Incidental Mutation 'R1429:Cpxm1'
ID 161430
Institutional Source Beutler Lab
Gene Symbol Cpxm1
Ensembl Gene ENSMUSG00000027408
Gene Name carboxypeptidase X, M14 family member 1
Synonyms Cpx-1
MMRRC Submission 039485-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.462) question?
Stock # R1429 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 130232695-130239494 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130238364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 66 (I66N)
Ref Sequence ENSEMBL: ENSMUSP00000028897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028897]
AlphaFold Q9Z100
Predicted Effect probably damaging
Transcript: ENSMUST00000028897
AA Change: I66N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028897
Gene: ENSMUSG00000027408
AA Change: I66N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 56 75 N/A INTRINSIC
FA58C 104 263 1.44e-28 SMART
Zn_pept 410 699 5.77e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130533
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Alg8 C T 7: 97,039,499 (GRCm39) A410V probably benign Het
Arhgef4 A G 1: 34,849,420 (GRCm39) Y481C probably damaging Het
Armc8 A G 9: 99,418,260 (GRCm39) V56A possibly damaging Het
Cactin T C 10: 81,159,512 (GRCm39) I23T probably damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cfap54 T C 10: 92,656,900 (GRCm39) I3051V probably benign Het
Ddx50 G A 10: 62,482,847 (GRCm39) T74I possibly damaging Het
Dnah7b G T 1: 46,328,816 (GRCm39) D3183Y possibly damaging Het
Dsg1b A G 18: 20,523,252 (GRCm39) D93G probably damaging Het
Ess2 G A 16: 17,720,069 (GRCm39) R427* probably null Het
Fam135a T G 1: 24,083,348 (GRCm39) K292N probably damaging Het
Fam83b G T 9: 76,399,859 (GRCm39) R415S probably benign Het
Fxyd3 T A 7: 30,773,046 (GRCm39) M1L probably benign Het
Gm5134 T A 10: 75,814,215 (GRCm39) M193K probably damaging Het
Golgb1 A G 16: 36,720,925 (GRCm39) E427G possibly damaging Het
Gpat3 G A 5: 101,040,953 (GRCm39) G338S probably damaging Het
Hmgxb3 C T 18: 61,283,505 (GRCm39) R606Q probably damaging Het
Itgb1 T C 8: 129,444,157 (GRCm39) probably null Het
Myh1 C A 11: 67,108,736 (GRCm39) T1384K possibly damaging Het
Myo3b A C 2: 70,083,351 (GRCm39) Q640P probably damaging Het
Naa16 A G 14: 79,596,967 (GRCm39) V305A probably benign Het
Or5h17 G A 16: 58,820,501 (GRCm39) G151D possibly damaging Het
Pgap1 T C 1: 54,534,020 (GRCm39) D631G probably benign Het
Phc2 C A 4: 128,637,348 (GRCm39) P51Q probably damaging Het
Pmel G A 10: 128,554,861 (GRCm39) probably null Het
Rassf8 G T 6: 145,760,916 (GRCm39) G81W probably damaging Het
Rfx2 G T 17: 57,111,369 (GRCm39) Q68K probably damaging Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Rsbn1l A G 5: 21,125,016 (GRCm39) L262S probably damaging Het
S100a16 A C 3: 90,449,391 (GRCm39) Y22S probably damaging Het
Stx19 G A 16: 62,642,960 (GRCm39) V259I possibly damaging Het
Tas2r105 T C 6: 131,663,904 (GRCm39) I175V probably benign Het
Vmn2r67 T A 7: 84,802,031 (GRCm39) H90L possibly damaging Het
Wscd1 T A 11: 71,651,000 (GRCm39) L109Q probably damaging Het
