Incidental Mutation 'R7671:Pde11a'
| ID |
592142 |
| 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: 0.127)
|
| Stock # |
R7671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
75989141-76338774 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76215353 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 376
(F376I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099992]
|
| AlphaFold |
P0C1Q2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099992
AA Change: F376I
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: F376I
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000115662
Gene: ENSMUSG00000075270
AA Change: F14I
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
41 |
207 |
9.16e-19 |
SMART |
|
HDc
|
269 |
438 |
2.04e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
C |
A |
7: 75,569,900 (GRCm38) |
T17K |
probably damaging |
Het |
| Ankrd29 |
T |
A |
18: 12,260,986 (GRCm38) |
K257I |
probably damaging |
Het |
| Bicc1 |
A |
G |
10: 70,957,167 (GRCm38) |
L219P |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 36,943,231 (GRCm38) |
F1146L |
probably damaging |
Het |
| Boc |
C |
T |
16: 44,491,849 (GRCm38) |
V617M |
|
Het |
| Ccl8 |
A |
G |
11: 82,115,207 (GRCm38) |
|
probably benign |
Het |
| Col18a1 |
A |
G |
10: 77,085,383 (GRCm38) |
L261P |
unknown |
Het |
| Col5a3 |
T |
A |
9: 20,775,086 (GRCm38) |
|
probably null |
Het |
| Cryba4 |
A |
C |
5: 112,248,173 (GRCm38) |
|
probably null |
Het |
| Csf2rb |
A |
G |
15: 78,338,930 (GRCm38) |
Y114C |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,472,016 (GRCm38) |
D484G |
probably damaging |
Het |
| Ctnnal1 |
A |
G |
4: 56,837,848 (GRCm38) |
F261L |
probably damaging |
Het |
| Defb22 |
A |
T |
2: 152,486,030 (GRCm38) |
N78K |
unknown |
Het |
| Dele1 |
T |
A |
18: 38,259,925 (GRCm38) |
I394N |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,837,434 (GRCm38) |
|
probably null |
Het |
| Elp4 |
G |
T |
2: 105,904,481 (GRCm38) |
A3E |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,273,910 (GRCm38) |
V607A |
probably benign |
Het |
| Epsti1 |
A |
G |
14: 77,904,490 (GRCm38) |
Y2C |
probably damaging |
Het |
| Fam81b |
G |
T |
13: 76,271,294 (GRCm38) |
L46I |
possibly damaging |
Het |
| Fam81b |
A |
C |
13: 76,271,293 (GRCm38) |
L46R |
probably damaging |
Het |
| Fbxo15 |
T |
A |
18: 84,964,153 (GRCm38) |
H288Q |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,815,980 (GRCm38) |
N77I |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,912,852 (GRCm38) |
Y715C |
possibly damaging |
Het |
| Hist3h2ba |
T |
C |
11: 58,949,276 (GRCm38) |
S113P |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,628,119 (GRCm38) |
D1539G |
probably damaging |
Het |
| Kcp |
T |
C |
6: 29,496,517 (GRCm38) |
N633S |
probably benign |
Het |
| Krt6a |
C |
A |
15: 101,690,543 (GRCm38) |
S529I |
unknown |
Het |
| Leo1 |
A |
G |
9: 75,445,562 (GRCm38) |
H129R |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,579,349 (GRCm38) |
V55M |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,537,569 (GRCm38) |
S472P |
probably benign |
Het |
| Med27 |
T |
A |
2: 29,377,938 (GRCm38) |
V33D |
|
Het |
| Mgat4f |
T |
C |
1: 134,390,062 (GRCm38) |
C191R |
probably benign |
Het |
| Mup15 |
C |
T |
4: 61,438,289 (GRCm38) |
E80K |
probably benign |
Het |
| Myo18a |
G |
A |
11: 77,859,420 (GRCm38) |
R199H |
|
Het |
| Nebl |
T |
A |
2: 17,390,916 (GRCm38) |
R558* |
probably null |
Het |
| Or10ak8 |
A |
T |
4: 118,916,986 (GRCm38) |
H160Q |
probably benign |
Het |
| Or11g7 |
G |
T |
14: 50,453,885 (GRCm38) |
V278L |
probably benign |
Het |
| Or12e9 |
A |
G |
2: 87,372,269 (GRCm38) |
T246A |
probably damaging |
Het |
| Or4a79 |
A |
T |
2: 89,721,259 (GRCm38) |
I284K |
probably damaging |
Het |
| Or5p78 |
T |
C |
7: 108,612,991 (GRCm38) |
I228T |
probably damaging |
Het |
| Or6c217 |
T |
C |
10: 129,902,353 (GRCm38) |
D119G |
probably damaging |
Het |
| Or8b41 |
A |
T |
9: 38,143,440 (GRCm38) |
M97L |
probably benign |
Het |
| Prima1 |
A |
T |
12: 103,235,661 (GRCm38) |
C52S |
probably damaging |
Het |
| Pxn |
G |
A |
5: 115,548,547 (GRCm38) |
R366H |
not run |
Het |
| Sgce |
T |
C |
6: 4,691,564 (GRCm38) |
Y337C |
probably damaging |
Het |
| Slc25a10 |
T |
A |
11: 120,495,460 (GRCm38) |
M130K |
probably benign |
Het |
| Slc29a2 |
A |
T |
19: 5,024,262 (GRCm38) |
N5I |
probably benign |
Het |
| Slc35a1 |
A |
T |
4: 34,673,875 (GRCm38) |
H150Q |
|
Het |
| Slc5a4a |
T |
A |
10: 76,147,550 (GRCm38) |
V7D |
unknown |
Het |
| Stk17b |
T |
A |
1: 53,766,000 (GRCm38) |
D134V |
probably damaging |
Het |
| Tex55 |
C |
T |
16: 38,828,091 (GRCm38) |
D219N |
possibly damaging |
Het |
| Thbs3 |
T |
A |
3: 89,216,707 (GRCm38) |
S36T |
probably benign |
Het |
| Thsd4 |
A |
G |
9: 60,428,174 (GRCm38) |
S152P |
probably benign |
Het |
| Tmem67 |
G |
T |
4: 12,063,698 (GRCm38) |
H422N |
probably benign |
Het |
| Tram1 |
C |
A |
1: 13,589,644 (GRCm38) |
V27F |
probably damaging |
Het |
| Trim14 |
A |
G |
4: 46,507,238 (GRCm38) |
V326A |
