Incidental Mutation 'IGL02947:Cpb2'
ID364774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpb2
Ensembl Gene ENSMUSG00000021999
Gene Namecarboxypeptidase B2 (plasma)
Synonymscarboxypeptidase U, TAFI, carboxypeptidase R, CPR, CPU, 1110032P04Rik, thrombin-activatable fibrinolysis inhibitor, 4930405E17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL02947
Quality Score
Status
Chromosome14
Chromosomal Location75242287-75283555 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 75283318 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 391 (Y391S)
Ref Sequence ENSEMBL: ENSMUSP00000022576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022576] [ENSMUST00000022577] [ENSMUST00000227049]
Predicted Effect probably damaging
Transcript: ENSMUST00000022576
AA Change: Y391S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: Y391S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Propep_M14 28 104 2.3e-17 PFAM
Zn_pept 122 406 2.1e-134 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000022577
SMART Domains Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000

DomainStartEndE-ValueType
ZnF_C3H1 36 63 4.54e-4 SMART
low complexity region 136 145 N/A INTRINSIC
coiled coil region 162 197 N/A INTRINSIC
low complexity region 204 233 N/A INTRINSIC
low complexity region 261 269 N/A INTRINSIC
low complexity region 278 287 N/A INTRINSIC
low complexity region 321 357 N/A INTRINSIC
low complexity region 411 478 N/A INTRINSIC
low complexity region 482 493 N/A INTRINSIC
low complexity region 496 575 N/A INTRINSIC
low complexity region 684 701 N/A INTRINSIC
coiled coil region 706 865 N/A INTRINSIC
low complexity region 907 918 N/A INTRINSIC
internal_repeat_1 921 948 1.8e-6 PROSPERO
low complexity region 964 985 N/A INTRINSIC
low complexity region 1032 1052 N/A INTRINSIC
low complexity region 1071 1087 N/A INTRINSIC
low complexity region 1160 1218 N/A INTRINSIC
low complexity region 1253 1265 N/A INTRINSIC
internal_repeat_1 1273 1301 1.8e-6 PROSPERO
low complexity region 1325 1349 N/A INTRINSIC
low complexity region 1366 1391 N/A INTRINSIC
low complexity region 1400 1425 N/A INTRINSIC
low complexity region 1431 1442 N/A INTRINSIC
low complexity region 1690 1697 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226417
Predicted Effect probably benign
Transcript: ENSMUST00000227049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227817
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes carboxypeptidase B, a zinc-dependent metalloprotease that cleaves peptide bonds at the C-terminus of protein substrates. The encoded preproprotein undergoes proteolytic activation to generate a mature, functional enzyme, and secreted into plasma. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice exhibit altered plasma clot lysis and may show reduced bleomycin-induced lung fibrosis, impaired healing of cutaneous wounds and colonic anastomoses, altered glomerular structure, or complement-mediated lethal inflammation after LPS sensitization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001L19Rik T A 13: 68,611,193 F95L probably benign Het
Aasdh A G 5: 76,902,110 V13A probably benign Het
Atp8b5 T A 4: 43,305,774 I106K possibly damaging Het
Cdh15 T C 8: 122,865,372 S633P probably benign Het
Celsr3 A G 9: 108,845,935 T228A probably benign Het
Chrng A G 1: 87,209,884 probably null Het
Coprs T C 8: 13,885,782 E79G probably damaging Het
Cyp2j8 A T 4: 96,470,578 I368N probably damaging Het
Ddah1 T C 3: 145,759,087 F76L probably benign Het
Eif2ak4 A G 2: 118,431,033 T573A probably benign Het
Exoc6b T A 6: 84,858,429 M375L probably benign Het
