Incidental Mutation 'R6657:Cpxm2'
ID 526667
Institutional Source Beutler Lab
Gene Symbol Cpxm2
Ensembl Gene ENSMUSG00000030862
Gene Name carboxypeptidase X, M14 family member 2
Synonyms 4632435C11Rik
MMRRC Submission 044778-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6657 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 131634416-131756468 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131650806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 618 (Y618C)
Ref Sequence ENSEMBL: ENSMUSP00000033149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033149] [ENSMUST00000124096]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033149
AA Change: Y618C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: Y618C

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 52 59 N/A INTRINSIC
low complexity region 72 82 N/A INTRINSIC
low complexity region 87 98 N/A INTRINSIC
FA58C 143 301 2.18e-46 SMART
Zn_pept 448 736 9.21e-58 SMART
low complexity region 751 764 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000209155
AA Change: Y14C
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik T G 8: 106,435,450 (GRCm39) L36R probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Akr1b7 A C 6: 34,393,135 (GRCm39) D106A probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Chst5 C T 8: 112,616,906 (GRCm39) R238Q probably benign Het
Csnk1d T C 11: 120,855,820 (GRCm39) E405G possibly damaging Het
Ctsh A T 9: 89,942,555 (GRCm39) M37L probably benign Het
Eml5 T G 12: 98,757,664 (GRCm39) I1843L probably damaging Het
Ep400 C A 5: 110,841,411 (GRCm39) probably benign Het
Fbln2 A G 6: 91,236,732 (GRCm39) N749S possibly damaging Het
Gpc5 A G 14: 115,607,610 (GRCm39) H404R probably benign Het
Hyal6 A G 6: 24,734,757 (GRCm39) D230G possibly damaging Het
Itga5 T C 15: 103,259,222 (GRCm39) D735G probably damaging Het
Kansl2 T A 15: 98,422,551 (GRCm39) Q339L possibly damaging Het
Lrp4 T A 2: 91,322,398 (GRCm39) M1078K probably benign Het
Mmp24 A T 2: 155,640,099 (GRCm39) Y143F probably damaging Het
Mroh7 A T 4: 106,559,697 (GRCm39) C743* probably null Het
Myh14 T C 7: 44,287,270 (GRCm39) N618D probably damaging Het
Myo19 A T 11: 84,788,022 (GRCm39) M324L probably benign Het
Nectin2 T C 7: 19,472,065 (GRCm39) N108S probably benign Het
Nrg2 A G 18: 36,329,642 (GRCm39) I191T probably damaging Het
Odf4 T C 11: 68,817,638 (GRCm39) N18D probably benign Het
Or5aq6 T A 2: 86,923,403 (GRCm39) I113F probably benign Het
Pcsk2 T G 2: 143,532,286 (GRCm39) L145V probably damaging Het
Pdzrn3 C A 6: 101,127,983 (GRCm39) Q894H probably benign Het
Pfpl G A 19: 12,407,290 (GRCm39) V514I probably benign Het
Plbd1 A T 6: 136,594,250 (GRCm39) M333K probably damaging Het
Plec A T 15: 76,062,356 (GRCm39) M2554K possibly damaging Het
Psmb5 A G 14: 54,851,840 (GRCm39) Y115H possibly damaging Het
Rictor A G 15: 6,788,977 (GRCm39) N198D possibly damaging Het
Rsrc2 A G 5: 123,877,630 (GRCm39) probably benign Het
Sec16a C T 2: 26,315,876 (GRCm39) W262* probably null Het
Sfmbt1 A G 14: 30,488,053 (GRCm39) D8G possibly damaging Het
Sptbn5 T G 2: 119,906,881 (GRCm39) probably benign Het
Sqor A G 2: 122,649,514 (GRCm39) D139G possibly damaging Het
Sugt1 A T 14: 79,844,701 (GRCm39) T139S probably benign Het
Tcp11 G A 17: 28,290,646 (GRCm39) P159S probably damaging Het
Tmem262 A G 19: 6,130,542 (GRCm39) T89A possibly damaging Het
Tnfaip6 C A 2: 51,933,795 (GRCm39) T50N probably damaging Het
Ttll9 T C 2: 152,826,182 (GRCm39) Y131H probably damaging Het
Vmn1r173 T A 7: 23,402,320 (GRCm39) M185K probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r52 G A 7: 9,893,090 (GRCm39) T683I probably damaging Het
Vps53 A T 11: 76,025,253 (GRCm39) I197N probably damaging Het
Washc4 T A 10: 83,394,482 (GRCm39) F269L possibly damaging Het
Wdfy4 C T 14: 32,769,208 (GRCm39) V2086M possibly damaging Het
Zfp592 A T 7: 80,675,234 (GRCm39) T733S possibly damaging Het
