Incidental Mutation 'R5107:Pde10a'
| ID |
393627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde10a
|
| Ensembl Gene |
ENSMUSG00000023868 |
| Gene Name |
phosphodiesterase 10A |
| Synonyms |
|
| MMRRC Submission |
042695-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5107 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
8744204-9205480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9163802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 191
(N191S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024647]
[ENSMUST00000089085]
[ENSMUST00000115708]
[ENSMUST00000115715]
[ENSMUST00000115717]
[ENSMUST00000115720]
[ENSMUST00000115724]
[ENSMUST00000149440]
[ENSMUST00000231430]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024647
AA Change: N180S
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: N180S
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
21 |
174 |
1.44e-3 |
SMART |
|
GAF
|
196 |
352 |
6.56e-29 |
SMART |
|
HDc
|
442 |
608 |
9.04e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089085
AA Change: N260S
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: N260S
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
101 |
254 |
1.44e-3 |
SMART |
|
GAF
|
276 |
432 |
6.56e-29 |
SMART |
|
HDc
|
522 |
688 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115708
|
| SMART Domains |
Protein: ENSMUSP00000111373
Gene: ENSMUSG00000023868
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
3 |
148 |
5.22e-23 |
SMART |
|
HDc
|
238 |
404 |
9.04e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115715
AA Change: N180S
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: N180S
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
21 |
174 |
1.44e-3 |
SMART |
|
GAF
|
196 |
352 |
6.56e-29 |
SMART |
|
HDc
|
442 |
608 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115717
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115720
AA Change: N243S
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: N243S
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
84 |
237 |
1.44e-3 |
SMART |
|
GAF
|
259 |
415 |
6.56e-29 |
SMART |
|
HDc
|
505 |
671 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115724
AA Change: N314S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: N314S
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
95 |
248 |
1.44e-3 |
SMART |
|
GAF
|
270 |
426 |
6.56e-29 |
SMART |
|
HDc
|
516 |
682 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149440
AA Change: N191S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: N191S
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
32 |
185 |
1.44e-3 |
SMART |
|
GAF
|
207 |
363 |
6.56e-29 |
SMART |
|
HDc
|
453 |
619 |
9.04e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231430
AA Change: N542S
PolyPhen 2
Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.0701 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mutation of this gene results in decreased exploratory behavior, hypoactivity, and a delay in the acquisition of conditioned avoidance behavior. A hypomorphic allele results in increased social behavior. Mice homozygous for a knock-out allele exhibit resistance to diet-induced obesity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
C |
13: 61,001,472 (GRCm39) |
N85S |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,708,977 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Agbl5 |
C |
A |
5: 31,049,822 (GRCm39) |
P257Q |
probably damaging |
Het |
| Angptl2 |
A |
T |
2: 33,118,615 (GRCm39) |
M130L |
probably damaging |
Het |
| Atp6v1f |
T |
A |
6: 29,468,198 (GRCm39) |
|
probably null |
Het |
| Ccdc78 |
G |
A |
17: 26,006,454 (GRCm39) |
V133M |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,215,821 (GRCm39) |
K145E |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,913,057 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
T |
C |
6: 69,608,914 (GRCm39) |
I24V |
possibly damaging |
Het |
| Ikzf3 |
A |
G |
11: 98,381,302 (GRCm39) |
Y93H |
probably damaging |
Het |
| Isl2 |
T |
C |
9: 55,449,570 (GRCm39) |
V82A |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,750,340 (GRCm39) |
|
probably benign |
Het |
| Krt4 |
A |
T |
15: 101,831,226 (GRCm39) |
M225K |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,827,673 (GRCm39) |
V484A |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,267,086 (GRCm39) |
