Mutagenetix > Incidental Mutations

Incidental Mutation 'P0018:Pclo'

7775

Institutional Source

Beutler Lab

Gene Symbol

Pclo

Ensembl Gene

ENSMUSG00000061601

Gene Name

piccolo (presynaptic cytomatrix protein)

Synonyms

Acz, Pico

MMRRC Submission

038271-MU

Accession Numbers

Ncbi RefSeq: NM_011995.4; NM_001110796.1; MGI:1349390

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

P0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

14514918-14863459 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 14677721 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030691] [ENSMUST00000182407]

Predicted Effect

unknown
Transcript: ENSMUST00000030691
AA Change: I2198F

SMART Domains

Protein: ENSMUSP00000030691
Gene: ENSMUSG00000061601
AA Change: I2198F

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

unknown
Transcript: ENSMUST00000182407
AA Change: I2198F

SMART Domains

Protein: ENSMUSP00000138419
Gene: ENSMUSG00000061601
AA Change: I2198F

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

probably benign
Transcript: ENSMUST00000182915

Meta Mutation Damage Score

0.0743

Coding Region Coverage

1x: 83.8%
3x: 77.4%
10x: 57.9%
20x: 38.3%

Validation Efficiency

72% (76/106)

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC067074	A	G	13: 113,367,506	D1723G	possibly damaging	Het
Brip1	C	T	11: 86,108,868	V763I	possibly damaging	Het
Cxxc1	C	T	18: 74,220,921	R593C	probably damaging	Het
Erbb4	T	A	1: 68,071,676	M993L	probably benign	Het
Ftsj3	C	A	11: 106,254,808	M66I	possibly damaging	Het
Galnt2	T	A	8: 124,336,611	Y357N	probably damaging	Het
Gm13178	A	T	4: 144,703,197	D407E	probably benign	Het
Hgsnat	C	T	8: 25,968,354		probably benign	Het
Katna1	A	T	10: 7,741,459	T72S	probably damaging	Het
Nell1	A	G	7: 50,120,691	D166G	probably damaging	Het
Nlgn1	G	T	3: 25,436,577	P329T	probably damaging	Het
Robo2	T	C	16: 74,046,806	I174V	possibly damaging	Het
Sufu	A	G	19: 46,475,494		probably benign	Het
Tmub1	C	A	5: 24,446,757	A55S	possibly damaging	Het

