Incidental Mutation 'IGL00778:Raver2'
ID13770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Raver2
Ensembl Gene ENSMUSG00000035275
Gene Nameribonucleoprotein, PTB-binding 2
SynonymsA430091O22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL00778
Quality Score
Status
Chromosome4
Chromosomal Location101068983-101152370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 101096271 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 79 (Q79K)
Ref Sequence ENSEMBL: ENSMUSP00000102568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038463] [ENSMUST00000106955]
Predicted Effect probably benign
Transcript: ENSMUST00000038463
AA Change: Q79K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043142
Gene: ENSMUSG00000035275
AA Change: Q79K

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
RRM 59 125 8.2e-11 SMART
RRM 132 205 1.67e-11 SMART
RRM 221 294 2.12e-4 SMART
low complexity region 362 379 N/A INTRINSIC
low complexity region 499 512 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106955
AA Change: Q79K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102568
Gene: ENSMUSG00000035275
AA Change: Q79K

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
RRM 59 125 8.2e-11 SMART
RRM 132 205 1.67e-11 SMART
RRM 221 294 2.12e-4 SMART
low complexity region 362 379 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148148
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik G A 14: 44,163,934 H152Y probably benign Het
Abca1 T C 4: 53,086,132 D457G probably benign Het
Atp8a1 T G 5: 67,659,903 K913N possibly damaging Het
Cd180 G A 13: 102,705,409 S321N probably benign Het
Cdc14b T C 13: 64,215,656 N264D probably damaging Het
Cenpf A T 1: 189,654,912 C1724S probably benign Het
Chil4 A G 3: 106,201,797 S397P probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Csgalnact2 A T 6: 118,126,272 M1K probably null Het
Enpp3 C A 10: 24,798,262 C380F probably damaging Het
Gtf3c1 G A 7: 125,667,374 R967W probably damaging Het
Hnrnpr T A 4: 136,339,545 D472E unknown Het
Klhl28 A T 12: 64,950,066 D500E probably damaging Het
Lmo7 C T 14: 101,910,885 probably benign Het
Mphosph8 A G 14: 56,674,443 I308V probably benign Het
Myo6 T A 9: 80,283,586 probably null Het
Nsmaf C T 4: 6,435,056 probably null Het
Padi6 T A 4: 140,727,623 I668L possibly damaging Het
Pigw A G 11: 84,877,324 I393T possibly damaging Het
Prg3 G A 2: 84,993,732 C212Y probably damaging Het
Pwp1 T C 10: 85,879,888 V267A probably benign Het
Sdr9c7 T C 10: 127,909,828 S270P probably damaging Het
Sfmbt2 A G 2: 10,402,007 E39G probably damaging Het
Strada A G 11: 106,171,150 probably benign Het
Xrn1 T C 9: 95,973,447 probably benign Het
Zic3 A G X: 58,034,419 Y424C probably damaging Het
Other mutations in Raver2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Raver2 APN 4 101102868 missense probably damaging 1.00
IGL01363:Raver2 APN 4 101120583 splice site probably benign
IGL02631:Raver2 APN 4 101096302 missense probably damaging 0.96
R0071:Raver2 UTSW 4 101120445 splice site probably benign
R0071:Raver2 UTSW 4 101120445 splice site probably benign
R0792:Raver2 UTSW 4 101102950 missense probably damaging 1.00
R1450:Raver2 UTSW 4 101136152 missense possibly damaging 0.58
R2044:Raver2 UTSW 4 101102812 missense probably damaging 1.00
R5127:Raver2 UTSW 4 101102985 missense probably damaging 1.00
R5162:Raver2 UTSW 4 101102724 missense probably damaging 1.00
R5342:Raver2 UTSW 4 101102692 missense possibly damaging 0.47
R5557:Raver2 UTSW 4 101136139 missense probably benign 0.04
R6190:Raver2 UTSW 4 101133617 missense probably benign 0.00
R6248:Raver2 UTSW 4 101134123 splice site probably null
R6449:Raver2 UTSW 4 101133672 missense probably benign 0.41
R6640:Raver2 UTSW 4 101131303 missense probably damaging 0.98
R6852:Raver2 UTSW 4 101133590 missense probably benign 0.00
R7196:Raver2 UTSW 4 101102859 missense probably damaging 1.00
R7449:Raver2 UTSW 4 101102663 missense probably damaging 1.00
R7459:Raver2 UTSW 4 101107213 missense possibly damaging 0.83
R8025:Raver2 UTSW 4 101102965 nonsense probably null
RF017:Raver2 UTSW 4 101102998 missense probably damaging 0.99
Posted On2012-12-06