Incidental Mutation 'R0842:Pacsin2'
ID 77233
Institutional Source Beutler Lab
Gene Symbol Pacsin2
Ensembl Gene ENSMUSG00000016664
Gene Name protein kinase C and casein kinase substrate in neurons 2
Synonyms Syndapin II
MMRRC Submission 039021-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0842 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 83259812-83348800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83263382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 83 (E83G)
Ref Sequence ENSEMBL: ENSMUSP00000155925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056177] [ENSMUST00000165095] [ENSMUST00000171436] [ENSMUST00000230679] [ENSMUST00000231946] [ENSMUST00000231184]
AlphaFold Q9WVE8
Predicted Effect probably damaging
Transcript: ENSMUST00000056177
AA Change: E389G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058320
Gene: ENSMUSG00000016664
AA Change: E389G

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: E389G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130098
Gene: ENSMUSG00000016664
AA Change: E389G

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: E389G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131504
Gene: ENSMUSG00000016664
AA Change: E389G

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 unknown
Transcript: ENSMUST00000230030
AA Change: E174G
Predicted Effect probably damaging
Transcript: ENSMUST00000230679
AA Change: E389G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231043
Predicted Effect probably damaging
Transcript: ENSMUST00000231946
AA Change: E83G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000231184
AA Change: E389G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl8 C A 9: 21,746,972 (GRCm39) Y53* probably null Het
Apbb1ip G A 2: 22,757,678 (GRCm39) R432Q possibly damaging Het
Catsperb A T 12: 101,429,307 (GRCm39) Q160L probably damaging Het
Cdhr18 G A 14: 13,856,686 (GRCm38) S475L probably benign Het
Cilp2 T C 8: 70,335,768 (GRCm39) Y410C probably damaging Het
Cntnap5a G A 1: 116,369,953 (GRCm39) G857S probably damaging Het
D630045J12Rik A T 6: 38,125,400 (GRCm39) V1538E probably damaging Het
Dnah7a A G 1: 53,540,833 (GRCm39) S2514P possibly damaging Het
Eme1 C T 11: 94,541,700 (GRCm39) A41T probably benign Het
F11 T C 8: 45,705,196 (GRCm39) Y115C probably damaging Het
Fap A T 2: 62,367,345 (GRCm39) W313R probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Ggt6 T A 11: 72,328,088 (GRCm39) L158* probably null Het
Herc2 A C 7: 55,771,453 (GRCm39) I1072L probably benign Het
Hhat T C 1: 192,408,639 (GRCm39) N164S probably benign Het
Klrb1 A G 6: 128,687,008 (GRCm39) probably null Het
L3mbtl4 T A 17: 68,793,957 (GRCm39) D320E probably benign Het
Lyst C A 13: 13,852,826 (GRCm39) Y2275* probably null Het
Map4k3 T C 17: 80,913,412 (GRCm39) N611S probably benign Het
Morc3 T C 16: 93,670,284 (GRCm39) probably null Het
Mtr A C 13: 12,215,133 (GRCm39) Y864D probably damaging Het
Myh2 C T 11: 67,070,350 (GRCm39) A431V possibly damaging Het
Myo9a C A 9: 59,778,350 (GRCm39) Q1369K probably benign Het
Nalf1 T A 8: 9,820,114 (GRCm39) D302V probably benign Het
Nat3 T C 8: 68,000,649 (GRCm39) I176T probably benign Het
Ncapd3 C T 9: 26,948,380 (GRCm39) T54I probably benign Het
Nfyc C A 4: 120,616,574 (GRCm39) E281D probably benign Het
Nlrp14 A G 7: 106,782,342 (GRCm39) D513G probably benign Het
Plagl1 G T 10: 13,004,298 (GRCm39) probably benign Het
Pmpcb T C 5: 21,953,772 (GRCm39) L340P possibly damaging Het
Pou2af3 T C 9: 51,183,668 (GRCm39) E102G probably benign Het
Pou2f2 A T 7: 24,796,355 (GRCm39) L364Q probably damaging Het
Rab1b A T 19: 5,154,697 (GRCm39) I84N probably damaging Het
Ric3 T C 7: 108,638,087 (GRCm39) Y222C probably damaging Het
Samhd1 A G 2: 156,965,251 (GRCm39) V188A probably damaging Het
Socs4 T A 14: 47,527,426 (GRCm39) H107Q probably damaging Het
Tex15 T A 8: 34,061,575 (GRCm39) I335K possibly damaging Het
Thoc2l T A 5: 104,667,066 (GRCm39) N529K possibly damaging Het
Thop1 C A 10: 80,911,411 (GRCm39) T99K probably damaging Het
Tnik A G 3: 28,648,235 (GRCm39) E429G possibly damaging Het
Vmn2r106 T A 17: 20,488,465 (GRCm39) I645F probably damaging Het
Zscan29 T A 2: 120,991,960 (GRCm39) R609S possibly damaging Het
Other mutations in Pacsin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Pacsin2 APN 15 83,270,887 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACCAGCCTTGAAGCTCAGCTCATC -3'
(R):5'- GGCACAGCTAACACTCTTCAGTTGC -3'

Sequencing Primer
(F):5'- GAAGCTCAGCTCATCATGTTC -3'
(R):5'- GCGTGGGTACAGCTCTATC -3'
Posted On 2013-10-16