V1592E |
possibly damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,867,533 (GRCm39) |
P736L |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,795,901 (GRCm39) |
F376I |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,409,268 (GRCm39) |
H1117Q |
unknown |
Het |
| Myh7 |
T |
A |
14: 55,223,881 (GRCm39) |
|
probably benign |
Het |
| Myod1 |
G |
T |
7: 46,027,218 (GRCm39) |
A228S |
probably benign |
Het |
| Ntrk1 |
T |
C |
3: 87,702,280 (GRCm39) |
T58A |
probably benign |
Het |
| Or12d17 |
A |
G |
17: 37,777,144 (GRCm39) |
T16A |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,094,893 (GRCm39) |
V559E |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,870,566 (GRCm39) |
S161P |
probably benign |
Het |
| Pias1 |
C |
A |
9: 62,789,510 (GRCm39) |
A566S |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,612,623 (GRCm39) |
|
probably benign |
Het |
| Pmp22 |
A |
G |
11: 63,049,237 (GRCm39) |
E160G |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,135,062 (GRCm39) |
|
probably null |
Het |
| Prob1 |
T |
C |
18: 35,785,989 (GRCm39) |
N755S |
possibly damaging |
Het |
| Rhou |
A |
T |
8: 124,387,912 (GRCm39) |
K215* |
probably null |
Het |
| Scaper |
A |
G |
9: 55,487,616 (GRCm39) |
S749P |
probably damaging |
Het |
| Selenop |
A |
G |
15: 3,305,075 (GRCm39) |
E77G |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,627,572 (GRCm39) |
S490* |
probably null |
Het |
| Slc26a2 |
A |
G |
18: 61,331,632 (GRCm39) |
Y600H |
probably damaging |
Het |
| Slfn8 |
A |
C |
11: 82,907,976 (GRCm39) |
I189S |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,885,752 (GRCm39) |
|
probably null |
Het |
| Tbc1d13 |
G |
A |
2: 30,036,733 (GRCm39) |
E205K |
probably damaging |
Het |
| Tex47 |
C |
T |
5: 7,354,842 (GRCm39) |
R8W |
probably benign |
Het |
| Tmem198b |
T |
C |
10: 128,638,156 (GRCm39) |
T136A |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,305,705 (GRCm39) |
Q414R |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,608,496 (GRCm39) |
I16063T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,693,905 (GRCm39) |
V321A |
possibly damaging |
Het |
| Ubox5 |
A |
G |
2: 130,441,688 (GRCm39) |
L333P |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,286,602 (GRCm39) |
Y78* |
probably null |
Het |
| Wnk4 |
A |
G |
11: 101,166,364 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,340,054 (GRCm39) |
D765G |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,342,205 (GRCm39) |
G1482V |
probably damaging |
Het |
| Znhit1 |
A |
G |
5: 137,015,682 (GRCm39) |
V2A |
probably benign |
Het |
|
| Other mutations in Pde10a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01534:Pde10a
|
APN |
17 |
9,163,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01762:Pde10a
|
APN |
17 |
9,161,750 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01814:Pde10a
|
APN |
17 |
9,147,939 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
IGL02053:Pde10a
|
APN |
17 |
9,193,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02386:Pde10a
|
APN |
17 |
9,172,636 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02573:Pde10a
|
APN |
17 |
9,180,722 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02583:Pde10a
|
APN |
17 |
9,200,462 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02649:Pde10a
|
APN |
17 |
9,172,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02992:Pde10a
|
APN |
17 |
9,168,293 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03109:Pde10a
|
APN |
17 |
9,148,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
brautigam
|
UTSW |
17 |
9,183,509 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Bride
|
UTSW |
17 |
9,168,262 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
buzzed
|
UTSW |
17 |
9,149,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Gracile
|
UTSW |
17 |
9,180,752 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Nubile
|
UTSW |
17 |
9,186,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
thunderball
|
UTSW |
17 |
9,188,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0004:Pde10a
|
UTSW |
17 |
9,200,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0015:Pde10a
|
UTSW |
17 |
9,196,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Pde10a
|
UTSW |
17 |
9,196,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Pde10a
|
UTSW |
17 |
