Incidental Mutation 'R4602:Pde11a'
| ID |
345690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde11a
|
| Ensembl Gene |
ENSMUSG00000075270 |
| Gene Name |
phosphodiesterase 11A |
| Synonyms |
A630086N24Rik, 6330414F14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R4602 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
75819485-76169118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75988677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 488
(V488A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099992]
|
| AlphaFold |
P0C1Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099992
AA Change: V488A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: V488A
| 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: V126A
|
| SMART Domains |
Protein: ENSMUSP00000115662
Gene: ENSMUSG00000075270
AA Change: V126A
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
41 |
207 |
9.16e-19 |
SMART |
|
HDc
|
269 |
438 |
2.04e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,988,189 (GRCm39) |
K3158E |
possibly damaging |
Het |
| Ak7 |
G |
A |
12: 105,679,834 (GRCm39) |
V123M |
probably benign |
Het |
| Ankmy1 |
A |
T |
1: 92,816,372 (GRCm39) |
N247K |
probably benign |
Het |
| Atp1a1 |
A |
G |
3: 101,494,259 (GRCm39) |
V447A |
probably benign |
Het |
| Atp1a4 |
A |
C |
1: 172,067,332 (GRCm39) |
M600R |
probably damaging |
Het |
| Baat |
A |
G |
4: 49,502,727 (GRCm39) |
Y132H |
probably damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,405,906 (GRCm39) |
V215A |
probably damaging |
Het |
| Celf2 |
G |
T |
2: 6,590,831 (GRCm39) |
N279K |
possibly damaging |
Het |
| Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
| Clec14a |
C |
T |
12: 58,314,767 (GRCm39) |
R285H |
probably benign |
Het |
| Ctnna1 |
T |
G |
18: 35,312,880 (GRCm39) |
I244R |
possibly damaging |
Het |
| Dcxr |
T |
A |
11: 120,617,130 (GRCm39) |
N105Y |
possibly damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,468,461 (GRCm39) |
F166L |
probably damaging |
Het |
| Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,584,625 (GRCm39) |
D67G |
probably benign |
Het |
| Fancm |
G |
A |
12: 65,171,718 (GRCm39) |
R1786H |
probably benign |
Het |
| Fnbp1 |
A |
G |
2: 30,926,552 (GRCm39) |
|
probably null |
Het |
| Frem2 |
A |
G |
3: 53,455,228 (GRCm39) |
L2116S |
possibly damaging |
Het |
| Gbp5 |
A |
G |
3: 142,209,546 (GRCm39) |
E164G |
probably benign |
Het |
| Gm4922 |
A |
T |
10: 18,660,007 (GRCm39) |
Y238* |
probably null |
Het |
| Gm8257 |
A |
G |
14: 44,893,774 (GRCm39) |
Y62H |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,755,739 (GRCm39) |
F525S |
probably damaging |
Het |
| Hjv |
T |
G |
3: 96,434,869 (GRCm39) |
S203A |
probably benign |
Het |
| Hsd17b3 |
C |
A |
13: 64,210,984 (GRCm39) |
|
probably null |
Het |
| Ighv1-23 |
T |
A |
12: 114,728,179 (GRCm39) |
Q81L |
probably benign |
Het |
| Inpp4b |
T |
C |
8: 82,696,164 (GRCm39) |
V366A |
probably damaging |
Het |
| Jak1 |
G |
T |
4: 101,036,791 (GRCm39) |
A283D |
possibly damaging |
Het |
| Kmt2d |
G |
T |
15: 98,748,140 (GRCm39) |
|
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,262,086 (GRCm39) |
D354E |
probably damaging |
Het |
| Mettl17 |
T |
C |
14: 52,126,246 (GRCm39) |
V218A |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
C |
T |
8: 108,093,855 (GRCm39) |
Q699* |
probably null |
Het |
| Or4s2b |
G |
A |
2: 88,508,240 (GRCm39) |
V14I |
probably benign |
Het |
| Or4s2b |
T |
G |
2: 88,508,523 (GRCm39) |
V101G |
probably benign |
Het |
| Or7e174 |
C |
A |
9: 20,012,540 (GRCm39) |
H162N |
probably benign |
Het |
| Osbpl7 |
C |
A |
11: 96,947,095 (GRCm39) |
S265R |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,430,046 (GRCm39) |
T1258A |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,705,866 (GRCm39) |
L478Q |
probably damaging |
Het |
| Phactr1 |
A |
T |
13: 43,248,441 (GRCm39) |
E463D |
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,973,520 (GRCm39) |
N282K |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,373,935 (GRCm39) |
Y1109N |
probably damaging |
Het |
| Samd9l |
GAA |
GAAA |
6: 3,373,937 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Serpinb12 |
T |
A |
1: 106,876,883 (GRCm39) |
D66E |
probably benign |
Het |
| Sgk2 |
G |
A |
2: 162,836,674 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
C |
A |
6: 142,047,378 (GRCm39) |
C404F |
probably benign |
Het |
| Spaca6 |
C |
T |
17: 18,051,387 (GRCm39) |
A21V |
probably damaging |
Het |
| Sphkap |
G |
T |
1: 83,256,782 (GRCm39) |
Y322* |
probably null |
Het |
| Sptlc3 |
G |
A |
2: 139,478,600 (GRCm39) |
V520I |
probably benign |
Het |
| Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
| Syt9 |
A |
T |
7: 107,035,594 (GRCm39) |
K204* |
probably null |
Het |
| Taf3 |
A |
G |
2: 9,957,468 (GRCm39) |
V233A |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,637,285 (GRCm39) |
|
probably null |
Het |
| Tdrd5 |
T |
A |
1: 156,111,944 (GRCm39) |
T479S |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
| Tgtp2 |
T |
C |
11: 48,949,811 (GRCm39) |
T254A |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,249,391 (GRCm39) |
Y114C |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ubac1 |
A |
T |
2: 25,888,989 (GRCm39) |
I402N |
probably damaging |
Het |
| Zmat1 |
A |
T |
X: 133,873,694 (GRCm39) |
S566T |
probably damaging |
Homo |
|
| 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 |
|
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'- AGGCAGTAGCAGTCAACAGC -3'
(R):5'- CCATAATGAGGACAAGTGATGTTG -3'
Sequencing Primer
(F):5'- GTCAACAGCAGGCAAAGC -3'
(R):5'- GGACAAGTGATGTTGCTATTAACG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation