Incidental Mutation 'R6036:Hp'
ID 486581
Institutional Source Beutler Lab
Gene Symbol Hp
Ensembl Gene ENSMUSG00000031722
Gene Name haptoglobin
Synonyms preHP2, HP-1, zonulin
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R6036 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 110301760-110305804 bp(-) (GRCm39)
Type of Mutation splice site (3251 bp from exon)
DNA Base Change (assembly) A to G at 110303406 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 damaging
Transcript: ENSMUST00000074898
AA Change: Y66H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074436
Gene: ENSMUSG00000031722
AA Change: Y66H

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,723,684 (GRCm39) probably benign Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Alpk3 G A 7: 80,743,005 (GRCm39) V941M probably benign Het
Ano4 A G 10: 88,818,127 (GRCm39) W588R possibly damaging Het
Atp6v1a A G 16: 43,919,194 (GRCm39) Y464H probably benign Het
Barx2 A T 9: 31,824,304 (GRCm39) D28E probably damaging Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Col10a1 A G 10: 34,271,278 (GRCm39) T417A probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Eif4enif1 T C 11: 3,189,420 (GRCm39) S227P probably damaging Het
Erv3 G A 2: 131,697,925 (GRCm39) H145Y possibly damaging Het
Exoc5 T C 14: 49,251,779 (GRCm39) T591A possibly damaging Het
F5 A T 1: 164,012,565 (GRCm39) E493V probably damaging Het
Gm8444 G T 15: 81,727,794 (GRCm39) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm39) I221L probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
H2bc13 A T 13: 21,900,148 (GRCm39) S56T probably damaging Het
Hc T C 2: 34,929,696 (GRCm39) T249A probably benign Het
Herc2 A G 7: 55,717,801 (GRCm39) T48A probably benign Het
Ifna15 T G 4: 88,476,310 (GRCm39) D58A possibly damaging Het
Kcnj1 A T 9: 32,308,421 (GRCm39) M262L probably benign Het
Krt87 A C 15: 101,385,412 (GRCm39) I320S possibly damaging Het
Megf10 A G 18: 57,375,799 (GRCm39) N242D probably damaging Het
Nup155 A G 15: 8,157,895 (GRCm39) T451A probably benign Het
Or2ag2b A T 7: 106,417,667 (GRCm39) I126F probably damaging Het
Or4g7 T C 2: 111,309,333 (GRCm39) L68P probably damaging Het
Or4k35 C T 2: 111,099,957 (GRCm39) G252R probably damaging Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Or8d23 A G 9: 38,842,216 (GRCm39) I250V probably damaging Het
Pdzd8 G A 19: 59,293,641 (GRCm39) P403S probably damaging Het
Piezo2 G A 18: 63,248,019 (GRCm39) Q494* probably null Het
Pik3c2b T C 1: 133,018,451 (GRCm39) F966S possibly damaging Het
Plag1 T C 4: 3,904,618 (GRCm39) E191G possibly damaging Het
Pou4f2 A T 8: 79,162,103 (GRCm39) S167T probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Scd4 G A 19: 44,333,231 (GRCm39) D319N probably damaging Het
Senp2 A T 16: 21,847,308 (GRCm39) R279* probably null Het
Sh3rf3 G A 10: 58,649,806 (GRCm39) G137D probably benign Het
Simc1 C T 13: 54,672,434 (GRCm39) P261S probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc26a1 T A 5: 108,821,436 (GRCm39) D151V probably damaging Het
Snx29 A G 16: 11,556,301 (GRCm39) probably null Het
Stard9 C T 2: 120,530,556 (GRCm39) A2271V probably benign Het
Stat6 A G 10: 127,491,313 (GRCm39) N485D possibly damaging Het
Tpcn2 T C 7: 144,822,606 (GRCm39) T280A possibly damaging Het
Ttc23 A G 7: 67,361,114 (GRCm39) I378V possibly damaging Het
Ttc29 A G 8: 79,052,205 (GRCm39) D362G probably benign Het
Ttll7 A G 3: 146,645,917 (GRCm39) I592V probably benign Het
Ugt3a1 A T 15: 9,306,172 (GRCm39) H107L probably benign Het
Vmn1r70 A G 7: 10,367,830 (GRCm39) Q87R probably damaging Het
Vmn2r-ps129 T C 17: 23,214,146 (GRCm39) noncoding transcript Het
Wdfy4 G T 14: 32,868,947 (GRCm39) S360R probably damaging Het
Zfp780b A G 7: 27,662,993 (GRCm39) Y521H 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
R4741:Hp UTSW 8 110,302,104 (GRCm39) nonsense 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'- AAATGGGCATGGCATTGAGC -3'
(R):5'- AAACTTAACTTGTCTCAGCTTCCTG -3'

Sequencing Primer
(F):5'- GCATGGCATTGAGCTGTCC -3'
(R):5'- CAGCTTCCTGTTTTGTCTTGTTAAG -3'
Posted On 2017-08-16