Incidental Mutation 'IGL02546:Pzp'
ID297850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pzp
Ensembl Gene ENSMUSG00000030359
Gene NamePZP, alpha-2-macroglobulin like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL02546
Quality Score
Status
Chromosome6
Chromosomal Location128483567-128526720 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 128494699 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112132]
Predicted Effect probably benign
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: 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik A T 10: 22,066,927 W385R probably damaging Het
A730017C20Rik T A 18: 59,072,275 M45K probably damaging Het
Akap6 G T 12: 52,880,738 V144L probably damaging Het
Carmil1 A T 13: 24,115,499 N347K probably damaging Het
Cyp4a32 A G 4: 115,611,323 Y334C probably damaging Het
Dmxl2 C A 9: 54,366,414 probably benign Het
Eps8 C T 6: 137,479,066 A806T probably benign Het
Evl A G 12: 108,648,419 N24S possibly damaging Het
Fbxo15 T C 18: 84,962,722 probably null Het
Gm14179 A T 11: 99,743,193 Het
Hepacam2 A G 6: 3,483,568 V147A possibly damaging Het
Jmjd1c C A 10: 67,225,336 P1156Q possibly damaging Het
Mab21l3 A T 3: 101,823,308 V205E probably damaging Het
Mad2l1 T C 6: 66,535,967 I28T probably damaging Het
Mroh9 T A 1: 163,080,576 I2F probably benign Het
Msr1 A T 8: 39,615,747 I302K probably benign Het
Msrb3 C T 10: 120,850,001 V80I possibly damaging Het
Ncf4 A G 15: 78,261,019 D269G probably damaging Het
Nsl1 T A 1: 191,071,201 H156Q probably benign Het
Nutm1 T C 2: 112,248,324 D1082G probably benign Het
Olfr812 T A 10: 129,842,547 D165V probably damaging Het
Olfr835 T A 9: 19,035,354 V77D possibly damaging Het
Orc4 T C 2: 48,917,284 I212V probably null Het
Pde6c A G 19: 38,140,040 I184V probably benign Het
Pfkfb3 A T 2: 11,488,778 F129Y probably damaging Het
Ppp3cb T C 14: 20,501,554 D493G probably benign Het
Psg29 A G 7: 17,208,782 Y236C probably damaging Het
Sgf29 T A 7: 126,671,853 V180E probably damaging Het
Sh3bp4 A G 1: 89,143,544 probably benign Het
Slc39a2 A T 14: 51,895,163 T188S probably benign Het
Slc6a13 G T 6: 121,333,364 M327I probably benign Het
Slitrk6 T A 14: 110,749,794 H827L probably benign Het
Thumpd2 T G 17: 81,054,455 K114T probably benign Het
Tnfrsf19 A T 14: 60,973,538 C234S possibly damaging Het
Tns2 A G 15: 102,110,940 D446G probably damaging Het
Tpm4 A G 8: 72,144,703 E137G probably damaging Het
Ttn G A 2: 76,795,557 R13307C probably damaging Het
Ubqln3 A G 7: 104,142,518 S122P probably benign Het
Ubr5 T C 15: 38,008,747 D1080G probably benign Het
Ulk4 A T 9: 121,152,307 L886* probably null Het
Unc80 T C 1: 66,554,953 S1164P possibly damaging Het
Uspl1 T C 5: 149,204,304 V371A possibly damaging Het
Virma T C 4: 11,494,804 V35A probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp787 A T 7: 6,132,298 I318N probably damaging Het
Other mutations in Pzp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Pzp APN 6 128516909 missense probably benign 0.25
IGL01470:Pzp APN 6 128521124 missense probably benign 0.05
IGL01753:Pzp APN 6 128502183 missense possibly damaging 0.78
IGL01878:Pzp APN 6 128495298 missense probably damaging 1.00
IGL02307:Pzp APN 6 128489086 nonsense probably null
IGL02338:Pzp APN 6 128486170 missense probably benign 0.07
IGL02598:Pzp APN 6 128487457 missense probably benign 0.00
IGL02699:Pzp APN 6 128487401 critical splice donor site probably null
lilibet UTSW 6 128513773 missense probably damaging 0.99
P4748:Pzp UTSW 6 128490089 missense probably damaging 1.00