possibly damaging |
Het |
|
| Other mutations in Pde11a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00839:Pde11a
|
APN |
2 |
76,215,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01528:Pde11a
|
APN |
2 |
76,194,956 (GRCm38) |
splice site |
probably benign |
|
|
IGL02117:Pde11a
|
APN |
2 |
75,991,262 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02428:Pde11a
|
APN |
2 |
76,046,845 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02455:Pde11a
|
APN |
2 |
76,158,393 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
IGL02731:Pde11a
|
APN |
2 |
75,991,239 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03068:Pde11a
|
APN |
2 |
76,017,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03081:Pde11a
|
APN |
2 |
76,075,930 (GRCm38) |
splice site |
probably benign |
|
|
D4186:Pde11a
|
UTSW |
2 |
76,291,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0323:Pde11a
|
UTSW |
2 |
76,046,774 (GRCm38) |
splice site |
probably null |
|
|
R0433:Pde11a
|
UTSW |
2 |
76,337,706 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1226:Pde11a
|
UTSW |
2 |
76,158,354 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1542:Pde11a
|
UTSW |
2 |
76,046,855 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1941:Pde11a
|
UTSW |
2 |
76,291,250 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2107:Pde11a
|
UTSW |
2 |
76,337,922 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2394:Pde11a
|
UTSW |
2 |
76,059,061 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3689:Pde11a
|
UTSW |
2 |
76,291,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3690:Pde11a
|
UTSW |
2 |
76,291,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3945:Pde11a
|
UTSW |
2 |
76,075,931 (GRCm38) |
splice site |
probably benign |
|
|
R4073:Pde11a
|
UTSW |
2 |
76,337,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4074:Pde11a
|
UTSW |
2 |
76,337,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4588:Pde11a
|
UTSW |
2 |
76,029,303 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4602:Pde11a
|
UTSW |
2 |
76,158,333 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4604:Pde11a
|
UTSW |
2 |
76,337,793 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4609:Pde11a
|
UTSW |
2 |
76,291,241 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4610:Pde11a
|
UTSW |
2 |
76,158,333 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5017:Pde11a
|
UTSW |
2 |
76,136,367 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5519:Pde11a
|
UTSW |
2 |
76,075,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5930:Pde11a
|
UTSW |
2 |
76,139,831 (GRCm38) |
splice site |
probably null |
|
|
R6000:Pde11a
|
UTSW |
2 |
76,017,860 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6018:Pde11a
|
UTSW |
2 |
76,017,850 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6913:Pde11a
|
UTSW |
2 |
76,337,740 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7117:Pde11a
|
UTSW |
2 |
76,076,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7258:Pde11a
|
UTSW |
2 |
76,139,906 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7267:Pde11a
|
UTSW |
2 |
76,337,845 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7409:Pde11a
|
UTSW |
2 |
76,005,984 (GRCm38) |
missense |
|
|
|
R7451:Pde11a
|
UTSW |
2 |
76,022,773 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7452:Pde11a
|
UTSW |
2 |
76,136,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7598:Pde11a
|
UTSW |
2 |
76,136,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7886:Pde11a
|
UTSW |
2 |
76,291,203 (GRCm38) |
missense |
probably benign |
|
|
R8045:Pde11a
|
UTSW |
2 |
76,022,728 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8137:Pde11a
|
UTSW |
2 |
76,211,039 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8420:Pde11a
|
UTSW |
2 |
76,059,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8716:Pde11a
|
UTSW |
2 |
76,017,894 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8730:Pde11a
|
UTSW |
2 |
76,058,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8816:Pde11a
|
UTSW |
2 |
76,291,233 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8869:Pde11a
|
UTSW |
2 |
76,211,090 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9023:Pde11a
|
UTSW |
2 |
76,136,459 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9202:Pde11a
|
UTSW |
2 |
76,022,733 (GRCm38) |
nonsense |
probably null |
|
|
R9301:Pde11a
|
UTSW |
2 |
76,017,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9470:Pde11a
|
UTSW |
2 |
75,991,268 (GRCm38) |
missense |
probably benign |
|
|
R9570:Pde11a
|
UTSW |
2 |
76,046,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9728:Pde11a
|
UTSW |
2 |
76,291,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Pde11a
|
UTSW |
2 |
76,194,905 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTATAGACGTGGGTTGATTTCC -3'
(R):5'- AACAACTCAACGTCTGGCTC -3'
Sequencing Primer
(F):5'- GCATTGTTTAAAGGGATCTTCAGCCC -3'
(R):5'- CAACGTCTGGCTCATTCGATTGAAAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation