Mutagenetix > Incidental Mutation

Incidental Mutation 'R8089:Pacsin2'

629860

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

067522-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83259812-83348800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83263897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 380 (I380T)

Ref Sequence

ENSEMBL: ENSMUSP00000058320 (fasta)

Gene Model

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

AlphaFold

Q9WVE8

PDB Structure

Crystal structure of mouse pacsin2 F-BAR domain [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000056177
AA Change: I380T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058320
Gene: ENSMUSG00000016664
AA Change: I380T

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

probably benign
Transcript: ENSMUST00000165095
AA Change: I380T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130098
Gene: ENSMUSG00000016664
AA Change: I380T

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

probably benign
Transcript: ENSMUST00000171436
AA Change: I380T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131504
Gene: ENSMUSG00000016664
AA Change: I380T

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

probably benign
Transcript: ENSMUST00000230030

Predicted Effect

probably benign
Transcript: ENSMUST00000230679
AA Change: I380T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000231184
AA Change: I380T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000231946

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 94.7%

Validation Efficiency

93% (54/58)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,104,383 (GRCm39)	V768I	probably benign	Het
Abcc8	G	A	7: 45,757,780 (GRCm39)	T1323I	probably benign	Het
Adamtsl2	A	G	2: 26,994,809 (GRCm39)	M828V	probably benign	Het
Agmo	A	G	12: 37,397,306 (GRCm39)	D153G	probably benign	Het
Akap13	T	A	7: 75,260,340 (GRCm39)	V185D	possibly damaging	Het
Asic1	A	G	15: 99,595,968 (GRCm39)	N414D	probably damaging	Het
Bin1	T	A	18: 32,562,236 (GRCm39)		probably null	Het
Ccar1	C	A	10: 62,626,770 (GRCm39)	M1I	probably null	Het
Cdh26	T	A	2: 178,099,370 (GRCm39)		probably null	Het
Csmd3	C	T	15: 47,532,603 (GRCm39)	D1620N		Het
Dennd4a	A	T	9: 64,756,457 (GRCm39)	N204I	probably damaging	Het
Dgkb	G	A	12: 38,234,949 (GRCm39)	S438N	probably damaging	Het
Dmxl1	T	C	18: 50,021,897 (GRCm39)	M1604T	probably damaging	Het
Fhad1	T	A	4: 141,684,971 (GRCm39)	D456V	probably damaging	Het
Gcfc2	C	T	6: 81,902,771 (GRCm39)	T86M	probably damaging	Het
Idua	T	A	5: 108,829,646 (GRCm39)	M503K	probably damaging	Het
Ift70b	T	C	2: 75,767,647 (GRCm39)	T369A	possibly damaging	Het
Ighm	T	C	12: 113,384,854 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,740,750 (GRCm39)	S4676T	unknown	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lmtk2	G	A	5: 144,093,718 (GRCm39)	V232M	probably benign	Het
Map3k13	T	C	16: 21,722,567 (GRCm39)	V243A	possibly damaging	Het
Moxd1	A	G	10: 24,157,417 (GRCm39)	T350A	probably benign	Het
Nalcn	A	T	14: 123,537,372 (GRCm39)	W1175R	probably damaging	Het
Or10u4	A	T	10: 129,802,566 (GRCm39)	M1K	probably null	Het
Or5h27	T	G	16: 59,006,073 (GRCm39)	I258L	unknown	Het
Or8g26	T	A	9: 39,095,927 (GRCm39)	V148E	probably damaging	Het
Plcd1	A	C	9: 118,905,060 (GRCm39)	C214G	possibly damaging	Het
Poglut3	C	T	9: 53,307,262 (GRCm39)	A402V	probably benign	Het
Ptprm	C	A	17: 66,990,483 (GRCm39)	W1385L	possibly damaging	Het
Rab22a	C	T	2: 173,530,013 (GRCm39)	Q64*	probably null	Het
Rasa2	G	T	9: 96,435,177 (GRCm39)	H604Q	probably benign	Het
Rasal1	G	A	5: 120,809,643 (GRCm39)	G516D	probably damaging	Het
Rasgrp3	A	T	17: 75,804,056 (GRCm39)	I120L	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rgs12	T	C	5: 35,177,692 (GRCm39)	I742T	probably damaging	Het
Scyl3	A	G	1: 163,763,996 (GRCm39)	T121A	possibly damaging	Het
Six5	T	G	7: 18,828,797 (GRCm39)	F79C	probably damaging	Het
Tbx3	G	A	5: 119,818,634 (GRCm39)	R423H	probably damaging	Het
Terf2ip	C	T	8: 112,738,424 (GRCm39)	T104M	probably benign	Het
Tmem135	A	G	7: 88,805,703 (GRCm39)	C234R	probably damaging	Het
Tnxb	C	G	17: 34,891,763 (GRCm39)	A702G	unknown	Het
Tspan1	T	C	4: 116,021,532 (GRCm39)	K83R	probably null	Het
Ttn	C	T	2: 76,728,406 (GRCm39)		probably null	Het
Usp5	A	T	6: 124,797,373 (GRCm39)		probably null	Het
Vmn1r27	T	A	6: 58,192,194 (GRCm39)	Y270F	possibly damaging	Het
Vmn2r110	G	A	17: 20,803,807 (GRCm39)	T256I	probably benign	Het
Zfp831	T	A	2: 174,486,717 (GRCm39)	L464Q	possibly damaging	Het
Zscan4-ps3	C	A	7: 11,346,659 (GRCm39)	H232N	probably benign	Het

