Incidental Mutation 'R5278:Bcl2l2'
ID 404068
Institutional Source Beutler Lab
Gene Symbol Bcl2l2
Ensembl Gene ENSMUSG00000089682
Gene Name BCL2-like 2
Synonyms Bcl-w, bclw, Gtrgal2, Gtrosa41
MMRRC Submission 042865-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.634) question?
Stock # R5278 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55120900-55125691 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55122251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 138 (I138N)
Ref Sequence ENSEMBL: ENSMUSP00000116385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022806] [ENSMUST00000133397] [ENSMUST00000134077] [ENSMUST00000172844] [ENSMUST00000227108]
AlphaFold P70345
Predicted Effect probably damaging
Transcript: ENSMUST00000022806
AA Change: I138N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022806
Gene: ENSMUSG00000089682
AA Change: I138N

DomainStartEndE-ValueType
BH4 6 32 1.28e-11 SMART
BCL 46 144 1.22e-45 SMART
low complexity region 172 188 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131243
Predicted Effect probably damaging
Transcript: ENSMUST00000133397
AA Change: I138N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116385
Gene: ENSMUSG00000089682
AA Change: I138N

DomainStartEndE-ValueType
BH4 6 32 1.28e-11 SMART
BCL 46 144 1.22e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134077
AA Change: I138N

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117229
Gene: ENSMUSG00000092232
AA Change: I138N

DomainStartEndE-ValueType
BH4 6 32 1.28e-11 SMART
BCL 46 144 1.22e-45 SMART
low complexity region 155 169 N/A INTRINSIC
RRM 200 272 4.19e-17 SMART
low complexity region 314 326 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172844
AA Change: I24N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133286
Gene: ENSMUSG00000089682
AA Change: I24N

