Mutagenetix > Incidental Mutation

Incidental Mutation 'R5732:Pacsin3'

501394

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

043347-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91086299-91095024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91090605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 18 (E18G)

Ref Sequence

ENSEMBL: ENSMUSP00000129175 (fasta)

Gene Model

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

AlphaFold

Q99JB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028694
AA Change: E18G

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

SMART Domains

Protein: ENSMUSP00000028694
Gene: ENSMUSG00000027257
AA Change: E18G

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: E18G

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

SMART Domains

Protein: ENSMUSP00000054391
Gene: ENSMUSG00000027257
AA Change: E18G

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: E18G

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

SMART Domains

Protein: ENSMUSP00000106981
Gene: ENSMUSG00000027257
AA Change: E18G

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 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 damaging
Transcript: ENSMUST00000138470
AA Change: E18G

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

SMART Domains

Protein: ENSMUSP00000117230
Gene: ENSMUSG00000027257
AA Change: E18G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000131711
AA Change: E18G

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

SMART Domains

Protein: ENSMUSP00000117214
Gene: ENSMUSG00000027257
AA Change: E18G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134699
AA Change: E18G

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

SMART Domains

Protein: ENSMUSP00000115046
Gene: ENSMUSG00000027257
AA Change: E18G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000144394
AA Change: E18G

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

SMART Domains

Protein: ENSMUSP00000121297
Gene: ENSMUSG00000027257
AA Change: E18G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000154959
AA Change: E18G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122769
Gene: ENSMUSG00000027257
AA Change: E18G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156919
AA Change: E18G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122779
Gene: ENSMUSG00000027257
AA Change: E18G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168916
AA Change: E18G

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

SMART Domains

Protein: ENSMUSP00000129175
Gene: ENSMUSG00000027257
AA Change: E18G

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: ENSMUST00000143883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180732

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141313

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.8%
20x: 94.5%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	A	9: 118,977,462 (GRCm39)	M407L	possibly damaging	Het
Acsf2	T	C	11: 94,460,768 (GRCm39)		probably benign	Het
Apob	A	G	12: 8,060,353 (GRCm39)	D2945G	probably benign	Het
Atg2a	T	C	19: 6,307,490 (GRCm39)	Y1475H	probably damaging	Het
Capn5	A	G	7: 97,778,593 (GRCm39)	L342P	possibly damaging	Het
Ccdc152	A	G	15: 3,321,860 (GRCm39)		probably null	Het
Ccdc7b	A	G	8: 129,799,195 (GRCm39)	M91V	possibly damaging	Het
Cd3g	T	C	9: 44,884,929 (GRCm39)	E105G	possibly damaging	Het
Cdadc1	A	G	14: 59,834,360 (GRCm39)	L44P	probably damaging	Het
Cdh23	A	G	10: 60,167,096 (GRCm39)	V1852A	possibly damaging	Het
Cdx2	T	C	5: 147,238,833 (GRCm39)	Q252R	possibly damaging	Het
Cps1	A	T	1: 67,196,923 (GRCm39)	I325F	probably benign	Het
Dctn1	G	A	6: 83,174,931 (GRCm39)		probably null	Het
Dcun1d3	T	C	7: 119,457,256 (GRCm39)	K152R	probably benign	Het
Dhx35	G	A	2: 158,673,705 (GRCm39)	V379M	probably damaging	Het
Fam171a2	T	C	11: 102,330,807 (GRCm39)	E224G	possibly damaging	Het
Flt1	G	T	5: 147,571,293 (GRCm39)	Y671*	probably null	Het
Fndc3b	T	C	3: 27,515,922 (GRCm39)	Y628C	probably damaging	Het
Foxj3	A	T	4: 119,443,008 (GRCm39)	D144V	probably damaging	Het
Gp2	A	G	7: 119,048,331 (GRCm39)	V429A	probably damaging	Het
Hydin	T	A	8: 111,178,690 (GRCm39)	I1095N	probably benign	Het
Kat2a	A	G	11: 100,599,066 (GRCm39)	F571S	probably damaging	Het
Kcnq1	C	A	7: 142,702,493 (GRCm39)		probably benign	Het
Letm2	A	C	8: 26,077,341 (GRCm39)	S250A	possibly damaging	Het
Llgl1	T	C	11: 60,600,286 (GRCm39)	V545A	probably benign	Het
Lrfn3	T	C	7: 30,059,031 (GRCm39)	D398G	probably benign	Het
Lrig1	G	T	6: 94,676,520 (GRCm39)	C49*	probably null	Het
Mug1	A	G	6: 121,855,452 (GRCm39)	I929V	probably benign	Het
Naaa	G	A	5: 92,411,314 (GRCm39)	T291I	probably damaging	Het
Ndufaf1	G	A	2: 119,490,521 (GRCm39)	Q180*	probably null	Het
Nr3c1	A	T	18: 39,548,752 (GRCm39)	H741Q	probably damaging	Het
Nsun5	T	C	5: 135,400,204 (GRCm39)	L109P	probably damaging	Het
Rpgr	G	A	X: 10,032,511 (GRCm39)	P857L	probably benign	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Slc35a4	A	T	18: 36,815,394 (GRCm39)	T75S	probably benign	Het
Slc52a2	T	C	15: 76,425,274 (GRCm39)	I434T	probably benign	Het
Slco2a1	C	T	9: 102,927,455 (GRCm39)	T116I	probably damaging	Het
Snrpd2	T	C	7: 18,886,538 (GRCm39)		probably null	Het
Tbc1d32	T	A	10: 55,964,489 (GRCm39)	L903F	probably damaging	Het
Tex10	G	T	4: 48,460,046 (GRCm39)	T435K	probably damaging	Het
Tmem266	T	C	9: 55,288,120 (GRCm39)	S66P	probably damaging	Het
Top2b	A	T	14: 16,400,106 (GRCm38)	E581D	possibly damaging	Het
Uggt1	A	T	1: 36,200,852 (GRCm39)		probably null	Het
Wdr47	T	A	3: 108,540,472 (GRCm39)	Y622*	probably null	Het
Zfp644	A	T	5: 106,784,989 (GRCm39)	H519Q	probably damaging	Het
Zfp687	T	C	3: 94,918,528 (GRCm39)	M415V	possibly 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
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'- CAAAGCTTTGGACTACTAGAAGGC -3'
(R):5'- CGTTCTTGGAAGCAGCTAACC -3'

Sequencing Primer
(F):5'- TGGACTACTAGAAGGCCTCTTC -3'
(R):5'- TTCTTGGAAGCAGCTAACCAGGTC -3'

Posted On

2017-12-01