 |
G |
T |
2: 131,900,130 (GRCm39) |
N568K |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 69,962,842 (GRCm39) |
R330G |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,432,707 (GRCm39) |
G861D |
probably damaging |
Het |
| Sun5 |
T |
A |
2: 153,709,466 (GRCm39) |
M75L |
probably benign |
Het |
| Syde1 |
AGCCCGAAAACACGGGGCTCTGC |
AGC |
10: 78,424,638 (GRCm39) |
|
probably null |
Het |
| Synrg |
A |
G |
11: 83,915,117 (GRCm39) |
Y963C |
probably damaging |
Het |
| Tdpoz6 |
A |
T |
3: 93,599,807 (GRCm39) |
C187* |
probably null |
Het |
| Trbv15 |
A |
T |
6: 41,118,550 (GRCm39) |
E102V |
possibly damaging |
Het |
| Trim43b |
G |
T |
9: 88,973,395 (GRCm39) |
H113N |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,726,193 (GRCm39) |
D381Y |
probably benign |
Het |
| Tubb6 |
A |
G |
18: 67,534,671 (GRCm39) |
H190R |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,978,448 (GRCm39) |
L667I |
probably benign |
Het |
| Vav1 |
A |
G |
17: 57,612,459 (GRCm39) |
D570G |
probably benign |
Het |
| Vmn1r214 |
T |
C |
13: 23,219,007 (GRCm39) |
V167A |
probably benign |
Het |
| Vmn2r112 |
G |
A |
17: 22,824,108 (GRCm39) |
M454I |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,568,670 (GRCm39) |
L398I |
possibly damaging |
Het |
| Zfp13 |
C |
T |
17: 23,799,788 (GRCm39) |
R107K |
possibly damaging |
Het |
| Zfp318 |
G |
A |
17: 46,707,713 (GRCm39) |
R257Q |
probably benign |
Het |
| Zfp9 |
G |
T |
6: 118,443,851 (GRCm39) |
A58E |
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 |
|
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 |
|
Z1176:Pde11a
|
UTSW |
2 |
76,025,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCATCCTTTCAGTGAGAGC -3'
(R):5'- GTTAGCTTGGCTCACAATTATCATG -3'
Sequencing Primer
(F):5'- TCCTTTCAGTGAGAGCAGCAATC -3'
(R):5'- TGGCCATTTCAACACAATATCAAATC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation