|Institutional Source||Beutler Lab|
|Gene Name||WNT1 inducible signaling pathway protein 2|
|Synonyms||rCop1, Crgr4, CCN5|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0600 (G1)|
|Chromosomal Location||163820861-163833146 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 163825313 bp|
|Amino Acid Change||Cysteine to Tyrosine at position 78 (C78Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029188 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029188]|
|Predicted Effect||probably damaging
AA Change: C78Y
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C78Y
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9506|
|Coding Region Coverage||
|Validation Efficiency||99% (95/96)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viabe and overtly normal with no adult bone phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wisp2||
(F):5'- AGGTTTCTGTCTCCCCAGGTGTATG -3'
(R):5'- AGGTCACCATCAGGACAGTTCCAG -3'
(F):5'- TGTGCCTGTCCTTGGACAC -3'
(R):5'- GTTGAGCTGAATAAACCTAGCAC -3'