Incidental Mutation 'R1958:Cpxm2'
ID 218029
Institutional Source Beutler Lab
Gene Symbol Cpxm2
Ensembl Gene ENSMUSG00000030862
Gene Name carboxypeptidase X, M14 family member 2
Synonyms 4632435C11Rik
MMRRC Submission 039972-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1958 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 131634416-131756468 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131663876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 349 (I349N)
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: I349N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: I349N

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 0.8923 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 97% (99/102)
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,457,146 (GRCm39) N155I probably benign Het
Abca14 A G 7: 119,924,382 (GRCm39) Y1678C probably damaging Het
Adamts19 A T 18: 59,103,078 (GRCm39) R706S probably benign Het
Adipor1 T C 1: 134,350,771 (GRCm39) S7P probably benign Het
Adss2 A G 1: 177,597,544 (GRCm39) I372T probably damaging Het
Arhgap15 T A 2: 44,133,136 (GRCm39) D347E possibly damaging Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
Asb8 T C 15: 98,034,097 (GRCm39) T153A possibly damaging Het
Aspscr1 G T 11: 120,580,034 (GRCm39) G191V probably null Het
Atm T C 9: 53,382,718 (GRCm39) H1957R probably damaging Het
Atp13a5 A G 16: 29,133,419 (GRCm39) Y411H probably damaging Het
Cadm1 T G 9: 47,761,633 (GRCm39) I411S probably damaging Het
Cdh23 T A 10: 60,246,652 (GRCm39) M927L probably benign Het
Cdk15 A T 1: 59,383,475 (GRCm39) R423W probably damaging Het
Cep250 T A 2: 155,818,301 (GRCm39) probably null Het
Cfap43 T A 19: 47,885,649 (GRCm39) Y322F probably benign Het
Cfap54 T C 10: 92,833,204 (GRCm39) S1141G probably benign Het
Clnk T C 5: 38,863,969 (GRCm39) Y428C possibly damaging Het
Cnksr1 A G 4: 133,955,727 (GRCm39) S668P probably benign Het
Csmd3 A G 15: 47,868,035 (GRCm39) probably null Het
Cstdc3 T C 16: 36,132,927 (GRCm39) L68P possibly damaging Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dph2 A T 4: 117,749,041 (GRCm39) F5I probably damaging Het
Dst T A 1: 34,202,802 (GRCm39) F325L probably damaging Het
Edem3 T C 1: 151,680,076 (GRCm39) L474S probably damaging Het
Emilin1 T A 5: 31,075,160 (GRCm39) L467Q probably benign Het
Fam170a G A 18: 50,415,181 (GRCm39) E276K probably benign Het
Farp1 A T 14: 121,456,787 (GRCm39) probably null Het
Fbrs A T 7: 127,085,163 (GRCm39) T584S possibly damaging Het
Fbxo22 T A 9: 55,116,626 (GRCm39) probably null Het
Fhod3 T G 18: 25,223,522 (GRCm39) L956R probably damaging Het
Fmo4 G A 1: 162,631,259 (GRCm39) T236I probably benign Het
Foxp4 C T 17: 48,186,796 (GRCm39) R378Q unknown Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm11444 A T 11: 85,738,999 (GRCm39) probably benign Het
Gm14443 T C 2: 175,011,497 (GRCm39) I316M probably benign Het
Has3 A T 8: 107,605,435 (GRCm39) Y547F probably benign Het
Hdhd2 A G 18: 77,052,841 (GRCm39) T164A probably benign Het
Hoxb9 T A 11: 96,162,880 (GRCm39) D171E possibly damaging Het
Hpx A G 7: 105,245,603 (GRCm39) Y118H probably damaging Het
Iqsec1 T C 6: 90,647,441 (GRCm39) K858E probably damaging Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Lama2 C A 10: 26,857,594 (GRCm39) R3085L probably damaging Het
Lyst C A 13: 13,791,203 (GRCm39) A22E probably damaging Het
Man2a1 T C 17: 65,057,830 (GRCm39) F1079L probably benign Het
Marco C T 1: 120,412,593 (GRCm39) G303R probably damaging Het
