Incidental Mutation 'R7878:Pzp'
ID 608571
Institutional Source Beutler Lab
Gene Symbol Pzp
Ensembl Gene ENSMUSG00000030359
Gene Name PZP, alpha-2-macroglobulin like
Synonyms
MMRRC Submission 045930-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R7878 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 128460530-128503683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128489274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 446 (S446P)
Ref Sequence ENSEMBL: ENSMUSP00000107760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112132]
AlphaFold Q61838
Predicted Effect possibly damaging
Transcript: ENSMUST00000112132
AA Change: S446P

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359
AA Change: S446P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 G A 10: 20,857,330 (GRCm39) probably null Het
Ak7 T A 12: 105,733,008 (GRCm39) I584N probably damaging Het
Akip1 A T 7: 109,306,609 (GRCm39) Y102F probably damaging Het
Alg9 T C 9: 50,754,083 (GRCm39) Y588H probably benign Het
Arid1a A T 4: 133,414,582 (GRCm39) N831K unknown Het
Bcl2l11 T A 2: 127,970,608 (GRCm39) L19* probably null Het
Btn1a1 T C 13: 23,643,214 (GRCm39) T412A possibly damaging Het
Ccbe1 T C 18: 66,209,462 (GRCm39) N193D possibly damaging Het
Ccdc168 T C 1: 44,095,174 (GRCm39) S1975G probably benign Het
Cd96 A G 16: 45,938,139 (GRCm39) S109P probably damaging Het
Cdh23 A C 10: 60,149,979 (GRCm39) I2622S possibly damaging Het
Cmya5 G T 13: 93,226,265 (GRCm39) T2941K probably damaging Het
Cntn1 T C 15: 92,192,934 (GRCm39) Y679H probably damaging Het
Cpsf1 A G 15: 76,484,700 (GRCm39) V619A probably damaging Het
Elp5 T A 11: 69,861,425 (GRCm39) I185F probably damaging Het
Frem1 A G 4: 82,938,917 (GRCm39) V55A probably benign Het
Kif1b A T 4: 149,299,454 (GRCm39) Y985N probably damaging Het
Lao1 A G 4: 118,824,619 (GRCm39) N234D probably benign Het
Lima1 C T 15: 99,717,431 (GRCm39) V192I probably benign Het
Lrp2 T G 2: 69,338,153 (GRCm39) D1209A probably damaging Het
Lrp2 C A 2: 69,338,154 (GRCm39) D1209Y probably damaging Het
Luzp1 A G 4: 136,269,163 (GRCm39) H462R probably benign Het
Mab21l1 A T 3: 55,691,438 (GRCm39) T342S probably benign Het
Mst1 T C 9: 107,961,812 (GRCm39) V657A probably benign Het
Mtmr11 A G 3: 96,076,515 (GRCm39) K490R probably benign Het
Myh3 A G 11: 66,978,077 (GRCm39) D383G probably damaging Het
Nectin1 G A 9: 43,715,198 (GRCm39) G478D probably benign Het
Nrip1 A G 16: 76,091,554 (GRCm39) M1T probably null Het
Odad1 A G 7: 45,573,984 (GRCm39) E17G possibly damaging Het
Odad2 G T 18: 7,217,801 (GRCm39) H638N probably benign Het
Or1j10 A G 2: 36,267,145 (GRCm39) D119G probably damaging Het
Or52z15 A T 7: 103,332,471 (GRCm39) H182L probably damaging Het
Pnisr C A 4: 21,874,370 (GRCm39) F704L unknown Het
Ptpn21 T A 12: 98,681,387 (GRCm39) K82N probably damaging Het
Pyroxd2 T G 19: 42,731,104 (GRCm39) probably null Het
Rbck1 T A 2: 152,160,330 (GRCm39) I450F probably damaging Het
Rnase4 T A 14: 51,342,333 (GRCm39) L19Q probably damaging Het
Rrp9 A G 9: 106,358,516 (GRCm39) E118G probably damaging Het
Sec22a A G 16: 35,168,005 (GRCm39) S169P probably benign Het
Sema5b G A 16: 35,481,996 (GRCm39) S957N probably benign Het
Serpina3g A T 12: 104,204,361 (GRCm39) probably benign Het
Skint2 A T 4: 112,506,942 (GRCm39) I322F possibly damaging Het
Spata31h1 G A 10: 82,119,856 (GRCm39) R4385W probably benign Het
Sspo G A 6: 48,469,460 (GRCm39) C4471Y probably damaging Het
Stk16 T A 1: 75,189,589 (GRCm39) L167* probably null Het
Tanc2 G A 11: 105,804,241 (GRCm39) R245H Het
Tdpoz1 G A 3: 93,578,431 (GRCm39) Q118* probably null Het
Tekt3 C T 11: 62,961,277 (GRCm39) R149* probably null Het
Tenm4 A G 7: 96,501,564 (GRCm39) E1256G probably damaging Het
Tie1 G A 4: 118,335,621 (GRCm39) R791C probably damaging Het
Tpr T A 1: 150,299,411 (GRCm39) S1204T possibly damaging Het
Trim28 G T 7: 12,758,289 (GRCm39) probably benign Het
Ucp1 A G 8: 84,024,521 (GRCm39) N282S probably benign Het
Unc80 T A 1: 66,640,300 (GRCm39) D1402E possibly damaging Het
Vmn1r69 T A 7: 10,314,717 (GRCm39) T5S probably benign Het
Zfyve28 T A 5: 34,356,999 (GRCm39) K733M 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
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
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
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'- GCAGTGACTTTCATTCTTACCAG -3'
(R):5'- AAAACGTGTACATGGGCTTTG -3'

Sequencing Primer
(F):5'- CGAATCTCCTGAGTTTGC -3'
(R):5'- CTGTGAGTTTTAAAGCCACCCTGAG -3'
Posted On 2019-12-20