Other mutations in Pacsin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Pacsin2	APN	15	83,270,887 (GRCm39)	missense	probably damaging	1.00
IGL02574:Pacsin2	APN	15	83,272,864 (GRCm39)	missense	possibly damaging	0.81
R0153:Pacsin2	UTSW	15	83,261,862 (GRCm39)	missense	probably benign	0.11
R0399:Pacsin2	UTSW	15	83,270,983 (GRCm39)	missense	probably damaging	1.00
R0426:Pacsin2	UTSW	15	83,263,996 (GRCm39)	missense	possibly damaging	0.90
R0799:Pacsin2	UTSW	15	83,263,998 (GRCm39)	missense	probably benign	0.44
R0842:Pacsin2	UTSW	15	83,263,382 (GRCm39)	missense	probably damaging	0.99
R1591:Pacsin2	UTSW	15	83,269,252 (GRCm39)	missense	probably damaging	1.00
R2406:Pacsin2	UTSW	15	83,269,313 (GRCm39)	unclassified	probably benign
R3906:Pacsin2	UTSW	15	83,263,256 (GRCm39)	missense	probably damaging	1.00
R4686:Pacsin2	UTSW	15	83,265,976 (GRCm39)	missense	probably benign	0.01
R4815:Pacsin2	UTSW	15	83,269,260 (GRCm39)	missense	probably damaging	1.00
R5849:Pacsin2	UTSW	15	83,274,719 (GRCm39)	missense	possibly damaging	0.87
R6010:Pacsin2	UTSW	15	83,266,020 (GRCm39)	missense	possibly damaging	0.87
R6152:Pacsin2	UTSW	15	83,261,900 (GRCm39)	missense	probably damaging	1.00
R6367:Pacsin2	UTSW	15	83,266,033 (GRCm39)	missense	probably benign
R6457:Pacsin2	UTSW	15	83,263,879 (GRCm39)	splice site	probably null
R7158:Pacsin2	UTSW	15	83,263,943 (GRCm39)	missense	possibly damaging	0.50
R7220:Pacsin2	UTSW	15	83,269,260 (GRCm39)	missense	probably damaging	1.00
R8464:Pacsin2	UTSW	15	83,263,384 (GRCm39)	nonsense	probably null
X0027:Pacsin2	UTSW	15	83,276,803 (GRCm39)	missense	probably benign	0.06
Z1177:Pacsin2	UTSW	15	83,286,202 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGTGTTAGCTGTGCCCTC -3'
(R):5'- GAGCCGCTATAACCCTAGAGATAC -3'

Sequencing Primer
(F):5'- TTAGCTGTGCCCTCCCAGAG -3'
(R):5'- AGAGATACTGTCTTCCTCAGCAGG -3'

Posted On

2020-06-30