Other mutations in Pclo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Pclo	APN	5	14521677	nonsense	probably null
IGL00429:Pclo	APN	5	14680739	unclassified	probably benign
IGL00498:Pclo	APN	5	14540739	missense	unknown
IGL00528:Pclo	APN	5	14676434	unclassified	probably benign
IGL00743:Pclo	APN	5	14678021	unclassified	probably benign
IGL00809:Pclo	APN	5	14675797	missense	unknown
IGL00811:Pclo	APN	5	14680010	unclassified	probably benign
IGL00819:Pclo	APN	5	14858846	missense	unknown
IGL00870:Pclo	APN	5	14539983	missense	unknown
IGL00925:Pclo	APN	5	14766741	missense	unknown
IGL00960:Pclo	APN	5	14675220	missense	unknown
IGL01013:Pclo	APN	5	14793834	missense	unknown
IGL01112:Pclo	APN	5	14681069	missense	unknown
IGL01124:Pclo	APN	5	14714329	missense	unknown
IGL01150:Pclo	APN	5	14676912	unclassified	probably benign
IGL01302:Pclo	APN	5	14675999	unclassified	probably benign
IGL01389:Pclo	APN	5	14714521	missense	probably damaging	0.99
IGL01448:Pclo	APN	5	14676394	unclassified	probably benign
IGL01449:Pclo	APN	5	14678516	unclassified	probably benign
IGL01450:Pclo	APN	5	14677193	unclassified	probably benign
IGL01476:Pclo	APN	5	14521108	missense	probably damaging	1.00
IGL01537:Pclo	APN	5	14539633	missense	unknown
IGL01568:Pclo	APN	5	14678429	unclassified	probably benign
IGL01574:Pclo	APN	5	14713448	missense	unknown
IGL01637:Pclo	APN	5	14540034	missense	unknown
IGL01646:Pclo	APN	5	14713867	missense	unknown
IGL01672:Pclo	APN	5	14678535	unclassified	probably benign
IGL01705:Pclo	APN	5	14677865	unclassified	probably benign
IGL02127:Pclo	APN	5	14765145	splice site	probably benign
IGL02215:Pclo	APN	5	14856985	missense	unknown
IGL02271:Pclo	APN	5	14679494	unclassified	probably benign
IGL02300:Pclo	APN	5	14713741	missense	unknown
IGL02346:Pclo	APN	5	14677538	unclassified	probably benign
IGL02449:Pclo	APN	5	14515343	missense	probably damaging	1.00
IGL02452:Pclo	APN	5	14676966	unclassified	probably benign
IGL02455:Pclo	APN	5	14540175	missense	unknown
IGL02478:Pclo	APN	5	14766778	missense	unknown
IGL02677:Pclo	APN	5	14676929	unclassified	probably benign
IGL02711:Pclo	APN	5	14522308	missense	unknown
IGL02737:Pclo	APN	5	14714163	missense	unknown
IGL02943:Pclo	APN	5	14669221	missense	unknown
IGL03184:Pclo	APN	5	14714443	missense	probably damaging	1.00
IGL03246:Pclo	APN	5	14677617	unclassified	probably benign
IGL03263:Pclo	APN	5	14681810	missense	unknown
IGL03300:Pclo	APN	5	14712798	missense	unknown
IGL03399:Pclo	APN	5	14766731	missense	unknown
Gauche	UTSW	5	14793855	missense	unknown
PIT4472001:Pclo	UTSW	5	14713168	missense	possibly damaging	0.54
R0014:Pclo	UTSW	5	14680451	unclassified	probably benign
R0014:Pclo	UTSW	5	14680451	unclassified	probably benign
R0020:Pclo	UTSW	5	14669673	missense	unknown
R0045:Pclo	UTSW	5	14539471	missense	unknown
R0046:Pclo	UTSW	5	14540479	missense	unknown
R0046:Pclo	UTSW	5	14540479	missense	unknown
R0128:Pclo	UTSW	5	14679797	unclassified	probably benign
R0130:Pclo	UTSW	5	14679797	unclassified	probably benign
R0141:Pclo	UTSW	5	14791922	missense	unknown
R0226:Pclo	UTSW	5	14765223	missense	probably damaging	0.99
R0243:Pclo	UTSW	5	14775420	missense	unknown
R0267:Pclo	UTSW	5	14681180	missense	unknown
