Incidental Mutation 'R3508:Vpreb3'
ID 267470
Institutional Source Beutler Lab
Gene Symbol Vpreb3
Ensembl Gene ENSMUSG00000000903
Gene Name V-set pre-B cell surrogate light chain 3
Synonyms 8HS-20, Vpreb-3
MMRRC Submission 040664-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3508 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 75778891-75785491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 75785037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 45 (H45P)
Ref Sequence ENSEMBL: ENSMUSP00000113205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000926] [ENSMUST00000121151]
AlphaFold D3Z6J4
Predicted Effect probably benign
Transcript: ENSMUST00000000926
AA Change: H38P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000000926
Gene: ENSMUSG00000000903
AA Change: H38P

DomainStartEndE-ValueType
IGv 36 117 1.81e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117331
Predicted Effect probably benign
Transcript: ENSMUST00000121151
AA Change: H45P

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113205
Gene: ENSMUSG00000000903
AA Change: H45P

DomainStartEndE-ValueType
IGv 43 124 1.81e-10 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,953,991 (GRCm39) F816L probably benign Het
Adgrl3 C A 5: 81,872,103 (GRCm39) N932K probably damaging Het
Apol8 T C 15: 77,633,643 (GRCm39) E311G probably damaging Het
Atad2b G A 12: 5,000,595 (GRCm39) probably null Het
Carmil1 A G 13: 24,203,659 (GRCm39) probably benign Het
Cdc20b T C 13: 113,217,576 (GRCm39) S332P possibly damaging Het
Cep162 A G 9: 87,114,030 (GRCm39) probably null Het
Cfap54 T A 10: 92,721,286 (GRCm39) S2482C unknown Het
Cnpy1 T C 5: 28,412,365 (GRCm39) E107G probably damaging Het
Crtac1 C T 19: 42,293,180 (GRCm39) V310I probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Elmo1 T C 13: 20,789,402 (GRCm39) I706T probably damaging Het
F12 T C 13: 55,568,872 (GRCm39) T297A probably benign Het
Fanci A G 7: 79,083,220 (GRCm39) I736V probably benign Het
Fbn1 T C 2: 125,148,247 (GRCm39) N2667S probably benign Het
Flt4 T C 11: 49,524,941 (GRCm39) S596P probably damaging Het
Fndc1 G A 17: 7,983,940 (GRCm39) R1329* probably null Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
H2-M10.1 T G 17: 36,636,506 (GRCm39) R99S possibly damaging Het
Homer3 T A 8: 70,744,005 (GRCm39) V243D probably benign Het
Hspa14 A G 2: 3,492,045 (GRCm39) S437P probably damaging Het
Inpp1 A T 1: 52,838,550 (GRCm39) I33N probably damaging Het
Ipo5 T A 14: 121,176,956 (GRCm39) Y714N probably damaging Het
Kif27 T C 13: 58,461,026 (GRCm39) E898G possibly damaging Het
Klhdc7b T A 15: 89,271,095 (GRCm39) M1K probably null Het
Krt87 A G 15: 101,386,039 (GRCm39) Y241H probably benign Het
Mfsd4b1 A G 10: 39,878,715 (GRCm39) I394T probably benign Het
Micall1 A G 15: 79,006,965 (GRCm39) D264G probably damaging Het
Mms22l T G 4: 24,586,224 (GRCm39) D905E probably benign Het
Musk A G 4: 58,327,347 (GRCm39) D217G probably damaging Het
Napb T C 2: 148,540,880 (GRCm39) T236A probably benign Het
Nbn T A 4: 15,962,387 (GRCm39) D38E probably damaging Het
