Incidental Mutation 'R6831:Pacs1'
ID 537881
Institutional Source Beutler Lab
Gene Symbol Pacs1
Ensembl Gene ENSMUSG00000024855
Gene Name phosphofurin acidic cluster sorting protein 1
Synonyms
MMRRC Submission 044941-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6831 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 5183714-5323138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5210823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 151 (I151F)
Ref Sequence ENSEMBL: ENSMUSP00000025786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025786]
AlphaFold Q8K212
Predicted Effect probably damaging
Transcript: ENSMUST00000025786
AA Change: I151F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: I151F

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T G 10: 29,100,675 (GRCm39) D349E probably benign Het
Adam28 C T 14: 68,855,576 (GRCm39) A630T probably benign Het
Akr1cl C T 1: 65,053,831 (GRCm39) probably null Het
Alcam A G 16: 52,130,264 (GRCm39) Y29H probably benign Het
Alg3 A T 16: 20,427,497 (GRCm39) S25T probably damaging Het
Amdhd1 T G 10: 93,363,118 (GRCm39) L323F probably damaging Het
Apcdd1 C A 18: 63,083,197 (GRCm39) Y342* probably null Het
Aqp9 T A 9: 71,069,702 (GRCm39) probably benign Het
Arhgef5 A G 6: 43,257,933 (GRCm39) T1326A probably damaging Het
Cacna1a T C 8: 85,297,860 (GRCm39) V1238A probably damaging Het
Cep128 T C 12: 91,233,748 (GRCm39) D440G probably damaging Het
Dnah5 G C 15: 28,411,661 (GRCm39) G3677R possibly damaging Het
Dst T A 1: 34,229,765 (GRCm39) C2631S probably benign Het
E330034G19Rik T C 14: 24,346,163 (GRCm39) S25P probably benign Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fat3 C A 9: 16,287,847 (GRCm39) V559L probably damaging Het
Fra10ac1 A T 19: 38,195,737 (GRCm39) I162K probably benign Het
Glrx3 C T 7: 137,060,951 (GRCm39) T195M possibly damaging Het
Gm9949 T A 18: 62,313,616 (GRCm39) probably benign Het
Hbs1l T C 10: 21,217,767 (GRCm39) S228P probably benign Het
Hmcn1 G A 1: 150,646,044 (GRCm39) T718I probably benign Het
Igf1r T C 7: 67,857,067 (GRCm39) S1010P possibly damaging Het
Inpp5d T A 1: 87,629,198 (GRCm39) Y394* probably null Het
Itpr2 G A 6: 146,013,927 (GRCm39) T2623M probably damaging Het
Kif21b T A 1: 136,072,496 (GRCm39) C67* probably null Het
Lama1 T A 17: 68,063,749 (GRCm39) C758S possibly damaging Het
Mdga1 T A 17: 30,106,490 (GRCm39) K274* probably null Het
Neu2 G A 1: 87,524,455 (GRCm39) G147R probably damaging Het
Nkx1-1 A T 5: 33,591,147 (GRCm39) S58R unknown Het
Or2ag16 A T 7: 106,351,778 (GRCm39) N272K probably damaging Het
Or52e4 A G 7: 104,706,086 (GRCm39) D211G possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pamr1 C T 2: 102,445,276 (GRCm39) R270C probably damaging Het
Pclo C T 5: 14,838,443 (GRCm39) Q1417* probably null Het
Pkm G C 9: 59,582,398 (GRCm39) M409I probably benign Het
Plbd2 T A 5: 120,631,131 (GRCm39) K215N probably benign Het
Polk T C 13: 96,631,999 (GRCm39) K245E possibly damaging Het
Pramel17 T A 4: 101,694,094 (GRCm39) Q263L probably benign Het
Prl T G 13: 27,243,530 (GRCm39) I65S probably benign Het
Proser3 T C 7: 30,239,781 (GRCm39) H441R probably benign Het
Psmb3 A G 11: 97,597,728 (GRCm39) K98R probably benign Het
Ptpn20 T C 14: 33,354,882 (GRCm39) V319A probably damaging Het
Ptprj A T 2: 90,290,991 (GRCm39) Y397N probably damaging Het
Rp1 T C 1: 4,420,087 (GRCm39) probably null Het
Sgsm1 T A 5: 113,428,246 (GRCm39) Y314F probably damaging Het
Sh3pxd2a G A 19: 47,271,532 (GRCm39) R244C probably damaging Het
Sspo G A 6: 48,461,767 (GRCm39) V3466M possibly damaging Het
Syne2 T A 12: 76,013,568 (GRCm39) F2921I probably benign Het
Trank1 T A 9: 111,206,967 (GRCm39) M1700K probably benign Het
Trmt112 T A 19: 6,887,563 (GRCm39) L4H probably damaging Het
Trmu A G 15: 85,779,207 (GRCm39) T285A probably benign Het
Ttn A G 2: 76,601,846 (GRCm39) probably null Het
Vmn2r-ps158 G C 7: 42,673,004 (GRCm39) A143P probably damaging Het
Zc3hav1 A T 6: 38,309,103 (GRCm39) M573K probably benign Het
Zcchc8 T C 5: 123,838,972 (GRCm39) E522G probably damaging Het
Zfp354a T C 11: 50,961,381 (GRCm39) S529P probably damaging Het
Zfp735 G A 11: 73,601,434 (GRCm39) G126D probably damaging 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
R0316:Pacs1 UTSW 19 5,185,149 (GRCm39) splice site silent
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
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 PCR Primer
(F):5'- TCAAACTGGGTTCTGGCTG -3'
(R):5'- ACCTCGTAGCCAAATTGTGTTG -3'

Sequencing Primer
(F):5'- GCTGTTTTTGGAGAATAAAGTCCTC -3'
(R):5'- GGTCATTGTCTGGTACATCAAAGCC -3'
Posted On 2018-10-18