Incidental Mutation 'IGL02307:Pzp'
ID 287629
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 # IGL02307
Quality Score
Status
Chromosome 6
Chromosomal Location 128460530-128503683 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 128466049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1210 (Y1210*)
Ref Sequence ENSEMBL: ENSMUSP00000107760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112132]
AlphaFold Q61838
Predicted Effect probably null
Transcript: ENSMUST00000112132
AA Change: Y1210*
SMART Domains Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: Y1210*

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: ENSMUST00000204037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204291
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,935,395 (GRCm39) D323G probably damaging Het
Ankrd28 A G 14: 31,455,665 (GRCm39) C417R probably damaging Het
Astn1 C T 1: 158,502,184 (GRCm39) R1133C probably damaging Het
Bdp1 C A 13: 100,229,946 (GRCm39) G256V probably damaging Het
Cald1 A G 6: 34,730,390 (GRCm39) K252E probably damaging Het
Ccdc141 T C 2: 76,859,686 (GRCm39) E985G probably damaging Het
Cdc23 A G 18: 34,774,442 (GRCm39) I279T possibly damaging Het
Col16a1 C T 4: 129,952,802 (GRCm39) P416L probably damaging Het
Coro1a T C 7: 126,300,736 (GRCm39) D197G probably damaging Het
Ctnnd2 C T 15: 30,647,357 (GRCm39) T351I possibly damaging Het
Fam76b A G 9: 13,755,332 (GRCm39) N313S probably damaging Het
Fbxw20 C A 9: 109,062,601 (GRCm39) W75L possibly damaging Het
Gjd2 T C 2: 113,842,394 (GRCm39) T28A possibly damaging Het
Glyctk A C 9: 106,032,963 (GRCm39) L350R possibly damaging Het
Gm20726 A T 14: 54,870,060 (GRCm39) V237D probably damaging Het
Gm57858 T C 3: 36,073,016 (GRCm39) K422R possibly damaging Het
Gpr22 C A 12: 31,758,739 (GRCm39) C461F possibly damaging Het
Grhl2 A G 15: 37,288,532 (GRCm39) T279A probably damaging Het
Gstm3 G A 3: 107,874,929 (GRCm39) R108C probably damaging Het
Haus6 T C 4: 86,502,072 (GRCm39) T600A possibly damaging Het
Htra4 G A 8: 25,523,710 (GRCm39) A285V probably damaging Het
Igkv14-100 C T 6: 68,496,349 (GRCm39) P81S probably damaging Het
Kif24 T G 4: 41,395,274 (GRCm39) Q533P probably benign Het
Klhl1 A T 14: 96,438,809 (GRCm39) N496K possibly damaging Het
Lama3 G T 18: 12,714,840 (GRCm39) R1667L probably benign Het
Lct T A 1: 128,214,327 (GRCm39) H1815L possibly damaging Het
Mrgprb2 T A 7: 48,202,644 (GRCm39) Y27F probably benign Het
Mrpl15 A T 1: 4,854,176 (GRCm39) H86Q possibly damaging Het
Myo10 C T 15: 25,776,401 (GRCm39) probably benign Het
Nrp1 T C 8: 129,229,201 (GRCm39) L893P probably damaging Het
Or4n4b A C 14: 50,536,295 (GRCm39) I157S probably damaging Het
Or51a8 A T 7: 102,550,086 (GRCm39) N171Y probably benign Het
Ovol1 T A 19: 5,603,643 (GRCm39) D86V possibly damaging Het
Pacs2 T A 12: 113,034,393 (GRCm39) M851K probably damaging Het
Pde1a A T 2: 79,736,412 (GRCm39) M39K possibly damaging Het
Pdpn T C 4: 143,000,550 (GRCm39) H94R possibly damaging Het
Plcg2 T A 8: 118,306,635 (GRCm39) probably null Het
Rnf148 G T 6: 23,654,890 (GRCm39) S35R probably benign Het
Ros1 A T 10: 52,004,534 (GRCm39) S1008T possibly damaging Het
Rps18-ps6 G T 13: 97,896,871 (GRCm39) Q76K probably benign Het
Sis A T 3: 72,819,167 (GRCm39) probably benign Het
Spag9 T A 11: 93,992,986 (GRCm39) probably null Het
Srbd1 A G 17: 86,433,616 (GRCm39) L327P probably damaging Het
Steap3 A T 1: 120,169,390 (GRCm39) Y264* probably null Het
Swap70 A G 7: 109,880,501 (GRCm39) E572G probably benign Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Trmt11 T C 10: 30,470,150 (GRCm39) D58G possibly damaging Het
Tsc22d1 T C 14: 76,653,901 (GRCm39) S127P probably damaging Het
Usf1 T A 1: 171,243,314 (GRCm39) S30R probably damaging Het
Ush1c A G 7: 45,846,612 (GRCm39) probably benign Het
Utrn A T 10: 12,625,809 (GRCm39) L124* probably null Het
Vmn2r75 T C 7: 85,814,974 (GRCm39) N173S probably benign Het
Zic2 T C 14: 122,714,046 (GRCm39) V320A possibly 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
IGL01878:Pzp APN 6 128,472,261 (GRCm39) missense probably damaging 1.00
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 2015-04-16