Fasn T C 11: 120,815,676 E994G probably damaging Het
Fem1a T A 17: 56,258,640 C578S probably benign Het
Garnl3 A G 2: 33,046,594 S188P probably damaging Het
Gpn3 T C 5: 122,378,488 V60A possibly damaging Het
Hnrnpr A G 4: 136,316,379 D59G probably damaging Het
Hydin A T 8: 110,418,462 E815V probably damaging Het
Itga9 C T 9: 118,658,533 T228M probably damaging Het
Kpna7 T C 5: 144,994,074 I320M probably damaging Het
Lnpep T C 17: 17,570,972 T437A probably damaging Het
Ltf C T 9: 111,038,947 T48I probably benign Het
Masp1 T G 16: 23,494,726 D153A probably damaging Het
Mcpt9 T A 14: 56,026,916 R241* probably null Het
Msantd4 T A 9: 4,384,787 S171T probably damaging Het
Nos1 G A 5: 117,943,317 V1229M probably damaging Het
Npc1l1 A G 11: 6,229,246 S55P probably benign Het
Oc90 T C 15: 65,888,134 K212R probably benign Het
Olfr1095 C T 2: 86,850,786 R304K probably benign Het
Olfr446 A G 6: 42,927,896 I222V probably benign Het
Olfr771 C A 10: 129,160,570 C138F probably damaging Het
Prr12 T A 7: 45,048,556 Q645L unknown Het
Psmd9 A G 5: 123,246,215 I145V probably benign Het
Rbks T C 5: 31,660,063 I121V probably benign Het
Rnase2b A T 14: 51,162,807 Y115F probably damaging Het
Sarnp A G 10: 128,839,854 E78G probably benign Het
Sltm A G 9: 70,591,664 S1007G probably benign Het
Spata31d1c T A 13: 65,034,945 Y100* probably null Het
Srrm2 T C 17: 23,810,746 S222P probably benign Het
Sult3a1 G A 10: 33,864,050 R35Q possibly damaging Het
Tfap4 T C 16: 4,551,360 D132G probably damaging Het
Tmem53 C T 4: 117,268,088 Q111* probably null Het
Togaram1 T A 12: 65,021,500 V1709D probably damaging Het
Trpm3 A T 19: 22,901,119 D628V probably damaging Het
Ttn T A 2: 76,714,494 K31009* probably null Het
Vldlr A G 19: 27,239,720 I58V probably benign Het
Vmn1r4 T C 6: 56,957,246 F245S probably benign Het
Vrtn T A 12: 84,648,484 S3T probably damaging Het
Vwa7 A G 17: 35,023,500 probably null Het
Wrnip1 T A 13: 32,822,070 Y632N probably damaging Het
Other mutations in Cpb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:Cpb2 APN 14 75275093 missense possibly damaging 0.64
IGL00925:Cpb2 APN 14 75260750 missense possibly damaging 0.56
IGL01069:Cpb2 APN 14 75270775 missense probably damaging 1.00
IGL01521:Cpb2 APN 14 75257631 missense probably damaging 1.00
IGL02331:Cpb2 APN 14 75283404 missense possibly damaging 0.93
IGL02961:Cpb2 APN 14 75265383 missense probably benign
PIT4677001:Cpb2 UTSW 14 75256023 missense probably benign
R0271:Cpb2 UTSW 14 75257709 splice site probably null
R0277:Cpb2 UTSW 14 75265458 missense probably damaging 1.00
R0372:Cpb2 UTSW 14 75242377 missense probably benign 0.01
R1893:Cpb2 UTSW 14 75255963 missense probably benign 0.44
R1926:Cpb2 UTSW 14 75242397 missense probably benign 0.07
R2372:Cpb2 UTSW 14 75268050 missense probably damaging 0.97
R2923:Cpb2 UTSW 14 75256033 critical splice donor site probably null
R3714:Cpb2 UTSW 14 75283217 splice site probably null
R5958:Cpb2 UTSW 14 75283387 missense probably damaging 1.00
R5987:Cpb2 UTSW 14 75260688 missense probably damaging 1.00
R6354:Cpb2 UTSW 14 75257705 critical splice donor site probably null
R6495:Cpb2 UTSW 14 75275079 missense probably damaging 1.00
R6984:Cpb2 UTSW 14 75265458 missense possibly damaging 0.78
R7211:Cpb2 UTSW 14 75274990 missense probably damaging 1.00
R7380:Cpb2 UTSW 14 75256009 missense possibly damaging 0.77
R7444:Cpb2 UTSW 14 75283342 missense probably damaging 0.99
R7625:Cpb2 UTSW 14 75272549 missense possibly damaging 0.89
R7784:Cpb2 UTSW 14 75275040 missense probably damaging 1.00
R8436:Cpb2 UTSW 14 75272575 missense probably damaging 1.00
Posted On2015-12-18