|Institutional Source||Beutler Lab|
|Gene Name||nephroblastoma overexpressed gene|
|Is this an essential gene?||Probably non essential (E-score: 0.165)|
|Stock #||R5165 (G1)|
|Chromosomal Location||54745702-54754039 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 54749189 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 198 (D198G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054389 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050027]|
|Predicted Effect||probably damaging
AA Change: D198G
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D198G
|Meta Mutation Damage Score||0.0649|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]
PHENOTYPE: Heterozygotes and homozygotes for a null mutation exhibit abnormal skeletal and cardiac development, muscle atrophy and cataracts. Mice homozygous for another knock-out allele exhibit minor bone structure and physiology defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nov||
(F):5'- AACCTAGTGCTGTGTTCTGC -3'
(R):5'- TTTCTAGAGGCCAGGCTCCAAG -3'
(F):5'- ACCTAGTGCTGTGTTCTGCAAAAC -3'
(R):5'- CTGGTATAAAGGGATAGGTTCCTACC -3'