Incidental Mutation 'IGL01343:Pacsin2'
ID 74957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pacsin2
Ensembl Gene ENSMUSG00000016664
Gene Name protein kinase C and casein kinase substrate in neurons 2
Synonyms Syndapin II
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01343
Quality Score
Status
Chromosome 15
Chromosomal Location 83259812-83348800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83270887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 254 (H254R)
Ref Sequence ENSEMBL: ENSMUSP00000155334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056177] [ENSMUST00000165095] [ENSMUST00000171436] [ENSMUST00000229337] [ENSMUST00000230679] [ENSMUST00000230816] [ENSMUST00000231184] [ENSMUST00000231946]
AlphaFold Q9WVE8
Predicted Effect probably damaging
Transcript: ENSMUST00000056177
AA Change: H254R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058320
Gene: ENSMUSG00000016664
AA Change: H254R

DomainStartEndE-ValueType
FCH 16 104 8.73e-25 SMART
low complexity region 146 162 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
SH3 429 486 2.04e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165095
AA Change: H254R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130098
Gene: ENSMUSG00000016664
AA Change: H254R

DomainStartEndE-ValueType
FCH 16 104 8.73e-25 SMART
low complexity region 146 162 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
SH3 429 486 2.04e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171436
AA Change: H254R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131504
Gene: ENSMUSG00000016664
AA Change: H254R

