Incidental Mutation 'R6872:Cpa5'
ID 536203
Institutional Source Beutler Lab
Gene Symbol Cpa5
Ensembl Gene ENSMUSG00000029788
Gene Name carboxypeptidase A5
Synonyms 4930430M09Rik
MMRRC Submission 044969-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R6872 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 30611009-30631744 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30614053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 65 (Q65L)
Ref Sequence ENSEMBL: ENSMUSP00000110792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062758] [ENSMUST00000115138] [ENSMUST00000115139] [ENSMUST00000165949]
AlphaFold Q8R4H4
Predicted Effect probably benign
Transcript: ENSMUST00000062758
AA Change: Q65L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000057722
Gene: ENSMUSG00000029788
AA Change: Q65L

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: Q65L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000110791
Gene: ENSMUSG00000029788
AA Change: Q65L

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: Q65L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110792
Gene: ENSMUSG00000029788
AA Change: Q65L

DomainStartEndE-ValueType
Pfam:Propep_M14 43 118 4.6e-25 PFAM
Zn_pept 139 419 4.83e-125 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165949
AA Change: Q65L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000126436
Gene: ENSMUSG00000029788
AA Change: Q65L

DomainStartEndE-ValueType
Pfam:Propep_M14 43 118 6.4e-26 PFAM
Zn_pept 139 309 3.6e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,349,750 (GRCm39) V336I probably benign Het
Aadacl4fm4 A T 4: 144,397,216 (GRCm39) L172* probably null Het
Abcg3 T C 5: 105,083,860 (GRCm39) T637A probably benign Het
Ap3d1 G A 10: 80,550,156 (GRCm39) R692* probably null Het
Aqp2 C T 15: 99,481,885 (GRCm39) H260Y probably benign Het
Btbd2 C A 10: 80,480,166 (GRCm39) R383L probably damaging Het
Ccdc196 T A 12: 78,244,141 (GRCm39) D31E probably damaging Het
Ccdc24 T C 4: 117,727,123 (GRCm39) T196A probably benign Het
Cdc20b G A 13: 113,220,509 (GRCm39) G463S probably damaging Het
Ceacam5 A T 7: 17,486,212 (GRCm39) R570* probably null Het
Col12a1 A T 9: 79,584,516 (GRCm39) N1357K probably damaging Het
Ddo A C 10: 40,513,414 (GRCm39) M119L possibly damaging Het
Dnah8 G T 17: 30,981,653 (GRCm39) L3058F probably damaging Het
Dnajb8 A G 6: 88,200,022 (GRCm39) N186S probably damaging Het
Dock4 T C 12: 40,862,325 (GRCm39) probably null Het
Ear6 A G 14: 52,091,885 (GRCm39) Y144C probably damaging Het
Eng T A 2: 32,563,287 (GRCm39) I281N probably damaging Het
Fgf2 A G 3: 37,458,860 (GRCm39) K85E probably damaging Het
Fubp1 A T 3: 151,931,783 (GRCm39) Q37L probably benign Het
Gabra2 G T 5: 71,251,882 (GRCm39) P22T probably damaging Het
Gm10401 T C 5: 115,236,245 (GRCm39) probably benign Het
Gsdmc T C 15: 63,650,556 (GRCm39) D275G possibly damaging Het
Iglv3 A G 16: 19,060,034 (GRCm39) I98T probably damaging Het
Lmod1 G T 1: 135,292,879 (GRCm39) R578L probably damaging Het
Mindy2 A G 9: 70,524,044 (GRCm39) probably null Het
Neb G T 2: 52,183,657 (GRCm39) Q1004K probably damaging Het
Nkx2-9 T G 12: 56,658,674 (GRCm39) N180T probably benign Het
Nlrp2 C T 7: 5,311,709 (GRCm39) R922H probably benign Het
Nol4l T C 2: 153,325,737 (GRCm39) E116G probably damaging Het
Or1af1 A T 2: 37,109,989 (GRCm39) M163L possibly damaging Het
Or5ac19 A G 16: 59,089,961 (GRCm39) L23P probably benign Het
Pcdhb20 A C 18: 37,639,218 (GRCm39) E581D probably benign Het
Pidd1 G T 7: 141,019,331 (GRCm39) T750K probably benign Het
Rab44 A G 17: 29,358,784 (GRCm39) E324G probably benign Het
Ramp3 T C 11: 6,624,768 (GRCm39) C21R possibly damaging Het
Rpap1 A C 2: 119,605,850 (GRCm39) M345R probably damaging Het
Serpina3k A C 12: 104,310,519 (GRCm39) K350Q probably benign Het