R0313:Pclo	UTSW	5	14678873	unclassified	probably benign
R0324:Pclo	UTSW	5	14669433	missense	unknown
R0331:Pclo	UTSW	5	14680376	unclassified	probably benign
R0370:Pclo	UTSW	5	14521090	missense	probably damaging	1.00
R0398:Pclo	UTSW	5	14681702	missense	unknown
R0401:Pclo	UTSW	5	14681734	missense	unknown
R0417:Pclo	UTSW	5	14713022	missense	unknown
R0468:Pclo	UTSW	5	14677288	unclassified	probably benign
R0472:Pclo	UTSW	5	14681594	missense	unknown
R0488:Pclo	UTSW	5	14669299	missense	unknown
R0511:Pclo	UTSW	5	14678285	unclassified	probably benign
R0511:Pclo	UTSW	5	14679398	unclassified	probably benign
R0520:Pclo	UTSW	5	14713830	nonsense	probably null
R0547:Pclo	UTSW	5	14792072	missense	unknown
R0611:Pclo	UTSW	5	14678775	unclassified	probably benign
R0611:Pclo	UTSW	5	14712814	missense	unknown
R0624:Pclo	UTSW	5	14669656	missense	unknown
R0628:Pclo	UTSW	5	14669538	missense	unknown
R0639:Pclo	UTSW	5	14681749	nonsense	probably null
R0653:Pclo	UTSW	5	14682255	intron	probably benign
R0681:Pclo	UTSW	5	14675318	missense	unknown
R0689:Pclo	UTSW	5	14714019	missense	unknown
R0698:Pclo	UTSW	5	14712516	missense	unknown
R0737:Pclo	UTSW	5	14515439	missense	probably damaging	1.00
R0883:Pclo	UTSW	5	14677859	nonsense	probably null
R0906:Pclo	UTSW	5	14676686	unclassified	probably benign
R1056:Pclo	UTSW	5	14540055	nonsense	probably null
R1107:Pclo	UTSW	5	14677869	unclassified	probably benign
R1174:Pclo	UTSW	5	14677646	unclassified	probably benign
R1184:Pclo	UTSW	5	14522262	missense	unknown
R1302:Pclo	UTSW	5	14681633	missense	unknown
R1318:Pclo	UTSW	5	14679314	unclassified	probably benign
R1342:Pclo	UTSW	5	14682177	intron	probably benign
R1378:Pclo	UTSW	5	14682313	missense	probably benign	0.23
R1418:Pclo	UTSW	5	14678130	unclassified	probably benign
R1471:Pclo	UTSW	5	14680427	unclassified	probably benign
R1485:Pclo	UTSW	5	14713779	missense	unknown
R1523:Pclo	UTSW	5	14788406	missense	unknown
R1527:Pclo	UTSW	5	14679648	unclassified	probably benign
R1531:Pclo	UTSW	5	14521903	missense	probably damaging	0.99
R1537:Pclo	UTSW	5	14712475	missense	unknown
R1574:Pclo	UTSW	5	14679831	unclassified	probably benign
R1574:Pclo	UTSW	5	14679831	unclassified	probably benign
R1581:Pclo	UTSW	5	14521282	missense	probably benign	0.28
R1613:Pclo	UTSW	5	14679132	unclassified	probably benign
R1632:Pclo	UTSW	5	14680003	unclassified	probably benign
R1688:Pclo	UTSW	5	14788493	critical splice donor site	probably null
R1694:Pclo	UTSW	5	14520963	missense	probably damaging	1.00
R1707:Pclo	UTSW	5	14713224	missense	unknown
R1727:Pclo	UTSW	5	14676987	unclassified	probably benign
R1741:Pclo	UTSW	5	14676510	unclassified	probably benign
R1853:Pclo	UTSW	5	14676684	unclassified	probably benign
R1856:Pclo	UTSW	5	14778552	missense	probably damaging	1.00
R1907:Pclo	UTSW	5	14678511	unclassified	probably benign
R1970:Pclo	UTSW	5	14713473	missense	unknown
R1971:Pclo	UTSW	5	14713473	missense	unknown
R1973:Pclo	UTSW	5	14676059	unclassified	probably null
R1978:Pclo	UTSW	5	14713795	missense	unknown
R1999:Pclo	UTSW	5	14677080	unclassified	probably benign
R2015:Pclo	UTSW	5	14521501	missense	probably damaging	0.98
R2084:Pclo	UTSW	5	14682148	missense	probably benign	0.23
R2144:Pclo	UTSW	5	14858752	missense	unknown
