Incidental Mutation 'R6607:Hamp2'
ID 525737
Institutional Source Beutler Lab
Gene Symbol Hamp2
Ensembl Gene ENSMUSG00000056978
Gene Name hepcidin antimicrobial peptide 2
Synonyms 1810073K19Rik, HEPC2
MMRRC Submission 044730-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6607 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30621797-30623606 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 30622013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 59 (R59*)
Ref Sequence ENSEMBL: ENSMUSP00000151677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074671] [ENSMUST00000217812]
AlphaFold Q80T19
Predicted Effect probably null
Transcript: ENSMUST00000074671
AA Change: R58*
SMART Domains Protein: ENSMUSP00000074240
Gene: ENSMUSG00000056978
AA Change: R58*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Hepcidin 33 84 9.9e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000205641
AA Change: R77*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206970
Predicted Effect probably null
Transcript: ENSMUST00000217812
AA Change: R59*
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (27/28)
MGI Phenotype FUNCTION: This gene encodes a peptide hormone that functions in the regulation of systemic iron metabolism. The encoded preproprotein is synthesized in the hepatocytes where it undergoes proteolytic processing to generate disulfide-linked mature peptides that are secreted into the bloodstream. Transgenic mice overexpressing the encoded protein develop normally with hematologic parameters similar to the non-transgenic mice. This gene is located adjacent to a related hepcidin gene on chromosome 7. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,507 (GRCm39) D92G possibly damaging Het
Ace A T 11: 105,863,203 (GRCm39) H326L possibly damaging Het
Adtrp A G 13: 41,931,087 (GRCm39) F167L probably benign Het
Agbl2 A G 2: 90,631,670 (GRCm39) T343A probably damaging Het
Cacna1a A T 8: 85,306,121 (GRCm39) I1290F probably damaging Het
Cdh4 G A 2: 179,515,889 (GRCm39) V356I probably benign Het
Celsr1 A G 15: 85,847,486 (GRCm39) V1417A probably benign Het
Ctbs A G 3: 146,163,128 (GRCm39) D172G possibly damaging Het
Dnah5 A G 15: 28,445,346 (GRCm39) T4161A possibly damaging Het
Dut A G 2: 125,098,787 (GRCm39) D140G probably damaging Het
Ep400 T C 5: 110,831,180 (GRCm39) D2162G unknown Het
Esyt2 G A 12: 116,332,360 (GRCm39) D781N probably benign Het
Fam174b T C 7: 73,416,312 (GRCm39) L135P probably damaging Het
Fbxo15 A T 18: 84,977,270 (GRCm39) T106S possibly damaging Het
Foxq1 A G 13: 31,743,129 (GRCm39) D77G possibly damaging Het
Gclm G A 3: 122,049,264 (GRCm39) probably null Het
Gcn1 T A 5: 115,747,537 (GRCm39) S1677T probably damaging Het
Herc1 C T 9: 66,325,849 (GRCm39) A1441V probably benign Het
Lrp1 G A 10: 127,396,005 (GRCm39) H2422Y probably damaging Het
Rbks C T 5: 31,805,136 (GRCm39) V243M possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Slc17a4 T C 13: 24,089,397 (GRCm39) probably null Het
Slc29a1 A C 17: 45,899,853 (GRCm39) probably null Het
Tenm2 A G 11: 35,954,602 (GRCm39) probably null Het
Tmem26 T A 10: 68,614,543 (GRCm39) H319Q probably benign Het
Vmn1r203 A G 13: 22,708,891 (GRCm39) Y224C probably benign Het
Vmn1r223 T C 13: 23,433,919 (GRCm39) I171T probably damaging Het
Vmn2r101 T C 17: 19,832,296 (GRCm39) L764S probably damaging Het
Vmn2r84 T C 10: 130,226,731 (GRCm39) H369R possibly damaging Het
Other mutations in Hamp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02149:Hamp2 APN 7 30,622,122 (GRCm39) missense probably damaging 0.96
R0571:Hamp2 UTSW 7 30,623,511 (GRCm39) missense possibly damaging 0.96
R3608:Hamp2 UTSW 7 30,623,539 (GRCm39) missense probably benign 0.06
R7393:Hamp2 UTSW 7 30,622,030 (GRCm39) missense possibly damaging 0.73
R8709:Hamp2 UTSW 7 30,621,974 (GRCm39) missense probably damaging 0.98
R8944:Hamp2 UTSW 7 30,622,001 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TATTTCAAGGTCATTGCTGGAGAGG -3'
(R):5'- AAAGTCAGGAAGCTATGCCG -3'

Sequencing Primer
(F):5'- TCATTGCTGGAGAGGGCAGG -3'
(R):5'- CTTCTGCTTTCACAGATGAGACAGAC -3'
Posted On 2018-06-22