Incidental Mutation 'R2168:Pzp'
ID 235609
Institutional Source Beutler Lab
Gene Symbol Pzp
Ensembl Gene ENSMUSG00000030359
Gene Name PZP, alpha-2-macroglobulin like
Synonyms
MMRRC Submission 040171-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R2168 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 128460530-128503683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 128465010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1288 (T1288M)
Ref Sequence ENSEMBL: ENSMUSP00000107760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112132]
AlphaFold Q61838
Predicted Effect possibly damaging
Transcript: ENSMUST00000032510
AA Change: T1288M

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032510
Gene: ENSMUSG00000030359
AA Change: T1288M

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: T1288M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: T1288M

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: ENSMUST00000204037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204291
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T A 2: 127,720,701 (GRCm39) I188N probably damaging Het
Akr1c14 T C 13: 4,131,106 (GRCm39) V266A probably damaging Het
Als2cl C A 9: 110,717,810 (GRCm39) P301H probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Catspere2 C T 1: 177,843,477 (GRCm39) probably benign Het
Cpsf1 A T 15: 76,487,937 (GRCm39) N53K possibly damaging Het
Ctsll3 C T 13: 60,948,749 (GRCm39) G69R possibly damaging Het
F2 C T 2: 91,458,693 (GRCm39) R539Q probably damaging Het
Fam78b G A 1: 166,906,219 (GRCm39) G126D probably damaging Het
Fancd2 A G 6: 113,568,120 (GRCm39) I1332V possibly damaging Het
Flg2 C T 3: 93,109,244 (GRCm39) S424L probably damaging Het
Fpr1 T C 17: 18,097,471 (GRCm39) T173A possibly damaging Het
Gas2l3 A G 10: 89,249,960 (GRCm39) V386A probably benign Het
Gdap2 A C 3: 100,095,199 (GRCm39) E269A probably benign Het
Igf2bp2 T A 16: 21,898,358 (GRCm39) probably null Het
Ipo11 T C 13: 107,016,118 (GRCm39) probably null Het
Itpr2 G T 6: 146,013,176 (GRCm39) P2667Q probably benign Het
Itsn2 G T 12: 4,683,044 (GRCm39) probably benign Het
Jakmip2 A G 18: 43,698,995 (GRCm39) L488P probably damaging Het
Lrp1b A T 2: 41,265,858 (GRCm39) C248S probably damaging Het
Lrrc17 A T 5: 21,780,046 (GRCm39) D340V probably damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mrc1 T C 2: 14,249,015 (GRCm39) S184P possibly damaging Het
Msh4 A T 3: 153,573,472 (GRCm39) Y533* probably null Het
Mug1 A G 6: 121,847,458 (GRCm39) N612S probably benign Het
Nectin2 G T 7: 19,464,539 (GRCm39) S288R probably damaging Het
Neurog2 A T 3: 127,427,754 (GRCm39) H126L probably damaging Het
Nol10 A T 12: 17,423,585 (GRCm39) E310V probably damaging Het
Or1f12 T G 13: 21,721,422 (GRCm39) K251T probably damaging Het
Or4c29 A G 2: 88,740,522 (GRCm39) S72P probably damaging Het
Or51h7 A T 7: 102,591,678 (GRCm39) F35L probably benign Het
Or5h23 T A 16: 58,905,949 (GRCm39) K299I probably benign Het
Pappa A C 4: 65,074,682 (GRCm39) D412A probably damaging Het
Pcdhb7 T A 18: 37,476,335 (GRCm39) F490L probably benign Het
Pcsk1 T A 13: 75,260,653 (GRCm39) probably benign Het
Plekhn1 T A 4: 156,306,339 (GRCm39) D577V probably damaging Het
Prrc2c C A 1: 162,537,903 (GRCm39) probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Radil A C 5: 142,492,718 (GRCm39) H63Q probably benign Het
Rai1 T C 11: 60,078,422 (GRCm39) S829P probably benign Het
Rd3 A G 1: 191,715,488 (GRCm39) I88V probably damaging Het
Rfesd T C 13: 76,156,244 (GRCm39) D54G probably damaging Het
Rnf213 A C 11: 119,305,896 (GRCm39) K568T probably damaging Het
Scaper T A 9: 55,650,923 (GRCm39) K913N probably damaging Het
Serpina3c T C 12: 104,115,628 (GRCm39) probably null Het
Serpinb6d A T 13: 33,850,357 (GRCm39) K61N probably benign Het
Skint4 A T 4: 111,944,183 (GRCm39) probably null Het
Sod1 T C 16: 90,017,801 (GRCm39) I19T possibly damaging Het
Stfa3 C A 16: 36,271,042 (GRCm39) G81* probably null Het
Ubr4 A G 4: 139,137,960 (GRCm39) T1106A probably benign Het
Uggt2 T A 14: 119,256,917 (GRCm39) N1106Y probably damaging Het
Vmn1r217 G A 13: 23,298,714 (GRCm39) Q63* probably null Het
Vmn2r129 A T 4: 156,690,673 (GRCm39) noncoding transcript Het
Vps13b C A 15: 35,792,334 (GRCm39) P2201T probably damaging Het
Vps13b C A 15: 35,792,335 (GRCm39) P2201Q probably damaging Het
Vps13d G T 4: 144,813,893 (GRCm39) probably benign Het
Zer1 A G 2: 29,994,887 (GRCm39) C503R probably damaging Het
Zfp369 T C 13: 65,444,762 (GRCm39) V635A probably benign Het
Zfp608 A T 18: 55,031,125 (GRCm39) Y938* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- ATGAAACATTTCCTCTCCCACATG -3'
(R):5'- CCTGAAGTAGCTAGATTGGGTCC -3'

Sequencing Primer
(F):5'- CCACATGCCCATTCTCTGG -3'
(R):5'- AAGTAGCTAGATTGGGTCCCCATTAG -3'
Posted On 2014-10-01