Incidental Mutation 'R1987:Cpvl'
ID 222645
Institutional Source Beutler Lab
Gene Symbol Cpvl
Ensembl Gene ENSMUSG00000052955
Gene Name carboxypeptidase, vitellogenic-like
Synonyms 4933436L16Rik
MMRRC Submission 039999-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R1987 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 53850264-53955656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53931596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 103 (D103V)
Ref Sequence ENSEMBL: ENSMUSP00000144942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166545] [ENSMUST00000203101] [ENSMUST00000204674]
AlphaFold Q9D3S9
Predicted Effect probably benign
Transcript: ENSMUST00000166545
AA Change: D103V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000131462
Gene: ENSMUSG00000052955
AA Change: D103V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Peptidase_S10 66 470 3.5e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203101
AA Change: D103V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000145288
Gene: ENSMUSG00000052955
AA Change: D103V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Peptidase_S10 66 266 3.8e-68 PFAM
Pfam:Peptidase_S10 262 426 5.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204674
AA Change: D103V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000144942
Gene: ENSMUSG00000052955
AA Change: D103V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Peptidase_S10 66 470 3.5e-106 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the serine carboxypeptidase family of proteases that cleave amino acids from the C-terminus of a protein substrate. The human ortholog of this gene, where it was first characterized, was found to be upregulated during the maturation of monocytes to macrophages. The encoded protein may be involved in antigen processing, digestion of phagocytosed proteins in the lysosome and lamellipodium formation. Disruption of this gene in mice was found to cause embryonic lethality. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a transposon insertion allele die prior to birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A T 19: 8,992,615 (GRCm39) D4633V probably damaging Het
Akap6 T C 12: 53,187,578 (GRCm39) F1664S possibly damaging Het
Arhgef28 T C 13: 98,103,604 (GRCm39) M803V probably benign Het
Bltp1 T A 3: 37,008,134 (GRCm39) probably null Het
Bltp2 A T 11: 78,158,993 (GRCm39) Q433L probably damaging Het
Ccdc73 T A 2: 104,761,390 (GRCm39) L130* probably null Het
Ccdc73 A G 2: 104,829,504 (GRCm39) E1059G probably damaging Het
Ccer2 A C 7: 28,456,708 (GRCm39) S151R possibly damaging Het
Cep128 T A 12: 91,197,603 (GRCm39) H406L probably benign Het
Cep135 A G 5: 76,745,275 (GRCm39) D229G probably benign Het
Crppa T A 12: 36,571,995 (GRCm39) L301Q probably damaging Het
Cstdc6 C A 16: 36,142,194 (GRCm39) G61C probably damaging Het
Disp3 G A 4: 148,343,210 (GRCm39) A567V probably damaging Het
Dnah5 T C 15: 28,343,737 (GRCm39) I2379T probably damaging Het
Dnah6 T C 6: 73,072,027 (GRCm39) Y2433C probably damaging Het
Dock3 A G 9: 106,985,620 (GRCm39) I85T probably benign Het
