Incidental Mutation 'R7198:Cpxm2'
ID 560082
Institutional Source Beutler Lab
Gene Symbol Cpxm2
Ensembl Gene ENSMUSG00000030862
Gene Name carboxypeptidase X, M14 family member 2
Synonyms 4632435C11Rik
MMRRC Submission 045337-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7198 (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 A at 131681813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 239 (N239Y)
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: N239Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: N239Y

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
Meta Mutation Damage Score 0.7773 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C T 11: 109,969,481 (GRCm39) S365N probably damaging Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Baz2b A G 2: 59,792,550 (GRCm39) L526P probably benign Het
Bbs1 A T 19: 4,945,043 (GRCm39) L376Q probably damaging Het
Bcl9 T A 3: 97,112,511 (GRCm39) M1315L possibly damaging Het
Bcl9 T C 3: 97,116,183 (GRCm39) Q837R probably damaging Het
Cct2 A G 10: 116,889,029 (GRCm39) V490A probably benign Het
Cdh23 T C 10: 60,148,378 (GRCm39) Y2663C possibly damaging Het
Chit1 A G 1: 134,078,229 (GRCm39) K346E possibly damaging Het
Chl1 A G 6: 103,683,517 (GRCm39) Y781C probably damaging Het
Col12a1 A C 9: 79,557,314 (GRCm39) L1938R possibly damaging Het
Cyp3a41b A G 5: 145,519,330 (GRCm39) Y54H probably benign Het
Dclk1 A C 3: 55,385,296 (GRCm39) D369A possibly damaging Het
Dnai4 A G 4: 102,919,610 (GRCm39) V498A probably damaging Het
Dpy19l3 T C 7: 35,449,190 (GRCm39) N71S possibly damaging Het
Efcab3 T A 11: 104,642,711 (GRCm39) N1111K probably benign Het
Fer T A 17: 64,228,683 (GRCm39) V186E possibly damaging Het
Gm11042 T A 12: 74,361,888 (GRCm39) H39L unknown Het
Gm14325 A G 2: 177,473,798 (GRCm39) I428T probably benign Het
Gm47995 A G 1: 151,074,404 (GRCm39) E69G possibly damaging Het
Gm6176 T A 7: 21,750,596 (GRCm39) I112F probably damaging Het
Hivep2 T A 10: 14,005,710 (GRCm39) D769E probably benign Het
Hsdl1 C T 8: 120,294,607 (GRCm39) V40I probably benign Het
Ipmk A G 10: 71,183,882 (GRCm39) H34R probably damaging Het
Kcnd3 T C 3: 105,366,856 (GRCm39) L242P probably damaging Het
Kdm4d T C 9: 14,375,316 (GRCm39) M181V probably damaging Het
Lats2 A T 14: 57,934,582 (GRCm39) I716N probably damaging Het
Liph T C 16: 21,784,772 (GRCm39) Y305C probably damaging Het
Ltbp1 T C 17: 75,533,962 (GRCm39) V150A possibly damaging Het
Ly6d A T 15: 74,634,384 (GRCm39) S69T probably benign Het
Meltf A G 16: 31,702,617 (GRCm39) R115G possibly damaging Het
Msgn1 G T 12: 11,258,902 (GRCm39) D16E probably benign Het
Mthfd2l T A 5: 91,094,705 (GRCm39) I58K probably damaging Het
Mup18 G C 4: 61,591,573 (GRCm39) probably null Het
Nek10 T A 14: 14,850,947 (GRCm38) W331R probably damaging Het
Nphp3 A G 9: 103,881,974 (GRCm39) Y148C probably damaging Het
Or4a47 T C 2: 89,666,076 (GRCm39) Y71C probably damaging Het
Or5h19 C T 16: 58,856,456 (GRCm39) V215I probably benign Het
Or6c33 T A 10: 129,853,760 (GRCm39) C177S probably damaging Het
Oscp1 A G 4: 125,980,459 (GRCm39) T325A possibly damaging Het
Pcdha4 T A 18: 37,086,613 (GRCm39) N265K probably damaging Het
Pigq C T 17: 26,153,199 (GRCm39) V331I probably benign Het
Plekhg4 A G 8: 106,105,329 (GRCm39) E598G probably damaging Het
Pou6f2 G A 13: 18,303,748 (GRCm39) T120M probably damaging Het
Psg27 T A 7: 18,295,726 (GRCm39) T240S probably damaging Het
Samd12 T A 15: 53,723,649 (GRCm39) I15F probably damaging Het
Scaf4 A T 16: 90,049,318 (GRCm39) D256E unknown Het
Scaf8 T A 17: 3,213,373 (GRCm39) M154K unknown Het
Slc27a1 T C 8: 72,032,071 (GRCm39) V64A possibly damaging Het
Smc5 G A 19: 23,237,064 (GRCm39) R256* probably null Het
Snx31 A G 15: 36,555,455 (GRCm39) F31L probably benign Het
Spag17 T C 3: 100,002,888 (GRCm39) S1871P probably benign Het
Tdpoz4 T G 3: 93,704,662 (GRCm39) S320A probably benign Het
Tmprss11c A T 5: 86,379,691 (GRCm39) C406S probably damaging Het
Tnip1 G A 11: 54,808,630 (GRCm39) A519V probably benign Het
Tssc4 T A 7: 142,624,724 (GRCm39) probably null Het
Uba3 A T 6: 97,182,512 (GRCm39) M1K probably null Het
Usp32 GAACAAGTCCACAACAA GAACAA 11: 84,913,681 (GRCm39) probably null Het
Wnt11 T C 7: 98,496,588 (GRCm39) M176T possibly damaging Het
Wrn C T 8: 33,814,346 (GRCm39) G366D probably benign Het
Xylt1 T A 7: 117,255,807 (GRCm39) I793N probably damaging Het
Zfp677 T G 17: 21,618,679 (GRCm39) C579G probably damaging Het
Zscan4-ps1 T A 7: 10,799,626 (GRCm39) K421M 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
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
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'- GTGATCATTATTCATCAGACCCTCCTG -3'
(R):5'- AGGCCTTGCTTTCTGTTGTC -3'

Sequencing Primer
(F):5'- CCTCCTGGTTGGTTTGAGTTTACAC -3'
(R):5'- CCTGACAAGTTAGCATGTATGGTCC -3'
Posted On 2019-06-26