|Institutional Source||Beutler Lab|
|Gene Name||3'-phosphoadenosine 5'-phosphosulfate synthase 2|
|Synonyms||Sk2, Atpsk2, 1810018P12Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.194)|
|Stock #||R1488 (G1)|
|Chromosomal Location||32620005-32667187 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 32637090 bp|
|Amino Acid Change||Serine to Proline at position 69 (S69P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025833 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025833]|
|Predicted Effect||probably benign
AA Change: S69P
PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: S69P
|Meta Mutation Damage Score||0.0727|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
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||
|Other mutations in Papss2||
(F):5'- CCCTATTGACAAACCTCGGTTGCTC -3'
(R):5'- AAGCTGGTGATGCAAACCAGGC -3'
(F):5'- GGTTTATTGAGAGACTAGCCCC -3'
(R):5'- ATCCGGCGGATATTCTCTTCTC -3'