|Institutional Source||Beutler Lab|
|Gene Name||mucin 2|
|Essential gene?||Probably non essential (E-score: 0.094)|
|Stock #||R6390 (G1)|
|Chromosomal Location||141690340-141754693 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 141752146 bp (GRCm38)|
|Amino Acid Change||Valine to Leucine at position 230 (V230L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026590 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026590]|
|AlphaFold||no structure available at present|
AA Change: V230L
PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: V230L
AA Change: V669L
|Coding Region Coverage||
|Validation Efficiency||100% (29/29)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygotes for a point mutation have soft feces at weaning and develop diarrhea associated with malapsorption syndrome. Homozygous null mutants pass blood in their feces at 6 months, and 65% of null mutants have intestinal tumors at 1 year. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Muc2||
(F):5'- ATTCCTGTGGTAAGTGAGGC -3'
(R):5'- TGGCACTTGTTGGAATACACTG -3'
(F):5'- CAGGCTGTGAACAAGGGTCC -3'
(R):5'- CACTTGTTGGAATACACTGGAGATCC -3'