Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03071:Pacsin3'

417527

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pacsin3

Ensembl Gene

ENSMUSG00000027257

Gene Name

protein kinase C and casein kinase substrate in neurons 3

Synonyms

6330413E15Rik, 4921507A02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03071

Quality Score

Status

Chromosome

Chromosomal Location

91086299-91095024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91090837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 48 (R48H)

Ref Sequence

ENSEMBL: ENSMUSP00000117214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028691] [ENSMUST00000028694] [ENSMUST00000059566] [ENSMUST00000080008] [ENSMUST00000111349] [ENSMUST00000131711] [ENSMUST00000144394] [ENSMUST00000154959] [ENSMUST00000138470] [ENSMUST00000156919] [ENSMUST00000168916] [ENSMUST00000134699]

AlphaFold

Q99JB8

Predicted Effect

probably benign
Transcript: ENSMUST00000028691

SMART Domains

Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255

Domain	Start	End	E-Value	Type
ArfGap	11	125	1.46e-44	SMART
low complexity region	227	246	N/A	INTRINSIC
coiled coil region	254	321	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
Blast:ArfGap	370	434	6e-32	BLAST
low complexity region	468	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000028694
AA Change: R48H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000028694
Gene: ENSMUSG00000027257
AA Change: R48H

Domain	Start	End	E-Value	Type
FCH	14	102	2.05e-21	SMART
low complexity region	337	349	N/A	INTRINSIC
SH3	366	423	1.03e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000059566
AA Change: R48H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000054391
Gene: ENSMUSG00000027257
AA Change: R48H

Domain	Start	End	E-Value	Type
FCH	14	102	2.05e-21	SMART
low complexity region	337	349	N/A	INTRINSIC
SH3	366	423	1.03e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080008

SMART Domains

Protein: ENSMUSP00000078920
Gene: ENSMUSG00000027255

Domain	Start	End	E-Value	Type
ArfGap	11	125	1.46e-44	SMART
low complexity region	213	232	N/A	INTRINSIC
coiled coil region	240	307	N/A	INTRINSIC
low complexity region	309	321	N/A	INTRINSIC
internal_repeat_1	333	376	9.77e-5	PROSPERO
low complexity region	454	462	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111349
AA Change: R48H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106981
Gene: ENSMUSG00000027257
AA Change: R48H

Domain	Start	End	E-Value	Type
FCH	14	102	2.05e-21	SMART
low complexity region	337	349	N/A	INTRINSIC
SH3	366	423	1.03e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126754

Predicted Effect

probably damaging
Transcript: ENSMUST00000131711
AA Change: R48H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117214
Gene: ENSMUSG00000027257
AA Change: R48H

Domain	Start	End	E-Value	Type
FCH	14	102	2.05e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144394
AA Change: R48H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121297
Gene: ENSMUSG00000027257
AA Change: R48H

Domain	Start	End	E-Value	Type
FCH	14	95	4.88e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000154959
AA Change: R48H

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122769
Gene: ENSMUSG00000027257
AA Change: R48H

Domain	Start	End	E-Value	Type
Pfam:FCH	14	64	2.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138470
AA Change: R48H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000117230
Gene: ENSMUSG00000027257
AA Change: R48H

Domain	Start	End	E-Value	Type
FCH	14	102	2.05e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000156919
AA Change: R48H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122779
Gene: ENSMUSG00000027257
AA Change: R48H

Domain	Start	End	E-Value	Type
FCH	14	102	2.05e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168916
AA Change: R48H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129175
Gene: ENSMUSG00000027257
AA Change: R48H

Domain	Start	End	E-Value	Type
FCH	14	102	2.05e-21	SMART
low complexity region	337	349	N/A	INTRINSIC
SH3	366	423	1.03e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134699
AA Change: R48H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115046
Gene: ENSMUSG00000027257
AA Change: R48H

Domain	Start	End	E-Value	Type
FCH	14	102	2.05e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180732

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150701

Predicted Effect

probably benign
Transcript: ENSMUST00000128684

SMART Domains

Protein: ENSMUSP00000118915
Gene: ENSMUSG00000027257

Domain	Start	End	E-Value	Type
PDB:3SYV\|H	2	61	3e-37	PDB
low complexity region	62	74	N/A	INTRINSIC
SCOP:d1k4us_	86	112	6e-7	SMART
PDB:2X3X\|E	88	112	7e-7	PDB
Blast:SH3	91	112	1e-6	BLAST

