Incidental Mutation 'IGL03300:Pclo'
ID | 416200 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pclo
|
Ensembl Gene |
ENSMUSG00000061601 |
Gene Name | piccolo (presynaptic cytomatrix protein) |
Synonyms | Acz, Pico |
Accession Numbers |
Ncbi RefSeq: NM_011995.4; NM_001110796.1; MGI:1349390
|
Is this an essential gene? |
Non essential (E-score: 0.000)
|
Stock # | IGL03300
|
Quality Score | |
Status |
|
Chromosome | 5 |
Chromosomal Location | 14514918-14863459 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to G
at 14712798 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 3762
(M3762V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030691]
[ENSMUST00000182407]
|
Predicted Effect |
unknown
Transcript: ENSMUST00000030691
AA Change: M3762V
|
SMART Domains |
Protein: ENSMUSP00000030691 Gene: ENSMUSG00000061601 AA Change: M3762V
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
30 |
N/A |
INTRINSIC |
low complexity region
|
90 |
106 |
N/A |
INTRINSIC |
internal_repeat_2
|
192 |
304 |
1.23e-13 |
PROSPERO |
internal_repeat_2
|
305 |
389 |
1.23e-13 |
PROSPERO |
low complexity region
|
393 |
489 |
N/A |
INTRINSIC |
low complexity region
|
513 |
525 |
N/A |
INTRINSIC |
Pfam:zf-piccolo
|
530 |
589 |
5.2e-30 |
PFAM |
low complexity region
|
636 |
647 |
N/A |
INTRINSIC |
low complexity region
|
657 |
686 |
N/A |
INTRINSIC |
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
low complexity region
|
722 |
738 |
N/A |
INTRINSIC |
low complexity region
|
798 |
824 |
N/A |
INTRINSIC |
low complexity region
|
825 |
839 |
N/A |
INTRINSIC |
low complexity region
|
898 |
910 |
N/A |
INTRINSIC |
low complexity region
|
961 |
978 |
N/A |
INTRINSIC |
Pfam:zf-piccolo
|
995 |
1053 |
6.7e-33 |
PFAM |
low complexity region
|
1070 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1092 |
1107 |
N/A |
INTRINSIC |
low complexity region
|
1150 |
1179 |
N/A |
INTRINSIC |
internal_repeat_4
|
1196 |
1249 |
1.65e-5 |
PROSPERO |
low complexity region
|
1275 |
1289 |
N/A |
INTRINSIC |
low complexity region
|
1320 |
1331 |
N/A |
INTRINSIC |
low complexity region
|
1332 |
1343 |
N/A |
INTRINSIC |
low complexity region
|
1397 |
1411 |
N/A |
INTRINSIC |
low complexity region
|
1444 |
1457 |
N/A |
INTRINSIC |
low complexity region
|
1497 |
1511 |
N/A |
INTRINSIC |
low complexity region
|
1668 |
1681 |
N/A |
INTRINSIC |
coiled coil region
|
1704 |
1748 |
N/A |
INTRINSIC |
low complexity region
|
1789 |
1800 |
N/A |
INTRINSIC |
low complexity region
|
2046 |
2061 |
N/A |
INTRINSIC |
low complexity region
|
2109 |
2137 |
N/A |
INTRINSIC |
low complexity region
|
2335 |
2366 |
N/A |
INTRINSIC |
low complexity region
|
2374 |
2389 |
N/A |
INTRINSIC |
low complexity region
|
2413 |
2423 |
N/A |
INTRINSIC |
low complexity region
|
2487 |
2498 |
N/A |
INTRINSIC |
low complexity region
|
2605 |
2633 |
N/A |
INTRINSIC |
low complexity region
|
2727 |
2738 |
N/A |
INTRINSIC |
low complexity region
|
2792 |
2808 |
N/A |
INTRINSIC |
low complexity region
|
3117 |
3128 |
N/A |
INTRINSIC |
coiled coil region
|
3136 |
3189 |
N/A |
INTRINSIC |
coiled coil region
|
3210 |
3243 |
N/A |
INTRINSIC |
internal_repeat_4
|
3473 |
3521 |
1.65e-5 |
PROSPERO |
coiled coil region
|
3688 |
3731 |
N/A |
INTRINSIC |
low complexity region
|
3735 |
3750 |
N/A |
INTRINSIC |
low complexity region
|
3863 |
3883 |
N/A |
INTRINSIC |
low complexity region
|
3947 |
3961 |
N/A |
INTRINSIC |
low complexity region
|
4004 |
4015 |
N/A |
INTRINSIC |
low complexity region
|
4149 |
4160 |
N/A |
INTRINSIC |
low complexity region
|
4185 |
4196 |
N/A |
INTRINSIC |
low complexity region
|
4210 |
4225 |
N/A |
INTRINSIC |
low complexity region
|
4229 |
4245 |
N/A |
INTRINSIC |
PDZ
|
4439 |
4518 |
3.74e-14 |
SMART |
low complexity region
|
4575 |
4602 |
N/A |
INTRINSIC |
C2
|
4636 |
4750 |
1.44e-21 |
SMART |
low complexity region
|
4764 |
4778 |
N/A |
INTRINSIC |
low complexity region
|
4801 |
4817 |
N/A |
INTRINSIC |
low complexity region
|
4840 |
4850 |
N/A |
INTRINSIC |
low complexity region
|
4870 |
4892 |
N/A |
INTRINSIC |
C2
|
4951 |
5057 |
8.56e-15 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182106
|
Predicted Effect |
unknown
Transcript: ENSMUST00000182407
AA Change: M3762V
|
SMART Domains |
Protein: ENSMUSP00000138419 Gene: ENSMUSG00000061601 AA Change: M3762V
