Incidental Mutation 'IGL01338:Cpvl'
ID74725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpvl
Ensembl Gene ENSMUSG00000052955
Gene Namecarboxypeptidase, vitellogenic-like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL01338
Quality Score
Status
Chromosome6
Chromosomal Location53873279-53978671 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 53974655 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 48 (S48C)
Ref Sequence ENSEMBL: ENSMUSP00000144942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166545] [ENSMUST00000203101] [ENSMUST00000204674]
Predicted Effect possibly damaging
Transcript: ENSMUST00000166545
AA Change: S48C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131462
Gene: ENSMUSG00000052955
AA Change: S48C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Peptidase_S10 66 470 3.5e-106 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203101
AA Change: S48C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145288
Gene: ENSMUSG00000052955
AA Change: S48C

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 noncoding transcript
Transcript: ENSMUST00000203792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204478
Predicted Effect possibly damaging
Transcript: ENSMUST00000204674
AA Change: S48C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144942
Gene: ENSMUSG00000052955
AA Change: S48C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Peptidase_S10 66 470 3.5e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204733
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik T C 16: 90,926,048 N266S possibly damaging Het
Adam23 A G 1: 63,551,855 T494A possibly damaging Het
Adamts16 C T 13: 70,836,115 C143Y probably damaging Het
Cacna1i A G 15: 80,348,380 I195V probably damaging Het
Casp7 T C 19: 56,404,464 S17P probably benign Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cyp2b19 G T 7: 26,759,417 M138I probably benign Het
Dennd5a T C 7: 109,919,404 Y510C possibly damaging Het
Derl2 A G 11: 71,010,355 F229S possibly damaging Het
Dlec1 A G 9: 119,120,911 E452G probably damaging Het
Dsc2 T C 18: 20,047,157 K180E probably benign Het
Dus1l G A 11: 120,793,092 R177C possibly damaging Het
Egfr A G 11: 16,863,020 I167V probably damaging Het
Fam219b A T 9: 57,538,022 probably null Het
Fn1 T C 1: 71,626,210 E916G probably damaging Het
Gm2058 C T 7: 39,589,156 noncoding transcript Het
Gpd1 T A 15: 99,718,175 V22E probably damaging Het
Hsf2 T C 10: 57,501,379 F124L probably damaging Het
I0C0044D17Rik A G 4: 98,820,099 probably benign Het
Igfbp3 A T 11: 7,208,478 F262I possibly damaging Het
Klhl18 A G 9: 110,455,433 Y62H probably damaging Het
Lama2 C T 10: 27,188,272 E1238K probably benign Het
Man1b1 A G 2: 25,338,227 K170E probably benign Het
Mcrs1 A T 15: 99,249,501 I39N probably damaging Het
Mug2 T C 6: 122,049,628 probably benign Het
Neu3 C A 7: 99,813,422 G365W probably damaging Het
Nipal3 A C 4: 135,471,883 probably null Het
Nrxn3 A G 12: 89,255,034 I528V possibly damaging Het
Olfr122 A T 17: 37,771,839 H71L possibly damaging Het
Osbpl8 A G 10: 111,267,747 K204R probably damaging Het
Pax8 A G 2: 24,435,919 S318P possibly damaging Het
Pcdh18 T A 3: 49,756,141 N242Y probably damaging Het
Pkd1l2 T A 8: 117,059,520 K649* probably null Het
Ppm1n A T 7: 19,279,254 D257E probably benign Het
Pxdn A G 12: 30,002,797 E811G probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rreb1 T C 13: 37,931,034 C790R probably benign Het
Rtkn2 G T 10: 68,025,519 C258F possibly damaging Het
Scn11a G A 9: 119,784,161 probably benign Het
Snx8 G A 5: 140,358,096 R96C probably damaging Het
Syne2 A T 12: 76,060,226 T5649S possibly damaging Het
Tm2d3 T A 7: 65,695,222 C82* probably null Het
Tnpo2 T C 8: 85,040,526 L55P probably damaging Het
Tsc22d2 T C 3: 58,417,415 probably benign Het
Ttll3 T G 6: 113,394,729 V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 I86V probably benign Het
Vps13d G A 4: 145,088,322 T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 I753T probably damaging Het
Other mutations in Cpvl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Cpvl APN 6 53896451 nonsense probably null
IGL02596:Cpvl APN 6 53932010 missense probably damaging 1.00
PIT4472001:Cpvl UTSW 6 53896479 missense possibly damaging 0.69
R0242:Cpvl UTSW 6 53932500 missense possibly damaging 0.95
R0242:Cpvl UTSW 6 53932500 missense possibly damaging 0.95
R1586:Cpvl UTSW 6 53926901 missense probably damaging 1.00
R1987:Cpvl UTSW 6 53954611 missense probably benign 0.01
R4609:Cpvl UTSW 6 53974620 critical splice donor site probably null
R4664:Cpvl UTSW 6 53931933 missense probably benign 0.00
R4665:Cpvl UTSW 6 53931933 missense probably benign 0.00
R4666:Cpvl UTSW 6 53931933 missense probably benign 0.00
R5863:Cpvl UTSW 6 53873428 missense probably damaging 0.99
R5909:Cpvl UTSW 6 53932428 missense probably damaging 0.98
R6163:Cpvl UTSW 6 53873518 missense probably damaging 1.00
R6948:Cpvl UTSW 6 53896483 missense possibly damaging 0.94
R7023:Cpvl UTSW 6 53967812 missense probably benign 0.00
R7262:Cpvl UTSW 6 53932515 missense probably damaging 1.00
R7330:Cpvl UTSW 6 53974759 missense probably benign 0.43
R7488:Cpvl UTSW 6 53947742 missense probably damaging 1.00
X0062:Cpvl UTSW 6 53926852 missense possibly damaging 0.88
Posted On2013-10-07