Incidental Mutation 'IGL01152:Pacsin3'
ID 50657
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 # IGL01152
Quality Score
Status
Chromosome 2
Chromosomal Location 91086299-91095024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91094121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 350 (D350G)
Ref Sequence ENSEMBL: ENSMUSP00000129175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028691] [ENSMUST00000028694] [ENSMUST00000059566] [ENSMUST00000080008] [ENSMUST00000111349] [ENSMUST00000144394] [ENSMUST00000156919] [ENSMUST00000154959] [ENSMUST00000131711] [ENSMUST00000134699] [ENSMUST00000138470] [ENSMUST00000168916]
AlphaFold Q99JB8
Predicted Effect probably benign
Transcript: ENSMUST00000028691
SMART Domains Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255

DomainStartEndE-ValueType
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: D350G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028694
Gene: ENSMUSG00000027257
AA Change: D350G

DomainStartEndE-ValueType
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: D350G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054391
Gene: ENSMUSG00000027257
AA Change: D350G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: D350G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106981
Gene: ENSMUSG00000027257
AA Change: D350G

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000128684
AA Change: D74G
SMART Domains Protein: ENSMUSP00000118915
Gene: ENSMUSG00000027257
AA Change: D74G

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000150753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126754
Predicted Effect probably benign
Transcript: ENSMUST00000144394
SMART Domains Protein: ENSMUSP00000121297
Gene: ENSMUSG00000027257

DomainStartEndE-ValueType
FCH 14 95 4.88e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156919
SMART Domains Protein: ENSMUSP00000122779
Gene: ENSMUSG00000027257

DomainStartEndE-ValueType
FCH 14 102 2.05e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154959
SMART Domains Protein: ENSMUSP00000122769
Gene: ENSMUSG00000027257

DomainStartEndE-ValueType
Pfam:FCH 14 64 2.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131711
SMART Domains Protein: ENSMUSP00000117214
Gene: ENSMUSG00000027257

DomainStartEndE-ValueType
FCH 14 102 2.05e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134699
SMART Domains Protein: ENSMUSP00000115046
Gene: ENSMUSG00000027257

DomainStartEndE-ValueType
FCH 14 102 2.05e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138470
SMART Domains Protein: ENSMUSP00000117230
Gene: ENSMUSG00000027257

DomainStartEndE-ValueType
FCH 14 102 2.05e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168916
AA Change: D350G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129175
Gene: ENSMUSG00000027257
AA Change: D350G

DomainStartEndE-ValueType
FCH 14 102 2.05e-21 SMART
low complexity region 337 349 N/A INTRINSIC
SH3 366 423 1.03e-18 SMART
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik T G 1: 192,515,947 (GRCm39) noncoding transcript Het
Abcb4 G A 5: 9,000,678 (GRCm39) V1031M probably benign Het
Abcc4 A G 14: 118,836,797 (GRCm39) S655P probably damaging Het
Actn1 T C 12: 80,245,820 (GRCm39) K121R probably damaging Het
Aldh1l2 T A 10: 83,358,750 (GRCm39) R82* probably null Het
Arhgap31 T A 16: 38,422,601 (GRCm39) H1155L possibly damaging Het
Atp8a1 G T 5: 68,004,549 (GRCm39) P2Q probably damaging Het
Bcs1l A G 1: 74,631,174 (GRCm39) M401V possibly damaging Het
Brca2 A T 5: 150,465,855 (GRCm39) N1873I probably damaging Het
Cenpj T C 14: 56,789,757 (GRCm39) N764S probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Clk1 A T 1: 58,452,611 (GRCm39) C359S possibly damaging Het
Clk2 T A 3: 89,083,818 (GRCm39) F479I probably damaging Het
Cul4b T C X: 37,632,247 (GRCm39) M709V probably damaging Het
D130052B06Rik G T 11: 33,573,620 (GRCm39) probably null Het
Dgkb T A 12: 38,134,233 (GRCm39) N46K probably damaging Het
Dnah9 C T 11: 65,962,882 (GRCm39) R1811H probably damaging Het
Dnajc18 T C 18: 35,813,926 (GRCm39) N281S probably benign Het
Galnt5 A T 2: 57,915,405 (GRCm39) I654L probably benign Het
Gm9989 T G 3: 81,829,518 (GRCm39) noncoding transcript Het
Gpr179 T C 11: 97,228,237 (GRCm39) E1306G probably benign Het
Gsc C A 12: 104,437,864 (GRCm39) K219N probably damaging Het
Gsx2 A T 5: 75,236,452 (GRCm39) I11F probably damaging Het
Igdcc4 A C 9: 65,042,446 (GRCm39) E121A probably damaging Het
Lama2 C T 10: 27,084,425 (GRCm39) R915H probably benign Het
Large2 A G 2: 92,200,984 (GRCm39) L64P probably damaging Het
Lztr1 C A 16: 17,340,317 (GRCm39) Q136K probably damaging Het
Mageb18 A G X: 91,163,430 (GRCm39) W271R possibly damaging Het
Magoh A C 4: 107,742,203 (GRCm39) probably benign Het
Matcap2 A T 9: 22,346,460 (GRCm39) H356L probably benign Het
Mrgprx1 T C 7: 47,671,234 (GRCm39) H171R probably benign Het
Muc1 C A 3: 89,138,061 (GRCm39) T301K probably benign Het
Nbas C T 12: 13,410,959 (GRCm39) L868F probably damaging Het
Nwd2 A G 5: 63,963,872 (GRCm39) D1152G possibly damaging Het
Or5p68 C T 7: 107,946,156 (GRCm39) A11T probably benign Het
Or7d10 G A 9: 19,832,245 (GRCm39) V247M possibly damaging Het
Ovgp1 T A 3: 105,893,488 (GRCm39) D420E possibly damaging Het
Pcolce2 A T 9: 95,574,976 (GRCm39) N309Y probably damaging Het
Pim2 C A X: 7,744,661 (GRCm39) probably benign Het
Plcb1 A G 2: 134,655,579 (GRCm39) Y53C probably damaging Het
Pogk T C 1: 166,236,047 (GRCm39) E18G probably damaging Het
Pxdn T A 12: 30,051,936 (GRCm39) D704E probably damaging Het
Rb1 C A 14: 73,443,310 (GRCm39) S781I probably damaging Het
Rnpepl1 A G 1: 92,843,621 (GRCm39) H247R possibly damaging Het
Scube1 A T 15: 83,497,771 (GRCm39) F697I probably damaging Het
Sel1l3 G T 5: 53,273,675 (GRCm39) H1064N probably damaging Het
Serinc3 A G 2: 163,478,831 (GRCm39) Y99H probably damaging Het
Slc36a2 T A 11: 55,060,673 (GRCm39) probably benign Het
Smarcc1 A C 9: 109,968,693 (GRCm39) E130A possibly damaging Het
Strc A G 2: 121,201,276 (GRCm39) M1273T probably benign Het
Tmem116 A G 5: 121,601,862 (GRCm39) I21V probably benign Het
Tmem190 T C 7: 4,787,025 (GRCm39) probably benign Het
Trim63 C T 4: 134,052,987 (GRCm39) A316V probably benign Het
Ugt2b34 T C 5: 87,049,062 (GRCm39) E321G probably damaging Het
Zfat T A 15: 67,982,353 (GRCm39) R1053S probably damaging Het
Other mutations in Pacsin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-21