Incidental Mutation 'R1372:Cela2a'
ID 157356
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 039436-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R1372 (G1)
Quality Score 163
Status Not validated
Chromosome 4
Chromosomal Location 141542265-141553316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 141546405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 178 (G178D)
Ref Sequence ENSEMBL: ENSMUSP00000099539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030747] [ENSMUST00000102481]
AlphaFold P05208
Predicted Effect probably benign
Transcript: ENSMUST00000030747
SMART Domains Protein: ENSMUSP00000030747
Gene: ENSMUSG00000028914

DomainStartEndE-ValueType
CARD 1 91 2.99e-32 SMART
CASc 190 453 4.64e-111 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102481
AA Change: G178D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099539
Gene: ENSMUSG00000058579
AA Change: G178D

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Tryp_SPc 30 264 2.75e-95 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127962
Predicted Effect probably benign
Transcript: ENSMUST00000176781
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.7%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T A 8: 117,698,696 (GRCm39) Q137L possibly damaging Het
Abca12 A G 1: 71,334,016 (GRCm39) I1162T probably damaging Het
Adcy2 T A 13: 68,816,652 (GRCm39) N778I probably damaging Het
Adgre5 G A 8: 84,454,949 (GRCm39) P248S probably damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Ankrd28 A T 14: 31,467,218 (GRCm39) M248K probably benign Het
Asxl3 T G 18: 22,543,066 (GRCm39) S20A probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Car10 A T 11: 93,469,525 (GRCm39) T167S probably benign Het
Cbx7 C T 15: 79,803,074 (GRCm39) G160R probably damaging Het
Cd209d C A 8: 3,928,515 (GRCm39) probably benign Het
Cdca4 G A 12: 112,785,537 (GRCm39) Q64* probably null Het
Cntnap5b G A 1: 100,091,813 (GRCm39) D499N probably benign Het
Cox7a2 G A 9: 79,665,819 (GRCm39) R21* probably null Het
Crmp1 G A 5: 37,446,155 (GRCm39) G604R probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cxcr1 T C 1: 74,231,161 (GRCm39) D287G probably benign Het
Cyp4a12b T C 4: 115,290,146 (GRCm39) I233T probably benign Het
Dlg1 T C 16: 31,631,638 (GRCm39) I208T probably damaging Het
Dsg4 C A 18: 20,582,733 (GRCm39) probably null Het
Epha3 A G 16: 63,431,416 (GRCm39) I495T possibly damaging Het
Hmcn1 A T 1: 150,556,466 (GRCm39) M2440K probably benign Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Leo1 T C 9: 75,356,751 (GRCm39) V377A possibly damaging Het
Lsg1 A G 16: 30,383,472 (GRCm39) F583L possibly damaging Het
Mphosph9 A T 5: 124,421,808 (GRCm39) probably null Het
Mpp3 A G 11: 101,891,401 (GRCm39) V579A probably damaging Het
Oca2 T A 7: 56,185,716 (GRCm39) M814K probably benign Het
Odad3 C T 9: 21,904,916 (GRCm39) R290H probably damaging Het
Pdgfra A G 5: 75,349,924 (GRCm39) E936G probably damaging Het
Pkd1 T C 17: 24,794,240 (GRCm39) C1976R probably damaging Het
Plekhg5 G A 4: 152,189,188 (GRCm39) R243H probably damaging Het
Pogz T A 3: 94,768,199 (GRCm39) L126M probably damaging Het
Rbm15 G T 3: 107,239,946 (GRCm39) R151S possibly damaging Het
Rec8 T C 14: 55,856,431 (GRCm39) Y68H probably damaging Het
Rhcg A T 7: 79,249,122 (GRCm39) D366E probably benign Het
Ryr3 T A 2: 112,664,546 (GRCm39) S1582C probably damaging Het
Sh3pxd2a A T 19: 47,256,160 (GRCm39) W853R probably damaging Het
Spopfm1 A G 3: 94,173,435 (GRCm39) T148A possibly damaging Het
Tnxb T C 17: 34,929,267 (GRCm39) V2770A possibly damaging Het
Vmn2r63 A G 7: 42,578,642 (GRCm39) F84L possibly damaging Het
Other mutations in Cela2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03066:Cela2a APN 4 141,548,765 (GRCm39) missense probably damaging 1.00
R0317:Cela2a UTSW 4 141,549,011 (GRCm39) critical splice donor site probably null
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
(F):5'- ACGGACAGGTTCTGAAATGTTCCAG -3'
(R):5'- ACAGCAGCAACGCTTCTCCTTC -3'

Sequencing Primer
(F):5'- gcccaggaaggaaggaaaag -3'
(R):5'- tcctcctgtctctgtctcc -3'
Posted On 2014-02-18