Incidental Mutation 'R7773:Cpvl'
ID 598705
Institutional Source Beutler Lab
Gene Symbol Cpvl
Ensembl Gene ENSMUSG00000052955
Gene Name carboxypeptidase, vitellogenic-like
Synonyms 4933436L16Rik
MMRRC Submission 045829-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R7773 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 53850264-53955656 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 53908890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166545] [ENSMUST00000203101] [ENSMUST00000204674]
AlphaFold Q9D3S9
Predicted Effect probably null
Transcript: ENSMUST00000166545
SMART Domains Protein: ENSMUSP00000131462
Gene: ENSMUSG00000052955

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Peptidase_S10 66 470 3.5e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203101
SMART Domains Protein: ENSMUSP00000145288
Gene: ENSMUSG00000052955

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 null
Transcript: ENSMUST00000204674
SMART Domains Protein: ENSMUSP00000144942
Gene: ENSMUSG00000052955

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,206,180 (GRCm39) I336T probably benign Het
4930519P11Rik T C 2: 154,455,107 (GRCm39) Y84C unknown Het
4930568D16Rik C T 2: 35,244,606 (GRCm39) G249S probably damaging Het
AAdacl4fm3 A T 4: 144,430,047 (GRCm39) L314Q probably damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agbl1 T A 7: 76,348,585 (GRCm39) V894E unknown Het
Amigo3 T C 9: 107,931,867 (GRCm39) L430P probably benign Het
Aoc1 A G 6: 48,883,146 (GRCm39) I341V probably benign Het
Bod1l A G 5: 41,990,055 (GRCm39) S223P probably benign Het
Cacnb3 T C 15: 98,537,819 (GRCm39) probably null Het
Ccdc63 G T 5: 122,247,335 (GRCm39) N503K probably damaging Het
Ccdc83 T A 7: 89,879,120 (GRCm39) I225F probably damaging Het
Cd200r1 A G 16: 44,610,050 (GRCm39) T90A possibly damaging Het
Cd8a A G 6: 71,350,799 (GRCm39) N88S probably benign Het
Cep170 A G 1: 176,567,642 (GRCm39) V152A Het
Chid1 T C 7: 141,109,518 (GRCm39) M123V probably benign Het
Cnnm4 T C 1: 36,538,603 (GRCm39) V595A probably benign Het
Coro7 A G 16: 4,449,870 (GRCm39) L630P probably damaging Het
Edem3 A T 1: 151,687,347 (GRCm39) K762* probably null Het
Elp6 T A 9: 110,141,627 (GRCm39) probably null Het
Emilin3 A T 2: 160,752,718 (GRCm39) Y77* probably null Het
Fam234b T A 6: 135,220,912 (GRCm39) I641N probably benign Het
Farsa T C 8: 85,590,781 (GRCm39) probably null Het
Foxf2 T C 13: 31,811,182 (GRCm39) S374P probably benign Het
Gm11596 A T 11: 99,683,667 (GRCm39) I151N unknown Het
Gm9817 C T 13: 45,232,427 (GRCm39) Q77* probably null Het
Gon4l A G 3: 88,803,102 (GRCm39) K1238E probably benign Het
H13 A G 2: 152,537,431 (GRCm39) Y292C probably damaging Het
Hip1r A G 5: 124,139,504 (GRCm39) N928S probably benign Het
Iqcf4 T C 9: 106,445,812 (GRCm39) N112D probably benign Het
Jak3 A C 8: 72,131,686 (GRCm39) T125P probably benign Het
Krt7 A C 15: 101,311,913 (GRCm39) K124Q possibly damaging Het
Ldc1 T C 4: 130,114,169 (GRCm39) N83D probably damaging Het
Lrrc66 G A 5: 73,764,664 (GRCm39) S793F probably damaging Het
Mycbp2 C T 14: 103,485,840 (GRCm39) V1074I probably damaging Het
Nckap5 T C 1: 125,954,581 (GRCm39) D657G probably benign Het
Nt5el A G 13: 105,218,793 (GRCm39) I42M probably damaging Het
Or5b113 T A 19: 13,342,598 (GRCm39) V202E probably benign Het
Or8k21 T C 2: 86,145,034 (GRCm39) I199V probably benign Het
Osbpl7 A G 11: 96,941,548 (GRCm39) S24G probably benign Het
Pcm1 G T 8: 41,762,610 (GRCm39) E1385* probably null Het
Poc5 A G 13: 96,547,143 (GRCm39) T469A probably damaging Het
Ppp3ca A G 3: 136,596,222 (GRCm39) T296A probably benign Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Rnf149 A C 1: 39,604,299 (GRCm39) M188R possibly damaging Het
Rpl10l T C 12: 66,331,041 (GRCm39) I31V probably benign Het
Serinc5 T C 13: 92,797,592 (GRCm39) S32P probably damaging Het
Sirt1 T A 10: 63,162,562 (GRCm39) K137M possibly damaging Het
Smc4 A G 3: 68,923,496 (GRCm39) Y251C probably damaging Het
Sod3 A C 5: 52,525,643 (GRCm39) E114A possibly damaging Het
Tgfbr3 A G 5: 107,288,368 (GRCm39) V431A probably benign Het
Tlr4 T C 4: 66,757,836 (GRCm39) S210P probably damaging Het
Trub2 G T 2: 29,676,520 (GRCm39) T70N probably benign Het
Tsga10 A T 1: 37,874,323 (GRCm39) C159S unknown Het
Vmn1r15 A T 6: 57,235,644 (GRCm39) I171F probably benign Het
Vmn2r50 T A 7: 9,771,562 (GRCm39) H713L possibly damaging Het
Zcchc14 T C 8: 122,378,514 (GRCm39) S43G unknown Het
Zfp638 T C 6: 83,956,196 (GRCm39) I1601T probably 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
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
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
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'- CAGCCTAAGTGAACTCAGAGG -3'
(R):5'- AGGTCAATTGTTTCTTCTTGAAGCC -3'

Sequencing Primer
(F):5'- CTAAGTGAACTCAGAGGCGTGC -3'
(R):5'- AAGGGCGCCCAACCTTCTC -3'
Posted On 2019-11-26