Incidental Mutation 'IGL01013:Hp'
ID 53726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hp
Ensembl Gene ENSMUSG00000031722
Gene Name haptoglobin
Synonyms preHP2, HP-1, zonulin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # IGL01013
Quality Score
Status
Chromosome 8
Chromosomal Location 110301760-110305804 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) C to A at 110305653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000074436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034159] [ENSMUST00000074898]
AlphaFold Q61646
Predicted Effect probably benign
Transcript: ENSMUST00000034159
SMART Domains Protein: ENSMUSP00000034159
Gene: ENSMUSG00000031723

DomainStartEndE-ValueType
Pfam:DIM1 4 136 1.6e-58 PFAM
Pfam:Thioredoxin 6 109 3.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074898
SMART Domains Protein: ENSMUSP00000074436
Gene: ENSMUSG00000031722

DomainStartEndE-ValueType
CCP 33 86 2.9e0 SMART
Tryp_SPc 102 340 4.38e-48 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212918
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a plasma glycoprotein called haptoglobin that binds free hemoglobin. The encoded preproprotein undergoes proteolytic processing to generate alpha and beta subunits that form a disulfide-linked tetrameric protein that plays an important role in the sequestration and clearance of extracorpuscular hemoglobin. Mice lacking the encoded protein exhibit stunted development of lymphoid organs associated with lower counts of mature T and B cells in the blood and secondary lymphoid compartments. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a null allele exhibit partial postnatal lethality, susceptibility to induced acute hemolysis, and altered renal iron loading during aging and after ischemic injury. Homozygotes for a knock-in allele show reduced cholesterol efflux and enhanced nephropathy in STZ-induced diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 77,034,053 (GRCm39) E499D possibly damaging Het
Abca1 A T 4: 53,038,185 (GRCm39) L2059* probably null Het
Ankar T A 1: 72,690,148 (GRCm39) I1228F possibly damaging Het
Appl1 A T 14: 26,671,433 (GRCm39) Y340N possibly damaging Het
Atp8b4 C A 2: 126,165,007 (GRCm39) R1103L probably benign Het
B4galt6 A G 18: 20,822,070 (GRCm39) V308A probably damaging Het
Ccdc162 G A 10: 41,457,335 (GRCm39) P1534L probably benign Het
Ccdc78 A G 17: 26,008,028 (GRCm39) E313G possibly damaging Het
Cep57l1 G A 10: 41,616,865 (GRCm39) R141* probably null Het
Cpsf1 G A 15: 76,483,497 (GRCm39) Q883* probably null Het
Crot A G 5: 9,043,575 (GRCm39) Y16H probably benign Het
Cyld T G 8: 89,468,990 (GRCm39) L587R probably damaging Het
Fam114a1 G A 5: 65,188,738 (GRCm39) probably null Het
Fam89b G T 19: 5,779,397 (GRCm39) D53E probably benign Het
Fig4 T C 10: 41,143,782 (GRCm39) M226V probably benign Het
Gm10722 A T 9: 3,002,230 (GRCm39) Y184F probably damaging Het
Igsf9b G T 9: 27,245,600 (GRCm39) R1189L probably damaging Het
Ilf3 A G 9: 21,310,987 (GRCm39) N620D possibly damaging Het
Jakmip3 A C 7: 138,619,302 (GRCm39) E228A possibly damaging Het
Kpna3 A T 14: 61,607,966 (GRCm39) I413K probably damaging Het
Letm1 A T 5: 33,919,934 (GRCm39) C202S possibly damaging Het
Lmod2 C A 6: 24,604,134 (GRCm39) Q370K probably damaging Het
Map4k5 T C 12: 69,874,300 (GRCm39) probably benign Het
Mcidas T A 13: 113,134,119 (GRCm39) probably benign Het
Mme A G 3: 63,235,281 (GRCm39) probably null Het
Mrc1 T C 2: 14,333,236 (GRCm39) W1306R probably damaging Het
Mthfd1l C A 10: 3,980,716 (GRCm39) Q473K probably damaging Het
Muc6 A T 7: 141,234,333 (GRCm39) C719* probably null Het
Nsun7 T C 5: 66,440,944 (GRCm39) I355T possibly damaging Het
Padi6 A G 4: 140,456,314 (GRCm39) L560P probably damaging Het
Parl C A 16: 20,101,540 (GRCm39) A285S possibly damaging Het
Pclo A T 5: 14,843,848 (GRCm39) M4795L unknown Het
Polr2f A G 15: 79,030,329 (GRCm39) Y56C probably damaging Het
Rasgrp2 A T 19: 6,454,413 (GRCm39) H152L probably damaging Het
Rpl10l T C 12: 66,331,001 (GRCm39) D44G probably benign Het
Slc25a16 A G 10: 62,780,212 (GRCm39) probably null Het
Snrnp200 G A 2: 127,074,392 (GRCm39) E1411K probably damaging Het
Tanc2 G A 11: 105,515,891 (GRCm39) R3Q probably damaging Het
Tbc1d32 G T 10: 56,078,055 (GRCm39) probably null Het
Tcf7l2 T C 19: 55,908,059 (GRCm39) probably benign Het
Tnrc6c G T 11: 117,612,855 (GRCm39) V498L probably benign Het
Tymp G A 15: 89,260,513 (GRCm39) H102Y probably damaging Het
Wdr76 T C 2: 121,365,978 (GRCm39) S492P probably benign Het
Zc3h12d T C 10: 7,715,720 (GRCm39) I41T probably damaging Het
Other mutations in Hp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Hp APN 8 110,302,250 (GRCm39) splice site probably null
IGL00951:Hp APN 8 110,304,129 (GRCm39) missense possibly damaging 0.71
IGL01096:Hp APN 8 110,302,033 (GRCm39) missense probably benign
IGL01307:Hp APN 8 110,302,415 (GRCm39) missense probably benign 0.05
IGL02997:Hp APN 8 110,302,418 (GRCm39) missense probably damaging 1.00
IGL03378:Hp APN 8 110,302,339 (GRCm39) missense probably damaging 0.99
R1349:Hp UTSW 8 110,301,938 (GRCm39) missense probably benign 0.00
R1691:Hp UTSW 8 110,302,204 (GRCm39) missense probably benign 0.09
R4741:Hp UTSW 8 110,302,104 (GRCm39) nonsense probably null
R6036:Hp UTSW 8 110,303,406 (GRCm39) splice site probably null
R6036:Hp UTSW 8 110,303,406 (GRCm39) splice site probably null
R6689:Hp UTSW 8 110,302,352 (GRCm39) missense probably benign 0.00
R7426:Hp UTSW 8 110,301,832 (GRCm39) splice site probably null
R7683:Hp UTSW 8 110,305,731 (GRCm39) start gained probably benign
R7943:Hp UTSW 8 110,302,187 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-28