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
Is this an essential gene? Probably non essential (E-score: 0.091) 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
Posted On 2016-08-02