Incidental Mutation 'R0316:Pacs1'
ID 261861
Institutional Source Beutler Lab
Gene Symbol Pacs1
Ensembl Gene ENSMUSG00000024855
Gene Name phosphofurin acidic cluster sorting protein 1
Synonyms
MMRRC Submission 038526-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0316 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5183714-5323138 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 5185149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025786] [ENSMUST00000025786] [ENSMUST00000025786]
AlphaFold Q8K212
Predicted Effect silent
Transcript: ENSMUST00000025786
SMART Domains Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
low complexity region 27 46 N/A INTRINSIC
low complexity region 51 97 N/A INTRINSIC
low complexity region 276 290 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 359 372 N/A INTRINSIC
Pfam:Pacs-1 546 958 2e-193 PFAM
Predicted Effect silent
Transcript: ENSMUST00000025786
SMART Domains Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
low complexity region 27 46 N/A INTRINSIC
low complexity region 51 97 N/A INTRINSIC
low complexity region 276 290 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 359 372 N/A INTRINSIC
Pfam:Pacs-1 546 958 2e-193 PFAM
Predicted Effect silent
Transcript: ENSMUST00000025786
SMART Domains Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
low complexity region 27 46 N/A INTRINSIC
low complexity region 51 97 N/A INTRINSIC
low complexity region 276 290 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 359 372 N/A INTRINSIC
Pfam:Pacs-1 546 958 2e-193 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,888,765 (GRCm39) F276I probably damaging Het
Ado A G 10: 67,384,548 (GRCm39) L19P possibly damaging Het
Ago2 T C 15: 73,002,725 (GRCm39) H169R probably damaging Het
Asic1 G A 15: 99,569,819 (GRCm39) A47T probably benign Het
Atg16l2 A T 7: 100,942,603 (GRCm39) I364N probably damaging Het
C130050O18Rik G A 5: 139,400,313 (GRCm39) R122Q probably damaging Het
Capn7 T A 14: 31,069,766 (GRCm39) C197S probably benign Het
Casp16 T C 17: 23,771,066 (GRCm39) D113G probably damaging Het
Cdh18 T A 15: 23,366,999 (GRCm39) V235D probably damaging Het
Clca4a G T 3: 144,659,525 (GRCm39) T777K probably damaging Het
Col17a1 A G 19: 47,673,972 (GRCm39) probably null Het
Col5a3 C A 9: 20,686,621 (GRCm39) D1335Y unknown Het
Cpxm1 T C 2: 130,235,091 (GRCm39) E576G probably damaging Het
Dcbld2 T C 16: 58,253,808 (GRCm39) S182P probably damaging Het
Dclk1 C T 3: 55,410,313 (GRCm39) S616L probably damaging Het
Dll4 C A 2: 119,161,634 (GRCm39) D405E probably damaging Het
Dnah1 G A 14: 31,000,108 (GRCm39) R2462C probably benign Het
Dnah3 A T 7: 119,564,882 (GRCm39) Y2594N possibly damaging Het
Ess2 G A 16: 17,727,958 (GRCm39) P103S probably benign Het
Fam110a C A 2: 151,812,006 (GRCm39) A255S probably benign Het
Fbn2 G A 18: 58,246,397 (GRCm39) R502W probably damaging Het
Fgl2 A G 5: 21,580,521 (GRCm39) S288G possibly damaging Het
Gm1527 T C 3: 28,969,923 (GRCm39) S342P probably damaging Het
Gm19668 A T 10: 77,634,564 (GRCm39) probably benign Het
Gm5901 A T 7: 105,026,522 (GRCm39) T97S probably damaging Het
