Incidental Mutation 'R7199:Papss1'
ID 560145
Institutional Source Beutler Lab
Gene Symbol Papss1
Ensembl Gene ENSMUSG00000028032
Gene Name 3'-phosphoadenosine 5'-phosphosulfate synthase 1
Synonyms Asapk, SK1
MMRRC Submission 045277-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # R7199 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 131270626-131349432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131290899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 214 (Q214R)
Ref Sequence ENSEMBL: ENSMUSP00000029666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029666] [ENSMUST00000196638] [ENSMUST00000197402] [ENSMUST00000199878] [ENSMUST00000200527]
AlphaFold Q60967
Predicted Effect probably benign
Transcript: ENSMUST00000029666
AA Change: Q214R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000029666
Gene: ENSMUSG00000028032
AA Change: Q214R

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: ENSMUST00000196638
Predicted Effect probably benign
Transcript: ENSMUST00000197402
Predicted Effect probably benign
Transcript: ENSMUST00000199878
AA Change: Q193R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000142533
Gene: ENSMUSG00000028032
AA Change: Q193R

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: Q193R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000142616
Gene: ENSMUSG00000028032
AA Change: Q193R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A G 16: 88,555,902 (GRCm39) T39A probably damaging Het
Abca3 G A 17: 24,596,681 (GRCm39) G378D probably damaging Het
Abtb2 T C 2: 103,397,565 (GRCm39) V165A possibly damaging Het
Ache A G 5: 137,288,504 (GRCm39) E70G probably damaging Het
Adamtsl4 T C 3: 95,588,119 (GRCm39) T623A probably benign Het
Ahdc1 G A 4: 132,791,935 (GRCm39) V1059I probably benign Het
Ajuba G A 14: 54,810,915 (GRCm39) Q357* probably null Het
Ano7 A T 1: 93,330,700 (GRCm39) D54V Het
Apob A T 12: 8,055,072 (GRCm39) D1357V probably damaging Het
Atad2b T A 12: 5,067,992 (GRCm39) Y997N probably damaging Het
Bhlhe22 C A 3: 18,110,006 (GRCm39) T352K probably damaging Het
Bsn T C 9: 107,992,533 (GRCm39) E1073G probably damaging Het
Bzw2 G A 12: 36,180,054 (GRCm39) R58* probably null Het
C7 G T 15: 5,023,725 (GRCm39) S694R probably benign Het
Cbr2 T A 11: 120,621,087 (GRCm39) H170L probably benign Het
Cdcp3 G A 7: 130,837,641 (GRCm39) W512* probably null Het
Cgas C A 9: 78,340,315 (GRCm39) K472N probably benign Het
Ckap2l T C 2: 129,126,975 (GRCm39) N401S probably benign Het
Cldn1 A G 16: 26,190,346 (GRCm39) F11L probably benign Het
Cmtr1 A G 17: 29,895,174 (GRCm39) T118A probably benign Het
Cog6 T C 3: 52,890,610 (GRCm39) E610G probably benign Het
Col3a1 G T 1: 45,371,301 (GRCm39) A451S probably null Het
Cr1l T A 1: 194,799,878 (GRCm39) R265S probably benign Het
Dapk1 T C 13: 60,902,024 (GRCm39) I951T probably benign Het
Dnah9 T C 11: 66,009,770 (GRCm39) N706D probably benign Het
Dpysl5 A T 5: 30,940,539 (GRCm39) T239S probably benign Het
Ect2l T A 10: 18,004,894 (GRCm39) Y913F probably benign Het
Elf5 C A 2: 103,269,641 (GRCm39) A74D possibly damaging Het
Erap1 T C 13: 74,814,258 (GRCm39) V399A probably benign Het
Ercc4 A G 16: 12,965,657 (GRCm39) D763G probably damaging Het
Fam222b T A 11: 78,045,683 (GRCm39) C415S possibly damaging Het
Fat4 A C 3: 39,031,511 (GRCm39) N2432T probably damaging Het
Fbn2 G T 18: 58,186,833 (GRCm39) C1689* probably null Het
Frrs1l T A 4: 56,972,282 (GRCm39) T140S probably damaging Het
Gm5141 A T 13: 62,924,877 (GRCm39) H10Q possibly damaging Het
Inafm1 A T 7: 16,007,079 (GRCm39) L46Q probably damaging Het
Irak2 T C 6: 113,650,045 (GRCm39) L260P probably damaging Het
Kat2b T C 17: 53,977,706 (GRCm39) L751P probably damaging Het