R2155:Pclo	UTSW	5	14714295	missense	probably benign	0.02
R2191:Pclo	UTSW	5	14713848	missense	unknown
R2237:Pclo	UTSW	5	14713938	missense	unknown
R2276:Pclo	UTSW	5	14714273	missense	unknown
R2279:Pclo	UTSW	5	14714273	missense	unknown
R2281:Pclo	UTSW	5	14540332	missense	unknown
R2307:Pclo	UTSW	5	14678651	unclassified	probably benign
R2386:Pclo	UTSW	5	14765247	missense	unknown
R2407:Pclo	UTSW	5	14678932	unclassified	probably benign
R2512:Pclo	UTSW	5	14712598	missense	unknown
R2889:Pclo	UTSW	5	14856981	missense	unknown
R2966:Pclo	UTSW	5	14681150	missense	unknown
R3151:Pclo	UTSW	5	14521678	missense	probably damaging	0.99
R3424:Pclo	UTSW	5	14680418	unclassified	probably benign
R3687:Pclo	UTSW	5	14668995	missense	unknown
R3719:Pclo	UTSW	5	14521161	missense	probably benign	0.33
R3739:Pclo	UTSW	5	14680899	missense	unknown
R3745:Pclo	UTSW	5	14678421	unclassified	probably benign
R3771:Pclo	UTSW	5	14539408	critical splice acceptor site	probably null
R3789:Pclo	UTSW	5	14680450	unclassified	probably benign
R3803:Pclo	UTSW	5	14515402	nonsense	probably null
R3902:Pclo	UTSW	5	14712522	missense	probably benign	0.01
R3942:Pclo	UTSW	5	14679918	unclassified	probably benign
R4061:Pclo	UTSW	5	14540566	missense	unknown
R4094:Pclo	UTSW	5	14855645	missense	unknown
R4175:Pclo	UTSW	5	14713875	missense	probably damaging	0.99
R4195:Pclo	UTSW	5	14677563	unclassified	probably benign
R4398:Pclo	UTSW	5	14775366	missense	probably damaging	1.00
R4429:Pclo	UTSW	5	14678100	unclassified	probably benign
R4523:Pclo	UTSW	5	14679992	unclassified	probably benign
R4531:Pclo	UTSW	5	14775408	missense	unknown
R4552:Pclo	UTSW	5	14669271	missense	unknown
R4563:Pclo	UTSW	5	14521369	missense	probably damaging	1.00
R4581:Pclo	UTSW	5	14675505	missense	unknown
R4638:Pclo	UTSW	5	14680433	nonsense	probably null
R4655:Pclo	UTSW	5	14682383	intron	probably benign
R4703:Pclo	UTSW	5	14676480	unclassified	probably benign
R4704:Pclo	UTSW	5	14676480	unclassified	probably benign
R4705:Pclo	UTSW	5	14676480	unclassified	probably benign
R4706:Pclo	UTSW	5	14714207	missense	unknown
R4709:Pclo	UTSW	5	14778558	missense	unknown
R4755:Pclo	UTSW	5	14714348	missense	unknown
R4786:Pclo	UTSW	5	14723267	missense	unknown
R4801:Pclo	UTSW	5	14675815	missense	unknown
R4802:Pclo	UTSW	5	14675815	missense	unknown
R4812:Pclo	UTSW	5	14540025	missense	unknown
R4817:Pclo	UTSW	5	14675031	missense	unknown
R4817:Pclo	UTSW	5	14713125	missense	unknown
R4845:Pclo	UTSW	5	14679118	unclassified	probably benign
R4876:Pclo	UTSW	5	14811680	missense	unknown
R4907:Pclo	UTSW	5	14680051	unclassified	probably benign
R4943:Pclo	UTSW	5	14712637	missense	unknown
R4963:Pclo	UTSW	5	14669221	missense	unknown
R4970:Pclo	UTSW	5	14677882	unclassified	probably benign
R4978:Pclo	UTSW	5	14714478	missense	probably benign	0.23
R4982:Pclo	UTSW	5	14679294	unclassified	probably benign
R5019:Pclo	UTSW	5	14714367	missense	unknown
R5068:Pclo	UTSW	5	14679073	unclassified	probably benign
R5092:Pclo	UTSW	5	14677308	unclassified	probably benign
R5112:Pclo	UTSW	5	14677882	unclassified	probably benign
R5124:Pclo	UTSW	5	14677392	unclassified	probably benign
R5210:Pclo	UTSW	5	14713450	missense	probably damaging	0.99
R5227:Pclo	UTSW	5	14713560	missense	probably benign	0.23
