Mutagenetix > Incidental Mutation

Incidental Mutation 'R4815:Pacsin2'

369739

Institutional Source

Beutler Lab

Gene Symbol

Pacsin2

Ensembl Gene

ENSMUSG00000016664

Gene Name

protein kinase C and casein kinase substrate in neurons 2

Synonyms

Syndapin II

MMRRC Submission

042433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83375607-83464606 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83385059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 11 (D11E)

Ref Sequence

ENSEMBL: ENSMUSP00000155925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056177] [ENSMUST00000165095] [ENSMUST00000171436] [ENSMUST00000230679] [ENSMUST00000230816] [ENSMUST00000231184] [ENSMUST00000231946]

AlphaFold

Q9WVE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056177
AA Change: D278E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058320
Gene: ENSMUSG00000016664
AA Change: D278E

Domain	Start	End	E-Value	Type
FCH	16	104	8.73e-25	SMART
low complexity region	146	162	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
SH3	429	486	2.04e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165095
AA Change: D278E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130098
Gene: ENSMUSG00000016664
AA Change: D278E

Domain	Start	End	E-Value	Type
FCH	16	104	8.73e-25	SMART
low complexity region	146	162	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
SH3	429	486	2.04e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171436
AA Change: D278E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131504
Gene: ENSMUSG00000016664
AA Change: D278E

Domain	Start	End	E-Value	Type
FCH	16	104	8.73e-25	SMART
low complexity region	146	162	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
SH3	429	486	2.04e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230679
AA Change: D278E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000230816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231043

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231184
AA Change: D278E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231946
AA Change: D11E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.1398

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

96% (76/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	T	18: 65,349,955	N327K	probably damaging	Het
Ank2	T	C	3: 126,936,761	T675A	probably benign	Het
Arap3	T	C	18: 37,973,243	T1516A	probably benign	Het
Asb18	A	T	1: 90,014,425	N51K	probably damaging	Het
BC003331	A	G	1: 150,374,846	C294R	probably damaging	Het
C7	A	G	15: 5,059,405	V18A	probably benign	Het
Caap1	A	G	4: 94,501,260	V279A	probably benign	Het
Cacnb2	A	G	2: 14,874,780	D21G	probably damaging	Het
Ccdc171	T	C	4: 83,795,221	S1166P	probably damaging	Het
Chgb	A	T	2: 132,793,299	H387L	probably benign	Het
Chp2	G	A	7: 122,220,900	R91Q	probably damaging	Het
Chuk	C	A	19: 44,077,247	G703*	probably null	Het
Clmn	T	C	12: 104,785,566	D210G	probably damaging	Het
Cyp4f18	A	G	8: 71,995,995	V270A	possibly damaging	Het
Dgcr2	A	G	16: 17,858,619		probably benign	Het
Diaph1	A	T	18: 37,895,203	V411D	unknown	Het
Dkk2	C	T	3: 132,173,785	A75V	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dnase2a	T	C	8: 84,909,877	V187A	probably benign	Het
Dusp19	A	G	2: 80,630,945	M193V	probably benign	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Gm37596	C	T	3: 93,692,286	V259M	probably benign	Het
Golgb1	A	T	16: 36,913,115	Q908L	possibly damaging	Het
Hsp90aa1	T	C	12: 110,695,226	M119V	possibly damaging	Het
Ice2	C	T	9: 69,407,118	R50C	probably damaging	Het
Ifi208	A	T	1: 173,682,837	E186V	probably damaging	Het
Ift122	A	G	6: 115,881,556	K166E	possibly damaging	Het
Jcad	T	A	18: 4,675,223	L995Q	possibly damaging	Het
Kcnc4	A	T	3: 107,458,266	C209S	probably benign	Het
Kmt2a	G	A	9: 44,821,256		probably benign	Het
Lrriq1	T	A	10: 103,144,878	L1465F	probably benign	Het
Map3k7	C	A	4: 31,988,592	T247N	probably damaging	Het
Mctp2	T	G	7: 72,259,349	Q72P	possibly damaging	Het
Miga1	T	C	3: 152,290,806	Y335C	probably benign	Het
Ms4a14	A	T	19: 11,314,277	N19K	probably benign	Het
Mylk	G	A	16: 34,894,925	R541Q	probably damaging	Het
Nav3	T	C	10: 109,823,552	T735A	probably benign	Het
Nlgn1	T	A	3: 25,436,030	H511L	probably damaging	Het
Nlrp4a	A	T	7: 26,450,808	E613D	probably benign	Het
Nuf2	A	G	1: 169,510,468	S247P	probably damaging	Het
Ocstamp	A	G	2: 165,398,182	V28A	probably benign	Het
Odf2	A	C	2: 29,902,240	E155D	possibly damaging	Het
Olfr285	T	C	15: 98,312,680	N290S	probably damaging	Het
Olfr695	G	A	7: 106,874,237	P3S	probably benign	Het
Otud7a	T	C	7: 63,729,910		probably null	Het
Pcdhga5	G	A	18: 37,695,194	V232I	probably damaging	Het
Plcb3	A	G	19: 6,962,984	I439T	possibly damaging	Het
Rag1	A	G	2: 101,643,516	V427A	probably damaging	Het
Ranbp10	A	T	8: 105,826,125	C128*	probably null	Het
Rbm8a2	A	G	1: 175,978,458	V151A	probably damaging	Het
S100pbp	A	G	4: 129,150,933		probably benign	Het
Serpinb5	G	T	1: 106,872,339	L86F	probably damaging	Het
Sgo2b	T	C	8: 63,931,414	I183V	probably benign	Het
Slc25a25	A	T	2: 32,420,410	D112E	probably damaging	Het
Slc30a5	C	T	13: 100,813,710	V103I	probably damaging	Het
Slc9a2	A	T	1: 40,718,849	I183F	probably benign	Het
Srrm4	T	A	5: 116,475,190	K141N	unknown	Het
Tbc1d20	T	C	2: 152,311,989		probably benign	Het
Tep1	A	G	14: 50,841,302	L1498P	probably damaging	Het
Tgfbi	T	C	13: 56,632,120	M494T	probably benign	Het
Tox	A	G	4: 6,823,033	S95P	probably benign	Het
Tpr	G	A	1: 150,398,608	V163I	probably benign	Het
Trpm7	A	G	2: 126,858,492	S2P	probably damaging	Het
Ttn	A	G	2: 76,716,085	M32328T	probably damaging	Het
Vps39	A	T	2: 120,338,559	N289K	probably benign	Het
Xdh	C	T	17: 73,906,215	A847T	probably damaging	Het
Xndc1	G	A	7: 102,073,316	G63R	probably null	Het
Ythdc2	A	G	18: 44,885,240	S1330G	probably benign	Het
Zc3h14	C	G	12: 98,752,848	D157E	probably damaging	Het
Zc3h7b	A	T	15: 81,793,663	K949N	probably damaging	Het
Zp3r	A	T	1: 130,598,912	Y185N	probably damaging	Het