Coding Region Coverage

Validation Efficiency

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	A	8: 41,278,104 (GRCm39)	L165H	probably benign	Het
Ahnak	T	C	19: 8,989,282 (GRCm39)	I3522T	possibly damaging	Het
Anks1	G	A	17: 28,227,173 (GRCm39)	A609T	probably benign	Het
Apaf1	T	C	10: 90,833,117 (GRCm39)	D1138G	possibly damaging	Het
Appl2	T	C	10: 83,476,970 (GRCm39)		probably null	Het
Arhgef19	A	T	4: 140,976,313 (GRCm39)	I385F	possibly damaging	Het
Cby3	A	G	11: 50,250,343 (GRCm39)	D183G	probably damaging	Het
Ccdc134	G	A	15: 82,018,826 (GRCm39)	V119M	possibly damaging	Het
Ccdc180	G	T	4: 45,903,840 (GRCm39)		probably benign	Het
Clec2d	T	C	6: 129,160,165 (GRCm39)	S60P	probably benign	Het
Cts6	A	T	13: 61,350,064 (GRCm39)	F6I	probably damaging	Het
Cyyr1	G	A	16: 85,262,449 (GRCm39)	H103Y	probably damaging	Het
Dop1a	T	A	9: 86,371,668 (GRCm39)	S120T	possibly damaging	Het
Dot1l	T	C	10: 80,624,513 (GRCm39)	S994P	probably benign	Het
Eya4	T	G	10: 23,198,971 (GRCm39)	D3A	probably benign	Het
Fhip2b	A	G	14: 70,823,649 (GRCm39)	C574R	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gria1	A	T	11: 56,902,936 (GRCm39)		probably null	Het
Hectd1	T	C	12: 51,815,957 (GRCm39)	T1377A	probably benign	Het
Magi3	T	G	3: 103,923,202 (GRCm39)	K1172Q	possibly damaging	Het
Map3k1	A	C	13: 111,892,059 (GRCm39)	D1065E	possibly damaging	Het
Mindy4b-ps	A	T	3: 58,717,158 (GRCm39)	V242D	probably damaging	Het
Mrgpra3	T	C	7: 47,238,929 (GRCm39)		probably benign	Het
Mroh9	C	A	1: 162,866,766 (GRCm39)	G657C	probably damaging	Het
Ogfod1	T	C	8: 94,784,395 (GRCm39)	W318R	probably damaging	Het
Or10j5	A	G	1: 172,784,502 (GRCm39)	T47A	probably benign	Het
Plcb1	A	G	2: 135,229,722 (GRCm39)	E1114G	probably damaging	Het
Prkdc	T	G	16: 15,617,848 (GRCm39)	D3226E	probably benign	Het
Prl4a1	A	T	13: 28,204,246 (GRCm39)	E96V	probably benign	Het
Robo4	T	C	9: 37,315,580 (GRCm39)		probably benign	Het
Scn7a	G	A	2: 66,530,291 (GRCm39)	L685F	possibly damaging	Het
Spata1	A	G	3: 146,181,089 (GRCm39)	Y290H	possibly damaging	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tifa	T	G	3: 127,590,728 (GRCm39)	Y166*	probably null	Het
Tnfsf10	G	A	3: 27,389,769 (GRCm39)	D277N	probably damaging	Het
Tram1	A	T	1: 13,649,998 (GRCm39)	Y75*	probably null	Het
Vmn1r60	T	A	7: 5,547,368 (GRCm39)	N244I	probably damaging	Het
Xpo4	A	G	14: 57,855,685 (GRCm39)	I248T	possibly damaging	Het
Zc2hc1a	A	G	3: 7,589,182 (GRCm39)		probably benign	Het
Zfp386	T	A	12: 116,022,760 (GRCm39)	H124Q	probably benign	Het

Other mutations in Pacsin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Pacsin3	APN	2	91,094,121 (GRCm39)	missense	probably benign
IGL03149:Pacsin3	APN	2	91,091,852 (GRCm39)	splice site	probably benign
pacifica	UTSW	2	91,093,286 (GRCm39)	splice site	probably null
R1179:Pacsin3	UTSW	2	91,094,205 (GRCm39)	missense	probably damaging	1.00
R1765:Pacsin3	UTSW	2	91,093,460 (GRCm39)	missense	possibly damaging	0.94
R3927:Pacsin3	UTSW	2	91,093,286 (GRCm39)	splice site	probably null
R4472:Pacsin3	UTSW	2	91,093,288 (GRCm39)	splice site	probably null
R5699:Pacsin3	UTSW	2	91,093,126 (GRCm39)	missense	probably damaging	1.00
R5721:Pacsin3	UTSW	2	91,094,580 (GRCm39)	missense	probably damaging	1.00
R5732:Pacsin3	UTSW	2	91,090,605 (GRCm39)	missense	probably damaging	1.00
R6213:Pacsin3	UTSW	2	91,090,779 (GRCm39)	missense	probably damaging	1.00
R6449:Pacsin3	UTSW	2	91,090,514 (GRCm39)	critical splice acceptor site	probably null
R6541:Pacsin3	UTSW	2	91,093,129 (GRCm39)	missense	probably damaging	1.00
R6834:Pacsin3	UTSW	2	91,093,180 (GRCm39)	missense	probably damaging	1.00
R8513:Pacsin3	UTSW	2	91,093,150 (GRCm39)	missense	probably benign	0.00
R9060:Pacsin3	UTSW	2	91,091,557 (GRCm39)	missense	probably benign	0.00
R9772:Pacsin3	UTSW	2	91,093,138 (GRCm39)	missense	probably damaging	1.00
R9792:Pacsin3	UTSW	2	91,094,160 (GRCm39)	missense	probably benign
R9793:Pacsin3	UTSW	2	91,094,160 (GRCm39)	missense	probably benign
R9795:Pacsin3	UTSW	2	91,094,160 (GRCm39)	missense	probably benign

Posted On

2016-08-02