|Institutional Source||Beutler Lab|
|Gene Name||progressive ankylosis|
|Is this an essential gene?||Possibly essential (E-score: 0.510)|
|Stock #||R4029 (G1)|
|Chromosomal Location||27466677-27594909 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 27544257 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 35 (N35D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022875 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022875] [ENSMUST00000228179]|
|Predicted Effect||probably damaging
AA Change: N35D
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: N35D
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9186|
|Coding Region Coverage||
|Validation Efficiency||100% (31/31)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals exhibit joint stiffness due to increased calcium deposits in calcified cartilages and die prematurely. Hyperostosis of craniofacial bones and the mandible has been reported in other mutants as well. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ank||
(F):5'- GCTCAAACTGAAGCTAATGTGG -3'
(R):5'- ACCTATCAGGGTGTGGAAGAC -3'
(F):5'- CTGAAGCTAATGTGGACAAAACC -3'
(R):5'- TGTGGAAGACGGCAGCG -3'