Incidental Mutation 'R0100:Cpxm2'
ID 16984
Institutional Source Beutler Lab
Gene Symbol Cpxm2
Ensembl Gene ENSMUSG00000030862
Gene Name carboxypeptidase X 2 (M14 family)
Synonyms 4632435C11Rik
MMRRC Submission 038386-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0100 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 132032687-132154739 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132054871 bp (GRCm38)
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: 156,174,958 (GRCm38) C814R probably damaging Het
Aoc1 T C 6: 48,908,604 (GRCm38) I681T possibly damaging Het
Atp13a4 T C 16: 29,421,724 (GRCm38) H793R probably damaging Het
Atp6v0a4 T C 6: 38,076,815 (GRCm38) I351V probably benign Het
Bbof1 T A 12: 84,411,055 (GRCm38) D31E probably benign Het
Ddx55 C T 5: 124,556,782 (GRCm38) T91I probably damaging Het
Dhx57 T C 17: 80,275,156 (GRCm38) D340G possibly damaging Het
Dnah1 C T 14: 31,262,152 (GRCm38) probably null Het
Dpp9 C T 17: 56,205,854 (GRCm38) G118D possibly damaging Het
Etl4 T C 2: 20,339,905 (GRCm38) S4P probably benign Het
Fat4 A C 3: 38,980,248 (GRCm38) N2683T probably damaging Het
Gabrb2 A G 11: 42,487,314 (GRCm38) D119G probably damaging Het
Garre1 A G 7: 34,254,011 (GRCm38) I442T possibly damaging Het
Greb1 T A 12: 16,680,224 (GRCm38) Q1734L probably benign Het
Gtf2ird2 T C 5: 134,217,015 (GRCm38) L705P probably damaging Het
H13 T A 2: 152,689,863 (GRCm38) probably null Het
Hgs T G 11: 120,482,852 (GRCm38) Y708D possibly damaging Het
Hip1 T C 5: 135,436,453 (GRCm38) D367G probably benign Het
Ift140 C T 17: 25,090,954 (GRCm38) Q1112* probably null Het
Il17b A G 18: 61,690,271 (GRCm38) M59V probably benign Het
Lpin3 T C 2: 160,905,340 (GRCm38) Y829H probably damaging Het
Lrrk2 A T 15: 91,745,796 (GRCm38) N1230I probably damaging Het
Mindy2 C A 9: 70,607,449 (GRCm38) probably benign Het
Nup210 T G 6: 91,069,193 (GRCm38) E586A probably benign Het
Or1j17 A T 2: 36,688,911 (GRCm38) N303I probably benign Het
Or2bd2 C T 7: 6,440,400 (GRCm38) R167C probably damaging Het
Or5be3 T C 2: 87,033,595 (GRCm38) T209A probably benign Het
Osgepl1 A G 1: 53,323,213 (GRCm38) I405V probably damaging Het
Pdcd11 T C 19: 47,102,666 (GRCm38) S360P probably benign Het
Plekha6 T C 1: 133,270,177 (GRCm38) S271P probably damaging Het
Plekhs1 A G 19: 56,478,502 (GRCm38) E255G probably damaging Het
Pram1 T A 17: 33,641,399 (GRCm38) N313K possibly damaging Het
Rapgef5 C T 12: 117,721,299 (GRCm38) S261L probably benign Het
Spint5 T A 2: 164,717,000 (GRCm38) C49S probably damaging Het
Tex22 T A 12: 113,088,772 (GRCm38) I150N probably benign Het
Thoc6 A T 17: 23,669,850 (GRCm38) W195R probably damaging Het
Tmem106a T C 11: 101,586,258 (GRCm38) S98P probably benign Het
Tnfrsf18 A G 4: 156,028,366 (GRCm38) T170A probably benign Het
Tor1aip1 A T 1: 156,007,075 (GRCm38) D342E probably damaging Het
Trav7-6 T C 14: 53,717,072 (GRCm38) S20P probably damaging Het
Trpc6 C T 9: 8,653,034 (GRCm38) P614S probably damaging Het
Washc5 A G 15: 59,344,098 (GRCm38) F811L possibly damaging Het
Other mutations in Cpxm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Cpxm2 APN 7 132,059,811 (GRCm38) missense probably benign 0.01
IGL02039:Cpxm2 APN 7 132,047,753 (GRCm38) missense probably damaging 1.00
IGL03011:Cpxm2 APN 7 132,049,078 (GRCm38) missense possibly damaging 0.46
R0033:Cpxm2 UTSW 7 132,062,157 (GRCm38) missense possibly damaging 0.55
R0100:Cpxm2 UTSW 7 132,054,871 (GRCm38) missense possibly damaging 0.90
R0453:Cpxm2 UTSW 7 132,128,405 (GRCm38) missense probably damaging 1.00
R0555:Cpxm2 UTSW 7 132,044,043 (GRCm38) nonsense probably null
R0655:Cpxm2 UTSW 7 132,054,820 (GRCm38) missense possibly damaging 0.87
R0834:Cpxm2 UTSW 7 132,154,613 (GRCm38) intron probably benign
R1145:Cpxm2 UTSW 7 132,057,648 (GRCm38) missense probably damaging 0.99
R1145:Cpxm2 UTSW 7 132,057,648 (GRCm38) missense probably damaging 0.99
R1249:Cpxm2 UTSW 7 132,128,350 (GRCm38) critical splice donor site probably null
R1563:Cpxm2 UTSW 7 132,143,682 (GRCm38) missense probably benign 0.00
R1565:Cpxm2 UTSW 7 132,062,145 (GRCm38) missense probably damaging 1.00
R1709:Cpxm2 UTSW 7 132,059,834 (GRCm38) missense probably damaging 1.00
R1863:Cpxm2 UTSW 7 132,143,663 (GRCm38) splice site probably null
R1874:Cpxm2 UTSW 7 132,059,834 (GRCm38) missense probably damaging 1.00
R1958:Cpxm2 UTSW 7 132,062,147 (GRCm38) missense probably damaging 1.00
R2273:Cpxm2 UTSW 7 132,059,852 (GRCm38) intron probably benign
R3806:Cpxm2 UTSW 7 132,080,091 (GRCm38) missense probably benign 0.12
R3861:Cpxm2 UTSW 7 132,054,919 (GRCm38) missense probably benign 0.00
R4570:Cpxm2 UTSW 7 132,143,706 (GRCm38) missense probably benign 0.11
R4642:Cpxm2 UTSW 7 132,070,881 (GRCm38) missense probably benign 0.11
R4684:Cpxm2 UTSW 7 132,049,038 (GRCm38) missense possibly damaging 0.92
R4717:Cpxm2 UTSW 7 132,054,845 (GRCm38) missense possibly damaging 0.61
R4863:Cpxm2 UTSW 7 132,059,747 (GRCm38) missense probably benign 0.13
R5079:Cpxm2 UTSW 7 132,154,285 (GRCm38) critical splice donor site probably null
R5341:Cpxm2 UTSW 7 132,154,613 (GRCm38) intron probably benign
R5626:Cpxm2 UTSW 7 132,059,852 (GRCm38) intron probably benign
R5666:Cpxm2 UTSW 7 132,054,896 (GRCm38) missense probably benign 0.44
R5815:Cpxm2 UTSW 7 132,044,110 (GRCm38) missense probably damaging 1.00
R6114:Cpxm2 UTSW 7 132,154,306 (GRCm38) missense probably benign
R6133:Cpxm2 UTSW 7 132,128,453 (GRCm38) missense probably damaging 1.00
R6224:Cpxm2 UTSW 7 132,143,731 (GRCm38) missense probably benign
R6468:Cpxm2 UTSW 7 132,070,860 (GRCm38) missense probably damaging 1.00
R6657:Cpxm2 UTSW 7 132,049,077 (GRCm38) missense probably damaging 1.00
R7058:Cpxm2 UTSW 7 132,143,679 (GRCm38) missense probably benign 0.32
R7100:Cpxm2 UTSW 7 132,054,815 (GRCm38) missense probably benign 0.06
R7198:Cpxm2 UTSW 7 132,080,084 (GRCm38) missense probably damaging 1.00
R7712:Cpxm2 UTSW 7 132,154,378 (GRCm38) missense possibly damaging 0.69
R7855:Cpxm2 UTSW 7 132,057,695 (GRCm38) missense possibly damaging 0.56
R7867:Cpxm2 UTSW 7 132,049,071 (GRCm38) missense probably damaging 1.00
R8513:Cpxm2 UTSW 7 132,143,702 (GRCm38) missense probably benign 0.01
R8694:Cpxm2 UTSW 7 132,080,054 (GRCm38) missense probably benign 0.03
R8874:Cpxm2 UTSW 7 132,106,281 (GRCm38) critical splice donor site probably null
R8967:Cpxm2 UTSW 7 132,059,835 (GRCm38) missense probably damaging 1.00
R9680:Cpxm2 UTSW 7 132,059,922 (GRCm38) missense probably damaging 1.00
R9759:Cpxm2 UTSW 7 132,154,513 (GRCm38) missense probably benign 0.03
RF014:Cpxm2 UTSW 7 132,070,863 (GRCm38) missense possibly damaging 0.85
Z1177:Cpxm2 UTSW 7 132,055,001 (GRCm38) missense probably benign 0.01
Posted On 2013-01-20