Incidental Mutation 'R3686:Bnip2'
ID 269530
Institutional Source Beutler Lab
Gene Symbol Bnip2
Ensembl Gene ENSMUSG00000011958
Gene Name BCL2/adenovirus E1B interacting protein 2
Synonyms 5730523P12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3686 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 69896748-69915599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69906432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 118 (Y118N)
Ref Sequence ENSEMBL: ENSMUSP00000113466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034754] [ENSMUST00000085393] [ENSMUST00000117450] [ENSMUST00000154772] [ENSMUST00000165389]
AlphaFold O54940
Predicted Effect probably damaging
Transcript: ENSMUST00000034754
AA Change: Y118N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034754
Gene: ENSMUSG00000011958
AA Change: Y118N

DomainStartEndE-ValueType
SEC14 150 301 3.23e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000085393
AA Change: Y118N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000082513
Gene: ENSMUSG00000011958
AA Change: Y118N

DomainStartEndE-ValueType
SEC14 150 301 5.62e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117450
AA Change: Y118N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113466
Gene: ENSMUSG00000011958
AA Change: Y118N

DomainStartEndE-ValueType
SEC14 150 301 1.19e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133307
Predicted Effect probably benign
Transcript: ENSMUST00000137472
SMART Domains Protein: ENSMUSP00000115106
Gene: ENSMUSG00000011958

DomainStartEndE-ValueType
Pfam:CRAL_TRIO_2 1 67 4.1e-17 PFAM
Pfam:CRAL_TRIO 2 58 4.5e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143049
Predicted Effect probably benign
Transcript: ENSMUST00000154772
Predicted Effect probably damaging
Transcript: ENSMUST00000165389
AA Change: Y118N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133200
Gene: ENSMUSG00000011958
AA Change: Y118N

DomainStartEndE-ValueType
SEC14 150 301 5.62e-18 SMART
Meta Mutation Damage Score 0.2563 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb16 T A 11: 102,159,885 (GRCm39) D79E probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
B230307C23Rik T A 16: 97,810,199 (GRCm39) N62K probably benign Het
B3galnt2 G A 13: 14,150,220 (GRCm39) probably null Het
Bptf C A 11: 106,965,024 (GRCm39) R1275L probably benign Het
Cacna1g T C 11: 94,349,916 (GRCm39) probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdh4 T C 2: 179,422,160 (GRCm39) S95P probably benign Het
Ceacam5 G A 7: 17,494,748 (GRCm39) E919K possibly damaging Het
Eftud2 T C 11: 102,735,027 (GRCm39) E624G probably damaging Het
Hr T A 14: 70,795,236 (GRCm39) N289K probably damaging Het
Hsp90ab1 A G 17: 45,880,214 (GRCm39) Y110H probably damaging Het
Map3k1 A G 13: 111,890,425 (GRCm39) V1258A probably damaging Het
Naa11 A T 5: 97,539,648 (GRCm39) V170E probably benign Het
Nmd3 C T 3: 69,654,095 (GRCm39) R413C probably damaging Het
Or4k51 G T 2: 111,584,914 (GRCm39) V107F probably benign Het
Or56b2 A G 7: 104,337,599 (GRCm39) I126V probably benign Het
Pgm3 G T 9: 86,441,563 (GRCm39) P345T probably benign Het
Ptpn14 C A 1: 189,583,596 (GRCm39) D814E probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Ros1 A T 10: 52,021,912 (GRCm39) V624E probably damaging Het
Sgo2b T C 8: 64,384,361 (GRCm39) K212E probably benign Het
Shisa2 T A 14: 59,867,228 (GRCm39) L160Q probably damaging Het
Strn4 A G 7: 16,556,506 (GRCm39) Y123C probably damaging Het
Sycp2 T C 2: 178,016,177 (GRCm39) T762A probably benign Het
Tiam2 A G 17: 3,471,959 (GRCm39) K534E possibly damaging Het
Trdn A T 10: 33,344,185 (GRCm39) D633V probably benign Het
Ttn T C 2: 76,747,333 (GRCm39) Y4572C possibly damaging Het
Unc79 T A 12: 103,054,920 (GRCm39) N921K probably damaging Het
Vmn2r66 A G 7: 84,644,397 (GRCm39) V671A probably damaging Het
Wdr86 T A 5: 24,923,339 (GRCm39) T118S probably damaging Het
Zfp446 T A 7: 12,716,580 (GRCm39) I517N probably damaging Het
Zfp830 G A 11: 82,656,188 (GRCm39) E331K possibly damaging Het
Other mutations in Bnip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01767:Bnip2 APN 9 69,909,398 (GRCm39) splice site probably benign
IGL01976:Bnip2 APN 9 69,908,116 (GRCm39) splice site probably benign
IGL03226:Bnip2 APN 9 69,903,456 (GRCm39) missense probably benign 0.00
schmalhans UTSW 9 69,909,393 (GRCm39) missense probably null 1.00
R0243:Bnip2 UTSW 9 69,902,787 (GRCm39) missense probably damaging 1.00
R0637:Bnip2 UTSW 9 69,910,955 (GRCm39) splice site probably null
R3687:Bnip2 UTSW 9 69,906,432 (GRCm39) missense probably damaging 1.00
R4577:Bnip2 UTSW 9 69,904,444 (GRCm39) missense probably benign 0.00
R4974:Bnip2 UTSW 9 69,910,716 (GRCm39) missense possibly damaging 0.91
R5924:Bnip2 UTSW 9 69,904,444 (GRCm39) missense probably benign 0.00
R5957:Bnip2 UTSW 9 69,906,520 (GRCm39) missense probably damaging 1.00
R6629:Bnip2 UTSW 9 69,909,393 (GRCm39) missense probably null 1.00
R6716:Bnip2 UTSW 9 69,910,943 (GRCm39) missense probably damaging 1.00
R7496:Bnip2 UTSW 9 69,910,686 (GRCm39) missense probably damaging 0.96
R8415:Bnip2 UTSW 9 69,910,967 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- GGCCTTAAGTAAGAACAAGCCTTTTC -3'
(R):5'- AGCGTTAGATTTTGGACATTGC -3'

Sequencing Primer
(F):5'- GTACTCCCAGATGCTTGGACAC -3'
(R):5'- TGGACATTGCATGTAAAGACCC -3'
Posted On 2015-02-19