Ncaph T C 2: 126,969,113 (GRCm39) N87D probably benign Het
Or4a78 A G 2: 89,497,816 (GRCm39) V138A probably benign Het
Pcdhb13 T A 18: 37,576,204 (GRCm39) V194E probably damaging Het
Pck1 T C 2: 173,000,177 (GRCm39) V536A possibly damaging Het
Pld5 C T 1: 175,821,603 (GRCm39) G188S probably damaging Het
Plekha8 T C 6: 54,590,179 (GRCm39) V48A probably damaging Het
Pnkd A G 1: 74,389,793 (GRCm39) T306A probably benign Het
Ppm1k T C 6: 57,491,975 (GRCm39) E279G probably damaging Het
Ppm1l G T 3: 69,456,813 (GRCm39) K243N possibly damaging Het
Ppp1r13b T C 12: 111,838,801 (GRCm39) T26A probably damaging Het
Rtel1 T C 2: 180,964,202 (GRCm39) V67A probably benign Het
Rxfp4 T C 3: 88,559,899 (GRCm39) E184G probably damaging Het
Scp2d1 A G 2: 144,665,918 (GRCm39) I86V probably benign Het
Sec16a G T 2: 26,315,862 (GRCm39) P1718Q probably damaging Het
Sgcg T A 14: 61,459,195 (GRCm39) T245S probably benign Het
Slc18a2 A G 19: 59,261,989 (GRCm39) T215A probably benign Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Sox17 G T 1: 4,562,378 (GRCm39) P146Q probably damaging Het
Spata31d1e A T 13: 59,890,319 (GRCm39) Y500* probably null Het
Stimate C T 14: 30,594,537 (GRCm39) L217F probably damaging Het
Sybu T A 15: 44,536,478 (GRCm39) E616V probably damaging Het
Tk2 C T 8: 104,957,825 (GRCm39) V174I probably benign Het
Tmc5 G A 7: 118,244,618 (GRCm39) V499I probably benign Het
Tonsl T C 15: 76,523,956 (GRCm39) T15A probably benign Het
Ttll12 A G 15: 83,464,831 (GRCm39) I448T probably damaging Het
Ttn A G 2: 76,584,101 (GRCm39) S22336P probably damaging Het
Ubap1 C A 4: 41,379,163 (GRCm39) H126N probably damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Vmn2r84 T C 10: 130,226,777 (GRCm39) N354D probably damaging Het
Zc3h13 T A 14: 75,546,380 (GRCm39) Y160* probably null Het
Other mutations in Vpreb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Vpreb3 APN 10 75,784,231 (GRCm39) missense probably benign
IGL02051:Vpreb3 APN 10 75,784,244 (GRCm39) critical splice donor site probably null
IGL03162:Vpreb3 APN 10 75,785,133 (GRCm39) missense probably damaging 1.00
R2319:Vpreb3 UTSW 10 75,779,056 (GRCm39) unclassified probably benign
R2891:Vpreb3 UTSW 10 75,779,056 (GRCm39) unclassified probably benign
R2892:Vpreb3 UTSW 10 75,779,056 (GRCm39) unclassified probably benign
R2894:Vpreb3 UTSW 10 75,779,056 (GRCm39) unclassified probably benign
R3438:Vpreb3 UTSW 10 75,779,056 (GRCm39) unclassified probably benign
R3439:Vpreb3 UTSW 10 75,779,056 (GRCm39) unclassified probably benign
R3725:Vpreb3 UTSW 10 75,779,125 (GRCm39) critical splice donor site probably null
R3726:Vpreb3 UTSW 10 75,779,125 (GRCm39) critical splice donor site probably null
R3771:Vpreb3 UTSW 10 75,775,800 (GRCm39) missense probably benign 0.00
R4975:Vpreb3 UTSW 10 75,775,636 (GRCm39) missense probably damaging 1.00
Z1177:Vpreb3 UTSW 10 75,785,027 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAACCATCCAGGGCACTAG -3'
(R):5'- AAGTAATCGGCATCATCCTCCG -3'

Sequencing Primer
(F):5'- GCACTAGGCTCTGAAAAATATTTGGG -3'
(R):5'- ATCATCCTCCGGGAGCAC -3'
Posted On 2015-02-18