R5264:Pclo	UTSW	5	14676923	unclassified	probably benign
R5280:Pclo	UTSW	5	14540717	missense	unknown
R5286:Pclo	UTSW	5	14679747	unclassified	probably benign
R5297:Pclo	UTSW	5	14676249	unclassified	probably benign
R5344:Pclo	UTSW	5	14676612	unclassified	probably benign
R5354:Pclo	UTSW	5	14678808	unclassified	probably benign
R5358:Pclo	UTSW	5	14712736	nonsense	probably null
R5363:Pclo	UTSW	5	14669410	missense	unknown
R5377:Pclo	UTSW	5	14681353	missense	unknown
R5457:Pclo	UTSW	5	14676143	unclassified	probably benign
R5468:Pclo	UTSW	5	14680952	missense	unknown
R5588:Pclo	UTSW	5	14788398	missense	unknown
R5836:Pclo	UTSW	5	14678535	unclassified	probably benign
R5865:Pclo	UTSW	5	14714478	missense	probably benign	0.23
R5875:Pclo	UTSW	5	14680600	unclassified	probably benign
R5892:Pclo	UTSW	5	14521171	missense	probably damaging	1.00
R5905:Pclo	UTSW	5	14680385	unclassified	probably benign
R5967:Pclo	UTSW	5	14540655	missense	unknown
R6046:Pclo	UTSW	5	14713288	missense	unknown
R6059:Pclo	UTSW	5	14811700	missense	unknown
R6092:Pclo	UTSW	5	14677923	unclassified	probably benign
R6119:Pclo	UTSW	5	14677019	unclassified	probably benign
R6221:Pclo	UTSW	5	14675313	missense	unknown
R6243:Pclo	UTSW	5	14676443	unclassified	probably benign
R6269:Pclo	UTSW	5	14522094	nonsense	probably null
R6303:Pclo	UTSW	5	14677893	unclassified	probably benign
R6304:Pclo	UTSW	5	14677893	unclassified	probably benign
R6453:Pclo	UTSW	5	14676789	unclassified	probably benign
R6460:Pclo	UTSW	5	14679132	unclassified	probably benign
R6497:Pclo	UTSW	5	14793855	missense	unknown
R6498:Pclo	UTSW	5	14669491	missense	unknown
R6524:Pclo	UTSW	5	14718869	missense	unknown
R6682:Pclo	UTSW	5	14539879	missense	unknown
R6823:Pclo	UTSW	5	14677907	unclassified	probably benign
R6830:Pclo	UTSW	5	14681099	missense	unknown
R6831:Pclo	UTSW	5	14788429	nonsense	probably null
R6965:Pclo	UTSW	5	14681962	intron	probably benign
R7012:Pclo	UTSW	5	14750479	missense	unknown
R7028:Pclo	UTSW	5	14713447	missense	unknown
R7030:Pclo	UTSW	5	14676407	missense	probably benign	0.23
R7130:Pclo	UTSW	5	14679342	missense	unknown
R7141:Pclo	UTSW	5	14679257	missense	unknown
R7143:Pclo	UTSW	5	14858822	missense	unknown
R7189:Pclo	UTSW	5	14521918	missense	possibly damaging	0.83
R7190:Pclo	UTSW	5	14679729	missense	unknown
R7273:Pclo	UTSW	5	14681594	missense	unknown
R7341:Pclo	UTSW	5	14675836	missense	unknown
R7361:Pclo	UTSW	5	14793868	missense	probably damaging	0.99
R7390:Pclo	UTSW	5	14682010	missense	unknown
R7396:Pclo	UTSW	5	14539888	missense	unknown
R7428:Pclo	UTSW	5	14750517	missense
R7448:Pclo	UTSW	5	14669617	missense	unknown
R7476:Pclo	UTSW	5	14521331	missense	probably damaging	1.00
R7483:Pclo	UTSW	5	14712592	missense
R7524:Pclo	UTSW	5	14678303	missense	unknown
R7526:Pclo	UTSW	5	14521062	missense	probably benign	0.11
R7537:Pclo	UTSW	5	14682104	missense	unknown
R7597:Pclo	UTSW	5	14677587	missense	unknown
R7597:Pclo	UTSW	5	14858855	missense	unknown
R7605:Pclo	UTSW	5	14679036	missense	unknown
R7646:Pclo	UTSW	5	14520895	missense	probably damaging	1.00
R7685:Pclo	UTSW	5	14680616	missense	unknown
RF015:Pclo	UTSW	5	14515269	missense	unknown
X0058:Pclo	UTSW	5	14682131	missense	probably benign	0.23