Dock9 A C 14: 121,829,242 (GRCm39) S1380A probably benign Het
Erbin T C 13: 104,022,711 (GRCm39) T43A probably benign Het
Fastkd3 T C 13: 68,733,360 (GRCm39) V502A possibly damaging Het
Fn1 T C 1: 71,690,784 (GRCm39) H59R probably damaging Het
Fsd2 A G 7: 81,209,407 (GRCm39) V145A possibly damaging Het
Fzr1 A G 10: 81,206,153 (GRCm39) V178A probably damaging Het
Gnpnat1 T C 14: 45,618,455 (GRCm39) R116G probably damaging Het
Grm7 T A 6: 110,891,472 (GRCm39) V235E probably damaging Het
Hdac4 A C 1: 91,862,367 (GRCm39) N1002K probably damaging Het
Hey1 C T 3: 8,729,957 (GRCm39) A167T probably benign Het
Hrnr A G 3: 93,239,911 (GRCm39) N3383S unknown Het
Ints2 A T 11: 86,108,626 (GRCm39) V907D probably benign Het
Jchain T A 5: 88,669,326 (GRCm39) Q109L probably damaging Het
Klhdc7a A T 4: 139,693,335 (GRCm39) Y537* probably null Het
Klra1 C T 6: 130,354,742 (GRCm39) S92N probably benign Het
Krt31 C T 11: 99,940,406 (GRCm39) G150S probably benign Het
Lrrc71 G A 3: 87,649,950 (GRCm39) T326M probably benign Het
Lrrn4 T C 2: 132,712,363 (GRCm39) T487A probably benign Het
Map4k5 T G 12: 69,889,686 (GRCm39) R198S probably damaging Het
Men1 G A 19: 6,388,867 (GRCm39) C354Y probably damaging Het
Ms4a18 A T 19: 10,991,019 (GRCm39) V25E probably damaging Het
Mutyh T A 4: 116,676,565 (GRCm39) S512R possibly damaging Het
Myh10 G T 11: 68,705,322 (GRCm39) A1947S possibly damaging Het
Nfasc T C 1: 132,538,624 (GRCm39) D427G probably damaging Het
Nlrp9c A G 7: 26,077,481 (GRCm39) M767T probably benign Het
Nrbp1 T C 5: 31,402,735 (GRCm39) L185P probably damaging Het
Pcdh9 G A 14: 94,125,741 (GRCm39) P143L probably damaging Het
Pcsk6 A T 7: 65,577,035 (GRCm39) M158L possibly damaging Het
Pkd1 G T 17: 24,795,566 (GRCm39) probably null Het
Plk4 A T 3: 40,760,252 (GRCm39) S383C possibly damaging Het
Plxna2 T C 1: 194,326,297 (GRCm39) L77P probably damaging Het
Pnpla6 A T 8: 3,592,370 (GRCm39) T1209S probably benign Het
Prdm2 A G 4: 142,859,079 (GRCm39) S1404P possibly damaging Het
Preb T C 5: 31,116,157 (GRCm39) D150G probably damaging Het
Prrt2 A G 7: 126,617,902 (GRCm39) V59A probably benign Het
Prss40 T C 1: 34,597,095 (GRCm39) N151S possibly damaging Het
Ptprt G T 2: 161,400,818 (GRCm39) A1053D probably damaging Het
Ptprt A G 2: 161,608,241 (GRCm39) V685A possibly damaging Het
Rfx4 C T 10: 84,731,952 (GRCm39) S549F possibly damaging Het
Rnaset2b T A 17: 7,263,876 (GRCm39) V87E probably benign Het
Rnf213 G A 11: 119,331,933 (GRCm39) E2381K probably damaging Het
Sectm1a A T 11: 120,960,506 (GRCm39) I103N probably damaging Het
Selp T A 1: 163,970,327 (GRCm39) L597Q probably damaging Het
Sema6a T C 18: 47,433,209 (GRCm39) D74G probably damaging Het
Serpinb9b T C 13: 33,213,542 (GRCm39) V33A probably benign Het
Setd1b A T 5: 123,285,769 (GRCm39) T272S unknown Het
Sgf29 G C 7: 126,248,649 (GRCm39) probably null Het
Slc4a10 C A 2: 62,098,548 (GRCm39) Q561K probably damaging Het
Slc4a5 T C 6: 83,250,214 (GRCm39) I649T possibly damaging Het
Slc5a7 A G 17: 54,600,863 (GRCm39) Y91H probably damaging Het
