Incidental Mutation 'R2323:Cela2a'
ID266110
Institutional Source Beutler Lab
Gene Symbol Cela2a
Ensembl Gene ENSMUSG00000058579
Gene Namechymotrypsin-like elastase family, member 2A
SynonymsEla-2, Ela2, Ela2a
MMRRC Submission 040314-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.152) question?
Stock #R2323 (G1)
Quality Score165
Status Not validated
Chromosome4
Chromosomal Location141814962-141826160 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) G to C at 141826079 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000102481]
Predicted Effect probably benign
Transcript: ENSMUST00000102481
SMART Domains Protein: ENSMUSP00000099539
Gene: ENSMUSG00000058579

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Tryp_SPc 30 264 2.75e-95 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155826
Predicted Effect probably benign
Transcript: ENSMUST00000176781
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik T A 5: 90,584,852 Y507* probably null Het
Abca2 G T 2: 25,445,175 M2008I probably benign Het
Adgrv1 A G 13: 81,595,179 S68P probably damaging Het
Anks3 T C 16: 4,950,770 probably null Het
Asap2 T C 12: 21,203,968 I160T probably damaging Het
Asb15 T A 6: 24,556,601 F32I probably benign Het
Catip A T 1: 74,363,278 M103L probably benign Het
Crebrf T C 17: 26,763,607 probably benign Het
Dnah10 T C 5: 124,742,000 M450T probably damaging Het
Dst T C 1: 34,228,437 S5165P possibly damaging Het
Esrp2 T A 8: 106,134,302 D196V probably benign Het
Hmox2 A T 16: 4,765,856 K263* probably null Het
Ints10 A G 8: 68,819,345 H566R probably benign Het
Ints12 G A 3: 133,109,365 M444I possibly damaging Het
Liph A G 16: 21,984,004 V105A probably damaging Het
Myo1e T A 9: 70,378,758 Y941* probably null Het
Myo7b T C 18: 31,971,345 E1450G probably damaging Het
Myt1 G T 2: 181,806,557 A594S probably damaging Het
Npas3 T A 12: 54,068,346 Y666N probably damaging Het
Npsr1 A G 9: 24,300,436 K240E probably damaging Het
Olfr652 T C 7: 104,564,619 F133L probably benign Het
Rtkn2 A G 10: 68,001,934 I102M probably damaging Het
Rundc1 T C 11: 101,425,275 F58L probably damaging Het
Snrpc T G 17: 27,847,974 M91R unknown Het
Tgfbr2 T C 9: 116,110,144 K205R possibly damaging Het
Tmem181a T A 17: 6,295,786 L185H probably damaging Het
Tnfrsf21 C A 17: 43,085,529 S568* probably null Het
Tulp1 C T 17: 28,362,482 G239D probably damaging Het
Vmn1r234 T C 17: 21,229,703 I293T probably benign Het
Vmn1r26 T C 6: 58,008,857 K116E probably damaging Het
Vmn2r98 T A 17: 19,065,819 I193K probably benign Het
Wnk4 T A 11: 101,268,481 S575T probably damaging Het
Zfp558 A T 9: 18,469,277 probably null Het
Zscan18 T C 7: 12,775,459 probably benign Het
Other mutations in Cela2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03066:Cela2a APN 4 141821454 missense probably damaging 1.00
R0317:Cela2a UTSW 4 141821700 critical splice donor site probably null
R1372:Cela2a UTSW 4 141819094 missense probably damaging 1.00
R1619:Cela2a UTSW 4 141825941 critical splice donor site probably null
R1719:Cela2a UTSW 4 141817946 missense probably damaging 0.98
R2155:Cela2a UTSW 4 141818039 intron probably null
R4705:Cela2a UTSW 4 141821411 missense probably benign 0.00
R4851:Cela2a UTSW 4 141825591 missense probably benign 0.03
R4880:Cela2a UTSW 4 141822287 missense probably benign 0.01
R5704:Cela2a UTSW 4 141825988 intron probably benign
R5809:Cela2a UTSW 4 141825553 missense probably benign 0.00
R6710:Cela2a UTSW 4 141822243 missense probably damaging 1.00
RF011:Cela2a UTSW 4 141821715 missense probably benign
Z1176:Cela2a UTSW 4 141821391 missense probably damaging 1.00
Predicted Primers
Posted On2015-02-05