Other mutations in Pacsin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Pacsin2	APN	15	83386686	missense	probably damaging	1.00
IGL02574:Pacsin2	APN	15	83388663	missense	possibly damaging	0.81
R0153:Pacsin2	UTSW	15	83377661	missense	probably benign	0.11
R0399:Pacsin2	UTSW	15	83386782	missense	probably damaging	1.00
R0426:Pacsin2	UTSW	15	83379795	missense	possibly damaging	0.90
R0799:Pacsin2	UTSW	15	83379797	missense	probably benign	0.44
R0842:Pacsin2	UTSW	15	83379181	missense	probably damaging	0.99
R1591:Pacsin2	UTSW	15	83385051	missense	probably damaging	1.00
R2406:Pacsin2	UTSW	15	83385112	unclassified	probably benign
R3906:Pacsin2	UTSW	15	83379055	missense	probably damaging	1.00
R4686:Pacsin2	UTSW	15	83381775	missense	probably benign	0.01
R5849:Pacsin2	UTSW	15	83390518	missense	possibly damaging	0.87
R6010:Pacsin2	UTSW	15	83381819	missense	possibly damaging	0.87
R6152:Pacsin2	UTSW	15	83377699	missense	probably damaging	1.00
R6367:Pacsin2	UTSW	15	83381832	missense	probably benign
R6457:Pacsin2	UTSW	15	83379678	splice site	probably null
R7158:Pacsin2	UTSW	15	83379742	missense	possibly damaging	0.50
R7220:Pacsin2	UTSW	15	83385059	missense	probably damaging	1.00
R8089:Pacsin2	UTSW	15	83379696	missense	probably benign
R8464:Pacsin2	UTSW	15	83379183	nonsense	probably null
X0027:Pacsin2	UTSW	15	83392602	missense	probably benign	0.06
Z1177:Pacsin2	UTSW	15	83402001	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGCATTTAGATACAGTGCCTG -3'
(R):5'- AAACAGACATGTGCAGGCTC -3'

Sequencing Primer
(F):5'- CATTTAGATACAGTGCCTGGGACAC -3'
(R):5'- TGTGCAGGCTCCAAAGAC -3'

Posted On

2016-02-04