Incidental Mutation 'R7276:Papss1'
ID 565564
Institutional Source Beutler Lab
Gene Symbol Papss1
Ensembl Gene ENSMUSG00000028032
Gene Name 3'-phosphoadenosine 5'-phosphosulfate synthase 1
Synonyms Asapk, SK1
MMRRC Submission 045359-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # R7276 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 131270626-131349432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131324995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 484 (E484G)
Ref Sequence ENSEMBL: ENSMUSP00000029666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029666] [ENSMUST00000197402] [ENSMUST00000199878] [ENSMUST00000200527]
AlphaFold Q60967
Predicted Effect probably benign
Transcript: ENSMUST00000029666
AA Change: E484G

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029666
Gene: ENSMUSG00000028032
AA Change: E484G

DomainStartEndE-ValueType
Pfam:APS_kinase 51 209 5.6e-78 PFAM
Pfam:AAA_17 54 184 1.7e-7 PFAM
Pfam:AAA_33 55 182 4.4e-9 PFAM
Pfam:PUA_2 225 386 3.3e-51 PFAM
Pfam:ATP-sulfurylase 394 617 7.8e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197402
Predicted Effect probably benign
Transcript: ENSMUST00000199878
AA Change: E463G

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142533
Gene: ENSMUSG00000028032
AA Change: E463G

DomainStartEndE-ValueType
Pfam:APS_kinase 30 188 4.5e-75 PFAM
Pfam:AAA_33 33 169 8.5e-10 PFAM
Pfam:AAA_17 33 180 6.1e-6 PFAM
Pfam:PUA_2 204 365 2.7e-47 PFAM
Pfam:ATP-sulfurylase 372 597 6.6e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200527
AA Change: E463G

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142616
Gene: ENSMUSG00000028032
AA Change: E463G

