Incidental Mutation 'IGL01108:Cpq'
ID52807
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpq
Ensembl Gene ENSMUSG00000039007
Gene Namecarboxypeptidase Q
Synonyms2610034C17Rik, HLS2, Lal-1, Pgcp, 1190003P12Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.586) question?
Stock #IGL01108
Quality Score
Status
Chromosome15
Chromosomal Location33083129-33594552 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 33497287 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 391 (Q391R)
Ref Sequence ENSEMBL: ENSMUSP00000154400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042167] [ENSMUST00000228916]
Predicted Effect probably benign
Transcript: ENSMUST00000042167
AA Change: Q391R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039046
Gene: ENSMUSG00000039007
AA Change: Q391R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 186 199 N/A INTRINSIC
Pfam:Peptidase_M28 268 457 5.9e-29 PFAM
Pfam:Peptidase_M20 284 457 1.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228916
AA Change: Q391R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah2 A G 19: 32,008,681 probably benign Het
Baz1a A G 12: 54,916,731 I856T probably benign Het
Cblb T A 16: 52,047,451 probably null Het
Dnah9 T A 11: 65,849,980 T4127S possibly damaging Het
Dync2h1 A G 9: 7,176,771 S63P possibly damaging Het
Elmsan1 T C 12: 84,173,691 E163G probably damaging Het
Ercc3 T C 18: 32,264,585 V623A probably damaging Het
Fbxw9 A G 8: 85,065,977 probably benign Het
Gorasp2 T A 2: 70,678,578 S133R probably damaging Het
Gtf2h1 G A 7: 46,812,498 A307T probably damaging Het
Hk1 T C 10: 62,296,708 K186R probably benign Het
Itga11 A G 9: 62,757,621 E596G probably benign Het
Kcnj13 T C 1: 87,386,937 I188V probably benign Het
Klhl18 A T 9: 110,428,686 M492K probably damaging Het
Mctp2 T C 7: 72,185,815 T545A probably damaging Het
Mgrn1 G T 16: 4,916,155 probably null Het
Olfm4 T C 14: 80,021,899 V529A probably benign Het
Olfr275 C T 4: 52,825,727 T110I probably damaging Het
Parp4 T G 14: 56,607,440 I596S probably benign Het
Plppr3 T A 10: 79,867,521 D43V probably damaging Het
Prss51 A T 14: 64,095,984 K14I probably damaging Het
Prss58 A G 6: 40,897,344 C133R probably damaging Het
Recql5 A T 11: 115,897,181 N437K probably benign Het
Samd10 A G 2: 181,597,214 Y135H probably damaging Het
Scnn1b G T 7: 121,914,332 probably null Het
Serpina7 C T X: 139,083,137 V58I probably benign Het
Slf1 A T 13: 77,125,475 probably benign Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Urb1 C T 16: 90,792,814 A360T probably damaging Het
Ush2a G T 1: 188,862,825 R3818L probably benign Het
Vmn2r57 C T 7: 41,427,584 R386K probably benign Het
Wnt3a T C 11: 59,256,309 N184D probably benign Het
Xpc G A 6: 91,493,005 R746W probably damaging Het
Other mutations in Cpq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01773:Cpq APN 15 33212850 missense probably benign 0.42
IGL02406:Cpq APN 15 33302508 missense probably damaging 1.00
IGL02527:Cpq APN 15 33302363 missense probably damaging 1.00
IGL02596:Cpq APN 15 33213014 missense probably damaging 1.00
IGL02642:Cpq APN 15 33381400 missense probably damaging 0.99
IGL03382:Cpq APN 15 33212943 missense probably damaging 0.96
R0309:Cpq UTSW 15 33594151 missense probably damaging 1.00
R1545:Cpq UTSW 15 33250000 missense probably damaging 1.00
R1698:Cpq UTSW 15 33250126 missense probably benign 0.45
R1967:Cpq UTSW 15 33497202 missense possibly damaging 0.65
R2321:Cpq UTSW 15 33594145 missense probably benign
R2431:Cpq UTSW 15 33594119 nonsense probably null
R4705:Cpq UTSW 15 33497338 missense probably benign
R5087:Cpq UTSW 15 33212862 missense probably benign 0.08
R5367:Cpq UTSW 15 33213104 missense possibly damaging 0.91
R5790:Cpq UTSW 15 33249997 missense probably damaging 1.00
R6347:Cpq UTSW 15 33290186 intron probably null
R7319:Cpq UTSW 15 33250039 missense probably benign 0.02
R7495:Cpq UTSW 15 33302440 missense probably damaging 0.98
R7711:Cpq UTSW 15 33497347 missense probably benign 0.04
R7806:Cpq UTSW 15 33497297 missense possibly damaging 0.83
R7945:Cpq UTSW 15 33594236 missense probably benign
X0063:Cpq UTSW 15 33213252 missense probably damaging 1.00
Z1176:Cpq UTSW 15 33381391 missense probably damaging 1.00
Posted On2013-06-21