Marveld2 A C 13: 100,733,858 (GRCm39) I536R probably damaging Het
Mcm5 A G 8: 75,848,257 (GRCm39) D502G probably benign Het
Mdga1 A T 17: 30,059,862 (GRCm39) L653Q probably damaging Het
Mical2 A G 7: 111,980,311 (GRCm39) D161G probably benign Het
Mroh2a C T 1: 88,165,213 (GRCm39) R445* probably null Het
Mrpl46 A T 7: 78,431,146 (GRCm39) probably null Het
Nckipsd C A 9: 108,691,863 (GRCm39) probably null Het
Nek11 T C 9: 105,170,916 (GRCm39) D373G probably benign Het
Nle1 G A 11: 82,795,068 (GRCm39) S321F probably benign Het
Noxa1 A G 2: 24,980,620 (GRCm39) S130P probably damaging Het
Or10a5 A G 7: 106,635,478 (GRCm39) T39A possibly damaging Het
Or51v14 T A 7: 103,260,618 (GRCm39) *314L probably null Het
Or5l13 A T 2: 87,779,809 (GRCm39) L256H probably damaging Het
Or8b39 T A 9: 37,996,419 (GRCm39) C96S probably damaging Het
Parp3 T G 9: 106,352,021 (GRCm39) probably null Het
Pask A T 1: 93,249,180 (GRCm39) I740N probably benign Het
Pelp1 A G 11: 70,289,347 (GRCm39) F221S probably damaging Het
Pkd1l1 T G 11: 8,824,161 (GRCm39) K1135Q probably benign Het
Plcl2 A T 17: 50,915,109 (GRCm39) Q706L probably damaging Het
Psg26 T C 7: 18,212,264 (GRCm39) T364A probably benign Het
Ptprb C T 10: 116,177,441 (GRCm39) T1047M probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rab37 C T 11: 115,051,177 (GRCm39) A155V probably damaging Het
Rbbp6 A C 7: 122,601,168 (GRCm39) probably benign Het
Rbmxl2 A G 7: 106,809,405 (GRCm39) D230G probably benign Het
Rsf1 CGGCGGCGGCGGCGGCGGCGGCGGCGGC CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,115 (GRCm39) probably benign Het
Sass6 G T 3: 116,403,945 (GRCm39) K194N possibly damaging Het
Sgpp1 T G 12: 75,782,222 (GRCm39) D39A probably benign Het
Shank3 T C 15: 89,387,351 (GRCm39) V198A probably damaging Het
Sin3a T A 9: 57,012,893 (GRCm39) S591T probably damaging Het
Slc12a6 C T 2: 112,185,503 (GRCm39) T924I possibly damaging Het
Sln T A 9: 53,760,785 (GRCm39) I10N probably benign Het
St3gal3 A T 4: 117,797,268 (GRCm39) M309K probably damaging Het
Syne2 T A 12: 76,016,319 (GRCm39) D3301E probably benign Het
Tgtp2 A G 11: 48,949,919 (GRCm39) S218P probably damaging Het
Tha1 C T 11: 117,760,179 (GRCm39) probably benign Het
Tmem102 A G 11: 69,695,225 (GRCm39) V249A probably benign Het
Top3b G A 16: 16,702,166 (GRCm39) E268K possibly damaging Het
Trip4 T C 9: 65,746,307 (GRCm39) S530G possibly damaging Het
Tut1 T A 19: 8,936,677 (GRCm39) V167E probably damaging Het
Tut4 A T 4: 108,412,903 (GRCm39) S1535C probably damaging Het
Ube2u A T 4: 100,338,833 (GRCm39) M33L probably benign Het
Unc79 T C 12: 102,957,621 (GRCm39) I12T probably damaging Het
Unc79 A T 12: 103,041,178 (GRCm39) D737V probably benign Het
Vmn1r26 A G 6: 57,985,286 (GRCm39) V301A probably benign Het
Vmn1r86 A G 7: 12,836,621 (GRCm39) V35A possibly damaging Het
Vmn2r98 A C 17: 19,286,680 (GRCm39) N393H possibly damaging Het
Vps13b T G 15: 35,878,835 (GRCm39) S2945A probably damaging Het
Whrn C T 4: 63,353,666 (GRCm39) R367H possibly damaging Het
Zfp235 A T 7: 23,839,771 (GRCm39) L133F probably damaging Het
Zfp74 T C 7: 29,635,136 (GRCm39) T191A probably benign Het
Zfp943 A T 17: 22,211,979 (GRCm39) K355I probably damaging Het
Zranb1 T G 7: 132,584,458 (GRCm39) S601R probably damaging Het
Zscan29 A T 2: 121,000,289 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TTGGGAGAGAATGACAGTTGTC -3'
(R):5'- TCTGGACAGGTATAGCAGTGGG -3'

Sequencing Primer
(F):5'- TTGTCAGCAGCTGTCAACAG -3'
(R):5'- CAGGTATAGCAGTGGGGCTGTG -3'
Posted On 2014-08-01