Incidental Mutation 'R5360:Hebp2'
ID 424293
Institutional Source Beutler Lab
Gene Symbol Hebp2
Ensembl Gene ENSMUSG00000019853
Gene Name heme binding protein 2
Synonyms SOUL
MMRRC Submission 042939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5360 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 18415871-18421824 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18420055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 126 (D126G)
Ref Sequence ENSEMBL: ENSMUSP00000020000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020000] [ENSMUST00000213153] [ENSMUST00000214548]
AlphaFold Q9WU63
Predicted Effect probably benign
Transcript: ENSMUST00000020000
AA Change: D126G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020000
Gene: ENSMUSG00000019853
AA Change: D126G

DomainStartEndE-ValueType
Pfam:SOUL 20 195 1.7e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213153
Predicted Effect probably benign
Transcript: ENSMUST00000214548
AA Change: D126G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found predominately in the cytoplasm, where it plays a role in the collapse of mitochondrial membrane potential (MMP) prior to necrotic cell death. The encoded protein enhances outer and inner mitochondrial membrane permeabilization, especially under conditions of oxidative stress. [provided by RefSeq, May 2016]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T A 19: 55,279,592 (GRCm39) Y443* probably null Het
Aox3 C T 1: 58,185,667 (GRCm39) T331M probably damaging Het
Arhgap32 G A 9: 32,170,967 (GRCm39) R1598H probably damaging Het
Atp1a2 A G 1: 172,106,436 (GRCm39) probably null Het
Brpf3 A T 17: 29,029,536 (GRCm39) M499L probably benign Het
Cacnb1 A T 11: 97,909,097 (GRCm39) probably null Het
Cep295 A G 9: 15,238,029 (GRCm39) S1899P probably damaging Het
Cntn2 A G 1: 132,446,595 (GRCm39) Y748H probably damaging Het
Csmd3 T A 15: 47,532,599 (GRCm39) Y2532F probably damaging Het
Cstdc1 G T 2: 148,625,298 (GRCm39) L77F probably damaging Het
Dsg1a A G 18: 20,474,011 (GRCm39) D1028G probably damaging Het
Eif1ad16 A C 12: 87,985,265 (GRCm39) L93V probably benign Het
Elp1 A T 4: 56,800,104 (GRCm39) H7Q probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gabra5 C T 7: 57,140,533 (GRCm39) G55R probably damaging Het
Gdf9 T A 11: 53,328,034 (GRCm39) F330Y probably benign Het
Gimap8 T C 6: 48,633,236 (GRCm39) S352P probably damaging Het
Gm4952 A T 19: 12,600,993 (GRCm39) H71L probably benign Het
Gnaq G A 19: 16,110,790 (GRCm39) R34H probably benign Het
Hectd4 A G 5: 121,453,464 (GRCm39) D601G possibly damaging Het
Hook2 T C 8: 85,728,033 (GRCm39) Y577H probably damaging Het
Igfals A G 17: 25,099,067 (GRCm39) T53A probably benign Het
Igsf9b A G 9: 27,222,968 (GRCm39) D123G probably damaging Het
Ilrun A T 17: 28,013,020 (GRCm39) I59N probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mdm4 A T 1: 132,919,396 (GRCm39) *490K probably null Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Neurl2 C A 2: 164,675,021 (GRCm39) A114S probably damaging Het
Nuggc A G 14: 65,876,075 (GRCm39) T563A probably damaging Het
Or8g32 T G 9: 39,305,698 (GRCm39) F204V probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pdlim1 A T 19: 40,218,993 (GRCm39) S213T probably damaging Het
Pitx1 T C 13: 55,976,291 (GRCm39) I123V probably damaging Het
Pkd1l1 T C 11: 8,829,204 (GRCm39) N1013D probably benign Het
Pla2g2c T A 4: 138,461,656 (GRCm39) Y42N possibly damaging Het
Polr2b G A 5: 77,496,993 (GRCm39) A1168T possibly damaging Het
Ppp2r2a G A 14: 67,254,020 (GRCm39) R383* probably null Het
Prl7a2 C T 13: 27,843,143 (GRCm39) R220H probably benign Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rc3h2 A G 2: 37,279,867 (GRCm39) V454A possibly damaging Het
Robo1 A G 16: 72,732,665 (GRCm39) T307A probably damaging Het
Slc22a6 T C 19: 8,596,786 (GRCm39) L188P probably damaging Het
Spag17 A G 3: 100,016,726 (GRCm39) N2167S probably benign Het
Spag5 G A 11: 78,205,588 (GRCm39) E680K probably damaging Het
Spata6 A G 4: 111,680,026 (GRCm39) Y428C possibly damaging Het
Tbc1d5 T C 17: 51,291,660 (GRCm39) D47G probably benign Het
Trp53 T C 11: 69,479,566 (GRCm39) probably null Het
Tsc22d1 TCAGCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCA 14: 76,654,707 (GRCm39) probably benign Het
Ttc39b T C 4: 83,180,084 (GRCm39) D103G probably damaging Het
Ttn A C 2: 76,750,322 (GRCm39) W3576G probably benign Het
Yeats2 T A 16: 19,972,912 (GRCm39) M22K probably damaging Het
Other mutations in Hebp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1026:Hebp2 UTSW 10 18,420,163 (GRCm39) missense possibly damaging 0.91
R1358:Hebp2 UTSW 10 18,420,163 (GRCm39) missense possibly damaging 0.91
R1360:Hebp2 UTSW 10 18,420,163 (GRCm39) missense possibly damaging 0.91
R1529:Hebp2 UTSW 10 18,421,509 (GRCm39) missense possibly damaging 0.77
R1555:Hebp2 UTSW 10 18,420,163 (GRCm39) missense possibly damaging 0.91
R1679:Hebp2 UTSW 10 18,420,163 (GRCm39) missense possibly damaging 0.91
R1757:Hebp2 UTSW 10 18,420,849 (GRCm39) missense probably damaging 1.00
R2125:Hebp2 UTSW 10 18,417,008 (GRCm39) missense probably benign 0.16
R4969:Hebp2 UTSW 10 18,420,122 (GRCm39) missense probably benign 0.14
R5758:Hebp2 UTSW 10 18,420,155 (GRCm39) missense probably damaging 1.00
R7677:Hebp2 UTSW 10 18,421,547 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- ACATCCTGAAATCTAGTAGACGG -3'
(R):5'- GAGTAATGTGTCATTCTACCACTACC -3'

Sequencing Primer
(F):5'- ATCTAGTAGACGGTTCTTATGGAAG -3'
(R):5'- CATCAGCCATAATATGCTAAAATTGC -3'
Posted On 2016-08-04