Zfp423 T A 8: 88,413,070 (GRCm39) Q1154L probably damaging Het
Zmym6 T C 4: 127,017,672 (GRCm39) L1059P probably damaging Het
Other mutations in Cpxm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Cpxm1 APN 2 130,237,863 (GRCm39) missense probably damaging 1.00
IGL01327:Cpxm1 APN 2 130,238,277 (GRCm39) missense probably benign 0.00
IGL01373:Cpxm1 APN 2 130,236,055 (GRCm39) missense probably damaging 1.00
IGL01622:Cpxm1 APN 2 130,233,191 (GRCm39) missense probably benign 0.00
IGL01623:Cpxm1 APN 2 130,233,191 (GRCm39) missense probably benign 0.00
IGL01981:Cpxm1 APN 2 130,236,060 (GRCm39) nonsense probably null
IGL02031:Cpxm1 APN 2 130,235,601 (GRCm39) missense probably damaging 1.00
IGL02369:Cpxm1 APN 2 130,238,344 (GRCm39) missense probably damaging 1.00
IGL03057:Cpxm1 APN 2 130,235,109 (GRCm39) missense probably damaging 1.00
BB007:Cpxm1 UTSW 2 130,236,982 (GRCm39) missense possibly damaging 0.95
BB017:Cpxm1 UTSW 2 130,236,982 (GRCm39) missense possibly damaging 0.95
R0316:Cpxm1 UTSW 2 130,235,091 (GRCm39) missense probably damaging 1.00
R0544:Cpxm1 UTSW 2 130,235,055 (GRCm39) missense probably damaging 1.00
R0726:Cpxm1 UTSW 2 130,232,859 (GRCm39) missense probably damaging 0.96
R0944:Cpxm1 UTSW 2 130,239,423 (GRCm39) missense probably damaging 1.00
R1334:Cpxm1 UTSW 2 130,235,483 (GRCm39) missense probably damaging 0.99
R1366:Cpxm1 UTSW 2 130,238,042 (GRCm39) missense probably damaging 1.00
R1654:Cpxm1 UTSW 2 130,235,466 (GRCm39) missense possibly damaging 0.51
R1824:Cpxm1 UTSW 2 130,237,617 (GRCm39) missense probably damaging 0.99
R2144:Cpxm1 UTSW 2 130,239,330 (GRCm39) missense probably benign 0.00
R2200:Cpxm1 UTSW 2 130,235,117 (GRCm39) missense probably damaging 1.00
R2320:Cpxm1 UTSW 2 130,236,131 (GRCm39) missense probably damaging 1.00
R2434:Cpxm1 UTSW 2 130,236,004 (GRCm39) missense probably damaging 1.00
R3118:Cpxm1 UTSW 2 130,235,493 (GRCm39) missense possibly damaging 0.80
R4601:Cpxm1 UTSW 2 130,235,496 (GRCm39) missense possibly damaging 0.83
R5020:Cpxm1 UTSW 2 130,237,897 (GRCm39) splice site probably null
R5041:Cpxm1 UTSW 2 130,235,990 (GRCm39) missense probably damaging 1.00
R5727:Cpxm1 UTSW 2 130,232,883 (GRCm39) nonsense probably null
R5806:Cpxm1 UTSW 2 130,239,393 (GRCm39) missense probably damaging 1.00
R6660:Cpxm1 UTSW 2 130,238,069 (GRCm39) missense probably damaging 1.00
R7431:Cpxm1 UTSW 2 130,235,966 (GRCm39) missense probably benign 0.00
R7491:Cpxm1 UTSW 2 130,235,487 (GRCm39) missense probably benign 0.22
R7743:Cpxm1 UTSW 2 130,235,342 (GRCm39) missense probably benign 0.01
R7930:Cpxm1 UTSW 2 130,236,982 (GRCm39) missense possibly damaging 0.95
R8375:Cpxm1 UTSW 2 130,236,146 (GRCm39) missense probably damaging 1.00
R8783:Cpxm1 UTSW 2 130,237,643 (GRCm39) missense probably benign 0.01
R8900:Cpxm1 UTSW 2 130,235,360 (GRCm39) missense probably damaging 1.00
R9738:Cpxm1 UTSW 2 130,235,302 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCGGTGTGCTCCAAGACCAAAG -3'
(R):5'- CCAGTCTCTAATGGCTCAGTGTTGC -3'

Sequencing Primer
(F):5'- TGGCTATCTGAAACCCTCAAGG -3'
(R):5'- CGTGAGCCAAAGATGTTGTG -3'
Posted On 2014-03-14