Mutagenetix > Incidental Mutation

Incidental Mutation 'R5721:Pacsin3'

451431

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

043189-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5721 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91086299-91095024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91094580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 402 (C402S)

Ref Sequence

ENSEMBL: ENSMUSP00000129175 (fasta)

Gene Model

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

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: C402S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028694
Gene: ENSMUSG00000027257
AA Change: C402S

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: C402S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054391
Gene: ENSMUSG00000027257
AA Change: C402S

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: C402S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106981
Gene: ENSMUSG00000027257
AA Change: C402S

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: C402S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129175
Gene: ENSMUSG00000027257
AA Change: C402S

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: ENSMUST00000150753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150701

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: 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: 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: ENSMUST00000156919

SMART Domains

Protein: ENSMUSP00000122779
Gene: ENSMUSG00000027257

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

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: ENSMUST00000131711

SMART Domains

Protein: ENSMUSP00000117214
Gene: ENSMUSG00000027257

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,844,798 (GRCm39)	V30D	probably damaging	Het
Atl3	T	A	19: 7,506,376 (GRCm39)	M302K	probably benign	Het
Ccdc91	C	G	6: 147,477,001 (GRCm39)	L230V	unknown	Het
Ciz1	C	T	2: 32,266,052 (GRCm39)	T39I	probably damaging	Het
Cog8	T	C	8: 107,776,780 (GRCm39)	T532A	probably benign	Het
Ctsr	C	T	13: 61,309,667 (GRCm39)	G181S	possibly damaging	Het
Drc7	T	C	8: 95,800,961 (GRCm39)		probably null	Het
Dvl2	A	G	11: 69,896,819 (GRCm39)	R238G	possibly damaging	Het
Faf1	T	C	4: 109,792,863 (GRCm39)	F612L	probably benign	Het
Fbxo40	T	A	16: 36,789,296 (GRCm39)	M605L	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gprc6a	A	T	10: 51,491,076 (GRCm39)	M716K	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Ift70a1	A	T	2: 75,811,715 (GRCm39)	Y123N	probably damaging	Het
Jcad	A	T	18: 4,676,044 (GRCm39)	T1269S	possibly damaging	Het
Kif23	C	G	9: 61,851,498 (GRCm39)	G66A	probably benign	Het
Lrrd1	T	C	5: 3,900,619 (GRCm39)	M308T	probably benign	Het
Lsg1	C	T	16: 30,380,593 (GRCm39)	A615T	probably benign	Het
Mcph1	G	A	8: 18,721,223 (GRCm39)	V684M	probably damaging	Het
Mpv17l	T	C	16: 13,764,658 (GRCm39)	Y62H	probably damaging	Het
Or10a5	T	C	7: 106,635,565 (GRCm39)	S68P	probably damaging	Het
Or13d1	G	T	4: 52,971,068 (GRCm39)	W149L	probably damaging	Het
Osgepl1	A	T	1: 53,360,359 (GRCm39)	M362L	possibly damaging	Het
P2ry14	T	C	3: 59,022,452 (GRCm39)		probably null	Het
Papss2	A	G	19: 32,638,064 (GRCm39)	Y392C	probably damaging	Het
Plekha8	T	A	6: 54,590,091 (GRCm39)	W19R	probably damaging	Het
Prdm15	A	T	16: 97,608,296 (GRCm39)	I667N	possibly damaging	Het
Rab11fip2	A	G	19: 59,924,042 (GRCm39)	S279P	probably damaging	Het
Slc6a20b	C	A	9: 123,441,054 (GRCm39)	G131C	probably null	Het
Suox	T	C	10: 128,507,162 (GRCm39)	I289V	possibly damaging	Het
Tbc1d16	C	T	11: 119,049,556 (GRCm39)		probably null	Het
Tmem269	T	C	4: 119,067,146 (GRCm39)	T146A	probably benign	Het
Ttn	G	A	2: 76,558,911 (GRCm39)	R29657W	probably damaging	Het
Vmn1r84	C	A	7: 12,096,153 (GRCm39)	C168F	probably damaging	Het
Zc3h7b	T	C	15: 81,657,499 (GRCm39)	F180L	probably benign	Het
Zfand4	C	G	6: 116,264,956 (GRCm39)	D140E	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
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

Predicted Primers

PCR Primer
(F):5'- AGAAAGCCAGGGACTCCATC -3'
(R):5'- TTCATGGGCCCTGAGACTTC -3'

Sequencing Primer
(F):5'- AGCTGCAGCCTGACAGTTG -3'
(R):5'- ACTTCCTCCTGTGGGAAAAG -3'

Posted On

2017-01-03