Incidental Mutation 'R1555:Hebp2'
ID 170229
Institutional Source Beutler Lab
Gene Symbol Hebp2
Ensembl Gene ENSMUSG00000019853
Gene Name heme binding protein 2
Synonyms SOUL
MMRRC Submission 039594-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R1555 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 18415871-18421824 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 18420163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 90 (T90K)
Ref Sequence ENSEMBL: ENSMUSP00000150459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020000] [ENSMUST00000213153] [ENSMUST00000214548]
AlphaFold Q9WU63
Predicted Effect possibly damaging
Transcript: ENSMUST00000020000
AA Change: T90K

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020000
Gene: ENSMUSG00000019853
AA Change: T90K

DomainStartEndE-ValueType
Pfam:SOUL 20 195 1.7e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213153
AA Change: T90K

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000214548
AA Change: T90K

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.4320 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency 96% (43/45)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,865,727 (GRCm39) probably null Het
Adamts1 T A 16: 85,594,776 (GRCm39) T358S probably benign Het
Ate1 A T 7: 130,110,821 (GRCm39) F169I probably benign Het
Cdkl4 T A 17: 80,851,043 (GRCm39) probably benign Het
Clcnkb T C 4: 141,139,050 (GRCm39) probably null Het
Col6a4 C T 9: 105,878,085 (GRCm39) R1964Q possibly damaging Het
Dcakd C T 11: 102,891,039 (GRCm39) V17I probably damaging Het
Dcdc5 T G 2: 106,214,480 (GRCm39) noncoding transcript Het
Erc2 T A 14: 27,733,622 (GRCm39) D557E probably damaging Het
Grid2 A T 6: 64,406,668 (GRCm39) D676V possibly damaging Het
Igkv10-96 C T 6: 68,609,365 (GRCm39) probably benign Het
Mier3 T A 13: 111,844,893 (GRCm39) N248K probably damaging Het
Myo5b A T 18: 74,702,853 (GRCm39) I15F probably damaging Het
Neurl3 A G 1: 36,305,613 (GRCm39) V198A probably benign Het
Notch2 C A 3: 98,038,656 (GRCm39) N1266K possibly damaging Het
Nup107 A G 10: 117,587,395 (GRCm39) probably benign Het
Or52e8b T C 7: 104,673,729 (GRCm39) I153V probably benign Het
Or6d14 A T 6: 116,533,787 (GRCm39) I134F probably damaging Het
Phf3 G T 1: 30,844,958 (GRCm39) H1334N possibly damaging Het
Phyhd1 T A 2: 30,164,718 (GRCm39) I100N probably damaging Het
Rad21l T A 2: 151,500,348 (GRCm39) T224S probably benign Het
Rxra C T 2: 27,638,690 (GRCm39) A231V probably benign Het
Sac3d1 T C 19: 6,168,435 (GRCm39) D61G probably damaging Het
Sbf1 A G 15: 89,189,279 (GRCm39) Y481H probably damaging Het
Spg11 T C 2: 121,927,858 (GRCm39) E642G probably damaging Het
Spta1 A G 1: 174,006,315 (GRCm39) Y159C probably damaging Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Tedc1 G T 12: 113,120,117 (GRCm39) probably benign Het
Tmem200a A T 10: 25,869,782 (GRCm39) D162E probably damaging Het
Tmprss11e T A 5: 86,863,447 (GRCm39) Q206L probably damaging Het
Tpra1 A G 6: 88,887,185 (GRCm39) N175S probably damaging Het
Ttll10 T C 4: 156,119,596 (GRCm39) E601G probably benign Het
Ttll6 G T 11: 96,036,408 (GRCm39) D346Y probably damaging Het
U2surp A G 9: 95,348,630 (GRCm39) V874A probably damaging Het
Vwa5b1 T C 4: 138,332,788 (GRCm39) K258R probably benign Het
Xkr6 A G 14: 64,056,374 (GRCm39) Y95C unknown Het
Zfp180 T C 7: 23,800,999 (GRCm39) probably benign Het
Zfp90 A G 8: 107,150,727 (GRCm39) T147A probably benign 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
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
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'- CGCACGAACACCGTCATTTCAG -3'
(R):5'- CAAGTCTCTTCGCCTTAGGACCAC -3'

Sequencing Primer
(F):5'- GAACACCGTCATTTCAGCTCTG -3'
(R):5'- GAGTAATGTGTCATTCTACCACTACC -3'
Posted On 2014-04-13