Incidental Mutation 'IGL01597:Papss2'
ID91722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Papss2
Ensembl Gene ENSMUSG00000024899
Gene Name3'-phosphoadenosine 5'-phosphosulfate synthase 2
SynonymsSk2, Atpsk2, 1810018P12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #IGL01597
Quality Score
Status
Chromosome19
Chromosomal Location32620005-32667187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 32638258 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 130 (R130H)
Ref Sequence ENSEMBL: ENSMUSP00000025833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025833]
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: 16,326,392 probably benign Het
Cdk12 A G 11: 98,250,264 probably benign Het
Ces1e T A 8: 93,210,373 I357F probably benign Het
Dicer1 G A 12: 104,705,210 R934* probably null Het
Dnah9 A T 11: 66,118,830 Y744N probably damaging Het
Fgd5 T A 6: 91,987,929 I381N probably damaging Het
Gabrg1 T C 5: 70,782,348 D147G probably damaging Het
Gpsm2 A T 3: 108,696,987 M385K probably benign Het
Hivep2 C T 10: 14,149,374 Q2311* probably null Het
Olfr368 A C 2: 37,332,011 D88A possibly damaging Het
Olfr615 A G 7: 103,561,142 I222V possibly damaging Het
Olfr64 A G 7: 103,893,096 V213A probably benign Het
Olfr866 A T 9: 20,027,686 M84K probably damaging Het
Pik3r5 A T 11: 68,496,001 I819F probably damaging Het
Pipox A G 11: 77,883,193 V199A probably damaging Het
Pkd1l3 G T 8: 109,623,521 V333L probably benign Het
Rbl1 A G 2: 157,195,449 probably benign Het
Scyl2 T A 10: 89,652,987 I489F probably damaging Het
Serinc4 T A 2: 121,454,991 L100F probably damaging Het
Slc39a12 T A 2: 14,434,309 F458Y possibly damaging Het
Snrnp200 T C 2: 127,238,732 probably benign Het
Syngr4 T C 7: 45,886,966 T211A probably benign Het
Taar8a T C 10: 24,076,858 L120P possibly damaging Het
Tbx10 A G 19: 3,996,736 K72R probably benign Het
Tomm70a A G 16: 57,133,188 T149A probably benign Het
Traip T A 9: 107,955,924 probably null Het
Trpm3 G A 19: 22,715,246 G234R probably damaging Het
Tubgcp5 A G 7: 55,806,832 probably benign Het
Vstm5 T C 9: 15,257,379 W80R probably damaging Het
Vwa5a A T 9: 38,733,865 R415S probably damaging Het
Zfp39 A G 11: 58,891,543 V131A probably damaging Het
Other mutations in Papss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Papss2 APN 19 32652082 missense probably benign
IGL02052:Papss2 APN 19 32660583 missense possibly damaging 0.92
IGL02631:Papss2 APN 19 32634004 splice site probably benign
R0091:Papss2 UTSW 19 32633902 missense possibly damaging 0.94
R0116:Papss2 UTSW 19 32638368 nonsense probably null
R0708:Papss2 UTSW 19 32637216 missense probably damaging 0.97
R1336:Papss2 UTSW 19 32638315 missense possibly damaging 0.73
R1488:Papss2 UTSW 19 32637090 missense probably benign 0.02
R1931:Papss2 UTSW 19 32638968 nonsense probably null
R4025:Papss2 UTSW 19 32651923 missense probably damaging 0.98
R4369:Papss2 UTSW 19 32641391 missense probably damaging 1.00
R4762:Papss2 UTSW 19 32638978 missense probably benign 0.05
R5235:Papss2 UTSW 19 32639219 missense probably benign 0.00
R5294:Papss2 UTSW 19 32639000 missense probably benign 0.03
R5320:Papss2 UTSW 19 32638387 missense probably damaging 1.00
R5721:Papss2 UTSW 19 32660664 missense probably damaging 1.00
R5768:Papss2 UTSW 19 32660719 splice site probably null
R5982:Papss2 UTSW 19 32639236 missense probably benign
R6124:Papss2 UTSW 19 32637128 missense probably damaging 1.00
R6395:Papss2 UTSW 19 32664476 missense probably damaging 1.00
R6546:Papss2 UTSW 19 32663148 missense possibly damaging 0.78
R6571:Papss2 UTSW 19 32651942 splice site probably null
R7055:Papss2 UTSW 19 32664427 missense probably damaging 1.00
R7315:Papss2 UTSW 19 32639225 missense possibly damaging 0.60
R7726:Papss2 UTSW 19 32634003 splice site probably null
R7753:Papss2 UTSW 19 32620179 missense probably benign 0.00
R7991:Papss2 UTSW 19 32652003 missense possibly damaging 0.93
R8155:Papss2 UTSW 19 32641342 missense probably benign 0.24
R8275:Papss2 UTSW 19 32638360 missense probably damaging 1.00
X0028:Papss2 UTSW 19 32638395 splice site probably null
Posted On2013-12-09