PIT4151001:Pzp UTSW 6 128525296 missense probably benign 0.34
PIT4495001:Pzp UTSW 6 128502229 missense probably benign
R0157:Pzp UTSW 6 128523976 nonsense probably null
R0195:Pzp UTSW 6 128487478 missense probably damaging 1.00
R0238:Pzp UTSW 6 128489156 splice site probably benign
R0239:Pzp UTSW 6 128489156 splice site probably benign
R0271:Pzp UTSW 6 128519514 missense probably damaging 1.00
R0299:Pzp UTSW 6 128495330 splice site probably benign
R0744:Pzp UTSW 6 128516195 unclassified probably benign
R0968:Pzp UTSW 6 128525145 missense probably benign 0.00
R1037:Pzp UTSW 6 128519426 missense probably benign 0.01
R1074:Pzp UTSW 6 128487924 missense probably benign 0.20
R1469:Pzp UTSW 6 128512356 missense probably benign 0.04
R1469:Pzp UTSW 6 128512356 missense probably benign 0.04
R1579:Pzp UTSW 6 128523968 critical splice donor site probably null
R1646:Pzp UTSW 6 128503555 missense probably benign 0.33
R1770:Pzp UTSW 6 128485617 missense probably damaging 1.00
R1777:Pzp UTSW 6 128490572 missense possibly damaging 0.85
R1786:Pzp UTSW 6 128491161 splice site probably null
R1854:Pzp UTSW 6 128502225 missense probably damaging 1.00
R2001:Pzp UTSW 6 128516120 missense probably benign 0.01
R2060:Pzp UTSW 6 128483710 missense probably benign 0.45
R2081:Pzp UTSW 6 128519420 missense probably benign 0.00
R2130:Pzp UTSW 6 128491161 splice site probably null
R2131:Pzp UTSW 6 128491161 splice site probably null
R2160:Pzp UTSW 6 128525276 missense probably damaging 1.00
R2168:Pzp UTSW 6 128488047 missense probably damaging 0.98
R2328:Pzp UTSW 6 128510390 missense possibly damaging 0.79
R2441:Pzp UTSW 6 128489768 nonsense probably null
R2866:Pzp UTSW 6 128525264 missense possibly damaging 0.76
R2869:Pzp UTSW 6 128485556 critical splice donor site probably null
R2869:Pzp UTSW 6 128485556 critical splice donor site probably null
R2870:Pzp UTSW 6 128485556 critical splice donor site probably null
R2870:Pzp UTSW 6 128485556 critical splice donor site probably null
R2873:Pzp UTSW 6 128485556 critical splice donor site probably null
R2876:Pzp UTSW 6 128491550 missense probably damaging 1.00
R3404:Pzp UTSW 6 128513806 missense probably damaging 1.00
R4452:Pzp UTSW 6 128491240 missense probably damaging 1.00
R4461:Pzp UTSW 6 128524040 missense probably benign 0.02
R5103:Pzp UTSW 6 128502229 missense probably benign 0.04
R5193:Pzp UTSW 6 128502334 missense probably benign 0.00
R5425:Pzp UTSW 6 128489048 missense probably damaging 0.97
R5465:Pzp UTSW 6 128486961 missense probably damaging 1.00
R5590:Pzp UTSW 6 128523796 missense probably damaging 1.00
R5656:Pzp UTSW 6 128490072 missense probably damaging 0.99
R5697:Pzp UTSW 6 128525189 missense probably benign 0.03
R5854:Pzp UTSW 6 128506869 missense probably benign 0.01
R5994:Pzp UTSW 6 128491597 missense probably damaging 1.00
R6042:Pzp UTSW 6 128524014 missense possibly damaging 0.75
R6054:Pzp UTSW 6 128513764 missense probably benign 0.03
R6153:Pzp UTSW 6 128489016 missense probably benign
R6465:Pzp UTSW 6 128491619 missense probably damaging 1.00
R6719:Pzp UTSW 6 128524083 missense probably benign 0.17
R6722:Pzp UTSW 6 128487954 missense probably damaging 1.00
R7316:Pzp UTSW 6 128513773 missense probably damaging 0.99
R7453:Pzp UTSW 6 128486916 missense probably damaging 1.00
R7826:Pzp UTSW 6 128487533 missense probably benign 0.38
R7878:Pzp UTSW 6 128512311 missense possibly damaging 0.50
R7879:Pzp UTSW 6 128489016 missense probably benign
R7961:Pzp UTSW 6 128512311 missense possibly damaging 0.50
R7962:Pzp UTSW 6 128489016 missense probably benign
Posted On2015-04-16