Incidental Mutation 'IGL02631:Papss2'
ID 301323
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 # IGL02631
Quality Score
Status
Chromosome 19
Chromosomal Location 32573190-32644587 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 32611404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025833]
AlphaFold O88428
Predicted Effect probably benign
Transcript: ENSMUST00000025833
SMART Domains Protein: ENSMUSP00000025833
Gene: ENSMUSG00000024899

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 A G 6: 113,725,506 (GRCm39) S1242P probably damaging Het
Bglap A T 3: 88,290,987 (GRCm39) Y81* probably null Het
Ccdc83 T C 7: 89,893,277 (GRCm39) D160G possibly damaging Het
Cep97 A T 16: 55,742,541 (GRCm39) C135* probably null Het
Cog1 C T 11: 113,547,304 (GRCm39) Q633* probably null Het
Cyp4f40 A T 17: 32,894,609 (GRCm39) probably benign Het
Dennd2c T A 3: 103,063,387 (GRCm39) M608K possibly damaging Het
Enpp1 A G 10: 24,517,859 (GRCm39) S855P probably damaging Het
Eprs1 T C 1: 185,160,095 (GRCm39) I1457T probably damaging Het
Fam149b G A 14: 20,425,614 (GRCm39) V300M probably damaging Het
Fcgbp T A 7: 27,784,723 (GRCm39) L261Q probably damaging Het
Flt1 G T 5: 147,610,384 (GRCm39) S413* probably null Het
Flt3 T G 5: 147,281,362 (GRCm39) D790A probably damaging Het
Gpat2 A G 2: 127,276,152 (GRCm39) probably benign Het
Gpr151 T C 18: 42,711,835 (GRCm39) K281R probably benign Het
Hoxa5 G A 6: 52,180,790 (GRCm39) R181C probably damaging Het
Irx4 C T 13: 73,416,596 (GRCm39) R331W probably damaging Het
Lmo2 T C 2: 103,811,432 (GRCm39) I155T probably benign Het
Nbeal2 G A 9: 110,459,276 (GRCm39) R1944C probably damaging Het
Obp2b A G 2: 25,629,255 (GRCm39) N141S probably damaging Het
Or4c10b T A 2: 89,711,599 (GRCm39) V143E possibly damaging Het
Or4c3d T A 2: 89,881,786 (GRCm39) N294I probably damaging Het
Rapgef2 A T 3: 78,990,533 (GRCm39) M915K possibly damaging Het
Raver2 A C 4: 100,953,499 (GRCm39) D89A probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Setd2 A G 9: 110,379,644 (GRCm39) D1153G possibly damaging Het
Slc25a12 C T 2: 71,127,086 (GRCm39) G365E possibly damaging Het
Slc35e4 A C 11: 3,857,729 (GRCm39) V292G probably damaging Het
Slc36a4 T C 9: 15,638,237 (GRCm39) V221A probably damaging Het
Slc7a14 C A 3: 31,292,827 (GRCm39) A153S probably damaging Het
Smc1b T C 15: 84,991,204 (GRCm39) D658G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tab3 A G X: 84,658,139 (GRCm39) N222S probably benign Het
Tdrd6 T A 17: 43,937,110 (GRCm39) T1313S probably damaging Het
Tnfrsf1b A T 4: 144,951,398 (GRCm39) C181S probably damaging Het
Trdn A T 10: 33,239,972 (GRCm39) probably null Het
Trip12 A T 1: 84,743,729 (GRCm39) V526E possibly damaging Het
Trps1 T C 15: 50,709,417 (GRCm39) D311G probably damaging Het
Ttf1 A G 2: 28,959,912 (GRCm39) I507V probably damaging Het
Unc80 A C 1: 66,569,222 (GRCm39) D959A probably damaging Het
Unc93b1 T C 19: 3,992,026 (GRCm39) probably benign Het
Utrn A G 10: 12,585,807 (GRCm39) F990S probably benign Het
V1rd19 T C 7: 23,702,825 (GRCm39) L97P probably damaging Het
Other mutations in Papss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01597:Papss2 APN 19 32,615,658 (GRCm39) missense probably damaging 1.00
IGL01646:Papss2 APN 19 32,629,482 (GRCm39) missense probably benign
IGL02052:Papss2 APN 19 32,637,983 (GRCm39) missense possibly damaging 0.92
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 2015-04-16