DomainStartEndE-ValueType
Pfam:APS_kinase 30 188 4.5e-75 PFAM
Pfam:AAA_33 33 169 8.5e-10 PFAM
Pfam:AAA_17 33 180 6.1e-6 PFAM
Pfam:PUA_2 204 365 2.7e-47 PFAM
Pfam:ATP-sulfurylase 372 597 6.6e-70 PFAM
Meta Mutation Damage Score 0.1253 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930455H04Rik T C 3: 116,762,227 (GRCm39) V26A unknown Het
4930546C10Rik C T 18: 69,083,093 (GRCm39) W40* probably null Het
Abcc5 T C 16: 20,195,258 (GRCm39) probably null Het
Adamts18 T A 8: 114,501,896 (GRCm39) M322L probably damaging Het
Ankrd44 T A 1: 54,774,239 (GRCm39) N406I probably benign Het
Arhgap35 T G 7: 16,298,493 (GRCm39) T191P probably damaging Het
Atg3 G A 16: 44,982,805 (GRCm39) E37K possibly damaging Het
Bbs1 A T 19: 4,947,738 (GRCm39) probably null Het
BC048562 A G 9: 108,322,435 (GRCm39) N60D probably damaging Het
Btnl9 T A 11: 49,066,617 (GRCm39) I335F probably benign Het
C7 A T 15: 5,041,449 (GRCm39) C486S probably damaging Het
Cchcr1 C A 17: 35,840,031 (GRCm39) Q634K possibly damaging Het
Cd93 A T 2: 148,283,660 (GRCm39) V562E probably damaging Het
Cemip2 A G 19: 21,812,824 (GRCm39) I1010V probably benign Het
Cript T A 17: 87,341,696 (GRCm39) Y50* probably null Het
Dnah14 T A 1: 181,513,372 (GRCm39) F1908L probably benign Het
Dnah5 A G 15: 28,367,984 (GRCm39) N2790D probably damaging Het
Eif3h C A 15: 51,728,717 (GRCm39) probably null Het
Ffar3 C G 7: 30,555,273 (GRCm39) V16L possibly damaging Het
Gcn1 C T 5: 115,749,119 (GRCm39) R1884W probably damaging Het
Gpatch1 T A 7: 34,996,921 (GRCm39) M426L probably benign Het
Hcn2 T A 10: 79,564,934 (GRCm39) Y449N possibly damaging Het
Hdac10 T C 15: 89,012,488 (GRCm39) T32A probably benign Het
Hykk T C 9: 54,853,502 (GRCm39) Y275H probably damaging Het
Igfn1 G C 1: 135,926,376 (GRCm39) P25A possibly damaging Het
Jph1 T C 1: 17,162,266 (GRCm39) Q132R probably damaging Het
Kat2b T A 17: 53,931,450 (GRCm39) D149E probably damaging Het
Knl1 A T 2: 118,902,167 (GRCm39) K1289N probably damaging Het
Lrrc37a G A 11: 103,347,572 (GRCm39) S3041L unknown Het
Mtrex A T 13: 113,050,973 (GRCm39) Y201N probably benign Het
Mtus2 C T 5: 148,013,368 (GRCm39) R54C probably benign Het
Myo1d A T 11: 80,583,898 (GRCm39) I38N probably damaging Het
Nasp A G 4: 116,471,546 (GRCm39) S94P probably damaging Het
Nfat5 C A 8: 108,093,731 (GRCm39) N657K probably benign Het
Ngfr A G 11: 95,465,170 (GRCm39) L226P probably benign Het
Nos1 T C 5: 118,048,303 (GRCm39) S703P probably damaging Het
Nsun7 A G 5: 66,434,484 (GRCm39) D275G probably benign Het
Oas1d A G 5: 121,054,944 (GRCm39) N172S possibly damaging Het
Or11h4 A G 14: 50,974,187 (GRCm39) V144A possibly damaging Het
Or2y17 T A 11: 49,231,821 (GRCm39) M154K probably benign Het
Or4c11b T A 2: 88,625,025 (GRCm39) F100I probably damaging Het
Or52e8 T A 7: 104,624,857 (GRCm39) M116L possibly damaging Het
Pcdh15 A G 10: 74,160,224 (GRCm39) D447G probably benign Het
Phkg2 A G 7: 127,181,558 (GRCm39) E247G possibly damaging Het
Pramel30 A G 4: 144,059,216 (GRCm39) E309G possibly damaging Het
Prelid2 T C 18: 42,045,487 (GRCm39) N141S possibly damaging Het
Psg18 T C 7: 18,079,909 (GRCm39) M431V probably damaging Het
Psmd12 A T 11: 107,394,471 (GRCm39) R397* probably null Het
Ralgds G A 2: 28,435,884 (GRCm39) R503Q probably damaging Het
Rb1cc1 G A 1: 6,319,416 (GRCm39) C945Y probably benign Het
Rgs12 A G 5: 35,183,715 (GRCm39) D1026G probably benign Het
Scn7a G A 2: 66,587,506 (GRCm39) P66S probably damaging Het
Supt16 T C 14: 52,414,458 (GRCm39) E448G probably benign Het
Syt16 C T 12: 74,313,483 (GRCm39) R470C probably damaging Het
Tas2r114 T C 6: 131,666,310 (GRCm39) I239M probably damaging Het
Tecpr1 C T 5: 144,153,838 (GRCm39) W138* probably null Het
Tex101 T C 7: 24,369,829 (GRCm39) N45S probably damaging Het
Tmx1 C A 12: 70,512,917 (GRCm39) T275K possibly damaging Het
