|Institutional Source||Beutler Lab|
|Gene Name||reversion-inducing-cysteine-rich protein with kazal motifs|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8047 (G1)|
|Chromosomal Location||43875530-43944806 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 43927221 bp|
|Amino Acid Change||Leucine to Proline at position 504 (L504P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030198 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030198]|
|Predicted Effect||probably damaging
AA Change: L504P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: L504P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in lethality around E10.5-E11.5, defects in collagen fibrils, basal lamina and vascular development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Reck||
(F):5'- CTGGTTAGACTCAGGCCTTAC -3'
(R):5'- GTGTGTGGAAAACCCTTAAACATTAC -3'
(F):5'- GGTTAGACTCAGGCCTTACTTTCTG -3'
(R):5'- TCTAAGGAAGTGCCAGCA -3'