Mutagenetix > Incidental Mutation

Incidental Mutation 'R6541:Pacsin3'

520744

Institutional Source

Beutler Lab

Gene Symbol

Pacsin3

Ensembl Gene

ENSMUSG00000027257

Gene Name

protein kinase C and casein kinase substrate in neurons 3

Synonyms

6330413E15Rik, 4921507A02Rik

MMRRC Submission

044667-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91086299-91095024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91093129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 207 (E207G)

Ref Sequence

ENSEMBL: ENSMUSP00000129175 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000028694
AA Change: E207G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028694
Gene: ENSMUSG00000027257
AA Change: E207G

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 damaging
Transcript: ENSMUST00000059566
AA Change: E207G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054391
Gene: ENSMUSG00000027257
AA Change: E207G

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 damaging
Transcript: ENSMUST00000111349
AA Change: E207G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106981
Gene: ENSMUSG00000027257
AA Change: E207G

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: ENSMUST00000168916
AA Change: E207G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129175
Gene: ENSMUSG00000027257
AA Change: E207G

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: ENSMUST00000128296

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156919

SMART Domains

Protein: ENSMUSP00000122779
Gene: ENSMUSG00000027257

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150753

Predicted Effect

probably benign
Transcript: ENSMUST00000134699

SMART Domains

Protein: ENSMUSP00000115046
Gene: ENSMUSG00000027257

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138470

SMART Domains

Protein: ENSMUSP00000117230
Gene: ENSMUSG00000027257

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144394

SMART Domains

Protein: ENSMUSP00000121297
Gene: ENSMUSG00000027257

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154959

SMART Domains

Protein: ENSMUSP00000122769
Gene: ENSMUSG00000027257

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150701

Predicted Effect

probably benign
Transcript: ENSMUST00000131711

SMART Domains

Protein: ENSMUSP00000117214
Gene: ENSMUSG00000027257

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

Meta Mutation Damage Score

0.1751

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

97% (36/37)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ass1	T	C	2: 31,400,245 (GRCm39)	V321A	probably damaging	Het
BC028528	T	A	3: 95,795,530 (GRCm39)	M91L	probably benign	Het
Bicra	T	C	7: 15,713,054 (GRCm39)	T998A	probably benign	Het
Cdkl3	T	G	11: 51,913,571 (GRCm39)	L220R	probably damaging	Het
Cluh	A	G	11: 74,548,040 (GRCm39)	D117G	probably damaging	Het
Cplane1	T	C	15: 8,248,779 (GRCm39)	V1776A	possibly damaging	Het
Crygf	T	C	1: 65,967,224 (GRCm39)	F116S	probably damaging	Het
Ergic2	T	A	6: 148,084,648 (GRCm39)	Y20F	probably damaging	Het
Esf1	A	G	2: 140,009,799 (GRCm39)	V179A	probably benign	Het
Gm28360	T	C	1: 117,758,047 (GRCm39)		probably benign	Het
Hhatl	C	T	9: 121,614,210 (GRCm39)	V385I	probably damaging	Het
Iba57	A	T	11: 59,049,689 (GRCm39)	D219E	possibly damaging	Het
Il36b	T	A	2: 24,049,827 (GRCm39)	V146D	probably damaging	Het
Itgal	T	A	7: 126,910,734 (GRCm39)	V176E	probably damaging	Het
Kdm3a	T	C	6: 71,571,517 (GRCm39)	M1060V	possibly damaging	Het
Kif18b	T	C	11: 102,805,092 (GRCm39)	K351R	probably damaging	Het
Mroh9	A	G	1: 162,885,607 (GRCm39)	F342L	possibly damaging	Het
Ndufa11	T	A	17: 57,024,867 (GRCm39)	S10T	probably benign	Het
Or2bd2	A	T	7: 6,443,492 (GRCm39)	N198Y	probably benign	Het
Or5w19	T	C	2: 87,698,638 (GRCm39)	F101S	probably benign	Het
Or6b6	A	T	7: 106,571,410 (GRCm39)	F47Y	probably benign	Het
Or7h8	T	A	9: 20,123,695 (GRCm39)	F17I	probably benign	Het
Pcsk1	T	A	13: 75,274,103 (GRCm39)	L136Q	probably damaging	Het
Prr18	G	T	17: 8,560,168 (GRCm39)	R108L	possibly damaging	Het
Rdh5	A	G	10: 128,753,977 (GRCm39)	V44A	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sh2d4b	T	C	14: 40,542,748 (GRCm39)	T343A	probably benign	Het
Slc16a10	T	C	10: 39,913,268 (GRCm39)	N480S	probably benign	Het
Spaca7b	T	A	8: 11,712,613 (GRCm39)	Q79L	probably benign	Het
Sval3	A	T	6: 41,949,380 (GRCm39)	N73Y	probably damaging	Het
Taar7d	T	C	10: 23,904,129 (GRCm39)	I337T	probably benign	Het
Ttn	T	A	2: 76,577,039 (GRCm39)	Q24618L	possibly damaging	Het
Ugt1a9	T	A	1: 87,999,318 (GRCm39)	V256E	probably damaging	Het
Vmn2r108	T	A	17: 20,701,480 (GRCm39)	I7F	probably benign	Het
Vmn2r55	A	G	7: 12,404,939 (GRCm39)	S155P	probably damaging	Het
Vwa3b	T	A	1: 37,090,842 (GRCm39)	V169E	probably damaging	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
IGL03071:Pacsin3	APN	2	91,090,837 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- TAGATTGACCCTGTCTTGCAC -3'
(R):5'- CGTCATACTTGTCGCTACTGG -3'

Sequencing Primer
(F):5'- GCACTTCATCCAGATTCTTCTAGGTG -3'
(R):5'- CATACTTGTCGCTACTGGAGAGGTC -3'

Posted On

2018-06-06