Kcnh1 T A 1: 192,019,913 (GRCm39) I413N probably benign Het
Kirrel1 T C 3: 86,990,695 (GRCm39) D709G probably benign Het
Lama4 T C 10: 38,956,536 (GRCm39) V1153A possibly damaging Het
Lipg A T 18: 75,088,655 (GRCm39) F98L probably benign Het
Lman1 T C 18: 66,127,936 (GRCm39) E236G probably damaging Het
Lrp1 T A 10: 127,409,325 (GRCm39) D1598V probably damaging Het
Lrrc71 T A 3: 87,650,384 (GRCm39) N230Y probably damaging Het
Maneal T C 4: 124,750,983 (GRCm39) S258G possibly damaging Het
Marchf10 T A 11: 105,281,532 (GRCm39) E251V probably damaging Het
Mpdz A G 4: 81,215,570 (GRCm39) I1484T probably damaging Het
Mtcl1 T A 17: 66,647,534 (GRCm39) N1882I probably benign Het
Neb G A 2: 52,110,212 (GRCm39) A212V probably benign Het
Obscn G A 11: 58,903,672 (GRCm39) S7434L probably benign Het
Or14j8 A C 17: 38,263,048 (GRCm39) I289S probably damaging Het
Or1ad8 T A 11: 50,898,223 (GRCm39) C141* probably null Het
Or1j12 A T 2: 36,342,872 (GRCm39) I92F probably damaging Het
Or4k47 T C 2: 111,451,538 (GRCm39) M294V probably benign Het
Or8g2b A G 9: 39,750,753 (GRCm39) M8V probably benign Het
Orc6 T C 8: 86,029,590 (GRCm39) probably null Het
Otogl T G 10: 107,710,394 (GRCm39) E565A possibly damaging Het
Pck2 G A 14: 55,786,169 (GRCm39) V653M probably benign Het
Plxna4 G A 6: 32,192,113 (GRCm39) Q826* probably null Het
Pms1 T A 1: 53,295,889 (GRCm39) T161S probably benign Het
Prkar2a C A 9: 108,617,669 (GRCm39) N242K probably damaging Het
Prss1 T A 6: 41,439,690 (GRCm39) I141N probably damaging Het
Puf60 A G 15: 75,943,717 (GRCm39) V235A probably damaging Het
Rapgef6 T A 11: 54,437,252 (GRCm39) F65Y probably benign Het
Rasgef1b T C 5: 99,447,898 (GRCm39) E104G unknown Het
Rcn3 T C 7: 44,734,333 (GRCm39) Y225C probably damaging Het
Rhot1 G C 11: 80,137,560 (GRCm39) W354S probably damaging Het
Rp1 T C 1: 4,417,513 (GRCm39) S1200G possibly damaging Het
Scaper T A 9: 55,745,460 (GRCm39) K603* probably null Het
Selenbp1 G A 3: 94,851,745 (GRCm39) V429I possibly damaging Het
Setd5 T G 6: 113,098,099 (GRCm39) S713A probably benign Het
Shank1 T C 7: 44,002,564 (GRCm39) Y1428H possibly damaging Het
Slc11a1 G T 1: 74,422,830 (GRCm39) W361L possibly damaging Het
Spta1 A T 1: 174,050,837 (GRCm39) D1772V possibly damaging Het
St8sia6 T C 2: 13,661,721 (GRCm39) H370R probably damaging Het
Stkld1 A T 2: 26,842,726 (GRCm39) D566V probably damaging Het
Tango6 T C 8: 107,415,791 (GRCm39) V204A probably benign Het
Tdrd5 G A 1: 156,129,293 (GRCm39) A139V probably damaging Het
Tenm2 A T 11: 36,062,263 (GRCm39) V534E probably damaging Het
Tfip11 A T 5: 112,479,044 (GRCm39) Q204L probably benign Het
Tlr4 A T 4: 66,759,430 (GRCm39) Q741L probably damaging Het
Tmem18 A G 12: 30,638,654 (GRCm39) M111V probably benign Het
Togaram1 A G 12: 65,042,292 (GRCm39) N1167S probably benign Het
Trappc3 C T 4: 126,168,945 (GRCm39) A145V possibly damaging Het
Trbj2-3 T C 6: 41,520,176 (GRCm39) F7S probably damaging Het
Vinac1 A G 2: 128,880,238 (GRCm39) S563P Het
Vmn1r212 T A 13: 23,067,731 (GRCm39) M201L probably benign Het
Xaf1 C A 11: 72,194,201 (GRCm39) C27* probably null Het
Zeb1 T C 18: 5,767,703 (GRCm39) V738A probably benign Het
Zfp524 A T 7: 5,020,883 (GRCm39) H137L probably damaging Het
Zfyve19 A T 2: 119,047,118 (GRCm39) H367L probably damaging Het
Zim1 G A 7: 6,680,872 (GRCm39) Q264* probably null 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
R7201:Papss1 UTSW 3 131,305,687 (GRCm39) missense probably damaging 1.00
R7276:Papss1 UTSW 3 131,324,995 (GRCm39) missense probably benign 0.11
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'- TGAACTTCAGTGCAGGTTGG -3'
(R):5'- GATCCAATGACTCACACCTTTTCTG -3'

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