Greb1l A G 18: 10,547,420 (GRCm39) Y1546C probably damaging Het
Impg1 A T 9: 80,249,347 (GRCm39) S619T probably damaging Het
Itih2 C A 2: 10,110,057 (GRCm39) Q565H possibly damaging Het
Kbtbd6 T A 14: 79,690,464 (GRCm39) N386K probably benign Het
Lama3 T C 18: 12,652,934 (GRCm39) M218T probably benign Het
Lipg T C 18: 75,094,012 (GRCm39) S12G probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mex3d G T 10: 80,217,505 (GRCm39) P571T probably damaging Het
Neb A C 2: 52,085,482 (GRCm39) Y1538D possibly damaging Het
Nsd1 T C 13: 55,361,584 (GRCm39) I184T probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5b99 T A 19: 12,976,766 (GRCm39) C139S probably damaging Het
Or5w18 T C 2: 87,633,525 (GRCm39) F264S probably damaging Het
Pdcd11 T C 19: 47,101,611 (GRCm39) V932A probably damaging Het
Pkd2 A G 5: 104,625,032 (GRCm39) D276G probably damaging Het
Pkia T A 3: 7,502,499 (GRCm39) D25E probably damaging Het
Plxna2 A C 1: 194,326,458 (GRCm39) S131R probably damaging Het
Prelid1 T C 13: 55,472,220 (GRCm39) V132A possibly damaging Het
Psma3 T C 12: 71,030,163 (GRCm39) Y59H probably benign Het
Ptchd3 A C 11: 121,732,916 (GRCm39) E602A possibly damaging Het
Ptpro T C 6: 137,353,987 (GRCm39) V121A possibly damaging Het
Ptprt A G 2: 161,449,239 (GRCm39) L878P probably damaging Het
Pxn G A 5: 115,692,027 (GRCm39) G370S probably damaging Het
Rcn2 G T 9: 55,949,453 (GRCm39) A40S probably benign Het
Rnf215 A G 11: 4,089,760 (GRCm39) N258D probably damaging Het
Rnpc3 T C 3: 113,423,622 (GRCm39) T28A probably damaging Het
Rtel1 T A 2: 180,997,795 (GRCm39) V1100E possibly damaging Het
Scn3a T A 2: 65,291,173 (GRCm39) I1858F probably damaging Het
Slc9c1 G A 16: 45,400,595 (GRCm39) R735Q possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Spata13 A G 14: 60,929,788 (GRCm39) T449A probably benign Het
Svep1 A G 4: 58,072,737 (GRCm39) W2191R probably damaging Het
Thbs1 G A 2: 117,948,055 (GRCm39) R405H probably damaging Het
Tnn A G 1: 159,948,137 (GRCm39) Y859H possibly damaging Het
Tonsl A G 15: 76,513,500 (GRCm39) S1245P possibly damaging Het
Tpcn1 G A 5: 120,677,324 (GRCm39) T661M probably damaging Het
Trap1 A G 16: 3,863,424 (GRCm39) F533L probably benign Het
Ttc23 T C 7: 67,328,821 (GRCm39) probably null Het
Vax2 T C 6: 83,688,426 (GRCm39) S50P possibly damaging Het
Vmn1r5 A C 6: 56,962,784 (GRCm39) E153A probably benign Het
Vmn2r14 G T 5: 109,366,762 (GRCm39) P486Q probably benign Het
Vmn2r96 T A 17: 18,802,827 (GRCm39) F246I probably damaging Het
Zc3h10 C A 10: 128,380,624 (GRCm39) E244D probably damaging Het
Zdhhc18 T A 4: 133,340,966 (GRCm39) K265* probably null Het
Other mutations in Pacs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Pacs1 APN 19 5,203,726 (GRCm39) missense probably damaging 0.98
IGL01335:Pacs1 APN 19 5,192,660 (GRCm39) missense probably damaging 1.00
IGL01717:Pacs1 APN 19 5,218,000 (GRCm39) missense probably damaging 1.00
IGL02453:Pacs1 APN 19 5,185,033 (GRCm39) missense probably damaging 1.00
IGL02887:Pacs1 APN 19 5,185,138 (GRCm39) splice site probably benign
Batavian UTSW 19 5,206,441 (GRCm39) missense possibly damaging 0.71