9,161,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1173:Pde10a
|
UTSW |
17 |
9,139,378 (GRCm39) |
splice site |
probably benign |
|
|
R1386:Pde10a
|
UTSW |
17 |
9,172,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Pde10a
|
UTSW |
17 |
9,183,540 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1598:Pde10a
|
UTSW |
17 |
9,147,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Pde10a
|
UTSW |
17 |
9,117,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Pde10a
|
UTSW |
17 |
9,117,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Pde10a
|
UTSW |
17 |
9,197,776 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1960:Pde10a
|
UTSW |
17 |
9,161,750 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2005:Pde10a
|
UTSW |
17 |
9,147,923 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2071:Pde10a
|
UTSW |
17 |
9,180,827 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2121:Pde10a
|
UTSW |
17 |
9,196,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2376:Pde10a
|
UTSW |
17 |
9,149,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3721:Pde10a
|
UTSW |
17 |
9,188,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3872:Pde10a
|
UTSW |
17 |
8,975,923 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4627:Pde10a
|
UTSW |
17 |
9,200,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Pde10a
|
UTSW |
17 |
8,975,885 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5184:Pde10a
|
UTSW |
17 |
9,195,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Pde10a
|
UTSW |
17 |
9,180,812 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5735:Pde10a
|
UTSW |
17 |
9,160,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5878:Pde10a
|
UTSW |
17 |
9,168,204 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5921:Pde10a
|
UTSW |
17 |
9,149,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6027:Pde10a
|
UTSW |
17 |
9,183,509 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6145:Pde10a
|
UTSW |
17 |
9,147,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6279:Pde10a
|
UTSW |
17 |
9,197,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6409:Pde10a
|
UTSW |
17 |
9,168,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6870:Pde10a
|
UTSW |
17 |
9,186,356 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6947:Pde10a
|
UTSW |
17 |
9,188,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Pde10a
|
UTSW |
17 |
9,161,858 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7084:Pde10a
|
UTSW |
17 |
9,159,994 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7294:Pde10a
|
UTSW |
17 |
8,975,853 (GRCm39) |
missense |
probably benign |
|
|
R7339:Pde10a
|
UTSW |
17 |
8,975,860 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7347:Pde10a
|
UTSW |
17 |
9,186,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7373:Pde10a
|
UTSW |
17 |
9,161,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7481:Pde10a
|
UTSW |
17 |
9,168,262 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7833:Pde10a
|
UTSW |
17 |
9,180,752 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7923:Pde10a
|
UTSW |
17 |
9,147,964 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8053:Pde10a
|
UTSW |
17 |
9,193,604 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8137:Pde10a
|
UTSW |
17 |
9,193,647 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8722:Pde10a
|
UTSW |
17 |
9,163,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8918:Pde10a
|
UTSW |
17 |
9,160,063 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8973:Pde10a
|
UTSW |
17 |
9,143,071 (GRCm39) |
missense |
probably benign |
|
|
R9113:Pde10a
|
UTSW |
17 |
9,197,782 (GRCm39) |
missense |
probably benign |
|
|
R9163:Pde10a
|
UTSW |
17 |
9,181,791 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9275:Pde10a
|
UTSW |
17 |
9,200,488 (GRCm39) |
makesense |
probably null |
|
|
R9563:Pde10a
|
UTSW |
17 |
9,020,710 (GRCm39) |
missense |
unknown |
|
|
R9641:Pde10a
|
UTSW |
17 |
9,197,816 (GRCm39) |
missense |
|
|
|
R9660:Pde10a
|
UTSW |
17 |
9,170,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9670:Pde10a
|
UTSW |
17 |
9,020,272 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAGATCATAGAGTTGTGC -3'
(R):5'- GCTGGCTGTGGATAAAGATGC -3'
Sequencing Primer
(F):5'- GCCGTTCTCCAGTGAGATAAG -3'
(R):5'- GCAATTCTATAATCCGCATGCG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation