Incidental Mutation 'IGL01878:Pzp'
ID 178960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pzp
Ensembl Gene ENSMUSG00000030359
Gene Name PZP, alpha-2-macroglobulin like
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL01878
Quality Score
Status
Chromosome 6
Chromosomal Location 128460530-128503683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128472261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 843 (S843P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112132]
AlphaFold Q61838
Predicted Effect probably damaging
Transcript: ENSMUST00000032510
AA Change: S843P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032510
Gene: ENSMUSG00000030359
AA Change: S843P

DomainStartEndE-ValueType
low complexity region 11 18 N/A INTRINSIC
Pfam:A2M_N 126 219 8.8e-22 PFAM
low complexity region 327 338 N/A INTRINSIC
A2M_N_2 458 606 6.18e-40 SMART
A2M 750 840 2.27e-38 SMART
Pfam:Thiol-ester_cl 973 1002 5.7e-19 PFAM
Pfam:A2M_comp 1022 1284 1.6e-93 PFAM
A2M_recep 1395 1482 6.47e-43 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112132
AA Change: S843P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: S843P

DomainStartEndE-ValueType
low complexity region 11 18 N/A INTRINSIC
Pfam:A2M_N 126 219 3.2e-23 PFAM
low complexity region 327 338 N/A INTRINSIC
A2M_N_2 458 606 6.18e-40 SMART
A2M 750 840 2.27e-38 SMART
Pfam:Thiol-ester_cl 973 1003 4e-19 PFAM
Pfam:A2M_comp 1022 1284 2.1e-90 PFAM
A2M_recep 1395 1482 6.47e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204081
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes mutant null mice show higher bone mineral density, hypoactivity, and decreased heart rate. Mice homozygous for a different null allele show resistance to the lethal effects of endotoxin, increased susceptibility to diet-induced acute pancreatitis, and altered LPS-induced febrile and cytokine responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox8 G T 11: 69,087,864 (GRCm39) Q147K probably benign Het
Ankib1 T A 5: 3,784,152 (GRCm39) M275L possibly damaging Het
Asb2 G A 12: 103,287,922 (GRCm39) P546S possibly damaging Het
B9d1 T C 11: 61,398,449 (GRCm39) probably benign Het
Col12a1 T C 9: 79,557,257 (GRCm39) D1957G possibly damaging Het
Cryzl2 T C 1: 157,299,970 (GRCm39) V44A possibly damaging Het
Fbxw19 A C 9: 109,312,347 (GRCm39) probably benign Het
Gabrb3 T C 7: 57,466,163 (GRCm39) F326L probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm11168 T C 9: 3,005,204 (GRCm39) C16R probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm7808 T A 9: 19,839,542 (GRCm39) probably benign Het
Gpam T C 19: 55,071,806 (GRCm39) I312V probably benign Het
H2-M10.5 A G 17: 37,084,708 (GRCm39) Y144C probably damaging Het
Hivep3 T C 4: 119,952,424 (GRCm39) S247P possibly damaging Het
Hs3st4 T G 7: 123,996,536 (GRCm39) C401G probably damaging Het
Klhl2 A G 8: 65,212,858 (GRCm39) V227A probably damaging Het
Lct T C 1: 128,222,003 (GRCm39) N1512S probably damaging Het
Lipm T A 19: 34,093,911 (GRCm39) L276Q possibly damaging Het
Lmf2 T A 15: 89,236,621 (GRCm39) H515L probably damaging Het
Mccc1 G A 3: 36,030,041 (GRCm39) S423L probably damaging Het
Mettl21e G A 1: 44,250,193 (GRCm39) S71L probably null Het
Muc16 T A 9: 18,406,839 (GRCm39) H251L possibly damaging Het
Neb T C 2: 52,059,852 (GRCm39) probably benign Het
Ntf5 T C 7: 45,065,450 (GRCm39) I194T probably damaging Het
Or10ag58 T C 2: 87,265,314 (GRCm39) I161T possibly damaging Het
Or1o4 A G 17: 37,590,891 (GRCm39) V140A possibly damaging Het