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
30 |
N/A |
INTRINSIC |
low complexity region
|
90 |
106 |
N/A |
INTRINSIC |
internal_repeat_2
|
192 |
304 |
1.06e-13 |
PROSPERO |
internal_repeat_2
|
305 |
389 |
1.06e-13 |
PROSPERO |
low complexity region
|
393 |
489 |
N/A |
INTRINSIC |
low complexity region
|
513 |
525 |
N/A |
INTRINSIC |
Pfam:zf-piccolo
|
528 |
589 |
3e-36 |
PFAM |
low complexity region
|
636 |
647 |
N/A |
INTRINSIC |
low complexity region
|
657 |
686 |
N/A |
INTRINSIC |
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
low complexity region
|
722 |
738 |
N/A |
INTRINSIC |
low complexity region
|
798 |
824 |
N/A |
INTRINSIC |
low complexity region
|
825 |
839 |
N/A |
INTRINSIC |
low complexity region
|
898 |
910 |
N/A |
INTRINSIC |
low complexity region
|
961 |
978 |
N/A |
INTRINSIC |
Pfam:zf-piccolo
|
993 |
1053 |
4.3e-37 |
PFAM |
low complexity region
|
1070 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1092 |
1107 |
N/A |
INTRINSIC |
low complexity region
|
1150 |
1179 |
N/A |
INTRINSIC |
internal_repeat_3
|
1196 |
1249 |
1.46e-5 |
PROSPERO |
low complexity region
|
1275 |
1289 |
N/A |
INTRINSIC |
low complexity region
|
1320 |
1331 |
N/A |
INTRINSIC |
low complexity region
|
1332 |
1343 |
N/A |
INTRINSIC |
low complexity region
|
1397 |
1411 |
N/A |
INTRINSIC |
low complexity region
|
1444 |
1457 |
N/A |
INTRINSIC |
low complexity region
|
1497 |
1511 |
N/A |
INTRINSIC |
low complexity region
|
1668 |
1681 |
N/A |
INTRINSIC |
coiled coil region
|
1704 |
1748 |
N/A |
INTRINSIC |
low complexity region
|
1789 |
1800 |
N/A |
INTRINSIC |
low complexity region
|
2046 |
2061 |
N/A |
INTRINSIC |
low complexity region
|
2109 |
2137 |
N/A |
INTRINSIC |
low complexity region
|
2335 |
2366 |
N/A |
INTRINSIC |
low complexity region
|
2374 |
2389 |
N/A |
INTRINSIC |
low complexity region
|
2413 |
2423 |
N/A |
INTRINSIC |
low complexity region
|
2487 |
2498 |
N/A |
INTRINSIC |
low complexity region
|
2605 |
2633 |
N/A |
INTRINSIC |
low complexity region
|
2727 |
2738 |
N/A |
INTRINSIC |
low complexity region
|
2792 |
2808 |
N/A |
INTRINSIC |
low complexity region
|
3117 |
3128 |
N/A |
INTRINSIC |
coiled coil region
|
3136 |
3189 |
N/A |
INTRINSIC |
coiled coil region
|
3210 |
3243 |
N/A |
INTRINSIC |
internal_repeat_3
|
3473 |
3521 |
1.46e-5 |
PROSPERO |
coiled coil region
|
3688 |
3731 |
N/A |
INTRINSIC |
low complexity region
|
3735 |
3750 |
N/A |
INTRINSIC |
low complexity region
|
3863 |
3883 |
N/A |
INTRINSIC |
low complexity region
|
3947 |
3961 |
N/A |
INTRINSIC |
low complexity region
|
4004 |
4015 |
N/A |
INTRINSIC |
low complexity region
|
4149 |
4160 |
N/A |
INTRINSIC |
low complexity region
|
4185 |
4196 |
N/A |
INTRINSIC |
low complexity region
|
4210 |
4225 |
N/A |
INTRINSIC |
low complexity region
|
4229 |
4245 |
N/A |
INTRINSIC |
PDZ
|
4439 |
4518 |
3.74e-14 |
SMART |
low complexity region
|
4575 |
4602 |
N/A |
INTRINSIC |
C2
|
4636 |
4750 |
1.44e-21 |
SMART |
low complexity region
|
4764 |
4778 |
N/A |
INTRINSIC |
low complexity region
|
4801 |
4817 |
N/A |
INTRINSIC |
low complexity region
|
4840 |
4850 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182426
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182753
|
Predicted Effect |
unknown
Transcript: ENSMUST00000182915
AA Change: M477V
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
Strain: 3699630; 4442915; 4442914
Lethality: D60
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] PHENOTYPE: Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number. [provided by MGI curators]
|
Allele List at MGI |
All alleles(7) : Targeted(5) Gene trapped(2)
|
Other mutations in this stock |
Total: 8 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Gm6614 |
A |
G |
6: 141,994,806 |
F110L |
probably damaging |
Het |
Lpar5 |
T |
C |
6: 125,082,240 |
L308P |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,611,427 |
S515P |
probably damaging |
Het |
Olfr1258 |
T |
A |
2: 89,930,227 |
C139* |
probably null |
Het |
Olfr716 |
T |
C |
7: 107,147,409 |
F31S |
probably damaging |
Het |
Pgr |
G |
A |
9: 8,961,539 |
D871N |
probably damaging |
Het |
Ppfibp1 |
A |
G |
6: 147,030,327 |
E957G |
probably damaging |
Het |
Pus10 |
T |
C |
11: 23,731,368 |
|
probably benign |
Het |
|
Other mutations in Pclo |
|
Posted On | 2016-08-02 |