Incidental Mutation 'IGL03396:Snrpb2'
ID 421258
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrpb2
Ensembl Gene ENSMUSG00000008333
Gene Name U2 small nuclear ribonucleoprotein B
Synonyms 2810052G09Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.679) question?
Stock # IGL03396
Quality Score
Status
Chromosome 2
Chromosomal Location 142904989-142913972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142913377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 194 (F194L)
Ref Sequence ENSEMBL: ENSMUSP00000008477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008477] [ENSMUST00000126763]
AlphaFold Q9CQI7
Predicted Effect possibly damaging
Transcript: ENSMUST00000008477
AA Change: F194L

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000008477
Gene: ENSMUSG00000008333
AA Change: F194L

DomainStartEndE-ValueType
RRM 8 82 8.01e-14 SMART
low complexity region 99 123 N/A INTRINSIC
RRM 152 221 9.42e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126763
SMART Domains Protein: ENSMUSP00000120137
Gene: ENSMUSG00000008333

DomainStartEndE-ValueType
RRM 8 82 8.01e-14 SMART
low complexity region 99 123 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134091
Coding Region Coverage
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 associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl G A 11: 69,902,239 (GRCm39) R457* probably null Het
Arl5b C A 2: 15,079,915 (GRCm39) T153K probably damaging Het
Arsb A T 13: 94,075,825 (GRCm39) Y436F probably benign Het
Azgp1 C T 5: 137,983,445 (GRCm39) P40L possibly damaging Het
B020004C17Rik A G 14: 57,253,993 (GRCm39) T39A possibly damaging Het
Cacna2d3 G A 14: 29,442,834 (GRCm39) Q67* probably null Het
Cdcp2 C A 4: 106,964,369 (GRCm39) Y406* probably null Het
Cep89 T A 7: 35,128,603 (GRCm39) D585E probably benign Het
Cfap65 A G 1: 74,943,801 (GRCm39) F1570S probably damaging Het
Cnfn A G 7: 25,067,783 (GRCm39) probably benign Het
Fgd6 G A 10: 93,880,318 (GRCm39) V391I probably benign Het
Fra10ac1 C T 19: 38,189,994 (GRCm39) probably null Het
Gjd3 T C 11: 102,691,353 (GRCm39) K217E probably benign Het
Il20rb T C 9: 100,341,251 (GRCm39) E285G probably damaging Het
Ints2 T C 11: 86,103,888 (GRCm39) T1086A probably damaging Het
Itih4 A T 14: 30,609,906 (GRCm39) I79F probably damaging Het
Jmjd6 A T 11: 116,732,077 (GRCm39) L208H probably damaging Het
Lilrb4b A G 10: 51,357,253 (GRCm39) I30V possibly damaging Het
Limch1 A G 5: 67,111,016 (GRCm39) N81S probably damaging Het
Mettl21e A T 1: 44,245,759 (GRCm39) N162K possibly damaging Het
Ninl A G 2: 150,808,132 (GRCm39) S299P possibly damaging Het
Obscn A G 11: 58,964,404 (GRCm39) L3046P probably benign Het
Or1j14 C A 2: 36,417,692 (GRCm39) S89R probably benign Het
Or5b98 T A 19: 12,931,184 (GRCm39) V77E probably damaging Het
Or6c68 A G 10: 129,157,916 (GRCm39) I141M probably benign Het
Pnpla8 G A 12: 44,330,309 (GRCm39) R287H probably benign Het
Pot1a A C 6: 25,745,913 (GRCm39) I596R possibly damaging Het
Prkaa1 A G 15: 5,206,131 (GRCm39) D329G probably damaging Het
Ptprr T G 10: 116,024,235 (GRCm39) V182G probably damaging Het
Rrp1b T A 17: 32,276,237 (GRCm39) probably benign Het
Sec24a A G 11: 51,599,794 (GRCm39) V837A probably benign Het
Slc17a6 A G 7: 51,318,840 (GRCm39) Y494C probably damaging Het
Slc38a10 A T 11: 120,019,301 (GRCm39) I360N probably damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Trpv1 A G 11: 73,143,882 (GRCm39) N238S probably benign Het
Usp20 T C 2: 30,901,729 (GRCm39) V498A probably benign Het
Vmn2r23 T C 6: 123,706,585 (GRCm39) S472P probably damaging Het
Vmn2r98 A T 17: 19,290,107 (GRCm39) T548S possibly damaging Het
Zfp429 A T 13: 67,544,159 (GRCm39) probably benign Het
Other mutations in Snrpb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02796:Snrpb2 UTSW 2 142,906,487 (GRCm39) start codon destroyed probably benign 0.07
R0739:Snrpb2 UTSW 2 142,907,281 (GRCm39) splice site probably benign
R1345:Snrpb2 UTSW 2 142,907,086 (GRCm39) splice site probably benign
R1370:Snrpb2 UTSW 2 142,907,086 (GRCm39) splice site probably benign
R1869:Snrpb2 UTSW 2 142,907,106 (GRCm39) missense possibly damaging 0.89
R4657:Snrpb2 UTSW 2 142,912,893 (GRCm39) missense possibly damaging 0.89
R4841:Snrpb2 UTSW 2 142,910,237 (GRCm39) missense possibly damaging 0.54
R6010:Snrpb2 UTSW 2 142,912,815 (GRCm39) missense possibly damaging 0.49
R6472:Snrpb2 UTSW 2 142,910,221 (GRCm39) missense possibly damaging 0.57
R8167:Snrpb2 UTSW 2 142,910,284 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02