Incidental Mutation 'R6689:Hp'
ID 527889
Institutional Source Beutler Lab
Gene Symbol Hp
Ensembl Gene ENSMUSG00000031722
Gene Name haptoglobin
Synonyms preHP2, HP-1, zonulin
MMRRC Submission 044807-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R6689 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 110301760-110305804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 110302352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 199 (V199I)
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: V199I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000074436
Gene: ENSMUSG00000031722
AA Change: V199I

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T A 9: 49,331,776 (GRCm39) I173F probably damaging Het
Aurka A G 2: 172,212,313 (GRCm39) probably null Het
B4galnt4 C T 7: 140,647,897 (GRCm39) T471I probably benign Het
Ccn1 T A 3: 145,353,543 (GRCm39) M340L probably benign Het
Commd6 C A 14: 101,877,895 (GRCm39) probably benign Het
Elobl T C 11: 88,855,919 (GRCm39) N48S possibly damaging Het
Grem1 T C 2: 113,580,276 (GRCm39) E75G probably benign Het
Kcna2 C A 3: 107,012,343 (GRCm39) S308Y probably damaging Het
Lgr5 T A 10: 115,302,513 (GRCm39) I293F probably damaging Het
Lmln A G 16: 32,925,152 (GRCm39) R462G probably benign Het
Lsm3 GATATATA GATATATATA 6: 91,496,617 (GRCm39) probably null Het
Mroh4 A G 15: 74,483,852 (GRCm39) V495A probably damaging Het
Or10c1 C G 17: 37,522,048 (GRCm39) G232A probably damaging Het
Or8h10 A G 2: 86,808,498 (GRCm39) I214T probably benign Het
Spmip4 A G 6: 50,566,089 (GRCm39) probably null Het
Stim2 G A 5: 54,273,318 (GRCm39) R524H 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
R6036:Hp UTSW 8 110,303,406 (GRCm39) splice site probably null
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'- AAGATAGGCTGGACCCCAAC -3'
(R):5'- CGTTGATCAGTGACCAGTGG -3'

Sequencing Primer
(F):5'- CGGGCACTGTACTATTCTCATAGTG -3'
(R):5'- ATCAGTGACCAGTGGCTGCTG -3'
Posted On 2018-07-23