Incidental Mutation 'R7845:Bcl2l2'
ID 606578
Institutional Source Beutler Lab
Gene Symbol Bcl2l2
Ensembl Gene ENSMUSG00000089682
Gene Name BCL2-like 2
Synonyms Bcl-w, bclw, Gtrgal2, Gtrosa41
MMRRC Submission 045899-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.634) question?
Stock # R7845 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55120900-55125691 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55122308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 157 (Y157C)
Ref Sequence ENSEMBL: ENSMUSP00000116385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022806] [ENSMUST00000133397] [ENSMUST00000134077] [ENSMUST00000172844] [ENSMUST00000227108]
AlphaFold P70345
Predicted Effect probably benign
Transcript: ENSMUST00000022806
SMART Domains Protein: ENSMUSP00000022806
Gene: ENSMUSG00000089682

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 unknown
Transcript: ENSMUST00000133397
AA Change: Y157C
SMART Domains Protein: ENSMUSP00000116385
Gene: ENSMUSG00000089682
AA Change: Y157C

DomainStartEndE-ValueType
BH4 6 32 1.28e-11 SMART
BCL 46 144 1.22e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134077
SMART Domains Protein: ENSMUSP00000117229
Gene: ENSMUSG00000092232

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 benign
Transcript: ENSMUST00000172844
SMART Domains Protein: ENSMUSP00000133286
Gene: ENSMUSG00000089682

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (43/45)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,229 (GRCm39) H483R probably damaging Het
Acot2 G T 12: 84,039,762 (GRCm39) G424* probably null Het
Adat2 G T 10: 13,428,741 (GRCm39) probably benign Het
Arhgef18 T C 8: 3,436,959 (GRCm39) Y250H probably damaging Het
Bglap2 T A 3: 88,286,001 (GRCm39) probably benign Het
Ccdc14 T C 16: 34,535,734 (GRCm39) L495P probably damaging Het
Cobl T C 11: 12,315,139 (GRCm39) D275G probably benign Het
Cpne2 A G 8: 95,277,832 (GRCm39) N72S probably benign Het
D7Ertd443e A G 7: 133,871,977 (GRCm39) F628S probably damaging Het
Dars2 A T 1: 160,869,318 (GRCm39) S644T probably benign Het
Depdc5 A G 5: 33,061,259 (GRCm39) probably null Het
Dip2c A G 13: 9,659,080 (GRCm39) S860G probably damaging Het
Dnajc21 T G 15: 10,447,227 (GRCm39) H507P probably damaging Het
Eif2ak2 G T 17: 79,171,327 (GRCm39) Q359K probably damaging Het
Epha8 T C 4: 136,663,712 (GRCm39) E448G probably benign Het
Exoc3l G C 8: 106,016,782 (GRCm39) S677R probably damaging Het
Fads1 T A 19: 10,171,405 (GRCm39) H345Q probably damaging Het
Fam118a T A 15: 84,930,052 (GRCm39) D93E possibly damaging Het
Fam135a T C 1: 24,068,738 (GRCm39) I710M probably benign Het
Fbxw14 T A 9: 109,116,671 (GRCm39) I13F probably damaging Het
Gemin6 A G 17: 80,533,090 (GRCm39) S8G probably benign Het
Ints2 A T 11: 86,129,089 (GRCm39) M498K possibly damaging Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Mast1 C A 8: 85,651,954 (GRCm39) E343* probably null Het
Micu1 T C 10: 59,675,607 (GRCm39) probably null Het
Mis18bp1 A G 12: 65,196,102 (GRCm39) I554T probably benign Het
Mrps28 T A 3: 8,988,775 (GRCm39) N28Y possibly damaging Het
Mtpap T A 18: 4,387,134 (GRCm39) S395T possibly damaging Het
Muc16 A T 9: 18,552,069 (GRCm39) H4741Q probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or13p8 T C 4: 118,584,158 (GRCm39) M238T probably benign Het
Or4k44 C A 2: 111,368,512 (GRCm39) G41* probably null Het
Or51f23 G A 7: 102,453,492 (GRCm39) R269Q not run Het
Ptx4 T C 17: 25,343,928 (GRCm39) Y393H possibly damaging Het
Ranbp2 G A 10: 58,282,844 (GRCm39) V15M probably damaging Het
Rbp3 G T 14: 33,678,421 (GRCm39) A790S probably benign Het
Rfx6 T A 10: 51,554,122 (GRCm39) S73T probably benign Het
Sec14l3 T A 11: 4,017,972 (GRCm39) M84K probably benign Het
Sec23b T A 2: 144,401,316 (GRCm39) V59E possibly damaging Het
Slc2a1 T C 4: 118,993,125 (GRCm39) V425A possibly damaging Het
Stab2 A T 10: 86,832,758 (GRCm39) V89D probably benign Het
Stra8 A G 6: 34,907,899 (GRCm39) D117G probably benign Het
Syt17 A T 7: 118,009,194 (GRCm39) I338N possibly damaging Het
Tas2r136 T A 6: 132,754,833 (GRCm39) Y98F probably benign Het
Tsks C A 7: 44,603,168 (GRCm39) probably null Het
Wdr62 A G 7: 29,964,667 (GRCm39) V359A possibly damaging Het
Xrcc6 T C 15: 81,900,678 (GRCm39) probably null 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
R5278:Bcl2l2 UTSW 14 55,122,251 (GRCm39) missense probably damaging 0.98
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
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'- TCCGACGAACTTTTCCAAGGG -3'
(R):5'- TTCAGTCTTCTGCTTGGGAC -3'

Sequencing Primer
(F):5'- AACTTTTCCAAGGGGGCCC -3'
(R):5'- TTGGGACCGTGAAGCCCATC -3'
Posted On 2019-12-20