Incidental Mutation 'IGL02406:Cpq'
ID292080
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: 0.672) question?
Stock #IGL02406
Quality Score
Status
Chromosome15
Chromosomal Location33083129-33594552 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 33302508 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 268 (N268K)
Ref Sequence ENSEMBL: ENSMUSP00000154400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042167] [ENSMUST00000228916]
Predicted Effect probably damaging
Transcript: ENSMUST00000042167
AA Change: N268K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039046
Gene: ENSMUSG00000039007
AA Change: N268K

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 noncoding transcript
Transcript: ENSMUST00000226814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226896
Predicted Effect probably damaging
Transcript: ENSMUST00000228916
AA Change: N268K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G T 7: 120,540,602 A1496S probably damaging Het
Abra A T 15: 41,869,187 V161E probably damaging Het
Adcy4 G A 14: 55,770,047 T942I possibly damaging Het
Atrip A G 9: 109,065,419 V480A probably damaging Het
Azin1 A T 15: 38,491,565 D382E probably benign Het
BC034090 G T 1: 155,225,153 A455E probably benign Het
Clstn1 A G 4: 149,627,359 Y121C probably damaging Het
Cpsf7 A G 19: 10,531,988 S88G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2j11 G A 4: 96,348,539 A10V possibly damaging Het
Dock4 T C 12: 40,777,207 V983A probably benign Het
Dspp G T 5: 104,177,366 E532* probably null Het
Ercc4 G T 16: 13,123,536 D243Y probably damaging Het
Fars2 C A 13: 36,410,162 D383E probably benign Het
Fip1l1 A G 5: 74,564,544 T280A probably benign Het
Gcgr T G 11: 120,537,184 N292K probably damaging Het
Gtpbp4 T A 13: 8,991,750 K85M possibly damaging Het
Jhy A G 9: 40,910,989 Y618H probably damaging Het
Mbd4 A T 6: 115,849,025 I314N possibly damaging Het
Mbtd1 C T 11: 93,908,858 T70M probably damaging Het
Mki67 T C 7: 135,698,793 H1504R probably benign Het
Mks1 T C 11: 87,862,785 V515A probably benign Het
Msantd2 G T 9: 37,523,459 V332L probably damaging Het
Myrip A T 9: 120,467,532 T836S probably benign Het
Nbea T C 3: 56,086,266 I238V probably benign Het
Plekhh1 T C 12: 79,069,009 probably benign Het
Prkdc A G 16: 15,670,535 N507S probably benign Het
Prss12 G A 3: 123,505,474 V632I possibly damaging Het
Puf60 A G 15: 76,074,609 S121P probably damaging Het
Raet1e G A 10: 22,180,636 C37Y probably damaging Het
Ralgps2 G T 1: 156,828,268 A362E possibly damaging Het
Scn1a A G 2: 66,326,036 S510P possibly damaging Het
Skap2 A C 6: 51,874,473 probably null Het
Slc4a10 G A 2: 62,190,769 V54M probably benign Het
Spata17 A G 1: 187,117,261 probably null Het
Stoml3 T A 3: 53,503,250 N128K probably damaging Het
Tatdn2 T A 6: 113,704,213 S402R probably benign Het
Tmprss11f A G 5: 86,533,666 W243R probably damaging Het
Vmn2r32 A G 7: 7,476,710 Y155H probably benign Het
Vmn2r86 T A 10: 130,448,639 T528S possibly damaging Het
Zfhx3 C T 8: 108,955,742 A3271V unknown Het
Zkscan3 T C 13: 21,388,178 N428S possibly damaging Het
Zxdc A G 6: 90,398,836 S765G probably benign Het
Other mutations in Cpq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Cpq APN 15 33497287 missense probably benign
IGL01773:Cpq APN 15 33212850 missense probably benign 0.42
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 splice site 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 On2015-04-16