Or2w6 T C 13: 21,842,953 (GRCm39) D180G possibly damaging Het
Or4x11 T C 2: 89,867,478 (GRCm39) S72P probably damaging Het
Or9m1 A T 2: 87,733,675 (GRCm39) L115* probably null Het
Pigv T C 4: 133,392,428 (GRCm39) I247M probably benign Het
Pik3r5 A G 11: 68,383,356 (GRCm39) N392D probably benign Het
Postn A G 3: 54,290,901 (GRCm39) probably null Het
Prl2c5 G A 13: 13,360,402 (GRCm39) S23N probably benign Het
Prpf40b T C 15: 99,204,413 (GRCm39) C220R possibly damaging Het
Rpl23 C A 11: 97,669,177 (GRCm39) R85L probably benign Het
Shcbp1 A G 8: 4,799,721 (GRCm39) S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 (GRCm39) probably null Het
Sptbn4 T C 7: 27,063,571 (GRCm39) E2285G probably damaging Het
Telo2 G T 17: 25,320,332 (GRCm39) T784K probably benign Het
Tnfrsf19 C T 14: 61,234,093 (GRCm39) V136M probably damaging Het
Trpm5 T A 7: 142,628,234 (GRCm39) I22F probably damaging Het
Trpv6 G T 6: 41,603,801 (GRCm39) probably benign Het
Vmn1r173 T G 7: 23,401,877 (GRCm39) H37Q probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpo6 T A 7: 125,773,365 (GRCm39) H20L probably benign Het
Zfp462 T C 4: 55,010,613 (GRCm39) Y860H probably damaging Het
Other mutations in Pzp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Pzp APN 6 128,493,872 (GRCm39) missense probably benign 0.25
IGL01470:Pzp APN 6 128,498,087 (GRCm39) missense probably benign 0.05
IGL01753:Pzp APN 6 128,479,146 (GRCm39) missense possibly damaging 0.78
IGL02307:Pzp APN 6 128,466,049 (GRCm39) nonsense probably null
IGL02338:Pzp APN 6 128,463,133 (GRCm39) missense probably benign 0.07
IGL02546:Pzp APN 6 128,471,662 (GRCm39) splice site probably benign
IGL02598:Pzp APN 6 128,464,420 (GRCm39) missense probably benign 0.00
IGL02699:Pzp APN 6 128,464,364 (GRCm39) critical splice donor site probably null
lilibet UTSW 6 128,490,736 (GRCm39) missense probably damaging 0.99
P4748:Pzp UTSW 6 128,467,052 (GRCm39) missense probably damaging 1.00
PIT4151001:Pzp UTSW 6 128,502,259 (GRCm39) missense probably benign 0.34
PIT4495001:Pzp UTSW 6 128,479,192 (GRCm39) missense probably benign
R0157:Pzp UTSW 6 128,500,939 (GRCm39) nonsense probably null
R0195:Pzp UTSW 6 128,464,441 (GRCm39) missense probably damaging 1.00
R0238:Pzp UTSW 6 128,466,119 (GRCm39) splice site probably benign
R0239:Pzp UTSW 6 128,466,119 (GRCm39) splice site probably benign
R0271:Pzp UTSW 6 128,496,477 (GRCm39) missense probably damaging 1.00
R0299:Pzp UTSW 6 128,472,293 (GRCm39) splice site probably benign
R0744:Pzp UTSW 6 128,493,158 (GRCm39) unclassified probably benign
R0968:Pzp UTSW 6 128,502,108 (GRCm39) missense probably benign 0.00
R1037:Pzp UTSW 6 128,496,389 (GRCm39) missense probably benign 0.01
R1074:Pzp UTSW 6 128,464,887 (GRCm39) missense probably benign 0.20
R1469:Pzp UTSW 6 128,489,319 (GRCm39) missense probably benign 0.04
R1469:Pzp UTSW 6 128,489,319 (GRCm39) missense probably benign 0.04
R1579:Pzp UTSW 6 128,500,931 (GRCm39) critical splice donor site probably null
R1646:Pzp UTSW 6 128,480,518 (GRCm39) missense probably benign 0.33
R1770:Pzp UTSW 6 128,462,580 (GRCm39) missense probably damaging 1.00
R1777:Pzp UTSW 6 128,467,535 (GRCm39) missense possibly damaging 0.85
R1786:Pzp UTSW 6 128,468,124 (GRCm39) splice site probably null
R1854:Pzp UTSW 6 128,479,188 (GRCm39) missense probably damaging 1.00
R2001:Pzp UTSW 6 128,493,083 (GRCm39) missense probably benign 0.01
R2060:Pzp UTSW 6 128,460,673 (GRCm39) missense probably benign 0.45
R2081:Pzp UTSW 6 128,496,383 (GRCm39) missense probably benign 0.00
R2130:Pzp UTSW 6 128,468,124 (GRCm39) splice site probably null
R2131:Pzp UTSW 6 128,468,124 (GRCm39) splice site probably null
R2160:Pzp UTSW 6 128,502,239 (GRCm39) missense probably damaging 1.00
R2168:Pzp UTSW 6 128,465,010 (GRCm39) missense probably damaging 0.98
R2328:Pzp UTSW 6 128,487,353 (GRCm39) missense possibly damaging 0.79
R2441:Pzp UTSW 6 128,466,731 (GRCm39) nonsense probably null
R2866:Pzp UTSW 6 128,502,227 (GRCm39) missense possibly damaging 0.76
R2869:Pzp UTSW 6 128,462,519 (GRCm39) critical splice donor site probably null
R2869:Pzp UTSW 6 128,462,519 (GRCm39) critical splice donor site probably null
R2870:Pzp UTSW 6 128,462,519 (GRCm39) critical splice donor site probably null
R2870:Pzp UTSW 6 128,462,519 (GRCm39) critical splice donor site probably null
R2873:Pzp UTSW 6 128,462,519 (GRCm39) critical splice donor site probably null
R2876:Pzp UTSW 6 128,468,513 (GRCm39) missense probably damaging 1.00
R3404:Pzp UTSW 6 128,490,769 (GRCm39) missense probably damaging 1.00
R4452:Pzp UTSW 6 128,468,203 (GRCm39) missense probably damaging 1.00
R4461:Pzp UTSW 6 128,501,003 (GRCm39) missense probably benign 0.02
R5103:Pzp UTSW 6 128,479,192 (GRCm39) missense probably benign 0.04
R5193:Pzp UTSW 6 128,479,297 (GRCm39) missense probably benign 0.00
R5425:Pzp UTSW 6 128,466,011 (GRCm39) missense probably damaging 0.97
R5465:Pzp UTSW 6 128,463,924 (GRCm39) missense probably damaging 1.00
R5590:Pzp UTSW 6 128,500,759 (GRCm39) missense probably damaging 1.00
R5656:Pzp UTSW 6 128,467,035 (GRCm39) missense probably damaging 0.99
R5697:Pzp UTSW 6 128,502,152 (GRCm39) missense probably benign 0.03
R5854:Pzp UTSW 6 128,483,832 (GRCm39) missense probably benign 0.01
R5994:Pzp UTSW 6 128,468,560 (GRCm39) missense probably damaging 1.00
R6042:Pzp UTSW 6 128,500,977 (GRCm39) missense possibly damaging 0.75
R6054:Pzp UTSW 6 128,490,727 (GRCm39) missense probably benign 0.03
R6153:Pzp UTSW 6 128,465,979 (GRCm39) missense probably benign
R6465:Pzp UTSW 6 128,468,582 (GRCm39) missense probably damaging 1.00
R6719:Pzp UTSW 6 128,501,046 (GRCm39) missense probably benign 0.17
R6722:Pzp UTSW 6 128,464,917 (GRCm39) missense probably damaging 1.00
R7316:Pzp UTSW 6 128,490,736 (GRCm39) missense probably damaging 0.99
R7453:Pzp UTSW 6 128,463,879 (GRCm39) missense probably damaging 1.00
R7826:Pzp UTSW 6 128,464,496 (GRCm39) missense probably benign 0.38
R7878:Pzp UTSW 6 128,489,274 (GRCm39) missense possibly damaging 0.50
R7879:Pzp UTSW 6 128,465,979 (GRCm39) missense probably benign
R8113:Pzp UTSW 6 128,490,694 (GRCm39) splice site probably null
R8163:Pzp UTSW 6 128,489,157 (GRCm39) missense probably benign 0.00
R8471:Pzp UTSW 6 128,464,411 (GRCm39) missense probably benign 0.14
R8680:Pzp UTSW 6 128,473,009 (GRCm39) missense probably benign 0.00
R8795:Pzp UTSW 6 128,471,701 (GRCm39) missense probably damaging 1.00
R8844:Pzp UTSW 6 128,500,950 (GRCm39) missense probably damaging 1.00
R8964:Pzp UTSW 6 128,464,462 (GRCm39) missense probably benign 0.05
R9043:Pzp UTSW 6 128,471,742 (GRCm39) missense probably damaging 1.00
R9172:Pzp UTSW 6 128,502,172 (GRCm39) missense probably benign 0.01
R9205:Pzp UTSW 6 128,473,626 (GRCm39) missense probably benign 0.02
R9276:Pzp UTSW 6 128,499,077 (GRCm39) missense probably damaging 1.00
R9432:Pzp UTSW 6 128,499,128 (GRCm39) missense
R9444:Pzp UTSW 6 128,487,362 (GRCm39) missense
R9517:Pzp UTSW 6 128,489,117 (GRCm39) critical splice donor site probably null
R9721:Pzp UTSW 6 128,472,154 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07