Incidental Mutation 'R5758:Hebp2'
ID 445148
Institutional Source Beutler Lab
Gene Symbol Hebp2
Ensembl Gene ENSMUSG00000019853
Gene Name heme binding protein 2
Synonyms SOUL
MMRRC Submission 043203-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5758 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 18415871-18421824 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 18420155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 93 (V93L)
Ref Sequence ENSEMBL: ENSMUSP00000150459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020000] [ENSMUST00000213153] [ENSMUST00000214548]
AlphaFold Q9WU63
Predicted Effect probably damaging
Transcript: ENSMUST00000020000
AA Change: V93L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020000
Gene: ENSMUSG00000019853
AA Change: V93L

DomainStartEndE-ValueType
Pfam:SOUL 20 195 1.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213153
AA Change: V93L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214548
AA Change: V93L

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.5%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,264,536 (GRCm39) N2973D probably damaging Het
Acan A T 7: 78,750,962 (GRCm39) E1911V possibly damaging Het
Adamts20 T C 15: 94,292,531 (GRCm39) N193S probably benign Het
Arhgap28 T C 17: 68,180,154 (GRCm39) D81G probably benign Het
Calhm3 A G 19: 47,140,190 (GRCm39) V301A probably damaging Het
Celsr1 C T 15: 85,825,465 (GRCm39) G1556D probably benign Het
Cfap221 A G 1: 119,862,288 (GRCm39) L598P probably benign Het
Col6a6 T C 9: 105,638,717 (GRCm39) probably null Het
Dmxl2 T A 9: 54,380,248 (GRCm39) I142F probably benign Het
Dpy19l4 C T 4: 11,276,886 (GRCm39) V338M probably damaging Het
Dpys A C 15: 39,690,395 (GRCm39) D319E possibly damaging Het
Dsc3 A G 18: 20,122,591 (GRCm39) V111A probably damaging Het
Galnt5 T C 2: 57,888,442 (GRCm39) V14A probably benign Het
Igkv8-21 A T 6: 70,292,009 (GRCm39) S78T possibly damaging Het
Jak2 T A 19: 29,287,043 (GRCm39) D1036E probably damaging Het
Kazn A G 4: 141,868,982 (GRCm39) probably null Het
Kif9 T C 9: 110,318,947 (GRCm39) V143A probably damaging Het
Lhcgr T C 17: 89,049,976 (GRCm39) I517V probably damaging Het
Llgl1 T C 11: 60,599,393 (GRCm39) F458S probably damaging Het
Mrgprb3 C A 7: 48,293,067 (GRCm39) M161I probably benign Het
Muc5b A T 7: 141,412,720 (GRCm39) I1889F unknown Het
Mysm1 A G 4: 94,840,598 (GRCm39) V606A probably damaging Het
Nipal3 T C 4: 135,179,874 (GRCm39) D348G probably benign Het
Olfml2b G A 1: 170,496,833 (GRCm39) probably null Het
Or5p5 T C 7: 107,414,022 (GRCm39) V77A probably damaging Het
Or5p72 T A 7: 108,022,369 (GRCm39) V197D probably benign Het
Orc5 T C 5: 22,734,256 (GRCm39) D176G possibly damaging Het
Rapgef6 A G 11: 54,559,470 (GRCm39) N1041S probably damaging Het
Ryr3 G A 2: 112,672,320 (GRCm39) R1384C probably damaging Het
Sar1a A G 10: 61,520,851 (GRCm39) Y22C probably benign Het
Shcbp1 T C 8: 4,799,355 (GRCm39) probably null Het
Smim17 C T 7: 6,427,788 (GRCm39) H25Y possibly damaging Het
Tcstv7a T C 13: 120,289,791 (GRCm39) D135G probably damaging Het
Trim10 C T 17: 37,188,044 (GRCm39) T420I possibly damaging Het
Trip13 G T 13: 74,085,614 (GRCm39) S29R probably benign Het
Tubgcp5 C T 7: 55,468,643 (GRCm39) R713C probably damaging Het
Uckl1 C A 2: 181,211,746 (GRCm39) G420C probably damaging Het
Vangl1 A T 3: 102,091,408 (GRCm39) V226D probably damaging Het
Zdhhc17 A G 10: 110,780,256 (GRCm39) *633Q probably null Het
Zfhx4 A G 3: 5,467,680 (GRCm39) K2613E probably damaging Het
Zfp236 G A 18: 82,689,834 (GRCm39) T215M probably damaging Het
Zfp563 A G 17: 33,323,894 (GRCm39) H163R probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L 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
R5360:Hebp2 UTSW 10 18,420,055 (GRCm39) missense probably benign 0.00
R7677:Hebp2 UTSW 10 18,421,547 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GGACTGGTGAATGCACACAG -3'
(R):5'- GTAATGTGTCATTCTACCACTACCC -3'

Sequencing Primer
(F):5'- CTGGTGAATGCACACAGGTAAAACC -3'
(R):5'- GATGAGACATATCAAGGGTAC -3'
Posted On 2016-11-21