Incidental Mutation 'R0100:Cpxm2'
ID 16984
Institutional Source Beutler Lab
Gene Symbol Cpxm2
Ensembl Gene ENSMUSG00000030862
Gene Name carboxypeptidase X, M14 family member 2
Synonyms 4632435C11Rik
MMRRC Submission 038386-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0100 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 131634416-131756468 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131656600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 554 (H554L)
Ref Sequence ENSEMBL: ENSMUSP00000033149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033149] [ENSMUST00000124096]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000033149
AA Change: H554L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: H554L

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 noncoding transcript
Transcript: ENSMUST00000122681
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 noncoding transcript
Transcript: ENSMUST00000127039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150405
Meta Mutation Damage Score 0.1607 question?
Coding Region Coverage
  • 1x: 90.3%
  • 3x: 88.1%
  • 10x: 82.7%
  • 20x: 75.2%
Validation Efficiency 89% (68/76)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,259,415 (GRCm39) C814R probably damaging Het
Aoc1 T C 6: 48,885,538 (GRCm39) I681T possibly damaging Het
Atp13a4 T C 16: 29,240,542 (GRCm39) H793R probably damaging Het
Atp6v0a4 T C 6: 38,053,750 (GRCm39) I351V probably benign Het
Bbof1 T A 12: 84,457,829 (GRCm39) D31E probably benign Het
Ddx55 C T 5: 124,694,845 (GRCm39) T91I probably damaging Het
Dhx57 T C 17: 80,582,585 (GRCm39) D340G possibly damaging Het
Dnah1 C T 14: 30,984,109 (GRCm39) probably null Het
Dpp9 C T 17: 56,512,854 (GRCm39) G118D possibly damaging Het
Etl4 T C 2: 20,344,716 (GRCm39) S4P probably benign Het
Fat4 A C 3: 39,034,397 (GRCm39) N2683T probably damaging Het
Gabrb2 A G 11: 42,378,141 (GRCm39) D119G probably damaging Het
Garre1 A G 7: 33,953,436 (GRCm39) I442T possibly damaging Het
Greb1 T A 12: 16,730,225 (GRCm39) Q1734L probably benign Het
Gtf2ird2 T C 5: 134,245,857 (GRCm39) L705P probably damaging Het
H13 T A 2: 152,531,783 (GRCm39) probably null Het
Hgs T G 11: 120,373,678 (GRCm39) Y708D possibly damaging Het
Hip1 T C 5: 135,465,307 (GRCm39) D367G probably benign Het
Ift140 C T 17: 25,309,928 (GRCm39) Q1112* probably null Het
Il17b A G 18: 61,823,342 (GRCm39) M59V probably benign Het
Lpin3 T C 2: 160,747,260 (GRCm39) Y829H probably damaging Het
Lrrk2 A T 15: 91,629,999 (GRCm39) N1230I probably damaging Het
Mindy2 C A 9: 70,514,731 (GRCm39) probably benign Het
Nup210 T G 6: 91,046,175 (GRCm39) E586A probably benign Het
Or1j17 A T 2: 36,578,923 (GRCm39) N303I probably benign Het
Or2bd2 C T 7: 6,443,399 (GRCm39) R167C probably damaging Het
Or5be3 T C 2: 86,863,939 (GRCm39) T209A probably benign Het
Osgepl1 A G 1: 53,362,372 (GRCm39) I405V probably damaging Het
Pdcd11 T C 19: 47,091,105 (GRCm39) S360P probably benign Het
Plekha6 T C 1: 133,197,915 (GRCm39) S271P probably damaging Het
Plekhs1 A G 19: 56,466,934 (GRCm39) E255G probably damaging Het
Pram1 T A 17: 33,860,373 (GRCm39) N313K possibly damaging Het
Rapgef5 C T 12: 117,685,034 (GRCm39) S261L probably benign Het
Spint5 T A 2: 164,558,920 (GRCm39) C49S probably damaging Het
Tex22 T A 12: 113,052,392 (GRCm39) I150N probably benign Het
Thoc6 A T 17: 23,888,824 (GRCm39) W195R probably damaging Het
Tmem106a T C 11: 101,477,084 (GRCm39) S98P probably benign Het
Tnfrsf18 A G 4: 156,112,823 (GRCm39) T170A probably benign Het
Tor1aip1 A T 1: 155,882,821 (GRCm39) D342E probably damaging Het
Trav7-6 T C 14: 53,954,529 (GRCm39) S20P probably damaging Het
Trpc6 C T 9: 8,653,035 (GRCm39) P614S probably damaging Het
Washc5 A G 15: 59,215,947 (GRCm39) F811L possibly 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
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
R6657:Cpxm2 UTSW 7 131,650,806 (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
Posted On 2013-01-20