Incidental Mutation 'IGL01307:Hp'
ID 73478
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 # IGL01307
Quality Score
Status
Chromosome 8
Chromosomal Location 110301760-110305804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 110302415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 178 (V178I)
Ref Sequence ENSEMBL: ENSMUSP00000074436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034159] [ENSMUST00000074898] [ENSMUST00000178445]
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
AA Change: V178I

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000074436
Gene: ENSMUSG00000031722
AA Change: V178I

DomainStartEndE-ValueType
CCP 33 86 2.9e0 SMART
Tryp_SPc 102 340 4.38e-48 SMART
Predicted Effect probably benign
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,159 (GRCm39) M2302K possibly damaging Het
Actl9 A G 17: 33,653,152 (GRCm39) E404G probably damaging Het
Adamts12 A T 15: 11,237,632 (GRCm39) I314L possibly damaging Het
Card6 C A 15: 5,129,484 (GRCm39) M637I possibly damaging Het
Ccdc122 G A 14: 77,329,516 (GRCm39) probably benign Het
Cdh10 A G 15: 18,899,886 (GRCm39) D71G probably benign Het
Cdk15 A T 1: 59,326,955 (GRCm39) Y214F probably benign Het
Cdon A G 9: 35,368,860 (GRCm39) K365E probably benign Het
Cyp2c37 T C 19: 39,981,023 (GRCm39) V47A probably benign Het
Ddc T A 11: 11,789,462 (GRCm39) D271V probably damaging Het
Dnah6 G A 6: 73,042,708 (GRCm39) A3290V probably damaging Het
Dtl A T 1: 191,302,811 (GRCm39) S20T possibly damaging Het
Egf A C 3: 129,533,642 (GRCm39) I66S probably damaging Het
Eif4a3 T C 11: 119,184,387 (GRCm39) K268E probably damaging Het
Fbxl16 A T 17: 26,038,338 (GRCm39) probably benign Het
Fez2 C T 17: 78,689,029 (GRCm39) probably benign Het
Fras1 C A 5: 96,929,551 (GRCm39) T3985K probably benign Het
Gbp4 T C 5: 105,284,887 (GRCm39) M1V probably null Het
Gpnmb A G 6: 49,022,299 (GRCm39) D143G probably benign Het
Grm5 A T 7: 87,724,220 (GRCm39) T837S probably damaging Het
Hmcn1 T C 1: 150,620,752 (GRCm39) T1153A possibly damaging Het
Macf1 A T 4: 123,276,922 (GRCm39) V4061E probably damaging Het
Msto1 C A 3: 88,820,993 (GRCm39) R34L probably benign Het
Mtf2 C T 5: 108,254,756 (GRCm39) T519M probably damaging Het
Myo3a T A 2: 22,448,301 (GRCm39) N25K probably damaging Het
Ncapd2 A G 6: 125,145,582 (GRCm39) V1355A possibly damaging Het
Nhlrc2 C A 19: 56,540,231 (GRCm39) Y73* probably null Het
Nwd2 A T 5: 63,965,626 (GRCm39) S1737C possibly damaging Het
Or1p1 T A 11: 74,180,254 (GRCm39) C261S possibly damaging Het
Osmr A G 15: 6,873,908 (GRCm39) V163A probably damaging Het
Palm3 T C 8: 84,756,074 (GRCm39) S529P possibly damaging Het
Pcnt A G 10: 76,247,422 (GRCm39) Y1037H probably damaging Het
Pkhd1l1 T C 15: 44,393,425 (GRCm39) I1920T possibly damaging Het
Plekha7 A G 7: 115,744,479 (GRCm39) probably benign Het
Psd C T 19: 46,303,097 (GRCm39) G762R probably damaging Het
Psmb8 A G 17: 34,418,210 (GRCm39) T51A probably benign Het
Rbm12 A C 2: 155,937,302 (GRCm39) probably benign Het
Rictor T A 15: 6,804,085 (GRCm39) probably null Het
Slc24a5 G A 2: 124,922,800 (GRCm39) G158S probably damaging Het
Spata31f1a G T 4: 42,850,963 (GRCm39) L398I probably benign Het
Stag1 A G 9: 100,833,841 (GRCm39) probably benign Het
Tln2 A G 9: 67,302,749 (GRCm39) M74T probably benign Het
Trim24 C A 6: 37,942,570 (GRCm39) D957E possibly damaging Het
Trpa1 A T 1: 14,966,771 (GRCm39) M531K probably benign Het
Ttn A G 2: 76,736,637 (GRCm39) Y4376H possibly damaging Het
Twsg1 T C 17: 66,255,646 (GRCm39) probably benign Het
Usp34 T A 11: 23,367,676 (GRCm39) V1671E probably damaging Het
Vwa5b2 A G 16: 20,423,020 (GRCm39) D1006G probably benign 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
IGL01013:Hp APN 8 110,305,653 (GRCm39) utr 5 prime probably benign
IGL01096:Hp APN 8 110,302,033 (GRCm39) missense probably benign
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 2013-10-07