Incidental Mutation 'IGL02149:Hamp2'
ID 281921
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hamp2
Ensembl Gene ENSMUSG00000056978
Gene Name hepcidin antimicrobial peptide 2
Synonyms 1810073K19Rik, HEPC2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02149
Quality Score
Status
Chromosome 7
Chromosomal Location 30621797-30623606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30622122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 50 (A50E)
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: A49E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074240
Gene: ENSMUSG00000056978
AA Change: A49E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Hepcidin 33 84 9.9e-22 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000205641
AA Change: A68E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206970
Predicted Effect probably damaging
Transcript: ENSMUST00000217812
AA Change: A50E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A T 9: 70,610,713 (GRCm39) H67L probably damaging Het
Adgrb1 C T 15: 74,412,326 (GRCm39) T435I probably damaging Het
Adgrd1 T A 5: 129,256,325 (GRCm39) F652Y probably damaging Het
Adgrl4 T A 3: 151,205,991 (GRCm39) F250Y possibly damaging Het
Aebp2 C T 6: 140,588,010 (GRCm39) A360V probably benign Het
AW551984 A C 9: 39,504,220 (GRCm39) M582R probably benign Het
B430306N03Rik T C 17: 48,624,020 (GRCm39) V107A probably benign Het
Cage1 T C 13: 38,206,505 (GRCm39) N447D probably damaging Het
Col17a1 T C 19: 47,657,071 (GRCm39) D524G probably benign Het
Dpp6 A T 5: 27,743,022 (GRCm39) I218F probably benign Het
Ep300 T G 15: 81,512,621 (GRCm39) probably benign Het
Ephb2 C T 4: 136,421,225 (GRCm39) C375Y probably damaging Het
Fastk A G 5: 24,649,051 (GRCm39) V112A probably damaging Het
Fbxo11 T A 17: 88,301,187 (GRCm39) R775S possibly damaging Het
Fbxw20 A G 9: 109,062,886 (GRCm39) probably null Het
Il22b C A 10: 118,130,902 (GRCm39) probably benign Het
Ints1 G A 5: 139,737,715 (GRCm39) R2139C probably damaging Het
Itgae T A 11: 72,994,720 (GRCm39) V24E probably benign Het
Jakmip3 G A 7: 138,609,075 (GRCm39) V60M possibly damaging Het
Kcnk10 A C 12: 98,485,099 (GRCm39) probably benign Het
Klra1 A T 6: 130,352,293 (GRCm39) C150S probably damaging Het
Lhx9 A T 1: 138,759,172 (GRCm39) V376E probably damaging Het
Mdm1 T A 10: 117,983,970 (GRCm39) F199I probably damaging Het
Nipal3 G T 4: 135,194,163 (GRCm39) T290K possibly damaging Het
Obsl1 C T 1: 75,480,464 (GRCm39) E387K probably damaging Het
Or8b43 A G 9: 38,360,693 (GRCm39) H175R probably damaging Het
Oxct1 A G 15: 4,120,711 (GRCm39) Y265C probably damaging Het
Pccb G A 9: 100,867,243 (GRCm39) H411Y probably damaging Het
Pkp1 A G 1: 135,814,485 (GRCm39) S279P probably benign Het
Prdm14 C A 1: 13,195,663 (GRCm39) G133C probably benign Het
Prkaa2 A T 4: 104,897,285 (GRCm39) N309K probably benign Het
Shc2 T C 10: 79,458,102 (GRCm39) D527G probably damaging Het
Shkbp1 C T 7: 27,042,064 (GRCm39) probably benign Het
Skil T C 3: 31,151,856 (GRCm39) V126A possibly damaging Het
Slc25a36 A T 9: 96,975,122 (GRCm39) probably benign Het
Slc2a13 T C 15: 91,227,924 (GRCm39) T423A probably benign Het
Spty2d1 A G 7: 46,657,892 (GRCm39) probably benign Het
Stag1 A G 9: 100,769,442 (GRCm39) D519G probably benign Het
Tmprss2 G T 16: 97,400,479 (GRCm39) probably benign Het
Trim66 G T 7: 109,060,109 (GRCm39) T759K possibly damaging Het
Trpc4ap C A 2: 155,481,467 (GRCm39) A530S probably damaging Het
Ttn A T 2: 76,642,099 (GRCm39) D11625E probably damaging Het
Ube4b T C 4: 149,483,141 (GRCm39) I42M possibly damaging Het
Ubxn10 A G 4: 138,448,584 (GRCm39) S31P probably benign Het
Ubxn7 A G 16: 32,194,088 (GRCm39) Y220C probably damaging Het
Vmn1r234 A G 17: 21,449,269 (GRCm39) Y61C probably benign Het
Other mutations in Hamp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16