Incidental Mutation 'R2873:Pzp'
ID 260406
Institutional Source Beutler Lab
Gene Symbol Pzp
Ensembl Gene ENSMUSG00000030359
Gene Name PZP, alpha-2-macroglobulin like
Synonyms
MMRRC Submission 040461-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R2873 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 128460530-128503683 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 128462519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112132]
AlphaFold Q61838
Predicted Effect probably null
Transcript: ENSMUST00000032510
SMART Domains Protein: ENSMUSP00000032510
Gene: ENSMUSG00000030359

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 null
Transcript: ENSMUST00000112132
SMART Domains Protein: ENSMUSP00000107760
Gene: ENSMUSG00000030359

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (81/81)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,846,002 (GRCm39) C811R possibly damaging Het
Acvr1 G A 2: 58,367,808 (GRCm39) Q118* probably null Het
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
Ankrd40 T C 11: 94,224,771 (GRCm39) V60A possibly damaging Het
Armc2 C T 10: 41,842,696 (GRCm39) probably null Het
Atp12a A G 14: 56,624,407 (GRCm39) R952G possibly damaging Het
Atp13a2 T C 4: 140,730,294 (GRCm39) I773T probably benign Het
Atp6v1g1 A G 4: 63,468,258 (GRCm39) Y87C probably benign Het
Ccdc162 G T 10: 41,531,095 (GRCm39) T537N possibly damaging Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cd101 A T 3: 100,911,164 (GRCm39) D831E probably benign Het
Ch25h T A 19: 34,452,210 (GRCm39) H106L probably benign Het
Chek2 C A 5: 111,011,202 (GRCm39) Y333* probably null Het
Cimap1d G A 10: 79,481,487 (GRCm39) T14I probably benign Het
Csmd2 T C 4: 128,451,511 (GRCm39) F113S unknown Het
Cyp4a14 C A 4: 115,344,498 (GRCm39) G456W probably damaging Het
Cyp4a30b A G 4: 115,315,559 (GRCm39) H260R possibly damaging Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Flnc A G 6: 29,447,542 (GRCm39) D1115G probably damaging Het
Ftdc1 A T 16: 58,434,342 (GRCm39) I125K probably benign Het
Gbp11 C T 5: 105,478,866 (GRCm39) D191N probably benign Het
Gm5519 A C 19: 33,802,410 (GRCm39) D151A possibly damaging Het
Grid2ip C A 5: 143,343,684 (GRCm39) Q127K probably benign Het
Hdhd2 T C 18: 77,042,702 (GRCm39) F44L probably damaging Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Kpna7 T C 5: 144,930,745 (GRCm39) T367A probably benign Het
Matr3 T A 18: 35,705,349 (GRCm39) S91R probably benign Het
Mdm1 A G 10: 117,986,847 (GRCm39) T267A probably benign Het
Mlxip A G 5: 123,590,730 (GRCm39) M878V probably benign Het
Mtor T A 4: 148,624,487 (GRCm39) M2089K probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Ndufs1 A G 1: 63,203,882 (GRCm39) probably benign Het
Nlrp4b C T 7: 10,444,170 (GRCm39) Q40* probably null Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Notch1 A G 2: 26,350,247 (GRCm39) C2298R possibly damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Or10g1 T G 14: 52,648,318 (GRCm39) T4P probably benign Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pcdhga9 T A 18: 37,870,524 (GRCm39) Y118N possibly damaging Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Plekhg5 T A 4: 152,191,960 (GRCm39) C433S probably benign Het
Plin2 A G 4: 86,586,915 (GRCm39) M1T probably null Het
Pms2 G A 5: 143,848,732 (GRCm39) probably benign Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Ptger4 T C 15: 5,264,286 (GRCm39) R457G probably benign Het
Ralgds A G 2: 28,438,781 (GRCm39) probably null Het
Rnf6 T C 5: 146,147,215 (GRCm39) Y601C probably benign Het
Sgk2 A G 2: 162,836,449 (GRCm39) probably benign Het
Shoc1 A C 4: 59,093,850 (GRCm39) L226R probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Slc4a4 G T 5: 89,283,623 (GRCm39) V481L probably damaging Het
Slc5a8 A G 10: 88,740,825 (GRCm39) I247V probably benign Het
Slit3 G T 11: 35,435,620 (GRCm39) E184* probably null Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
St7 C T 6: 17,819,276 (GRCm39) P60L probably damaging Het
Tafa2 A T 10: 123,540,270 (GRCm39) H42L possibly damaging Het
Tbc1d8 A G 1: 39,444,398 (GRCm39) F187S probably damaging Het
Tet2 C T 3: 133,192,715 (GRCm39) G573E probably damaging Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Trpa1 A G 1: 14,957,844 (GRCm39) C705R probably damaging Het
Usp9y T A Y: 1,310,502 (GRCm39) probably benign Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Ybx3 G A 6: 131,347,376 (GRCm39) A253V probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D probably benign 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
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'- CTAAGGCTTGTTTAAGGTGCTC -3'
(R):5'- AATGGGACCAGGACTGATCTG -3'

Sequencing Primer
(F):5'- GTTTAAGGTGCTCCCAAGAGATC -3'
(R):5'- GCTAAATTTCTGGCACTAGACC -3'
Posted On 2015-01-23