Incidental Mutation 'R8709:Hamp2'
ID 669436
Institutional Source Beutler Lab
Gene Symbol Hamp2
Ensembl Gene ENSMUSG00000056978
Gene Name hepcidin antimicrobial peptide 2
Synonyms 1810073K19Rik, HEPC2
MMRRC Submission 068563-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8709 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30621797-30623606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30621974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 72 (C72R)
Ref Sequence ENSEMBL: ENSMUSP00000151677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074671] [ENSMUST00000217812]
AlphaFold Q80T19
Predicted Effect probably damaging
Transcript: ENSMUST00000074671
AA Change: C71R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074240
Gene: ENSMUSG00000056978
AA Change: C71R

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Hepcidin 33 84 9.9e-22 PFAM
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000217812
AA Change: C72R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (55/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,316 (GRCm39) S79P unknown Het
Aadacl4fm2 C G 4: 144,281,863 (GRCm39) A310P probably damaging Het
Adamts20 T A 15: 94,238,947 (GRCm39) D757V probably damaging Het
Adamts9 C T 6: 92,784,144 (GRCm39) G1570D probably damaging Het
Adamtsl3 A G 7: 82,077,642 (GRCm39) Y109C possibly damaging Het
Agl G A 3: 116,566,121 (GRCm39) R335C Het
Ankfy1 C A 11: 72,646,532 (GRCm39) T805K possibly damaging Het
Cast A T 13: 74,892,780 (GRCm39) V96E probably damaging Het
Cdh17 G T 4: 11,795,685 (GRCm39) E422* probably null Het
Cox4i1 T A 8: 121,396,110 (GRCm39) L21H possibly damaging Het
Cwc22 T C 2: 77,726,694 (GRCm39) E795G probably benign Het
Cwf19l2 C A 9: 3,430,723 (GRCm39) Q352K probably benign Het
Cyp2d9 T C 15: 82,339,276 (GRCm39) V226A probably benign Het
Dnah12 A G 14: 26,414,757 (GRCm39) I53V probably benign Het
Dnah7a T C 1: 53,674,476 (GRCm39) I434V probably benign Het
Dock8 C T 19: 25,055,448 (GRCm39) Q137* probably null Het
Eif4b T G 15: 102,002,116 (GRCm39) V515G unknown Het
Far2 T A 6: 148,067,133 (GRCm39) N339K probably benign Het
Gpr22 T C 12: 31,759,829 (GRCm39) T98A probably damaging Het
Hmgn1 G A 16: 95,928,540 (GRCm39) P16S possibly damaging Het
Hspd1 A G 1: 55,120,922 (GRCm39) S256P probably benign Het
Iqcn T C 8: 71,162,372 (GRCm39) C522R possibly damaging Het
Iqgap2 T C 13: 95,796,713 (GRCm39) H1147R probably damaging Het
Itgb1 T A 8: 129,439,887 (GRCm39) probably benign Het
Klhl29 A T 12: 5,140,681 (GRCm39) W654R probably damaging Het
Krtap22-2 T A 16: 88,807,514 (GRCm39) Y28F unknown Het
Lcp2 T A 11: 34,004,354 (GRCm39) probably benign Het
Muc5ac T G 7: 141,370,663 (GRCm39) L3225R possibly damaging Het
Myom3 A G 4: 135,523,607 (GRCm39) E908G possibly damaging Het
Nup54 A G 5: 92,570,267 (GRCm39) probably benign Het
Or1p1 T A 11: 74,180,054 (GRCm39) I194N possibly damaging Het
Or4a74 C T 2: 89,440,366 (GRCm39) V27I probably benign Het
Or51af1 T C 7: 103,141,519 (GRCm39) T189A probably benign Het
Or5ae1 T A 7: 84,565,671 (GRCm39) I228N probably damaging Het
Pak4 A C 7: 28,261,969 (GRCm39) D453E probably benign Het
Pkd1l1 T C 11: 8,805,567 (GRCm39) T2120A Het
Pkhd1l1 T A 15: 44,381,570 (GRCm39) S1099T probably benign Het
Pld2 C T 11: 70,444,275 (GRCm39) R524W probably damaging Het
Polr1a T A 6: 71,951,832 (GRCm39) D1466E probably benign Het
Pxdn C T 12: 30,056,601 (GRCm39) L1271F probably damaging Het
Rp1l1 A C 14: 64,269,295 (GRCm39) D1627A probably damaging Het
Sephs1 T C 2: 4,889,402 (GRCm39) V60A probably benign Het
Sipa1 C T 19: 5,710,980 (GRCm39) R10Q probably damaging Het
Sp4 T C 12: 118,263,189 (GRCm39) T286A possibly damaging Het
Spag5 T A 11: 78,192,738 (GRCm39) S23R probably benign Het
Spag9 T A 11: 93,958,916 (GRCm39) N313K probably benign Het
Stag1 T A 9: 100,772,975 (GRCm39) probably benign Het
Stkld1 T A 2: 26,835,817 (GRCm39) H217Q probably benign Het
Stxbp2 T A 8: 3,683,914 (GRCm39) F104I possibly damaging Het
Tcf12 A G 9: 71,765,787 (GRCm39) V575A possibly damaging Het
Tcf12 A T 9: 71,830,069 (GRCm39) S131T probably benign Het
Tg T A 15: 66,553,786 (GRCm39) S400R probably benign Het
Tomm40 T C 7: 19,444,703 (GRCm39) T200A possibly damaging Het
Trio T C 15: 27,919,323 (GRCm39) E71G unknown Het
Zfp292 A T 4: 34,805,982 (GRCm39) V2359E probably 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
R6607:Hamp2 UTSW 7 30,622,013 (GRCm39) nonsense probably null
R7393:Hamp2 UTSW 7 30,622,030 (GRCm39) missense possibly damaging 0.73
R8944:Hamp2 UTSW 7 30,622,001 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GTACATAGACCTGTAAACCCAGCTC -3'
(R):5'- CTTTGCACGGGGAAGAAAGC -3'

Sequencing Primer
(F):5'- TGTAAACCCAGCTCAGTGCCTG -3'
(R):5'- AGAAAGCAGGGCAGACATTG -3'
Posted On 2021-04-30