Mutagenetix > Incidental Mutation

Incidental Mutation 'R3927:Pacsin3'

308312

Institutional Source

Beutler Lab

Gene Symbol

Pacsin3

Ensembl Gene

ENSMUSG00000027257

Gene Name

protein kinase C and casein kinase substrate in neurons 3

Synonyms

MMRRC Submission

040822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91255954-91264679 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 91262941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129175 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000028694
Gene: ENSMUSG00000027257

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 null
Transcript: ENSMUST00000059566

SMART Domains

Protein: ENSMUSP00000054391
Gene: ENSMUSG00000027257

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 null
Transcript: ENSMUST00000111349

SMART Domains

Protein: ENSMUSP00000106981
Gene: ENSMUSG00000027257

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

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000141313

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

noncoding transcript
Transcript: ENSMUST00000150701

Predicted Effect

probably null
Transcript: ENSMUST00000168916

SMART Domains

Protein: ENSMUSP00000129175
Gene: ENSMUSG00000027257

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

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: ENSMUST00000154959

SMART Domains

Protein: ENSMUSP00000122769
Gene: ENSMUSG00000027257

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

95% (40/42)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	G	2: 103,708,218		probably null	Het
Alpk1	T	C	3: 127,677,716	H1039R	probably damaging	Het
Avpr1a	A	G	10: 122,449,711	S303G	probably benign	Het
Axdnd1	A	G	1: 156,419,270	L79S	probably damaging	Het
Baz1a	A	G	12: 54,921,143	I667T	possibly damaging	Het
Bend5	A	G	4: 111,448,605	Y282C	possibly damaging	Het
Clstn3	T	C	6: 124,451,368	D438G	probably damaging	Het
Cog3	A	G	14: 75,743,558		probably benign	Het
Cyp2j6	T	C	4: 96,553,288	N55S	probably benign	Het
Eif4b	G	A	15: 102,084,310	G101R	probably damaging	Het
Epha2	T	C	4: 141,306,550	L40P	probably damaging	Het
Fig4	A	G	10: 41,263,139	V356A	probably benign	Het
Hal	T	C	10: 93,514,026		probably benign	Het
Helz	A	G	11: 107,685,292	Y1770C	unknown	Het
Meis3	A	G	7: 16,177,494	T39A	probably benign	Het
Nod1	G	T	6: 54,944,917	R139S	probably benign	Het
Olfr430	A	T	1: 174,069,312	N5Y	probably damaging	Het
Plekhh1	T	A	12: 79,053,648	I130N	probably damaging	Het
Plxna2	G	A	1: 194,746,157	E512K	probably benign	Het
Ppp1r9a	A	G	6: 5,057,531	I215M	probably damaging	Het
Ryr3	C	G	2: 112,675,873	R3443P	probably damaging	Het
Sap130	A	T	18: 31,674,382	H414L	possibly damaging	Het
Slc33a1	A	G	3: 63,963,724	I156T	probably benign	Het
Slc37a2	G	A	9: 37,235,507	T338M	probably damaging	Het
Spinkl	T	A	18: 44,169,163		probably null	Het
Tmc5	T	A	7: 118,652,655	L657*	probably null	Het
Tmem217	A	G	17: 29,526,703	S18P	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,582,989		probably benign	Het
Tubb4a	A	G	17: 57,080,967	V353A	probably benign	Het
Ube3b	T	C	5: 114,415,680	F974L	probably benign	Het
Ubqln5	A	G	7: 104,128,471	L382P	probably damaging	Het
Ufsp2	T	A	8: 45,983,686		probably null	Het
Unkl	C	T	17: 25,229,329	T66I	probably damaging	Het
Xrn2	T	A	2: 147,038,189	N477K	probably benign	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zzef1	T	C	11: 72,858,382	S899P	probably damaging	Het
Zzz3	T	C	3: 152,455,862	Y298H	probably damaging	Het

Other mutations in Pacsin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Pacsin3	APN	2	91263776	missense	probably benign
IGL03071:Pacsin3	APN	2	91260492	missense	probably damaging	0.99
IGL03149:Pacsin3	APN	2	91261507	splice site	probably benign
pacifica	UTSW	2	91262941	splice site	probably null
R1179:Pacsin3	UTSW	2	91263860	missense	probably damaging	1.00
R1765:Pacsin3	UTSW	2	91263115	missense	possibly damaging	0.94
R4472:Pacsin3	UTSW	2	91262943	splice site	probably null
R5699:Pacsin3	UTSW	2	91262781	missense	probably damaging	1.00
R5721:Pacsin3	UTSW	2	91264235	missense	probably damaging	1.00
R5732:Pacsin3	UTSW	2	91260260	missense	probably damaging	1.00
R6213:Pacsin3	UTSW	2	91260434	missense	probably damaging	1.00
R6449:Pacsin3	UTSW	2	91260169	critical splice acceptor site	probably null
R6541:Pacsin3	UTSW	2	91262784	missense	probably damaging	1.00
R6834:Pacsin3	UTSW	2	91262835	missense	probably damaging	1.00
R8513:Pacsin3	UTSW	2	91262805	missense	probably benign	0.00
R9060:Pacsin3	UTSW	2	91261212	missense	probably benign	0.00
R9772:Pacsin3	UTSW	2	91262793	missense	probably damaging	1.00
R9792:Pacsin3	UTSW	2	91263815	missense	probably benign
R9793:Pacsin3	UTSW	2	91263815	missense	probably benign
R9795:Pacsin3	UTSW	2	91263815	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGGCAGTCTGTCCTCACTG -3'
(R):5'- CAGCGCAGATCCTCTTCATC -3'

Sequencing Primer
(F):5'- TTCTCTCTCACCCAGATGAAAAC -3'
(R):5'- TCACTGGCAGCCTCAATG -3'

Posted On

2015-04-17