chicory UTSW 19 5,189,325 (GRCm39) missense probably benign 0.33
endive UTSW 19 5,322,611 (GRCm39) nonsense probably null
Escarole UTSW 19 5,206,384 (GRCm39) critical splice donor site probably null
frisee UTSW 19 5,186,819 (GRCm39) missense probably damaging 1.00
R0240:Pacs1 UTSW 19 5,206,402 (GRCm39) missense possibly damaging 0.69
R0240:Pacs1 UTSW 19 5,206,402 (GRCm39) missense possibly damaging 0.69
R0369:Pacs1 UTSW 19 5,191,726 (GRCm39) missense probably damaging 1.00
R0443:Pacs1 UTSW 19 5,322,611 (GRCm39) nonsense probably null
R0973:Pacs1 UTSW 19 5,193,857 (GRCm39) missense probably damaging 1.00
R0973:Pacs1 UTSW 19 5,193,857 (GRCm39) missense probably damaging 1.00
R0974:Pacs1 UTSW 19 5,193,857 (GRCm39) missense probably damaging 1.00
R1202:Pacs1 UTSW 19 5,185,265 (GRCm39) missense probably damaging 1.00
R1672:Pacs1 UTSW 19 5,202,337 (GRCm39) missense probably benign 0.00
R1689:Pacs1 UTSW 19 5,322,643 (GRCm39) unclassified probably benign
R1842:Pacs1 UTSW 19 5,205,912 (GRCm39) missense probably damaging 0.96
R1847:Pacs1 UTSW 19 5,203,742 (GRCm39) missense probably damaging 0.99
R3884:Pacs1 UTSW 19 5,205,787 (GRCm39) missense probably damaging 0.99
R4577:Pacs1 UTSW 19 5,193,861 (GRCm39) nonsense probably null
R4630:Pacs1 UTSW 19 5,206,384 (GRCm39) critical splice donor site probably null
R5029:Pacs1 UTSW 19 5,192,299 (GRCm39) missense probably benign 0.03
R5198:Pacs1 UTSW 19 5,189,325 (GRCm39) missense probably benign 0.33
R5223:Pacs1 UTSW 19 5,195,169 (GRCm39) missense probably benign 0.00
R5464:Pacs1 UTSW 19 5,197,235 (GRCm39) missense probably benign
R5695:Pacs1 UTSW 19 5,186,819 (GRCm39) missense probably damaging 1.00
R6128:Pacs1 UTSW 19 5,202,400 (GRCm39) splice site probably null
R6335:Pacs1 UTSW 19 5,210,005 (GRCm39) missense probably damaging 1.00
R6802:Pacs1 UTSW 19 5,202,812 (GRCm39) missense probably damaging 0.99
R6831:Pacs1 UTSW 19 5,210,823 (GRCm39) missense probably damaging 1.00
R7071:Pacs1 UTSW 19 5,206,402 (GRCm39) missense possibly damaging 0.69
R7200:Pacs1 UTSW 19 5,206,441 (GRCm39) missense possibly damaging 0.71
R7248:Pacs1 UTSW 19 5,189,003 (GRCm39) missense probably damaging 1.00
R7576:Pacs1 UTSW 19 5,195,148 (GRCm39) missense probably benign 0.09
R7682:Pacs1 UTSW 19 5,202,727 (GRCm39) missense probably damaging 0.99
R7715:Pacs1 UTSW 19 5,191,709 (GRCm39) missense probably benign 0.01
R7738:Pacs1 UTSW 19 5,202,378 (GRCm39) missense probably benign 0.11
R8339:Pacs1 UTSW 19 5,192,651 (GRCm39) missense probably damaging 1.00
R8930:Pacs1 UTSW 19 5,185,030 (GRCm39) missense probably damaging 1.00
R8932:Pacs1 UTSW 19 5,185,030 (GRCm39) missense probably damaging 1.00
R9043:Pacs1 UTSW 19 5,188,964 (GRCm39) missense probably benign 0.23
R9211:Pacs1 UTSW 19 5,189,057 (GRCm39) missense probably damaging 0.99
R9459:Pacs1 UTSW 19 5,195,098 (GRCm39) critical splice donor site probably null
R9584:Pacs1 UTSW 19 5,322,622 (GRCm39) missense probably benign
R9608:Pacs1 UTSW 19 5,193,862 (GRCm39) missense probably damaging 1.00
R9732:Pacs1 UTSW 19 5,184,997 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-02-04