Incidental Mutation 'R3439:Vpreb3'
Institutional Source Beutler Lab
Gene Symbol Vpreb3
Ensembl Gene ENSMUSG00000000903
Gene Namepre-B lymphocyte gene 3
Synonyms8HS-20, Vpreb-3
MMRRC Submission 040657-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.011) question?
Stock #R3439 (G1)
Quality Score225
Status Validated
Chromosomal Location75943057-75949657 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 75943222 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121151] [ENSMUST00000219979]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000059658
SMART Domains Protein: ENSMUSP00000055979
Gene: ENSMUSG00000050157

Pfam:Il2rg 2 89 6.7e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117331
Predicted Effect unknown
Transcript: ENSMUST00000121151
AA Change: A2V
SMART Domains Protein: ENSMUSP00000113205
Gene: ENSMUSG00000000903
AA Change: A2V

IGv 43 124 1.81e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000219979
Meta Mutation Damage Score 0.0896 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (30/30)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T C 7: 131,188,779 probably null Het
Agxt2 C A 15: 10,381,425 P255Q probably benign Het
Dnah10 T C 5: 124,796,258 Y2458H possibly damaging Het
Dnhd1 A G 7: 105,694,785 T1779A probably damaging Het
Glb1l A T 1: 75,202,620 C222S probably damaging Het
Gm12666 A C 4: 92,191,682 V23G possibly damaging Het
Gnb1l A G 16: 18,552,367 T203A probably benign Het
Helq T C 5: 100,798,304 E57G probably damaging Het
Kng2 T C 16: 23,012,071 I163V probably benign Het
Lingo1 T C 9: 56,620,733 T191A probably benign Het
Lrrc37a G A 11: 103,497,864 T2245I unknown Het
Med13 T C 11: 86,285,297 D1624G probably damaging Het
Mthfsd A G 8: 121,099,121 V218A possibly damaging Het
Naip1 A T 13: 100,423,219 D1092E probably benign Het
Nom1 T C 5: 29,435,617 S314P probably benign Het
Nwd2 G A 5: 63,804,552 R493H probably benign Het
Olfr1311 T C 2: 112,021,447 M136V possibly damaging Het
Olfr235 A T 19: 12,268,395 H55L possibly damaging Het
Palm C T 10: 79,816,784 probably benign Het
Pitpnm1 A G 19: 4,112,752 E1115G probably benign Het
Plod3 G C 5: 136,988,146 A50P probably benign Het
Prrc2b T C 2: 32,206,347 F577L probably benign Het
Rnpepl1 A T 1: 92,916,940 T385S possibly damaging Het
Serpinb7 A T 1: 107,428,351 I35F probably damaging Het
Srbd1 C T 17: 86,057,759 S623N probably benign Het
Tchh A G 3: 93,447,393 E1380G unknown Het
Tet2 G T 3: 133,466,831 A1890D possibly damaging Het
Tfr2 G T 5: 137,574,651 V215F probably benign Het
Vwde T A 6: 13,208,375 L169F probably damaging Het
Other mutations in Vpreb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Vpreb3 APN 10 75948397 missense probably benign
IGL02051:Vpreb3 APN 10 75948410 critical splice donor site probably null
IGL03162:Vpreb3 APN 10 75949299 missense probably damaging 1.00
R2319:Vpreb3 UTSW 10 75943222 unclassified probably benign
R2891:Vpreb3 UTSW 10 75943222 unclassified probably benign
R2892:Vpreb3 UTSW 10 75943222 unclassified probably benign
R2894:Vpreb3 UTSW 10 75943222 unclassified probably benign
R3438:Vpreb3 UTSW 10 75943222 unclassified probably benign
R3508:Vpreb3 UTSW 10 75949203 missense probably benign 0.26
R3725:Vpreb3 UTSW 10 75943291 critical splice donor site probably null
R3726:Vpreb3 UTSW 10 75943291 critical splice donor site probably null
R3771:Vpreb3 UTSW 10 75939966 missense probably benign 0.00
R4975:Vpreb3 UTSW 10 75939802 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-02-18