Incidental Mutation 'R7262:Cpvl'
ID 564685
Institutional Source Beutler Lab
Gene Symbol Cpvl
Ensembl Gene ENSMUSG00000052955
Gene Name carboxypeptidase, vitellogenic-like
Synonyms 4933436L16Rik
MMRRC Submission 045353-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R7262 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 53850264-53955656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53909500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 212 (V212D)
Ref Sequence ENSEMBL: ENSMUSP00000131462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166545] [ENSMUST00000203101] [ENSMUST00000204674]
AlphaFold Q9D3S9
Predicted Effect probably damaging
Transcript: ENSMUST00000166545
AA Change: V212D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131462
Gene: ENSMUSG00000052955
AA Change: V212D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Peptidase_S10 66 470 3.5e-106 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203101
AA Change: V212D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145288
Gene: ENSMUSG00000052955
AA Change: V212D

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 damaging
Transcript: ENSMUST00000204674
AA Change: V212D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144942
Gene: ENSMUSG00000052955
AA Change: V212D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Peptidase_S10 66 470 3.5e-106 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,946,137 (GRCm39) probably null Het
Adh5 C A 3: 138,151,133 (GRCm39) A32D possibly damaging Het
Ap1m2 A G 9: 21,213,762 (GRCm39) I295T possibly damaging Het
B230104I21Rik T C 4: 154,434,091 (GRCm39) S92P unknown Het
Carnmt1 A T 19: 18,655,228 (GRCm39) N127I probably benign Het
Ccdc42 A G 11: 68,485,399 (GRCm39) T106A probably damaging Het
Cdcp1 T C 9: 123,002,680 (GRCm39) E797G probably damaging Het
Cep112 T A 11: 108,555,467 (GRCm39) V821D probably damaging Het
Cttnbp2nl A T 3: 104,940,062 (GRCm39) N2K probably damaging Het
Cyp2c69 T C 19: 39,875,176 (GRCm39) probably benign Het
Cyp2u1 T C 3: 131,091,605 (GRCm39) D305G probably damaging Het
Dab2ip A G 2: 35,512,298 (GRCm39) probably null Het
Ddx55 T C 5: 124,704,919 (GRCm39) L396P probably benign Het
Dhx34 G A 7: 15,937,623 (GRCm39) A786V probably benign Het
Efcab3 G A 11: 104,745,432 (GRCm39) probably null Het
Ehbp1l1 A T 19: 5,768,474 (GRCm39) L943* probably null Het
Epm2aip1 A G 9: 111,101,728 (GRCm39) T234A probably benign Het
Flot2 T C 11: 77,948,175 (GRCm39) M145T probably damaging Het
Fn3k T C 11: 121,339,741 (GRCm39) F168L probably damaging Het
Gmfb A T 14: 47,052,386 (GRCm39) C87S probably damaging Het
H2-M3 T C 17: 37,582,084 (GRCm39) F180S probably damaging Het
Havcr2 C T 11: 46,360,388 (GRCm39) T205I probably benign Het
Hdac3 C T 18: 38,078,616 (GRCm39) C123Y probably damaging Het
Itpk1 T C 12: 102,641,712 (GRCm39) E37G possibly damaging Het
Jmjd7 A G 2: 119,862,467 (GRCm39) H283R probably benign Het
Kif26b T C 1: 178,745,219 (GRCm39) S1772P possibly damaging Het
Klhl6 T C 16: 19,801,546 (GRCm39) T70A probably damaging Het
Kntc1 C A 5: 123,925,036 (GRCm39) D1116E probably benign Het
Lama4 T A 10: 38,970,930 (GRCm39) H1498Q probably damaging Het
Lamp1 A T 8: 13,217,296 (GRCm39) T102S probably benign Het
Lrp8 A G 4: 107,704,661 (GRCm39) N168D probably benign Het
Ltbp1 G T 17: 75,671,363 (GRCm39) D1515Y probably damaging Het
Obscn A G 11: 59,006,715 (GRCm39) V1149A probably damaging Het
Or10q1 A T 19: 13,726,535 (GRCm39) T22S probably benign Het
Or4f6 A G 2: 111,838,902 (GRCm39) S210P probably damaging Het
Or52ad1 T C 7: 102,995,764 (GRCm39) R124G probably damaging Het
Pak4 C A 7: 28,264,625 (GRCm39) M92I possibly damaging Het
Pam T C 1: 97,782,448 (GRCm39) K157R Het
Pcdh9 A T 14: 93,253,141 (GRCm39) V1174E probably benign Het
Phf8-ps G A 17: 33,285,971 (GRCm39) T277I probably damaging Het
Ppp1r3a T C 6: 14,719,069 (GRCm39) D615G probably benign Het
Senp1 A T 15: 97,964,379 (GRCm39) D278E probably benign Het
Serpinc1 A G 1: 160,817,229 (GRCm39) N108D probably damaging Het
Srl C A 16: 4,315,415 (GRCm39) A76S probably damaging Het
Tbc1d16 C A 11: 119,045,921 (GRCm39) V509L probably benign Het
Tbc1d24 A G 17: 24,426,820 (GRCm39) F357S probably damaging Het
Tcaf3 A G 6: 42,570,735 (GRCm39) L339P probably damaging Het
Tmem232 A T 17: 65,807,112 (GRCm39) I27N probably benign Het
Ubr2 T C 17: 47,311,665 (GRCm39) D62G probably damaging Het
Vcan T G 13: 89,853,280 (GRCm39) D560A possibly damaging Het
Vmn2r80 T A 10: 79,005,579 (GRCm39) N405K probably damaging Het
Wdhd1 A T 14: 47,489,430 (GRCm39) I701K probably benign 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
R1987:Cpvl UTSW 6 53,931,596 (GRCm39) missense probably benign 0.01
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
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'- AACAAATTTGGCCTCTGGGG -3'
(R):5'- CACATCACTTGGGCCATATGGTG -3'

Sequencing Primer
(F):5'- AGGAGGGATGTTCGTTCAATTCAAG -3'
(R):5'- CTTGGGCCATATGGTGTAAGAATAG -3'
Posted On 2019-06-26