Incidental Mutation 'R4630:Pacs1'
ID 349154
Institutional Source Beutler Lab
Gene Symbol Pacs1
Ensembl Gene ENSMUSG00000024855
Gene Name phosphofurin acidic cluster sorting protein 1
Synonyms
MMRRC Submission 041895-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4630 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 5183714-5323138 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 5206384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025786]
AlphaFold Q8K212
Predicted Effect probably null
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
Meta Mutation Damage Score 0.9593 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
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
3110070M22Rik A T 13: 119,624,622 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
BC024139 T G 15: 76,009,294 (GRCm39) Q240P probably benign Het
Bckdha A T 7: 25,330,884 (GRCm39) I44N probably damaging Het
Brpf1 T C 6: 113,286,867 (GRCm39) Y32H probably damaging Het
Catip A G 1: 74,408,072 (GRCm39) probably benign Het
Ccdc138 T C 10: 58,409,477 (GRCm39) L602P probably damaging Het
Cilp A T 9: 65,187,162 (GRCm39) T1086S probably benign Het
Comp A T 8: 70,827,032 (GRCm39) I58F possibly damaging Het
Crygs T C 16: 22,624,268 (GRCm39) E113G possibly damaging Het
Dnmt3b C T 2: 153,512,235 (GRCm39) R319* probably null Het
Eif3a A G 19: 60,758,366 (GRCm39) I804T unknown Het
Eif3a A T 19: 60,766,424 (GRCm39) H301Q probably benign Het
Elf3 A T 1: 135,184,478 (GRCm39) probably benign Het
Fads2b C A 2: 85,348,990 (GRCm39) G41* probably null Het
Gm10384 A G 15: 36,872,017 (GRCm39) noncoding transcript Het
Gm11627 T A 11: 102,469,657 (GRCm39) probably benign Het
Gpr183 A T 14: 122,192,261 (GRCm39) Y87N probably damaging Het
Gpr183 G C 14: 122,192,262 (GRCm39) Y86* probably null Het
Gpr26 T C 7: 131,568,709 (GRCm39) V18A probably damaging Het
Herc1 T A 9: 66,340,996 (GRCm39) probably null Het
Hint2 C T 4: 43,656,396 (GRCm39) probably benign Het
Jag1 A T 2: 136,927,899 (GRCm39) D837E probably damaging Het
Jmjd1c C A 10: 66,993,753 (GRCm39) S78* probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lalba T C 15: 98,380,549 (GRCm39) M2V probably benign Het
Lama1 T A 17: 68,101,295 (GRCm39) D1929E probably benign Het
Macf1 T C 4: 123,367,432 (GRCm39) K878R possibly damaging Het
Mboat4 T C 8: 34,591,108 (GRCm39) S182P probably damaging Het
Muc5b A T 7: 141,411,721 (GRCm39) T1556S unknown Het
Myo1g T C 11: 6,469,047 (GRCm39) Y85C probably damaging Het
Ncapd2 C A 6: 125,156,196 (GRCm39) probably null Het
Nox3 T C 17: 3,744,257 (GRCm39) D96G possibly damaging Het
Or10a48 T C 7: 108,424,802 (GRCm39) M135V probably damaging Het
Or1e17 T C 11: 73,831,822 (GRCm39) L250P probably damaging Het
Or6c212 A G 10: 129,559,350 (GRCm39) L21P probably damaging Het
Pgap4 C G 4: 49,586,254 (GRCm39) V305L probably benign Het
Pgm5 C A 19: 24,812,110 (GRCm39) G141* probably null Het
Pik3r4 A G 9: 105,532,098 (GRCm39) M557V probably benign Het
Pld4 T A 12: 112,731,498 (GRCm39) V217D probably damaging Het
Pphln1-ps1 T C 16: 13,495,278 (GRCm39) S126P probably damaging Het
Ppp1r3c T C 19: 36,710,915 (GRCm39) E285G probably benign Het
Pradc1 T A 6: 85,424,275 (GRCm39) M24L possibly damaging Het
Prepl T C 17: 85,390,659 (GRCm39) T100A probably benign Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Rtkn A T 6: 83,129,163 (GRCm39) K540* probably null Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Setd4 A G 16: 93,388,114 (GRCm39) L124P probably benign Het
Sh3gl2 A G 4: 85,297,646 (GRCm39) D208G probably damaging Het
Sult4a1 T C 15: 83,989,779 (GRCm39) T8A possibly damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Tlr4 A G 4: 66,757,477 (GRCm39) E90G probably benign Het
Tmem123 T C 9: 7,791,393 (GRCm39) L164P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Trp53bp1 G T 2: 121,038,368 (GRCm39) A1490D probably damaging Het
Ttc16 T C 2: 32,665,389 (GRCm39) probably benign Het
Tyw5 T A 1: 57,427,686 (GRCm39) Q306L probably damaging Het
Ube2j2 T A 4: 156,039,715 (GRCm39) I14N probably damaging Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Zar1 A G 5: 72,738,249 (GRCm39) V51A probably benign Het
Zbtb38 T G 9: 96,570,904 (GRCm39) N60T probably damaging Het
Zfp354a T C 11: 50,961,045 (GRCm39) S417P probably damaging Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp518a C T 19: 40,901,423 (GRCm39) Q451* probably null Het
Zfp64 T C 2: 168,768,463 (GRCm39) N383S possibly damaging Het
Zfp687 A T 3: 94,919,799 (GRCm39) 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
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
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 PCR Primer
(F):5'- TCAATGAGTGAACTGGCTCCC -3'
(R):5'- CCTATCACTGGGTAAGCTGTTTG -3'

Sequencing Primer
(F):5'- AGTGAACTGGCTCCCCTGTC -3'
(R):5'- GTGCTGTATTCTTTGTTCACAGG -3'
Posted On 2015-10-08