St13 C T 15: 81,250,547 (GRCm39) probably null Het
Stard9 A T 2: 120,544,549 (GRCm39) K4497* probably null Het
Tbx19 A T 1: 164,975,202 (GRCm39) probably null Het
Tgoln1 A G 6: 72,592,538 (GRCm39) V314A possibly damaging Het
Them4 A T 3: 94,231,678 (GRCm39) I172F probably damaging Het
Tmc7 T A 7: 118,146,846 (GRCm39) Y477F probably benign Het
Tmem132a A G 19: 10,840,669 (GRCm39) L421P probably damaging Het
Trim69 A G 2: 121,998,391 (GRCm39) E121G probably damaging Het
Vmn2r11 T G 5: 109,194,976 (GRCm39) R783S possibly damaging Het
Vmn2r62 T A 7: 42,438,412 (GRCm39) L141F probably benign Het
Zbtb7a A G 10: 80,983,905 (GRCm39) N449S possibly damaging Het
Zfhx3 C T 8: 109,527,273 (GRCm39) R1057W probably damaging Het
Zfp180 G T 7: 23,805,306 (GRCm39) C575F probably damaging Het
Zfp462 G A 4: 55,012,326 (GRCm39) A1431T probably benign Het
Zfp592 T C 7: 80,673,576 (GRCm39) V180A probably benign Het
Zfp605 C T 5: 110,275,311 (GRCm39) P143L probably benign Het
Zfp646 T C 7: 127,482,505 (GRCm39) S1561P probably benign Het
Zfp706 T C 15: 37,002,190 (GRCm39) T46A possibly damaging Het
Other mutations in Cpa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01757:Cpa5 APN 6 30,625,926 (GRCm39) splice site probably benign
IGL02577:Cpa5 APN 6 30,626,807 (GRCm39) splice site probably benign
IGL03148:Cpa5 APN 6 30,630,436 (GRCm39) missense probably damaging 1.00
IGL03341:Cpa5 APN 6 30,626,290 (GRCm39) missense possibly damaging 0.57
R0836:Cpa5 UTSW 6 30,623,210 (GRCm39) missense probably damaging 1.00
R1437:Cpa5 UTSW 6 30,624,654 (GRCm39) missense probably damaging 1.00
R2146:Cpa5 UTSW 6 30,626,821 (GRCm39) missense probably damaging 1.00
R2285:Cpa5 UTSW 6 30,615,063 (GRCm39) missense probably benign 0.09
R2334:Cpa5 UTSW 6 30,624,605 (GRCm39) nonsense probably null
R4081:Cpa5 UTSW 6 30,631,228 (GRCm39) missense probably benign 0.02
R4454:Cpa5 UTSW 6 30,626,323 (GRCm39) missense possibly damaging 0.84
R4483:Cpa5 UTSW 6 30,624,625 (GRCm39) missense probably damaging 1.00
R4758:Cpa5 UTSW 6 30,615,159 (GRCm39) missense possibly damaging 0.67
R4771:Cpa5 UTSW 6 30,612,684 (GRCm39) nonsense probably null
R4953:Cpa5 UTSW 6 30,631,363 (GRCm39) missense possibly damaging 0.84
R5053:Cpa5 UTSW 6 30,623,271 (GRCm39) missense probably damaging 1.00
R5392:Cpa5 UTSW 6 30,630,829 (GRCm39) nonsense probably null
R5593:Cpa5 UTSW 6 30,630,848 (GRCm39) missense probably benign 0.10
R5745:Cpa5 UTSW 6 30,630,436 (GRCm39) missense probably damaging 1.00
R5900:Cpa5 UTSW 6 30,615,115 (GRCm39) missense probably damaging 1.00
R6264:Cpa5 UTSW 6 30,613,984 (GRCm39) missense probably damaging 1.00
R6268:Cpa5 UTSW 6 30,615,172 (GRCm39) missense probably damaging 1.00
R6376:Cpa5 UTSW 6 30,614,044 (GRCm39) missense probably benign
R6634:Cpa5 UTSW 6 30,626,363 (GRCm39) missense probably damaging 1.00
R6814:Cpa5 UTSW 6 30,614,053 (GRCm39) missense probably benign 0.03
R6989:Cpa5 UTSW 6 30,625,891 (GRCm39) missense probably benign 0.06
R7205:Cpa5 UTSW 6 30,630,829 (GRCm39) missense probably benign
R7499:Cpa5 UTSW 6 30,630,856 (GRCm39) missense possibly damaging 0.81
R7864:Cpa5 UTSW 6 30,631,394 (GRCm39) missense probably damaging 0.97
R8170:Cpa5 UTSW 6 30,624,594 (GRCm39) missense probably benign 0.35
R9027:Cpa5 UTSW 6 30,612,604 (GRCm39) start codon destroyed probably null 0.88
R9395:Cpa5 UTSW 6 30,631,280 (GRCm39) missense probably damaging 1.00
R9607:Cpa5 UTSW 6 30,626,338 (GRCm39) missense probably damaging 1.00
R9687:Cpa5 UTSW 6 30,614,041 (GRCm39) missense probably benign
R9794:Cpa5 UTSW 6 30,625,920 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCTTCTGTTATGTGCCAGGG -3'
(R):5'- AGGAATCACAGCTTACAAAGGC -3'

Sequencing Primer
(F):5'- AGGGCTCCTTCACTTCAGTG -3'
(R):5'- TTACAAAGGCCACCCAAATTTATGG -3'
Posted On 2018-10-18