Protein Function and Prediction

Piccolo is a member of the presynaptic cytoskeletal matrix between synaptic vesicles that maintains the neurotransmitter release site in register with the postsynaptic reception apparatus. Piccolo is proposed to be a scaffold in regulating active zone assembly (1), actin cytoskeleton, and synaptic vesicle trafficking (2-4). Other studies have determined that Piccolo is a negative presynaptic modulator for behavioral hypersensitivity (5). It also functions to blunt excessive dopaminergic synaptic plasticity (5).

Expression/Localization

Northern blot analysis of mouse tissues revealed high levels of Pclo in cerebrum and cerebellum and moderate levels in pituitary gland, pancreatic islets, and a pheochromocytoma-derived mouse cell line. In situ hybridization of mouse brain revealed piccolo mRNA expressed in cerebral cortex, hippocampus, olfactory bulb, cerebellar cortex, and pituitary gland (6).

Background

Pclo^{tm1Sud/tm1Sud}; MGI:3699630

involves: 129S6/SvEvTac

Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype.

Pclo^{tm3.2Sud/tm3.2Sud}; MGI:4442914

involves: 129S1/Sv * 129X1/SvJ

Mice homozygous for another knock-out allele exhibit some premature lethality (20% die by P60), decreased body size, increased synaptic depression, and abnormal synaptic vesicle number (7).

Pclo^{tm3.3Sud/tm3.3Sud}; MGI:4442915

involves: 129S1/Sv * 129X1/SvJ

Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype (7).

References

1. Zhai, R. G., Vardinon-Friedman, H., Cases-Langhoff, C., Becker, B., Gundelfinger, E. D., Ziv, N. E., and Garner, C. C. (2001) Assembling the Presynaptic Active Zone: A Characterization of an Active One Precursor Vesicle. Neuron. 29, 131-143.

2. Fenster, S. D., Kessels, M. M., Qualmann, B., Chung, W. J., Nash, J., Gundelfinger, E. D., and Garner, C. C. (2003) Interactions between Piccolo and the actin/dynamin-Binding Protein Abp1 Link Vesicle Endocytosis to Presynaptic Active Zones. J Biol Chem. 278, 20268-20277.

3. Fenster, S. D., Chung, W. J., Zhai, R., Cases-Langhoff, C., Voss, B., Garner, A. M., Kaempf, U., Kindler, S., Gundelfinger, E. D., and Garner, C. C. (2000) Piccolo, a Presynaptic Zinc Finger Protein Structurally Related to Bassoon. Neuron. 25, 203-214.

4. Leal-Ortiz, S., Waites, C. L., Terry-Lorenzo, R., Zamorano, P., Gundelfinger, E. D., and Garner, C. C. (2008) Piccolo Modulation of Synapsin1a Dynamics Regulates Synaptic Vesicle Exocytosis. J Cell Biol. 181, 831-846.

5. Cen, X., Nitta, A., Ibi, D., Zhao, Y., Niwa, M., Taguchi, K., Hamada, M., Ito, Y., Ito, Y., Wang, L., and Nabeshima, T. (2008) Identification of Piccolo as a Regulator of Behavioral Plasticity and Dopamine Transporter Internalization. Mol Psychiatry. 13, 349, 451-63.

6. Fujimoto, K., Shibasaki, T., Yokoi, N., Kashima, Y., Matsumoto, M., Sasaki, T., Tajima, N., Iwanaga, T., and Seino, S. (2002) Piccolo, a Ca2+ Sensor in Pancreatic Beta-Cells. Involvement of cAMP-GEFII.Rim2. Piccolo Complex in cAMP-Dependent Exocytosis. J Biol Chem. 277, 50497-50502.

7. Mukherjee, K., Yang, X., Gerber, S. H., Kwon, H. B., Ho, A., Castillo, P. E., Liu, X., and Sudhof, T. C. (2010) Piccolo and Bassoon Maintain Synaptic Vesicle Clustering without Directly Participating in Vesicle Exocytosis. Proc Natl Acad Sci U S A. 107, 6504-6509.

Posted On

2012-10-29

Science Writer

Anne Murray