Incidental Mutation 'R9650:Cpq'
ID 727060
Institutional Source Beutler Lab
Gene Symbol Cpq
Ensembl Gene ENSMUSG00000039007
Gene Name carboxypeptidase Q
Synonyms Lal-1, HLS2, Pgcp, 2610034C17Rik, 1190003P12Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.808) question?
Stock # R9650 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 33083275-33594698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33497405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 382 (I382F)
Ref Sequence ENSEMBL: ENSMUSP00000039046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042167] [ENSMUST00000228916]
AlphaFold Q9WVJ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000042167
AA Change: I382F

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039046
Gene: ENSMUSG00000039007
AA Change: I382F

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 possibly damaging
Transcript: ENSMUST00000228916
AA Change: I382F

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,071,446 (GRCm39) N1469Y probably benign Het
Actl10 T A 2: 154,394,682 (GRCm39) N211K probably benign Het
Adam33 C T 2: 130,894,989 (GRCm39) V690M possibly damaging Het
Agap2 G A 10: 126,927,653 (GRCm39) R1178H unknown Het
Ank2 T A 3: 126,735,829 (GRCm39) T3352S unknown Het
BC005537 T A 13: 24,986,122 (GRCm39) D7E unknown Het
Bptf T C 11: 106,935,412 (GRCm39) M142V probably benign Het
Cox15 A G 19: 43,735,318 (GRCm39) Y150H probably benign Het
Cps1 T C 1: 67,254,636 (GRCm39) F1275S Het
Cs T A 10: 128,196,856 (GRCm39) M417K probably benign Het
Cyp2b19 G A 7: 26,466,208 (GRCm39) R337Q possibly damaging Het
Dmgdh A T 13: 93,845,333 (GRCm39) Y442F probably benign Het
Dync2h1 A T 9: 7,174,849 (GRCm39) D131E possibly damaging Het
Epb41l2 A G 10: 25,369,495 (GRCm39) I605V probably benign Het
Evc G A 5: 37,458,162 (GRCm39) P963L probably damaging Het
Evl C A 12: 108,641,698 (GRCm39) T160N probably benign Het
Fam76a T C 4: 132,629,387 (GRCm39) Y255C probably damaging Het
Fras1 G T 5: 96,910,387 (GRCm39) R3272L probably damaging Het
Fry T C 5: 150,369,375 (GRCm39) V2283A probably damaging Het
Fzd6 A G 15: 38,894,941 (GRCm39) Y369C probably damaging Het
Hip1r T C 5: 124,135,357 (GRCm39) probably null Het
Hps5 A G 7: 46,425,354 (GRCm39) S449P probably damaging Het
Ighv1-34 G T 12: 114,814,885 (GRCm39) D92E possibly damaging Het
Iigp1c T G 18: 60,379,470 (GRCm39) V335G probably damaging Het
Ino80 C T 2: 119,277,464 (GRCm39) R337Q probably damaging Het
Itgax T C 7: 127,734,935 (GRCm39) I422T probably benign Het
Itk A T 11: 46,222,778 (GRCm39) Y564N probably damaging Het
Kcnh5 A C 12: 75,023,293 (GRCm39) S592A probably benign Het
Klhl40 T A 9: 121,609,083 (GRCm39) V416E possibly damaging Het
Lhfpl4 T C 6: 113,171,147 (GRCm39) E13G probably benign Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Muc16 A T 9: 18,553,762 (GRCm39) M4177K unknown Het
Ngef T A 1: 87,415,552 (GRCm39) T371S possibly damaging Het
Nutm2 A T 13: 50,623,755 (GRCm39) T151S probably benign Het
Or4c109 A T 2: 88,818,006 (GRCm39) L180* probably null Het
Or51f2 T C 7: 102,526,987 (GRCm39) I220T probably damaging Het
Pate13 A C 9: 35,820,799 (GRCm39) M84L probably benign Het
Pcdhga8 T A 18: 37,860,519 (GRCm39) I525K probably benign Het
Pcx C T 19: 4,657,714 (GRCm39) R394C probably damaging Het
Pnmt A T 11: 98,278,262 (GRCm39) D112V probably damaging Het
Rnf115 C T 3: 96,665,337 (GRCm39) T69I probably damaging Het