Styxl1 T C 5: 135,785,976 (GRCm39) Y23C probably damaging Het
Tbc1d24 A G 17: 24,425,846 (GRCm39) V490A possibly damaging Het
Tbpl2 A T 2: 23,984,744 (GRCm39) F133L probably benign Het
Tnfrsf22 T C 7: 143,192,126 (GRCm39) probably benign Het
Top2b A G 14: 16,398,916 (GRCm38) E512G probably damaging Het
Trgc3 C A 13: 19,445,164 (GRCm39) F37L probably damaging Het
Ttc17 T A 2: 94,194,690 (GRCm39) H561L probably benign Het
Ttll4 G T 1: 74,724,527 (GRCm39) V566L possibly damaging Het
Ubqlnl A G 7: 103,797,692 (GRCm39) Y602H probably benign Het
Vmn1r231 T A 17: 21,110,212 (GRCm39) E234D probably damaging Het
Wbp11 A G 6: 136,797,583 (GRCm39) S279P probably damaging Het
Wdr6 A G 9: 108,453,733 (GRCm39) L50P probably damaging Het
Zfp715 A C 7: 42,948,073 (GRCm39) I629S possibly damaging Het
Other mutations in Cpvl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Cpvl APN 6 53,951,640 (GRCm39) missense possibly damaging 0.92
IGL01340:Cpvl APN 6 53,873,436 (GRCm39) nonsense probably null
IGL02596:Cpvl APN 6 53,908,995 (GRCm39) missense probably damaging 1.00
PIT4472001:Cpvl UTSW 6 53,873,464 (GRCm39) missense possibly damaging 0.69
R0242:Cpvl UTSW 6 53,909,485 (GRCm39) missense possibly damaging 0.95
R0242:Cpvl UTSW 6 53,909,485 (GRCm39) missense possibly damaging 0.95
R1586:Cpvl UTSW 6 53,903,886 (GRCm39) missense probably damaging 1.00
R4609:Cpvl UTSW 6 53,951,605 (GRCm39) critical splice donor site probably null
R4664:Cpvl UTSW 6 53,908,918 (GRCm39) missense probably benign 0.00
R4665:Cpvl UTSW 6 53,908,918 (GRCm39) missense probably benign 0.00
R4666:Cpvl UTSW 6 53,908,918 (GRCm39) missense probably benign 0.00
R5863:Cpvl UTSW 6 53,850,413 (GRCm39) missense probably damaging 0.99
R5909:Cpvl UTSW 6 53,909,413 (GRCm39) missense probably damaging 0.98
R6163:Cpvl UTSW 6 53,850,503 (GRCm39) missense probably damaging 1.00
R6948:Cpvl UTSW 6 53,873,468 (GRCm39) missense possibly damaging 0.94
R7023:Cpvl UTSW 6 53,944,797 (GRCm39) missense probably benign 0.00
R7262:Cpvl UTSW 6 53,909,500 (GRCm39) missense probably damaging 1.00
R7330:Cpvl UTSW 6 53,951,744 (GRCm39) missense probably benign 0.43
R7488:Cpvl UTSW 6 53,924,727 (GRCm39) missense probably damaging 1.00
R7694:Cpvl UTSW 6 53,909,502 (GRCm39) nonsense probably null
R7728:Cpvl UTSW 6 53,902,275 (GRCm39) missense probably benign 0.00
R7750:Cpvl UTSW 6 53,903,886 (GRCm39) missense probably damaging 1.00
R7768:Cpvl UTSW 6 53,873,476 (GRCm39) missense possibly damaging 0.91
R7773:Cpvl UTSW 6 53,908,890 (GRCm39) critical splice donor site probably null
R7868:Cpvl UTSW 6 53,951,745 (GRCm39) missense possibly damaging 0.64
R8670:Cpvl UTSW 6 53,951,780 (GRCm39) start codon destroyed probably null 0.69
R9228:Cpvl UTSW 6 53,951,779 (GRCm39) start codon destroyed probably null 0.00
R9337:Cpvl UTSW 6 53,909,479 (GRCm39) missense probably damaging 1.00
X0062:Cpvl UTSW 6 53,903,837 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TATGATCTGGAGCCATTCTGCTAC -3'
(R):5'- TTGGGGCACATGTAAATCCC -3'

Sequencing Primer
(F):5'- GAGCCATTCTGCTACTCCTAGTGG -3'
(R):5'- TTGGGGCACATGTAAATCCCAAATAG -3'
Posted On 2014-08-25