Incidental Mutation 'IGL00325:Raver2'
ID6623
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: 0.116) question?
Stock #IGL00325
Quality Score
Status
Chromosome4
Chromosomal Location101068983-101152370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101102868 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 182 (K182E)
Ref Sequence ENSEMBL: ENSMUSP00000102568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038463] [ENSMUST00000106955]
Predicted Effect probably damaging
Transcript: ENSMUST00000038463
AA Change: K182E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043142
Gene: ENSMUSG00000035275
AA Change: K182E

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 damaging
Transcript: ENSMUST00000106955
AA Change: K182E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102568
Gene: ENSMUSG00000035275
AA Change: K182E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157926
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,882,691 S431P possibly damaging Het
Arid1b C A 17: 5,337,110 R1613S possibly damaging Het
Atxn2l T C 7: 126,498,288 D196G possibly damaging Het
Bag3 C A 7: 128,546,341 T560K probably benign Het
BC051076 A G 5: 87,964,495 probably benign Het
Becn1 A T 11: 101,295,622 M18K probably benign Het
C130050O18Rik G A 5: 139,414,738 C182Y probably damaging Het
Cfap43 A G 19: 47,823,188 probably benign Het
Cfap97 C T 8: 46,170,185 S204L probably damaging Het
Gaa A G 11: 119,274,960 T100A probably benign Het
Gab2 C T 7: 97,299,258 P352S probably damaging Het
Gckr T A 5: 31,307,767 I360N possibly damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gulo G T 14: 66,005,949 A40D probably damaging Het
Irs1 T C 1: 82,288,483 I671V probably benign Het
Itgax T C 7: 128,148,309 V1028A possibly damaging Het
Lamb3 T C 1: 193,320,447 C67R probably damaging Het
Mpdz A T 4: 81,317,631 V1237E probably damaging Het
Nat8 C T 6: 85,830,597 V185M probably benign Het
Ninj2 A C 6: 120,198,062 T65P probably benign Het
Nrg2 T C 18: 36,021,218 M549V probably benign Het
Nwd2 A G 5: 63,805,475 M801V probably benign Het
Pde8b T C 13: 95,034,367 D589G probably damaging Het
Ppp1r35 T A 5: 137,779,537 V155E probably damaging Het
Prss36 T A 7: 127,944,927 probably benign Het
Ring1 T G 17: 34,023,009 E142A possibly damaging Het
Sidt2 T A 9: 45,942,236 M689L possibly damaging Het
Slc45a4 A G 15: 73,587,655 V95A probably damaging Het
Ssc5d T C 7: 4,944,481 V1278A possibly damaging Het
Stk36 A T 1: 74,634,702 K1251N possibly damaging Het
Utp14b T A 1: 78,664,545 S53R probably damaging Het
Vmn2r17 A T 5: 109,427,992 E243V probably benign Het
Other mutations in Raver2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Raver2 APN 4 101096271 missense probably benign 0.00
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 On2012-04-20