Trappc8 T G 18: 20,951,148 (GRCm39) I1434L probably damaging Het
Trappc9 G T 15: 72,924,119 (GRCm39) H208N probably damaging Het
Trcg1 T A 9: 57,149,862 (GRCm39) L478Q probably damaging Het
Trim42 G T 9: 97,251,625 (GRCm39) Y91* probably null Het
Vmn2r114 A G 17: 23,509,934 (GRCm39) S849P probably damaging Het
Vmn2r120 T C 17: 57,831,881 (GRCm39) T303A probably benign Het
Vmn2r13 A G 5: 109,321,645 (GRCm39) W351R probably damaging Het
Vmn2r53 T C 7: 12,340,359 (GRCm39) D38G probably damaging Het
Vsig8 C A 1: 172,390,850 (GRCm39) C411* probably null Het
Vwce A T 19: 10,641,538 (GRCm39) T755S possibly damaging Het
Wwp1 T C 4: 19,611,782 (GRCm39) S897G probably damaging Het
Zfp111 C A 7: 23,898,978 (GRCm39) C212F probably damaging Het
Zfp385b G T 2: 77,280,624 (GRCm39) H193N probably damaging Het
Zfp811 T C 17: 33,017,755 (GRCm39) E95G probably benign Het
Other mutations in Papss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Papss1 APN 3 131,305,710 (GRCm39) missense probably benign 0.00
IGL01642:Papss1 APN 3 131,288,996 (GRCm39) splice site probably benign
IGL02249:Papss1 APN 3 131,307,772 (GRCm39) missense probably damaging 1.00
IGL02832:Papss1 APN 3 131,288,280 (GRCm39) missense probably damaging 1.00
IGL03008:Papss1 APN 3 131,290,860 (GRCm39) missense possibly damaging 0.55
IGL03180:Papss1 APN 3 131,313,143 (GRCm39) missense probably damaging 1.00
IGL03343:Papss1 APN 3 131,288,950 (GRCm39) missense probably benign 0.27
IGL03384:Papss1 APN 3 131,285,113 (GRCm39) missense probably damaging 0.96
R0549:Papss1 UTSW 3 131,324,974 (GRCm39) missense possibly damaging 0.87
R0685:Papss1 UTSW 3 131,288,854 (GRCm39) missense possibly damaging 0.61
R0800:Papss1 UTSW 3 131,305,615 (GRCm39) splice site probably benign
R1225:Papss1 UTSW 3 131,285,062 (GRCm39) splice site probably benign
R1458:Papss1 UTSW 3 131,311,615 (GRCm39) missense probably damaging 1.00
R1718:Papss1 UTSW 3 131,324,946 (GRCm39) missense probably damaging 1.00
R1728:Papss1 UTSW 3 131,311,728 (GRCm39) missense probably benign 0.00
R1784:Papss1 UTSW 3 131,311,728 (GRCm39) missense probably benign 0.00
R1862:Papss1 UTSW 3 131,288,945 (GRCm39) missense possibly damaging 0.93
R1937:Papss1 UTSW 3 131,305,632 (GRCm39) missense probably benign 0.38
R2349:Papss1 UTSW 3 131,305,627 (GRCm39) missense probably benign
R3859:Papss1 UTSW 3 131,313,096 (GRCm39) missense probably benign 0.30
R4698:Papss1 UTSW 3 131,313,092 (GRCm39) missense probably damaging 0.97
R4741:Papss1 UTSW 3 131,324,860 (GRCm39) missense probably damaging 1.00
R5333:Papss1 UTSW 3 131,348,805 (GRCm39) missense probably damaging 1.00
R5642:Papss1 UTSW 3 131,337,565 (GRCm39) nonsense probably null
R6658:Papss1 UTSW 3 131,311,696 (GRCm39) missense probably benign
R6932:Papss1 UTSW 3 131,305,732 (GRCm39) missense probably damaging 1.00
R7051:Papss1 UTSW 3 131,307,811 (GRCm39) missense probably damaging 1.00
R7199:Papss1 UTSW 3 131,290,899 (GRCm39) missense probably benign 0.01
R7201:Papss1 UTSW 3 131,305,687 (GRCm39) missense probably damaging 1.00
R7575:Papss1 UTSW 3 131,348,857 (GRCm39) missense probably damaging 0.99
R7627:Papss1 UTSW 3 131,290,873 (GRCm39) missense probably benign 0.01
R8325:Papss1 UTSW 3 131,288,372 (GRCm39) missense probably benign
R8380:Papss1 UTSW 3 131,337,456 (GRCm39) missense probably damaging 1.00
R9032:Papss1 UTSW 3 131,324,817 (GRCm39) missense probably damaging 0.99
R9085:Papss1 UTSW 3 131,324,817 (GRCm39) missense probably damaging 0.99
R9425:Papss1 UTSW 3 131,270,708 (GRCm39) nonsense probably null
R9469:Papss1 UTSW 3 131,288,959 (GRCm39) missense possibly damaging 0.62
Z1088:Papss1 UTSW 3 131,348,728 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- ATTTCAGTTGCGCAACCCAG -3'
(R):5'- CATTCCCAACACTAGGAGAAGGAG -3'

Sequencing Primer
(F):5'- ACCCAGTGCACAACGGG -3'
(R):5'- CCAACACTAGGAGAAGGAGAACTC -3'
Posted On 2019-06-26