DomainStartEndE-ValueType
FCH 16 104 8.73e-25 SMART
low complexity region 146 162 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
SH3 429 486 2.04e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229337
Predicted Effect unknown
Transcript: ENSMUST00000230030
AA Change: H80R
Predicted Effect probably damaging
Transcript: ENSMUST00000230679
AA Change: H254R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000230816
Predicted Effect probably damaging
Transcript: ENSMUST00000231184
AA Change: H254R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231043
Predicted Effect probably benign
Transcript: ENSMUST00000231946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230960
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 by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,033,416 (GRCm39) probably benign Het
Adgrf1 T A 17: 43,624,086 (GRCm39) F835L probably null Het
Akp3 G T 1: 87,054,858 (GRCm39) probably benign Het
BC106179 G T 16: 23,043,037 (GRCm39) probably benign Het
Bysl C A 17: 47,912,814 (GRCm39) M325I probably benign Het
Cip2a A G 16: 48,833,551 (GRCm39) I551V probably damaging Het
Crnn A G 3: 93,055,633 (GRCm39) R140G probably benign Het
Cts8 T C 13: 61,397,010 (GRCm39) probably benign Het
Cxcr4 T C 1: 128,517,292 (GRCm39) Y121C probably damaging Het
Ddr2 T C 1: 169,812,150 (GRCm39) T691A probably benign Het
Dhx30 A T 9: 109,915,313 (GRCm39) F782I probably benign Het
Efcab5 C T 11: 77,020,756 (GRCm39) G655D probably damaging Het
Eif2ak4 G A 2: 118,252,570 (GRCm39) V381I probably benign Het
Enpp3 A T 10: 24,681,820 (GRCm39) Y295* probably null Het
Fbxo28 T C 1: 182,144,577 (GRCm39) E329G probably damaging Het
Fcgbpl1 A G 7: 27,850,127 (GRCm39) Q1191R probably benign Het
Fmnl2 T A 2: 53,013,557 (GRCm39) V972D probably damaging Het
Fmr1 A G X: 67,731,901 (GRCm39) D22G probably damaging Het
Fsip2 A G 2: 82,830,163 (GRCm39) T6886A possibly damaging Het
Gadl1 A G 9: 115,903,180 (GRCm39) *503W probably null Het
Gpc6 A T 14: 117,424,224 (GRCm39) K104I possibly damaging Het
Hecw2 T A 1: 53,866,135 (GRCm39) T1509S probably damaging Het
Lonp1 A G 17: 56,922,586 (GRCm39) L680P possibly damaging Het
Lrrc66 A T 5: 73,765,806 (GRCm39) N412K probably damaging Het
Marco C T 1: 120,422,469 (GRCm39) probably null Het
Mdga2 T C 12: 66,769,883 (GRCm39) T206A probably damaging Het
Mogat2 C A 7: 98,881,775 (GRCm39) A54S possibly damaging Het
Myh15 T A 16: 48,976,040 (GRCm39) D1369E probably benign Het
Nckap1 A T 2: 80,350,186 (GRCm39) S840T possibly damaging Het
Ncor1 C T 11: 62,216,312 (GRCm39) probably null Het
Nfrkb C A 9: 31,300,250 (GRCm39) L14I probably damaging Het
Notch1 C A 2: 26,362,917 (GRCm39) A950S probably benign Het
Notch3 T C 17: 32,362,410 (GRCm39) E1405G probably benign Het
Nsd2 C A 5: 34,000,922 (GRCm39) D146E probably damaging Het
Oc90 T C 15: 65,761,440 (GRCm39) T193A probably benign Het
Or7c70 A T 10: 78,683,431 (GRCm39) V106E probably damaging Het
Or8g50 C A 9: 39,649,011 (GRCm39) A300D probably damaging Het
Or8k40 T A 2: 86,584,843 (GRCm39) K80* probably null Het
Orc2 A T 1: 58,532,014 (GRCm39) probably null Het
Pif1 T A 9: 65,496,844 (GRCm39) M319K probably damaging Het
Prag1 G A 8: 36,570,200 (GRCm39) R261H possibly damaging Het
Ptprq G A 10: 107,474,700 (GRCm39) T1335I probably damaging Het
Ryr3 A G 2: 112,490,399 (GRCm39) Y3812H probably damaging Het
Sgo2b G A 8: 64,380,349 (GRCm39) Q828* probably null Het
Skint6 A G 4: 113,140,823 (GRCm39) V6A probably benign Het
Slc16a13 A G 11: 70,111,340 (GRCm39) I55T probably damaging Het
Slc22a3 A T 17: 12,644,516 (GRCm39) W490R probably damaging Het
Speer4b G T 5: 27,702,881 (GRCm39) H208N probably benign Het
Tas2r124 T C 6: 132,732,378 (GRCm39) L229S probably damaging Het
Tlr4 T C 4: 66,752,124 (GRCm39) probably benign Het
Tmed1 G T 9: 21,421,369 (GRCm39) T35K probably damaging Het
Tubgcp5 C A 7: 55,445,779 (GRCm39) probably benign Het
Ugt2b34 A G 5: 87,052,247 (GRCm39) S250P possibly damaging Het
Zfp516 A G 18: 83,011,221 (GRCm39) T1085A probably damaging Het
Znfx1 T C 2: 166,879,283 (GRCm39) I1698V probably benign Het
Zswim8 G T 14: 20,763,409 (GRCm39) W385C probably damaging Het
Other mutations in Pacsin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02574:Pacsin2 APN 15 83,272,864 (GRCm39) missense possibly damaging 0.81
R0153:Pacsin2 UTSW 15 83,261,862 (GRCm39) missense probably benign 0.11
R0399:Pacsin2 UTSW 15 83,270,983 (GRCm39) missense probably damaging 1.00
R0426:Pacsin2 UTSW 15 83,263,996 (GRCm39) missense possibly damaging 0.90
R0799:Pacsin2 UTSW 15 83,263,998 (GRCm39) missense probably benign 0.44
R0842:Pacsin2 UTSW 15 83,263,382 (GRCm39) missense probably damaging 0.99
R1591:Pacsin2 UTSW 15 83,269,252 (GRCm39) missense probably damaging 1.00
R2406:Pacsin2 UTSW 15 83,269,313 (GRCm39) unclassified probably benign
R3906:Pacsin2 UTSW 15 83,263,256 (GRCm39) missense probably damaging 1.00
R4686:Pacsin2 UTSW 15 83,265,976 (GRCm39) missense probably benign 0.01
R4815:Pacsin2 UTSW 15 83,269,260 (GRCm39) missense probably damaging 1.00
R5849:Pacsin2 UTSW 15 83,274,719 (GRCm39) missense possibly damaging 0.87
R6010:Pacsin2 UTSW 15 83,266,020 (GRCm39) missense possibly damaging 0.87
R6152:Pacsin2 UTSW 15 83,261,900 (GRCm39) missense probably damaging 1.00
R6367:Pacsin2 UTSW 15 83,266,033 (GRCm39) missense probably benign
R6457:Pacsin2 UTSW 15 83,263,879 (GRCm39) splice site probably null
R7158:Pacsin2 UTSW 15 83,263,943 (GRCm39) missense possibly damaging 0.50
R7220:Pacsin2 UTSW 15 83,269,260 (GRCm39) missense probably damaging 1.00
R8089:Pacsin2 UTSW 15 83,263,897 (GRCm39) missense probably benign
R8464:Pacsin2 UTSW 15 83,263,384 (GRCm39) nonsense probably null
X0027:Pacsin2 UTSW 15 83,276,803 (GRCm39) missense probably benign 0.06
Z1177:Pacsin2 UTSW 15 83,286,202 (GRCm39) critical splice acceptor site probably null
Posted On 2013-10-07