Incidental Mutation 'R5924:Bnip2'
ID 461731
Institutional Source Beutler Lab
Gene Symbol Bnip2
Ensembl Gene ENSMUSG00000011958
Gene Name BCL2/adenovirus E1B interacting protein 2
Synonyms 5730523P12Rik
MMRRC Submission 044119-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5924 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 69896748-69915599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69904444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 67 (D67G)
Ref Sequence ENSEMBL: ENSMUSP00000117957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034754] [ENSMUST00000085393] [ENSMUST00000117450] [ENSMUST00000154772] [ENSMUST00000165389]
AlphaFold O54940
Predicted Effect probably benign
Transcript: ENSMUST00000034754
AA Change: D67G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034754
Gene: ENSMUSG00000011958
AA Change: D67G

DomainStartEndE-ValueType
SEC14 150 301 3.23e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085393
AA Change: D67G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082513
Gene: ENSMUSG00000011958
AA Change: D67G

DomainStartEndE-ValueType
SEC14 150 301 5.62e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117450
AA Change: D67G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113466
Gene: ENSMUSG00000011958
AA Change: D67G

DomainStartEndE-ValueType
SEC14 150 301 1.19e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143049
Predicted Effect probably benign
Transcript: ENSMUST00000154772
AA Change: D67G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000165389
AA Change: D67G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133200
Gene: ENSMUSG00000011958
AA Change: D67G

DomainStartEndE-ValueType
SEC14 150 301 5.62e-18 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T C 18: 10,706,085 (GRCm39) Y76C probably damaging Het
Agbl1 C T 7: 76,058,982 (GRCm39) T204I probably benign Het
Apc2 A T 10: 80,147,984 (GRCm39) I984F probably damaging Het
Art3 A T 5: 92,560,091 (GRCm39) probably benign Het
B4galnt4 A G 7: 140,650,742 (GRCm39) M839V probably damaging Het
Cdhr2 A C 13: 54,874,496 (GRCm39) D856A probably benign Het
Cep78 A T 19: 15,938,430 (GRCm39) L506Q probably damaging Het
Col6a1 A G 10: 76,554,205 (GRCm39) probably null Het
Cyp3a44 A T 5: 145,731,137 (GRCm39) F221Y possibly damaging Het
Dcakd C A 11: 102,890,646 (GRCm39) R47L probably benign Het
Ddr2 A G 1: 169,822,197 (GRCm39) V417A probably benign Het
Dnah5 A T 15: 28,307,473 (GRCm39) T1734S probably benign Het
Eefsec A T 6: 88,332,529 (GRCm39) M227K probably damaging Het
Eif4g3 T G 4: 137,929,237 (GRCm39) N1628K probably damaging Het
Epha5 A T 5: 84,381,533 (GRCm39) Y439* probably null Het
Esrp1 G T 4: 11,361,174 (GRCm39) T324K probably damaging Het
Flnb T A 14: 7,890,765 (GRCm38) M549K probably benign Het
Fndc1 T A 17: 7,992,442 (GRCm39) Q418L unknown Het
Ggnbp2 A G 11: 84,749,363 (GRCm39) S144P possibly damaging Het
Gk5 T C 9: 96,032,563 (GRCm39) probably null Het
Gpr137 A G 19: 6,916,729 (GRCm39) L228P probably damaging Het
Gpt2 C A 8: 86,219,633 (GRCm39) S26R probably damaging Het
Hras C T 7: 140,772,374 (GRCm39) E91K possibly damaging Het
Ighv1-36 G A 12: 114,843,777 (GRCm39) P28S possibly damaging Het
Kalrn G A 16: 34,064,203 (GRCm39) T807M probably damaging Het
Lifr A G 15: 7,202,453 (GRCm39) T365A probably benign Het
Lpin1 A T 12: 16,594,658 (GRCm39) S795T possibly damaging Het
Magi2 A C 5: 20,816,067 (GRCm39) M1128L probably benign Het
Magi3 A T 3: 103,961,854 (GRCm39) probably null Het
Mier1 T A 4: 103,016,899 (GRCm39) L380* probably null Het
Mtmr14 A G 6: 113,230,750 (GRCm39) Y118C probably damaging Het
Myof A T 19: 37,971,421 (GRCm39) M277K probably damaging Het
Nlrp6 T C 7: 140,503,403 (GRCm39) V473A probably damaging Het
Nsfl1c T A 2: 151,347,320 (GRCm39) N164K probably benign Het
Olfm3 A T 3: 114,916,187 (GRCm39) Q353L probably benign Het
Opn5 A T 17: 42,922,199 (GRCm39) M1K probably null Het
Or2y3 A G 17: 38,393,254 (GRCm39) V205A probably benign Het
Or4k15 A G 14: 50,364,139 (GRCm39) Y35C probably damaging Het
Or5d41 T C 2: 88,054,891 (GRCm39) I162V probably benign Het
Pax8 A G 2: 24,311,634 (GRCm39) S434P probably damaging Het
Pigo G A 4: 43,023,389 (GRCm39) Q256* probably null Het
Pik3ap1 A C 19: 41,284,895 (GRCm39) F597V probably damaging Het
Pkd2 A G 5: 104,646,424 (GRCm39) K744E probably damaging Het
Prom1 T C 5: 44,162,305 (GRCm39) T729A probably benign Het
Rasal1 T C 5: 120,813,582 (GRCm39) L652P probably damaging Het
Sebox T C 11: 78,395,017 (GRCm39) probably null Het
Setd2 A T 9: 110,403,112 (GRCm39) I1918F probably benign Het
Slc24a2 A T 4: 86,929,825 (GRCm39) probably null Het
Slc28a1 G T 7: 80,765,360 (GRCm39) G25V probably benign Het
Slc51a A G 16: 32,295,990 (GRCm39) F259L possibly damaging Het
Slco2a1 T A 9: 102,923,898 (GRCm39) C37* probably null Het
Speer4f2 A G 5: 17,581,622 (GRCm39) D188G probably damaging Het
Stim2 A G 5: 54,259,985 (GRCm39) K156E probably benign Het
Strn4 T C 7: 16,572,246 (GRCm39) I653T probably damaging Het
Tacr3 G T 3: 134,638,060 (GRCm39) D406Y possibly damaging Het
Utp20 G A 10: 88,651,784 (GRCm39) R400C probably benign Het
V1rd19 C T 7: 23,703,374 (GRCm39) S280L probably benign Het
Vmn2r4 C T 3: 64,296,685 (GRCm39) C700Y probably damaging Het
Zup1 A T 10: 33,803,543 (GRCm39) C514S probably 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
R3686:Bnip2 UTSW 9 69,906,432 (GRCm39) missense probably damaging 1.00
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
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'- ATCTTCTTTTAGAAAGCAGCAGCG -3'
(R):5'- GGCCATATCATACTTCTCCTAAAGAG -3'

Sequencing Primer
(F):5'- CAGCGGTGATCACAACCAGG -3'
(R):5'- GAGAACACCATGGTAAACACTATG -3'
Posted On 2017-02-28