Incidental Mutation 'IGL03066:Cela2a'
ID 409696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cela2a
Ensembl Gene ENSMUSG00000058579
Gene Name chymotrypsin-like elastase family, member 2A
Synonyms Ela2, Ela-2, Ela2a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # IGL03066
Quality Score
Status
Chromosome 4
Chromosomal Location 141542265-141553316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 141548765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 124 (I124F)
Ref Sequence ENSEMBL: ENSMUSP00000099539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102481]
AlphaFold P05208
Predicted Effect probably damaging
Transcript: ENSMUST00000102481
AA Change: I124F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099539
Gene: ENSMUSG00000058579
AA Change: I124F

DomainStartEndE-ValueType
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
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
Brd4 A C 17: 32,418,062 (GRCm39) probably benign Het
Cd209d C A 8: 3,928,437 (GRCm39) probably null Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Cnot2 A T 10: 116,335,262 (GRCm39) N245K probably benign Het
Cpt2 A G 4: 107,765,183 (GRCm39) F148L probably benign Het
Ctsj A C 13: 61,152,302 (GRCm39) H21Q possibly damaging Het
Cul4a A G 8: 13,183,776 (GRCm39) N388S probably benign Het
Dnah12 A G 14: 26,418,553 (GRCm39) D147G probably benign Het
Dnhd1 A G 7: 105,369,089 (GRCm39) T4287A probably damaging Het
Dock10 C A 1: 80,562,758 (GRCm39) C534F probably benign Het
Efcab14 A G 4: 115,596,001 (GRCm39) E49G probably benign Het
Fancm G T 12: 65,171,888 (GRCm39) E86* probably null Het
Galnt17 A T 5: 130,929,486 (GRCm39) S440R probably benign Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Lctl T G 9: 64,025,017 (GRCm39) M1R probably null Het
Llgl1 A G 11: 60,596,860 (GRCm39) T154A possibly damaging Het
Mink1 G T 11: 70,499,715 (GRCm39) V750F probably benign Het
Mroh7 A G 4: 106,549,595 (GRCm39) V950A possibly damaging Het
Myg1 G A 15: 102,242,801 (GRCm39) probably benign Het
Or4x11 A T 2: 89,867,778 (GRCm39) I172F probably damaging Het
Or6b2b T A 1: 92,419,305 (GRCm39) R57S probably damaging Het
Or7d10 A G 9: 19,831,667 (GRCm39) H54R probably benign Het
Pask A T 1: 93,258,588 (GRCm39) S253R probably benign Het
Pkd1 C A 17: 24,805,208 (GRCm39) H3253Q probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rapgef4 A G 2: 71,971,523 (GRCm39) probably benign Het
Rnf169 G T 7: 99,574,760 (GRCm39) R612S possibly damaging Het
Sclt1 A T 3: 41,672,278 (GRCm39) D104E probably benign Het
Shh G T 5: 28,666,369 (GRCm39) D172E probably damaging Het
Sil1 G T 18: 35,402,259 (GRCm39) probably benign Het
Slc19a3 A G 1: 82,992,557 (GRCm39) I388T probably damaging Het
Spink5 A G 18: 44,149,457 (GRCm39) Y946C probably damaging Het
Sulf1 A T 1: 12,878,168 (GRCm39) I219F probably damaging Het
Tcf3 T C 10: 80,248,879 (GRCm39) D529G probably damaging Het
Txnip G A 3: 96,466,934 (GRCm39) E203K probably damaging Het
Ubc G T 5: 125,465,327 (GRCm39) probably benign Het
Ubxn4 A T 1: 128,188,591 (GRCm39) probably null Het
Usp16 T C 16: 87,268,721 (GRCm39) V284A probably damaging Het
Vmn2r6 T A 3: 64,472,574 (GRCm39) N49I probably damaging Het
Ythdf1 A T 2: 180,553,339 (GRCm39) I292N probably damaging Het
Zfp128 A G 7: 12,624,044 (GRCm39) I137M probably benign Het
Other mutations in Cela2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0317:Cela2a UTSW 4 141,549,011 (GRCm39) critical splice donor site probably null
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
Posted On 2016-08-02