Incidental Mutation 'IGL01597:Papss2'
ID 91722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Papss2
Ensembl Gene ENSMUSG00000024899
Gene Name 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Synonyms Sk2, Atpsk2, 1810018P12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # IGL01597
Quality Score
Status
Chromosome 19
Chromosomal Location 32573190-32644587 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32615658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 130 (R130H)
Ref Sequence ENSEMBL: ENSMUSP00000025833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025833]
AlphaFold O88428
Predicted Effect probably damaging
Transcript: ENSMUST00000025833
AA Change: R130H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025833
Gene: ENSMUSG00000024899
AA Change: R130H

DomainStartEndE-ValueType
Pfam:APS_kinase 42 200 2.3e-74 PFAM
low complexity region 204 214 N/A INTRINSIC
Pfam:PUA_2 216 382 4e-52 PFAM
Pfam:ATP-sulfurylase 390 613 1.9e-70 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutation s in this gene display delayed growth and shorter limbs and other abnormalities in bone formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d1 A T 5: 16,531,390 (GRCm39) probably benign Het
Cdk12 A G 11: 98,141,090 (GRCm39) probably benign Het
Ces1e T A 8: 93,937,001 (GRCm39) I357F probably benign Het
Dicer1 G A 12: 104,671,469 (GRCm39) R934* probably null Het
Dnah9 A T 11: 66,009,656 (GRCm39) Y744N probably damaging Het
Fgd5 T A 6: 91,964,910 (GRCm39) I381N probably damaging Het
Gabrg1 T C 5: 70,939,691 (GRCm39) D147G probably damaging Het
Gpsm2 A T 3: 108,604,303 (GRCm39) M385K probably benign Het
Hivep2 C T 10: 14,025,118 (GRCm39) Q2311* probably null Het
Or51ah3 A G 7: 103,210,349 (GRCm39) I222V possibly damaging Het
Or51b17 A G 7: 103,542,303 (GRCm39) V213A probably benign Het
Or5c1 A C 2: 37,222,023 (GRCm39) D88A possibly damaging Het
Or7e173 A T 9: 19,938,982 (GRCm39) M84K probably damaging Het
Pik3r5 A T 11: 68,386,827 (GRCm39) I819F probably damaging Het
Pipox A G 11: 77,774,019 (GRCm39) V199A probably damaging Het
Pkd1l3 G T 8: 110,350,153 (GRCm39) V333L probably benign Het
Rbl1 A G 2: 157,037,369 (GRCm39) probably benign Het
Scyl2 T A 10: 89,488,849 (GRCm39) I489F probably damaging Het
Serinc4 T A 2: 121,285,472 (GRCm39) L100F probably damaging Het
Slc39a12 T A 2: 14,439,120 (GRCm39) F458Y possibly damaging Het
Snrnp200 T C 2: 127,080,652 (GRCm39) probably benign Het
Syngr4 T C 7: 45,536,390 (GRCm39) T211A probably benign Het
Taar8a T C 10: 23,952,756 (GRCm39) L120P possibly damaging Het
Tbx10 A G 19: 4,046,736 (GRCm39) K72R probably benign Het
Tomm70a A G 16: 56,953,551 (GRCm39) T149A probably benign Het
Traip T A 9: 107,833,123 (GRCm39) probably null Het
Trpm3 G A 19: 22,692,610 (GRCm39) G234R probably damaging Het
Tubgcp5 A G 7: 55,456,580 (GRCm39) probably benign Het
Vstm5 T C 9: 15,168,675 (GRCm39) W80R probably damaging Het
Vwa5a A T 9: 38,645,161 (GRCm39) R415S probably damaging Het
Zfp39 A G 11: 58,782,369 (GRCm39) V131A probably damaging Het
Other mutations in Papss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Papss2 APN 19 32,629,482 (GRCm39) missense probably benign
IGL02052:Papss2 APN 19 32,637,983 (GRCm39) missense possibly damaging 0.92
IGL02631:Papss2 APN 19 32,611,404 (GRCm39) splice site probably benign
diablo UTSW 19 32,615,760 (GRCm39) missense probably damaging 1.00
R0091:Papss2 UTSW 19 32,611,302 (GRCm39) missense possibly damaging 0.94
R0116:Papss2 UTSW 19 32,615,768 (GRCm39) nonsense probably null
R0708:Papss2 UTSW 19 32,614,616 (GRCm39) missense probably damaging 0.97
R1336:Papss2 UTSW 19 32,615,715 (GRCm39) missense possibly damaging 0.73
R1488:Papss2 UTSW 19 32,614,490 (GRCm39) missense probably benign 0.02
R1931:Papss2 UTSW 19 32,616,368 (GRCm39) nonsense probably null
R4025:Papss2 UTSW 19 32,629,323 (GRCm39) missense probably damaging 0.98
R4369:Papss2 UTSW 19 32,618,791 (GRCm39) missense probably damaging 1.00
R4762:Papss2 UTSW 19 32,616,378 (GRCm39) missense probably benign 0.05
R5235:Papss2 UTSW 19 32,616,619 (GRCm39) missense probably benign 0.00
R5294:Papss2 UTSW 19 32,616,400 (GRCm39) missense probably benign 0.03
R5320:Papss2 UTSW 19 32,615,787 (GRCm39) missense probably damaging 1.00
R5721:Papss2 UTSW 19 32,638,064 (GRCm39) missense probably damaging 1.00
R5768:Papss2 UTSW 19 32,638,119 (GRCm39) splice site probably null
R5982:Papss2 UTSW 19 32,616,636 (GRCm39) missense probably benign
R6124:Papss2 UTSW 19 32,614,528 (GRCm39) missense probably damaging 1.00
R6395:Papss2 UTSW 19 32,641,876 (GRCm39) missense probably damaging 1.00
R6546:Papss2 UTSW 19 32,640,548 (GRCm39) missense possibly damaging 0.78
R6571:Papss2 UTSW 19 32,629,342 (GRCm39) splice site probably null
R7055:Papss2 UTSW 19 32,641,827 (GRCm39) missense probably damaging 1.00
R7315:Papss2 UTSW 19 32,616,625 (GRCm39) missense possibly damaging 0.60
R7726:Papss2 UTSW 19 32,611,403 (GRCm39) splice site probably null
R7753:Papss2 UTSW 19 32,597,579 (GRCm39) missense probably benign 0.00
R7991:Papss2 UTSW 19 32,629,403 (GRCm39) missense possibly damaging 0.93
R8155:Papss2 UTSW 19 32,618,742 (GRCm39) missense probably benign 0.24
R8275:Papss2 UTSW 19 32,615,760 (GRCm39) missense probably damaging 1.00
R9135:Papss2 UTSW 19 32,618,764 (GRCm39) missense probably damaging 1.00
R9425:Papss2 UTSW 19 32,615,750 (GRCm39) missense possibly damaging 0.61
X0028:Papss2 UTSW 19 32,615,795 (GRCm39) splice site probably null
Posted On 2013-12-09