|Institutional Source||Beutler Lab|
|Gene Name||cathepsin G|
|Is this an essential gene?||Probably non essential (E-score: 0.053)|
|Stock #||R0032 (G1) of strain 731|
|Chromosomal Location||56099881-56102574 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 56101739 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 21 (I21F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015583 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015583]|
|Predicted Effect||probably damaging
AA Change: I21F
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: I21F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.244|
|Coding Region Coverage||
|Validation Efficiency||100% (89/89)|
FUNCTION: This gene encodes a member of the peptidase S1 (chymotrypsin) family of serine endopeptidases. The encoded preproprotein is proteolytically processed to generate a mature protein product. This product appears to play a role in host defense, including inflammation and antigen processing. Homozygous knockout mice for this gene exhibit enhanced susceptibility to bacterial and fungal infection. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to bacterial infection induced mortality but increased susceptibility to mortality induced by fungal infection. Mice either homozygous or heterozygous for a knock-in allele develop an abrupt onset, rapidly fatal acute leukemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ctsg||
(F):5'- AGTTCCTCACCTTCCCAAGCAATG -3'
(R):5'- GCGTCTCAATAGCCAGAATCAGCC -3'
(F):5'- CCAAGCAATGAGCTGCTGTTAG -3'
(R):5'- TCTCCATTTGGAGGAGCACAC -3'