Incidental Mutation 'R3922:Becn2'
ID 474693
Institutional Source Beutler Lab
Gene Symbol Becn2
Ensembl Gene
Gene Name beclin 2
Synonyms Gm38100, LOC226720, Gm104
MMRRC Submission 040819-MU
Accession Numbers
Essential gene? Not available question?
Stock # R3922 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 175747895-175749791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 175748852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 306 (V306A)
Ref Sequence ENSEMBL: ENSMUSP00000144267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000194391] [ENSMUST00000201297]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000194391
AA Change: V306A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000144267
Gene: ENSMUSG00000104158
AA Change: V306A

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
Pfam:APG6 126 440 1.2e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201297
AA Change: V306A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143887
Gene: ENSMUSG00000104158
AA Change: V306A

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
Pfam:APG6 126 440 6.1e-95 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (44/44)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic and preweaning lethality with imapired basal and starvation-induced autophagy. Mice heterozygous for this allele exhibit increased susteptibility to obesity, insulin resistance and impaired glucosetolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
4921504E06Rik T A 2: 19,485,371 (GRCm39) E432V probably benign Het
Ahnak G A 19: 8,983,692 (GRCm39) D1659N probably benign Het
Arfgap2 C T 2: 91,105,150 (GRCm39) R405W probably damaging Het
Arhgef28 A G 13: 98,130,452 (GRCm39) L462P possibly damaging Het
Arid1b T C 17: 5,393,316 (GRCm39) V2282A probably damaging Het
Cdkl1 G T 12: 69,803,373 (GRCm39) R168S probably damaging Het
Cep70 T A 9: 99,157,632 (GRCm39) *117R probably null Het
Cnnm1 A G 19: 43,428,884 (GRCm39) M1V probably null Het
Cntrl A G 2: 35,019,751 (GRCm39) E526G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Ddx59 T A 1: 136,344,482 (GRCm39) V51D probably benign Het
Dtd2 G C 12: 52,051,734 (GRCm39) probably null Het
Eea1 T A 10: 95,872,495 (GRCm39) N1068K probably benign Het
Egfr T A 11: 16,831,495 (GRCm39) C555S probably damaging Het
Esd A T 14: 74,980,667 (GRCm39) Q130H probably benign Het
Gpr89 A T 3: 96,798,215 (GRCm39) I147N probably damaging Het
H2-M10.1 T A 17: 36,636,577 (GRCm39) I76L probably benign Het
Lgi4 A T 7: 30,766,873 (GRCm39) D300V probably benign Het
Lrp1b C A 2: 40,567,593 (GRCm39) V276L unknown Het
Lrp2 T C 2: 69,336,720 (GRCm39) K1351E probably benign Het
Mroh8 T C 2: 157,064,731 (GRCm39) I782V probably benign Het
Msrb1 T C 17: 24,959,057 (GRCm39) S70P probably damaging Het
Nek10 T C 14: 14,861,585 (GRCm38) M547T possibly damaging Het
Or51ah3 T C 7: 103,209,912 (GRCm39) V76A probably benign Het
Or6c2b C A 10: 128,947,482 (GRCm39) V271F possibly damaging Het
Or9i2 T C 19: 13,816,130 (GRCm39) T136A probably damaging Het
P4htm T C 9: 108,460,094 (GRCm39) N227D probably benign Het
Plekhm2 T C 4: 141,356,843 (GRCm39) T787A probably benign Het
Pramel5 A G 4: 143,999,622 (GRCm39) L155P probably damaging Het
Sbno1 T C 5: 124,519,993 (GRCm39) Y1122C probably damaging Het
Scn9a T A 2: 66,357,217 (GRCm39) D1028V possibly damaging Het
Sft2d1 G T 17: 8,537,714 (GRCm39) L34F possibly damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Slc27a3 G T 3: 90,294,392 (GRCm39) H460N possibly damaging Het
Slc35g2 A T 9: 100,434,780 (GRCm39) I297N probably benign Het
Ssh1 T G 5: 114,080,769 (GRCm39) Q865P possibly damaging Het
Trp63 A G 16: 25,707,759 (GRCm39) D583G probably damaging Het
Usp28 T C 9: 48,942,223 (GRCm39) probably null Het
Wdr43 A G 17: 71,945,296 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,465,707 (GRCm39) Y1955C probably damaging Het
Zfp108 G A 7: 23,960,773 (GRCm39) G455R probably damaging Het
Zfp353-ps A T 8: 42,536,049 (GRCm39) noncoding transcript Het
Other mutations in Becn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3623:Becn2 UTSW 1 175,748,197 (GRCm39) missense possibly damaging 0.88
R3925:Becn2 UTSW 1 175,748,852 (GRCm39) missense probably benign 0.00
R3926:Becn2 UTSW 1 175,748,852 (GRCm39) missense probably benign 0.00
R5192:Becn2 UTSW 1 175,748,408 (GRCm39) missense probably benign 0.24
R5275:Becn2 UTSW 1 175,748,336 (GRCm39) missense probably benign 0.07
R5666:Becn2 UTSW 1 175,749,179 (GRCm39) missense probably damaging 1.00
R5670:Becn2 UTSW 1 175,749,179 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-04-14