Rrp7a A T 15: 83,004,091 (GRCm39) probably null Het
Senp1 A T 15: 97,946,248 (GRCm39) M499K probably damaging Het
Serpina3f G A 12: 104,186,519 (GRCm39) A362T possibly damaging Het
Slc29a3 T A 10: 60,586,302 (GRCm39) I55F possibly damaging Het
Stab2 ACC AC 10: 86,692,561 (GRCm39) probably null Het
Tln1 G A 4: 43,545,912 (GRCm39) T901I probably damaging Het
Tmem102 T C 11: 69,695,869 (GRCm39) K64R probably benign Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tnxb G A 17: 34,930,629 (GRCm39) V2105I probably damaging Het
Traf2 A C 2: 25,410,454 (GRCm39) C391W probably damaging Het
Tubgcp3 A G 8: 12,705,974 (GRCm39) S183P probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Usp2 C A 9: 44,000,476 (GRCm39) N288K probably damaging Het
Utrn T C 10: 12,613,929 (GRCm39) T381A probably benign Het
Vil1 C T 1: 74,464,775 (GRCm39) P474L probably benign Het
Wasf2 T A 4: 132,917,457 (GRCm39) N185K unknown Het
Zfp865 A G 7: 5,037,683 (GRCm39) M45V unknown Het
Other mutations in Cpq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Cpq APN 15 33,497,433 (GRCm39) missense probably benign
IGL01773:Cpq APN 15 33,212,996 (GRCm39) missense probably benign 0.42
IGL02406:Cpq APN 15 33,302,654 (GRCm39) missense probably damaging 1.00
IGL02527:Cpq APN 15 33,302,509 (GRCm39) missense probably damaging 1.00
IGL02596:Cpq APN 15 33,213,160 (GRCm39) missense probably damaging 1.00
IGL02642:Cpq APN 15 33,381,546 (GRCm39) missense probably damaging 0.99
IGL03382:Cpq APN 15 33,213,089 (GRCm39) missense probably damaging 0.96
R0309:Cpq UTSW 15 33,594,297 (GRCm39) missense probably damaging 1.00
R1545:Cpq UTSW 15 33,250,146 (GRCm39) missense probably damaging 1.00
R1698:Cpq UTSW 15 33,250,272 (GRCm39) missense probably benign 0.45
R1967:Cpq UTSW 15 33,497,348 (GRCm39) missense possibly damaging 0.65
R2321:Cpq UTSW 15 33,594,291 (GRCm39) missense probably benign
R2431:Cpq UTSW 15 33,594,265 (GRCm39) nonsense probably null
R4705:Cpq UTSW 15 33,497,484 (GRCm39) missense probably benign
R5087:Cpq UTSW 15 33,213,008 (GRCm39) missense probably benign 0.08
R5367:Cpq UTSW 15 33,213,250 (GRCm39) missense possibly damaging 0.91
R5790:Cpq UTSW 15 33,250,143 (GRCm39) missense probably damaging 1.00
R6347:Cpq UTSW 15 33,290,332 (GRCm39) splice site probably null
R7319:Cpq UTSW 15 33,250,185 (GRCm39) missense probably benign 0.02
R7495:Cpq UTSW 15 33,302,586 (GRCm39) missense probably damaging 0.98
R7711:Cpq UTSW 15 33,497,493 (GRCm39) missense probably benign 0.04
R7806:Cpq UTSW 15 33,497,443 (GRCm39) missense possibly damaging 0.83
R7945:Cpq UTSW 15 33,594,382 (GRCm39) missense probably benign
R8440:Cpq UTSW 15 33,213,341 (GRCm39) missense possibly damaging 0.93
R8944:Cpq UTSW 15 33,594,269 (GRCm39) missense probably damaging 1.00
R8991:Cpq UTSW 15 33,213,353 (GRCm39) missense probably damaging 0.99
R8992:Cpq UTSW 15 33,594,381 (GRCm39) missense probably benign 0.05
R9431:Cpq UTSW 15 33,250,078 (GRCm39) missense probably benign 0.12
R9445:Cpq UTSW 15 33,213,391 (GRCm39) missense possibly damaging 0.62
X0063:Cpq UTSW 15 33,213,398 (GRCm39) missense probably damaging 1.00
Z1176:Cpq UTSW 15 33,381,537 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCTTAGGTTTGGTGAATCTCAG -3'
(R):5'- ATGCCAGTGGTTAGTGCCAG -3'

Sequencing Primer
(F):5'- TTGACAACAATCTGTAAGAAGGTG -3'
(R):5'- CAGTGGTTAGTGCCAGTAACC -3'
Posted On 2022-10-06