Zfp599 A G 9: 22,161,538 (GRCm39) F209S probably damaging Het
Other mutations in Cpxm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Cpxm2 APN 7 131,661,540 (GRCm39) missense probably benign 0.01
IGL02039:Cpxm2 APN 7 131,649,482 (GRCm39) missense probably damaging 1.00
IGL03011:Cpxm2 APN 7 131,650,807 (GRCm39) missense possibly damaging 0.46
R0033:Cpxm2 UTSW 7 131,663,886 (GRCm39) missense possibly damaging 0.55
R0100:Cpxm2 UTSW 7 131,656,600 (GRCm39) missense possibly damaging 0.90
R0100:Cpxm2 UTSW 7 131,656,600 (GRCm39) missense possibly damaging 0.90
R0453:Cpxm2 UTSW 7 131,730,134 (GRCm39) missense probably damaging 1.00
R0555:Cpxm2 UTSW 7 131,645,772 (GRCm39) nonsense probably null
R0655:Cpxm2 UTSW 7 131,656,549 (GRCm39) missense possibly damaging 0.87
R0834:Cpxm2 UTSW 7 131,756,342 (GRCm39) intron probably benign
R1145:Cpxm2 UTSW 7 131,659,377 (GRCm39) missense probably damaging 0.99
R1145:Cpxm2 UTSW 7 131,659,377 (GRCm39) missense probably damaging 0.99
R1249:Cpxm2 UTSW 7 131,730,079 (GRCm39) critical splice donor site probably null
R1563:Cpxm2 UTSW 7 131,745,411 (GRCm39) missense probably benign 0.00
R1565:Cpxm2 UTSW 7 131,663,874 (GRCm39) missense probably damaging 1.00
R1709:Cpxm2 UTSW 7 131,661,563 (GRCm39) missense probably damaging 1.00
R1863:Cpxm2 UTSW 7 131,745,392 (GRCm39) splice site probably null
R1874:Cpxm2 UTSW 7 131,661,563 (GRCm39) missense probably damaging 1.00
R1958:Cpxm2 UTSW 7 131,663,876 (GRCm39) missense probably damaging 1.00
R2273:Cpxm2 UTSW 7 131,661,581 (GRCm39) intron probably benign
R3806:Cpxm2 UTSW 7 131,681,820 (GRCm39) missense probably benign 0.12
R3861:Cpxm2 UTSW 7 131,656,648 (GRCm39) missense probably benign 0.00
R4570:Cpxm2 UTSW 7 131,745,435 (GRCm39) missense probably benign 0.11
R4642:Cpxm2 UTSW 7 131,672,610 (GRCm39) missense probably benign 0.11
R4684:Cpxm2 UTSW 7 131,650,767 (GRCm39) missense possibly damaging 0.92
R4717:Cpxm2 UTSW 7 131,656,574 (GRCm39) missense possibly damaging 0.61
R4863:Cpxm2 UTSW 7 131,661,476 (GRCm39) missense probably benign 0.13
R5079:Cpxm2 UTSW 7 131,756,014 (GRCm39) critical splice donor site probably null
R5341:Cpxm2 UTSW 7 131,756,342 (GRCm39) intron probably benign
R5626:Cpxm2 UTSW 7 131,661,581 (GRCm39) intron probably benign
R5666:Cpxm2 UTSW 7 131,656,625 (GRCm39) missense probably benign 0.44
R5815:Cpxm2 UTSW 7 131,645,839 (GRCm39) missense probably damaging 1.00
R6114:Cpxm2 UTSW 7 131,756,035 (GRCm39) missense probably benign
R6133:Cpxm2 UTSW 7 131,730,182 (GRCm39) missense probably damaging 1.00
R6224:Cpxm2 UTSW 7 131,745,460 (GRCm39) missense probably benign
R6468:Cpxm2 UTSW 7 131,672,589 (GRCm39) missense probably damaging 1.00
R7058:Cpxm2 UTSW 7 131,745,408 (GRCm39) missense probably benign 0.32
R7100:Cpxm2 UTSW 7 131,656,544 (GRCm39) missense probably benign 0.06
R7198:Cpxm2 UTSW 7 131,681,813 (GRCm39) missense probably damaging 1.00
R7712:Cpxm2 UTSW 7 131,756,107 (GRCm39) missense possibly damaging 0.69
R7855:Cpxm2 UTSW 7 131,659,424 (GRCm39) missense possibly damaging 0.56
R7867:Cpxm2 UTSW 7 131,650,800 (GRCm39) missense probably damaging 1.00
R8513:Cpxm2 UTSW 7 131,745,431 (GRCm39) missense probably benign 0.01
R8694:Cpxm2 UTSW 7 131,681,783 (GRCm39) missense probably benign 0.03
R8874:Cpxm2 UTSW 7 131,708,010 (GRCm39) critical splice donor site probably null
R8967:Cpxm2 UTSW 7 131,661,564 (GRCm39) missense probably damaging 1.00
R9680:Cpxm2 UTSW 7 131,661,651 (GRCm39) missense probably damaging 1.00
R9759:Cpxm2 UTSW 7 131,756,242 (GRCm39) missense probably benign 0.03
RF014:Cpxm2 UTSW 7 131,672,592 (GRCm39) missense possibly damaging 0.85
Z1177:Cpxm2 UTSW 7 131,656,730 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATAGGCTCCATCCGACTCTC -3'
(R):5'- GGTTATTAACGACGGCTTTCCAG -3'

Sequencing Primer
(F):5'- ACTCTCCCGTGGCTGTGATG -3'
(R):5'- GGCTTTCCAGGCGCATTTATTTC -3'
Posted On 2018-07-23