Incidental Mutation 'R4741:Hp'
ID 358086
Institutional Source Beutler Lab
Gene Symbol Hp
Ensembl Gene ENSMUSG00000031722
Gene Name haptoglobin
Synonyms preHP2, HP-1, zonulin
MMRRC Submission 042026-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R4741 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 110301760-110305804 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 110302104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 281 (C281*)
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 null
Transcript: ENSMUST00000074898
AA Change: C281*
SMART Domains Protein: ENSMUSP00000074436
Gene: ENSMUSG00000031722
AA Change: C281*

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl2 T C 2: 33,136,200 (GRCm39) Y462H probably benign Het
Arhgef12 A G 9: 42,883,449 (GRCm39) I1360T possibly damaging Het
Armc10 T G 5: 21,856,834 (GRCm39) L111R probably damaging Het
Atm T C 9: 53,364,907 (GRCm39) K2628E probably benign Het
Best3 A T 10: 116,859,901 (GRCm39) N387I probably benign Het
Bltp1 A G 3: 36,996,524 (GRCm39) T1079A probably damaging Het
Brpf3 T C 17: 29,036,758 (GRCm39) F721S possibly damaging Het
Cacna1c A G 6: 118,590,271 (GRCm39) S1411P probably damaging Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Clip2 T A 5: 134,545,123 (GRCm39) T344S probably benign Het
Csmd1 A C 8: 15,960,447 (GRCm39) W3323G probably damaging Het
Doc2a A T 7: 126,450,617 (GRCm39) T298S possibly damaging Het
Dpp9 T C 17: 56,512,286 (GRCm39) N234S probably benign Het
Dtx2 C T 5: 136,055,371 (GRCm39) R353C probably benign Het
Epm2aip1 A G 9: 111,101,681 (GRCm39) H218R probably benign Het
F2rl1 G A 13: 95,650,651 (GRCm39) T77M probably damaging Het
Fsd2 A G 7: 81,201,643 (GRCm39) probably null Het
Grin2a T C 16: 9,481,376 (GRCm39) Y475C probably damaging Het
H2-Ob T A 17: 34,461,545 (GRCm39) S95T possibly damaging Het
Hddc3 A G 7: 79,995,464 (GRCm39) T160A probably benign Het
Ighg1 T C 12: 113,290,178 (GRCm39) probably benign Het
Ints7 A G 1: 191,351,747 (GRCm39) I819V probably benign Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Jmjd1c A G 10: 67,060,718 (GRCm39) I737V possibly damaging Het
Krt74 C T 15: 101,669,876 (GRCm39) noncoding transcript Het
Lnpep T C 17: 17,791,920 (GRCm39) Y407C probably damaging Het
Lrp4 T G 2: 91,341,912 (GRCm39) C1842G probably damaging Het
Mug2 T A 6: 122,056,572 (GRCm39) N1172K probably benign Het
Npy6r A T 18: 44,408,791 (GRCm39) T71S probably damaging Het
Nsd3 A T 8: 26,163,382 (GRCm39) I591F probably damaging Het
Oog2 A C 4: 143,921,715 (GRCm39) E208D possibly damaging Het
Otogl A G 10: 107,615,121 (GRCm39) I1928T probably benign Het
Papss1 T C 3: 131,324,860 (GRCm39) L418P probably damaging Het
Pcdhb13 T A 18: 37,576,571 (GRCm39) D316E probably benign Het
Pcdhgb2 T A 18: 37,824,737 (GRCm39) probably null Het
Ptcd3 T A 6: 71,879,933 (GRCm39) L108F probably damaging Het
Ralgps1 T C 2: 33,226,599 (GRCm39) S31G probably benign Het
Rnf225 A T 7: 12,661,857 (GRCm39) H12L probably benign Het
Ryr3 T A 2: 112,633,613 (GRCm39) M2047L probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpinb3b G T 1: 107,082,200 (GRCm39) Q355K probably benign Het
Slc8a2 T A 7: 15,868,233 (GRCm39) F155Y probably damaging Het
Taf1c A G 8: 120,330,134 (GRCm39) probably benign Het
Tln2 A G 9: 67,293,837 (GRCm39) probably null Het
Tmpo A G 10: 90,998,506 (GRCm39) V427A probably benign Het
Vmn1r17 A T 6: 57,338,337 (GRCm39) Y9* probably null Het
Vmn2r63 C T 7: 42,577,544 (GRCm39) M331I probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfand5 C T 19: 21,253,845 (GRCm39) T16I probably damaging Het
Zfp352 A T 4: 90,113,177 (GRCm39) K439M possibly damaging Het
Zfp786 G A 6: 47,797,625 (GRCm39) H438Y probably damaging Het
Zfp808 T A 13: 62,319,763 (GRCm39) C331S 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
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
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
Predicted Primers PCR Primer
(F):5'- TGAACCCAGTCCTTCAGGTC -3'
(R):5'- GAGTCATGCCTATCTGCCTG -3'

Sequencing Primer
(F):5'- AGTCCTTCAGGTCGGTCG -3'
(R):5'- TACATAGCACCAGGCCGTGTG -3'
Posted On 2015-11-11