Incidental Mutation 'R0317:Cela2a'
ID 25439
Institutional Source Beutler Lab
Gene Symbol Cela2a
Ensembl Gene ENSMUSG00000058579
Gene Name chymotrypsin-like elastase family, member 2A
Synonyms Ela2, Ela-2, Ela2a
MMRRC Submission 038527-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R0317 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 141542265-141553316 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 141549011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102481]
AlphaFold P05208
Predicted Effect probably null
Transcript: ENSMUST00000102481
SMART Domains Protein: ENSMUSP00000099539
Gene: ENSMUSG00000058579

signal peptide 1 16 N/A INTRINSIC
Tryp_SPc 30 264 2.75e-95 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155826
Predicted Effect probably benign
Transcript: ENSMUST00000176781
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a serine protease enzyme that hydrolyzes elastin. This gene is highly expressed in the pancreatic acinar cells where the encoded preproprotein undergoes processing including signal peptide cleavage to generate an inactive zymogen. The removal of N-terminal activation peptide from the zymogen by trypsin generates active elastase enzyme. This gene is also expressed in the mouse epidermis where it participates in pro-filaggrin processing. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,243,459 (GRCm39) V1774A probably damaging Het
Adam34 G A 8: 44,105,288 (GRCm39) P119L probably benign Het
Ap3b2 T C 7: 81,113,429 (GRCm39) probably null Het
Arfip2 G A 7: 105,286,430 (GRCm39) T124M probably damaging Het
Arhgef26 T C 3: 62,330,965 (GRCm39) S560P probably damaging Het
Bcl11a A T 11: 24,122,697 (GRCm39) probably null Het
Cab39 A G 1: 85,776,881 (GRCm39) E322G probably damaging Het
Cad C A 5: 31,229,665 (GRCm39) P1382Q probably benign Het
Cc2d2a T C 5: 43,864,243 (GRCm39) probably null Het
Cert1 C T 13: 96,770,629 (GRCm39) R487* probably null Het
Ces1e A C 8: 93,950,667 (GRCm39) I38S probably benign Het
Ces1f A T 8: 93,990,019 (GRCm39) F364I probably benign Het
Chgb A G 2: 132,635,731 (GRCm39) T558A probably benign Het
Cnpy4 C T 5: 138,191,074 (GRCm39) Q217* probably null Het
Crlf1 A G 8: 70,951,249 (GRCm39) T43A probably benign Het
Dnah7b T A 1: 46,173,816 (GRCm39) M707K probably damaging Het
Ets2 G A 16: 95,513,193 (GRCm39) S123N probably damaging Het
Fry T C 5: 150,394,933 (GRCm39) F304S probably damaging Het
Gadd45gip1 G A 8: 85,560,745 (GRCm39) R120H probably benign Het
Gbf1 A G 19: 46,242,459 (GRCm39) T96A probably benign Het
Ggn T A 7: 28,870,515 (GRCm39) M1K probably null Het
Gm5239 A G 18: 35,669,969 (GRCm39) T112A probably benign Het
Insyn2b C A 11: 34,352,826 (GRCm39) D289E possibly damaging Het
Kifbp A T 10: 62,413,861 (GRCm39) probably null Het
Lrrc15 A T 16: 30,092,561 (GRCm39) H259Q probably benign Het
Lysmd4 A G 7: 66,876,045 (GRCm39) Y236C probably damaging Het
Med29 T C 7: 28,086,284 (GRCm39) T175A possibly damaging Het
Mfsd12 G T 10: 81,193,633 (GRCm39) D68Y probably damaging Het
Myh1 T C 11: 67,108,338 (GRCm39) L1308P probably damaging Het
Nphp4 T A 4: 152,636,388 (GRCm39) probably null Het
Or8g30 A G 9: 39,230,757 (GRCm39) I51T probably benign Het
Pdhx A G 2: 102,858,625 (GRCm39) V393A probably benign Het
Pgm5 A G 19: 24,801,763 (GRCm39) I155T possibly damaging Het
Pgr A T 9: 8,965,023 (GRCm39) I889F probably benign Het
Phactr4 T A 4: 132,114,241 (GRCm39) K51I probably damaging Het
Pum2 T A 12: 8,778,754 (GRCm39) I468K possibly damaging Het
Rab11a A G 9: 64,632,835 (GRCm39) S24P probably damaging Het
Rasef T C 4: 73,666,799 (GRCm39) Q160R probably damaging Het
Rbl2 A G 8: 91,813,772 (GRCm39) D339G probably benign Het
Recql5 A G 11: 115,785,499 (GRCm39) S666P probably benign Het
Rfc1 A T 5: 65,453,395 (GRCm39) probably null Het
Scarb1 A G 5: 125,366,756 (GRCm39) V59A probably damaging Het
Slc2a4 C T 11: 69,837,182 (GRCm39) V85M probably damaging Het
Slc6a12 A G 6: 121,335,584 (GRCm39) I291V possibly damaging Het
Slco3a1 A C 7: 74,154,174 (GRCm39) Y104D probably damaging Het
Suz12 T A 11: 79,889,904 (GRCm39) D13E probably damaging Het
Tlr1 G T 5: 65,083,310 (GRCm39) C422* probably null Het
Tmco1 T C 1: 167,153,462 (GRCm39) V114A probably damaging Het
Trpa1 T C 1: 14,951,856 (GRCm39) T948A probably benign Het
Tub A T 7: 108,620,134 (GRCm39) N93Y probably damaging Het
Ufsp2 G A 8: 46,445,270 (GRCm39) probably null Het
Veph1 T C 3: 66,079,396 (GRCm39) D373G probably benign Het
Vmn1r206 A G 13: 22,805,130 (GRCm39) S26P possibly damaging Het
Vmn2r1 T C 3: 63,989,240 (GRCm39) S60P possibly damaging Het
Wdcp A G 12: 4,901,583 (GRCm39) S480G probably benign Het
Wnk4 T C 11: 101,159,630 (GRCm39) S612P probably benign Het
Zfp503 T C 14: 22,036,527 (GRCm39) K130E probably benign Het
Zkscan16 G A 4: 58,957,602 (GRCm39) C628Y possibly damaging Het
Other mutations in Cela2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03066:Cela2a APN 4 141,548,765 (GRCm39) missense probably damaging 1.00
R1372:Cela2a UTSW 4 141,546,405 (GRCm39) missense probably damaging 1.00
R1619:Cela2a UTSW 4 141,553,252 (GRCm39) critical splice donor site probably null
R1719:Cela2a UTSW 4 141,545,257 (GRCm39) missense probably damaging 0.98
R2155:Cela2a UTSW 4 141,545,350 (GRCm39) splice site probably null
R2323:Cela2a UTSW 4 141,553,390 (GRCm39) intron probably benign
R4705:Cela2a UTSW 4 141,548,722 (GRCm39) missense probably benign 0.00
R4851:Cela2a UTSW 4 141,552,902 (GRCm39) missense probably benign 0.03
R4880:Cela2a UTSW 4 141,549,598 (GRCm39) missense probably benign 0.01
R5704:Cela2a UTSW 4 141,553,299 (GRCm39) intron probably benign
R5809:Cela2a UTSW 4 141,552,864 (GRCm39) missense probably benign 0.00
R6710:Cela2a UTSW 4 141,549,554 (GRCm39) missense probably damaging 1.00
R7946:Cela2a UTSW 4 141,549,617 (GRCm39) missense possibly damaging 0.74
RF011:Cela2a UTSW 4 141,549,026 (GRCm39) missense probably benign
Z1176:Cela2a UTSW 4 141,548,702 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-04-16