Incidental Mutation 'IGL00799:Hp'
ID 11328
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: 0.134) question?
Stock # IGL00799
Quality Score
Status
Chromosome 8
Chromosomal Location 110301760-110305804 bp(-) (GRCm39)
Type of Mutation splice site (2095 bp from exon)
DNA Base Change (assembly) A to G at 110302250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034159] [ENSMUST00000074898] [ENSMUST00000178445]
AlphaFold Q61646
Predicted Effect probably null
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
AA Change: F233L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000074436
Gene: ENSMUSG00000031722
AA Change: F233L

DomainStartEndE-ValueType
CCP 33 86 2.9e0 SMART
Tryp_SPc 102 340 4.38e-48 SMART
Predicted Effect probably null
Transcript: ENSMUST00000178445
SMART Domains Protein: ENSMUSP00000137524
Gene: ENSMUSG00000031723

DomainStartEndE-ValueType
Pfam:DIM1 4 136 1.2e-58 PFAM
Pfam:Thioredoxin 6 110 2.2e-7 PFAM
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 A T 4: 144,281,843 (GRCm39) H316Q probably benign Het
Boc G T 16: 44,313,318 (GRCm39) D515E probably benign Het
Cenpe T A 3: 134,934,678 (GRCm39) probably null Het
Ctcf A G 8: 106,403,968 (GRCm39) D608G unknown Het
Dab2ip A G 2: 35,597,787 (GRCm39) I99V probably benign Het
Ecpas T A 4: 58,828,047 (GRCm39) I981F possibly damaging Het
Ehd2 C T 7: 15,697,392 (GRCm39) A139T possibly damaging Het
Fam151b C A 13: 92,614,361 (GRCm39) K42N probably damaging Het
Gapvd1 A T 2: 34,589,872 (GRCm39) D1002E probably benign Het
Gusb T C 5: 130,028,222 (GRCm39) Y290C probably damaging Het
Hoxd10 A G 2: 74,522,786 (GRCm39) S155G probably benign Het
Ift122 T C 6: 115,854,497 (GRCm39) S112P probably damaging Het
Iqgap2 A G 13: 95,794,452 (GRCm39) probably benign Het
Mtbp T A 15: 55,480,904 (GRCm39) L290* probably null Het
Nr5a2 T A 1: 136,818,536 (GRCm39) D330V probably damaging Het
R3hdm1 T A 1: 128,102,700 (GRCm39) L157Q probably damaging Het
Rad21 A T 15: 51,839,521 (GRCm39) D116E possibly damaging Het
Slc23a3 A T 1: 75,109,925 (GRCm39) I114N possibly damaging Het
Syne1 A G 10: 5,347,878 (GRCm38) I1140L probably benign Het
Other mutations in Hp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Hp APN 8 110,304,129 (GRCm39) missense possibly damaging 0.71
IGL01013:Hp APN 8 110,305,653 (GRCm39) utr 5 prime probably benign
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 2012-12-06