Incidental Mutation 'IGL03341:Cpa5'
ID 417213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpa5
Ensembl Gene ENSMUSG00000029788
Gene Name carboxypeptidase A5
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL03341
Quality Score
Status
Chromosome 6
Chromosomal Location 30611010-30631745 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30626291 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 217 (Y217C)
Ref Sequence ENSEMBL: ENSMUSP00000126436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062758] [ENSMUST00000115138] [ENSMUST00000115139] [ENSMUST00000165949]
AlphaFold Q8R4H4
Predicted Effect probably benign
Transcript: ENSMUST00000062758
AA Change: Y217C

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000057722
Gene: ENSMUSG00000029788
AA Change: Y217C

DomainStartEndE-ValueType
Pfam:Propep_M14 43 117 5.6e-23 PFAM
Zn_pept 139 419 4.83e-125 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115138
AA Change: Y217C

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110791
Gene: ENSMUSG00000029788
AA Change: Y217C

DomainStartEndE-ValueType
Pfam:Propep_M14 43 118 9.9e-26 PFAM
Zn_pept 139 395 4.62e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115139
AA Change: Y217C

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110792
Gene: ENSMUSG00000029788
AA Change: Y217C

DomainStartEndE-ValueType
Pfam:Propep_M14 43 118 4.6e-25 PFAM
Zn_pept 139 419 4.83e-125 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165949
AA Change: Y217C

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126436
Gene: ENSMUSG00000029788
AA Change: Y217C

DomainStartEndE-ValueType
Pfam:Propep_M14 43 118 6.4e-26 PFAM
Zn_pept 139 309 3.6e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. This gene is expressed in mouse testes where the encoded protein is localized to the germ cells. This gene is located in a cluster of carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C T 2: 35,375,894 V255I possibly damaging Het
Acvrl1 T A 15: 101,137,596 N334K probably damaging Het
Arhgef5 T A 6: 43,280,651 I1284N probably damaging Het
Asns C A 6: 7,682,002 R236L probably damaging Het
Barx2 T C 9: 31,858,794 E146G probably damaging Het
Ccl7 A G 11: 82,045,835 S18G probably benign Het
Cilp A T 9: 65,278,002 T460S probably benign Het
Dgkh T A 14: 78,595,491 probably benign Het
Dmc1 T C 15: 79,562,545 T276A probably benign Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
Gstm2 T C 3: 107,984,205 Y93C possibly damaging Het
Hc A T 2: 35,003,377 I1274N probably damaging Het
Htra1 A G 7: 130,981,714 I355V probably benign Het
Ifi214 G T 1: 173,526,516 T196K possibly damaging Het
Ms4a5 T C 19: 11,279,378 T52A probably benign Het
Mtx3 T C 13: 92,847,883 F191L probably damaging Het
Padi2 A G 4: 140,927,113 M192V probably benign Het
Pdcl3 C A 1: 38,995,895 Q178K probably benign Het
Rap1gap2 G A 11: 74,435,714 R176W probably damaging Het
Ska2 A G 11: 87,116,164 T32A probably benign Het
Slc6a18 G T 13: 73,677,923 Q3K probably benign Het
Slc7a14 T C 3: 31,238,770 Y122C probably damaging Het
Svep1 T A 4: 58,070,308 K2493* probably null Het
Trpm6 T A 19: 18,813,486 N628K probably benign Het
Ttc17 T A 2: 94,375,221 N260I probably damaging Het
Ttc7b T C 12: 100,325,735 I193V possibly damaging Het
Ttn T A 2: 76,712,239 T25141S possibly damaging Het
Zfhx4 A C 3: 5,411,850 Q3150P probably damaging Het
Other mutations in Cpa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01757:Cpa5 APN 6 30625927 splice site probably benign
IGL02577:Cpa5 APN 6 30626808 splice site probably benign
IGL03148:Cpa5 APN 6 30630437 missense probably damaging 1.00
R0836:Cpa5 UTSW 6 30623211 missense probably damaging 1.00
R1437:Cpa5 UTSW 6 30624655 missense probably damaging 1.00
R2146:Cpa5 UTSW 6 30626822 missense probably damaging 1.00
R2285:Cpa5 UTSW 6 30615064 missense probably benign 0.09
R2334:Cpa5 UTSW 6 30624606 nonsense probably null
R4081:Cpa5 UTSW 6 30631229 missense probably benign 0.02
R4454:Cpa5 UTSW 6 30626324 missense possibly damaging 0.84
R4483:Cpa5 UTSW 6 30624626 missense probably damaging 1.00
R4758:Cpa5 UTSW 6 30615160 missense possibly damaging 0.67
R4771:Cpa5 UTSW 6 30612685 nonsense probably null
R4953:Cpa5 UTSW 6 30631364 missense possibly damaging 0.84
R5053:Cpa5 UTSW 6 30623272 missense probably damaging 1.00
R5392:Cpa5 UTSW 6 30630830 nonsense probably null
R5593:Cpa5 UTSW 6 30630849 missense probably benign 0.10
R5745:Cpa5 UTSW 6 30630437 missense probably damaging 1.00
R5900:Cpa5 UTSW 6 30615116 missense probably damaging 1.00
R6264:Cpa5 UTSW 6 30613985 missense probably damaging 1.00
R6268:Cpa5 UTSW 6 30615173 missense probably damaging 1.00
R6376:Cpa5 UTSW 6 30614045 missense probably benign
R6634:Cpa5 UTSW 6 30626364 missense probably damaging 1.00
R6814:Cpa5 UTSW 6 30614054 missense probably benign 0.03
R6872:Cpa5 UTSW 6 30614054 missense probably benign 0.03
R6989:Cpa5 UTSW 6 30625892 missense probably benign 0.06
R7205:Cpa5 UTSW 6 30630830 missense probably benign
R7499:Cpa5 UTSW 6 30630857 missense possibly damaging 0.81
R7864:Cpa5 UTSW 6 30631395 missense probably damaging 0.97
R8170:Cpa5 UTSW 6 30624595 missense probably benign 0.35
R9027:Cpa5 UTSW 6 30612605 start codon destroyed probably null 0.88
R9395:Cpa5 UTSW 6 30631281 missense probably damaging 1.00
R9607:Cpa5 UTSW 6 30626339 missense probably damaging 1.00
R9687:Cpa5 UTSW 6 30614042 missense probably benign
R9794:Cpa5 UTSW 6 30625921 critical splice donor site probably null
Posted On 2016-08-02