DomainStartEndE-ValueType
Pfam:Bcl-2 1 30 3.9e-7 PFAM
Blast:BCL 31 53 1e-7 BLAST
transmembrane domain 55 77 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227108
Meta Mutation Damage Score 0.8363 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mutants are male sterile with progressive loss of germ cells, Sertoli cells and Leydig cells beginning at puberty. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 C T 5: 35,745,500 (GRCm39) probably benign Het
Acvr2b G A 9: 119,261,555 (GRCm39) V383I probably damaging Het
Akap12 T C 10: 4,304,792 (GRCm39) M534T probably benign Het
Akp3 G A 1: 87,052,888 (GRCm39) E26K probably benign Het
Alcam A G 16: 52,094,638 (GRCm39) I371T probably benign Het
Ap2a1 T C 7: 44,552,203 (GRCm39) T794A probably benign Het
Apeh G A 9: 107,968,457 (GRCm39) P349S probably benign Het
Asb7 G T 7: 66,328,933 (GRCm39) Q36K possibly damaging Het
Asl A G 5: 130,047,672 (GRCm39) probably null Het
Atp13a2 T A 4: 140,728,129 (GRCm39) I574N probably damaging Het
Cacna1d C T 14: 30,074,881 (GRCm39) probably null Het
Ccdc9 C T 7: 16,012,306 (GRCm39) W1* probably null Het
Cdh18 T A 15: 23,474,244 (GRCm39) S705T probably benign Het
Ces5a A T 8: 94,252,266 (GRCm39) W209R probably damaging Het
Chpf2 T A 5: 24,793,088 (GRCm39) probably benign Het
Cul9 T A 17: 46,821,799 (GRCm39) H1892L probably damaging Het
Cxcl13 A G 5: 96,106,586 (GRCm39) T53A probably benign Het
Cyp2s1 T A 7: 25,505,309 (GRCm39) Y385F possibly damaging Het
Ddx46 A G 13: 55,823,851 (GRCm39) E915G probably damaging Het
Elovl3 G A 19: 46,122,540 (GRCm39) V113I probably benign Het
Fam53c A T 18: 34,895,671 (GRCm39) probably benign Het
Fbxw15 A T 9: 109,384,752 (GRCm39) F349L probably benign Het
Fuz C T 7: 44,545,701 (GRCm39) P9L probably benign Het
Igf1r C T 7: 67,843,166 (GRCm39) T759M possibly damaging Het
Impg2 G A 16: 56,041,880 (GRCm39) D175N probably benign Het
Jade1 G T 3: 41,543,444 (GRCm39) R43L possibly damaging Het
Kntc1 A G 5: 123,919,077 (GRCm39) E816G probably damaging Het
Mettl8 A T 2: 70,803,641 (GRCm39) D262E probably damaging Het
Mrpl48 A G 7: 100,201,790 (GRCm39) V156A probably damaging Het
Mst1 A C 9: 107,959,414 (GRCm39) K233N probably damaging Het
Myh13 A G 11: 67,225,390 (GRCm39) I252V probably benign Het
Nox4 T C 7: 87,021,134 (GRCm39) W449R probably damaging Het
Or2a52 T C 6: 43,144,655 (GRCm39) L221P probably damaging Het
Or2l5 A T 16: 19,334,128 (GRCm39) L86* probably null Het
Pank4 T C 4: 155,056,622 (GRCm39) L351P probably damaging Het
Pappa2 A T 1: 158,609,973 (GRCm39) probably null Het
Peg10 CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC CCATCAGGATGCACATCAGGATCC 6: 4,756,442 (GRCm39) probably benign Het
Polr3e T A 7: 120,522,184 (GRCm39) I10K possibly damaging Het
Prkdc T C 16: 15,532,838 (GRCm39) I1489T probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sh3pxd2b A G 11: 32,331,447 (GRCm39) D57G probably damaging Het
Shank2 G A 7: 143,622,612 (GRCm39) probably null Het
Slc15a4 A T 5: 127,694,033 (GRCm39) V134E probably damaging Het
Slc49a4 A G 16: 35,518,358 (GRCm39) S452P probably damaging Het
Stxbp5l G T 16: 37,007,016 (GRCm39) Q726K probably benign Het
Tesk2 T G 4: 116,663,133 (GRCm39) probably benign Het
Tex2 A G 11: 106,458,639 (GRCm39) S264P probably benign Het
Tnik A G 3: 28,704,209 (GRCm39) Q1003R probably damaging Het
Trip12 C T 1: 84,739,868 (GRCm39) R628H probably damaging Het
Vmn2r69 G A 7: 85,060,991 (GRCm39) H198Y probably benign Het
Other mutations in Bcl2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03126:Bcl2l2 APN 14 55,122,224 (GRCm39) missense probably damaging 1.00
R2656:Bcl2l2 UTSW 14 55,122,889 (GRCm39) missense probably benign 0.02
R4042:Bcl2l2 UTSW 14 55,122,091 (GRCm39) missense possibly damaging 0.82
R6129:Bcl2l2 UTSW 14 55,122,202 (GRCm39) missense possibly damaging 0.86
R6234:Bcl2l2 UTSW 14 55,122,245 (GRCm39) missense probably benign 0.00
R7205:Bcl2l2 UTSW 14 55,122,058 (GRCm39) missense probably benign
R7699:Bcl2l2 UTSW 14 55,121,836 (GRCm39) start gained probably benign
R7747:Bcl2l2 UTSW 14 55,121,836 (GRCm39) start gained probably benign
R7748:Bcl2l2 UTSW 14 55,121,836 (GRCm39) start gained probably benign
R7779:Bcl2l2 UTSW 14 55,121,836 (GRCm39) start gained probably benign
R7845:Bcl2l2 UTSW 14 55,122,308 (GRCm39) missense unknown
R7855:Bcl2l2 UTSW 14 55,121,836 (GRCm39) start gained probably benign
R8017:Bcl2l2 UTSW 14 55,121,840 (GRCm39) start codon destroyed probably null 0.86
R8427:Bcl2l2 UTSW 14 55,122,860 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCGACGAACTTTTCCAAGG -3'
(R):5'- TCAGTCTTCTGCTTGGGACC -3'

Sequencing Primer
(F):5'- AACTTTTCCAAGGGGGCC -3'
(R):5'- TACTACTACATGGTAGCCCTGGAG -3'
Posted On 2016-07-22