Incidental Mutation 'IGL01773:Cpq'
ID153725
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: 0.620) question?
Stock #IGL01773
Quality Score
Status
Chromosome15
Chromosomal Location33083129-33594552 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 33212850 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 5 (F5Y)
Ref Sequence ENSEMBL: ENSMUSP00000154802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042167] [ENSMUST00000226483] [ENSMUST00000228737] [ENSMUST00000228916]
Predicted Effect probably benign
Transcript: ENSMUST00000042167
AA Change: F5Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039046
Gene: ENSMUSG00000039007
AA Change: F5Y

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: ENSMUST00000226483
AA Change: F5Y

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226896
Predicted Effect probably benign
Transcript: ENSMUST00000228737
AA Change: F5Y

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000228916
AA Change: F5Y

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1s C A 1: 136,118,753 H1775Q probably benign Het
Calcrl A G 2: 84,370,443 Y86H probably benign Het
Ccdc63 T C 5: 122,113,145 K401E possibly damaging Het
Col9a1 A G 1: 24,205,066 T127A probably benign Het
Cuzd1 T A 7: 131,314,885 M282L probably damaging Het
Ddx10 C A 9: 53,204,130 D635Y possibly damaging Het
Ect2l T C 10: 18,161,504 D382G probably damaging Het
Ganc T C 2: 120,459,884 S901P possibly damaging Het
Gpr179 G A 11: 97,341,366 R671C probably benign Het
Isl2 T C 9: 55,544,220 L219P probably damaging Het
Mfsd13a T C 19: 46,369,294 S296P possibly damaging Het
Mtmr7 A T 8: 40,581,419 L287Q probably damaging Het
Olfr1355 A G 10: 78,879,936 T255A possibly damaging Het
Olfr607 T G 7: 103,461,014 M60L possibly damaging Het
Olfr741 T C 14: 50,485,773 F105S probably damaging Het
Olfr945 A G 9: 39,258,534 I46T probably damaging Het
Pik3c3 T A 18: 30,277,102 F130I probably damaging Het
Rab3gap1 T A 1: 127,918,221 S277R possibly damaging Het
Rassf9 A G 10: 102,545,633 K290R probably benign Het
Rnaseh2a A T 8: 84,965,138 V136D probably damaging Het
Rnf39 C T 17: 36,945,436 S140L possibly damaging Het
Sbno2 A G 10: 80,057,831 V1212A probably damaging Het
Slc4a10 A T 2: 62,190,757 I50F probably damaging Het
Slfn5 A T 11: 82,961,331 E761V probably damaging Het
Sptlc1 A G 13: 53,377,298 Y18H probably damaging Het
Tfam A G 10: 71,236,975 M9T possibly damaging Het
Tmem186 A G 16: 8,635,977 L140P probably damaging Het
Try4 A T 6: 41,305,026 N182I probably damaging Het
Vmn1r209 C T 13: 22,806,280 C80Y probably damaging Het
Vmn2r104 A T 17: 20,040,668 S498T probably benign Het
Other mutations in Cpq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Cpq APN 15 33497287 missense probably benign
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
X0063:Cpq UTSW 15 33213252 missense probably damaging 1.00
Z1176:Cpq UTSW 15 33381391 missense probably damaging 1.00
Posted On2014-02-04