Incidental Mutation 'IGL01363:Raver2'
ID 75847
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Raver2
Ensembl Gene ENSMUSG00000035275
Gene Name ribonucleoprotein, PTB-binding 2
Synonyms A430091O22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL01363
Quality Score
Status
Chromosome 4
Chromosomal Location 100926235-101009567 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 100977780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038463] [ENSMUST00000106955]
AlphaFold Q7TPD6
Predicted Effect probably benign
Transcript: ENSMUST00000038463
SMART Domains Protein: ENSMUSP00000043142
Gene: ENSMUSG00000035275

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
SMART Domains Protein: ENSMUSP00000102568
Gene: ENSMUSG00000035275

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,483 (GRCm39) F23S probably damaging Het
Abcg3 A G 5: 105,096,228 (GRCm39) V528A possibly damaging Het
Adgrv1 A G 13: 81,705,184 (GRCm39) V1542A probably damaging Het
Alkbh3 A G 2: 93,833,396 (GRCm39) probably null Het
Ang4 G T 14: 52,001,636 (GRCm39) T104K probably benign Het
Arhgef3 T A 14: 27,123,876 (GRCm39) C532* probably null Het
Bnip3 G A 7: 138,499,777 (GRCm39) T70I probably benign Het
Cast T C 13: 74,852,311 (GRCm39) E644G possibly damaging Het
Cenpc1 A T 5: 86,194,390 (GRCm39) C125* probably null Het
Crb2 C A 2: 37,683,845 (GRCm39) R1116S probably benign Het
Cyp2c67 T G 19: 39,628,411 (GRCm39) I178L probably damaging Het
Cyp2c68 T A 19: 39,691,871 (GRCm39) M351L probably benign Het
Dusp1 G A 17: 26,725,264 (GRCm39) P365L probably damaging Het
Gatb T C 3: 85,559,652 (GRCm39) L492P probably damaging Het
Igkv8-19 T C 6: 70,318,083 (GRCm39) S48G probably damaging Het
Isyna1 G A 8: 71,047,372 (GRCm39) V32I probably damaging Het
Itgb6 T A 2: 60,441,726 (GRCm39) N695Y possibly damaging Het
Klra8 T C 6: 130,092,561 (GRCm39) T247A probably benign Het
Mak G A 13: 41,206,853 (GRCm39) probably benign Het
Minar2 G A 18: 59,205,380 (GRCm39) G98D probably damaging Het
Mndal T A 1: 173,685,022 (GRCm39) T516S possibly damaging Het
Mphosph9 G T 5: 124,400,084 (GRCm39) T939K probably damaging Het
Nfrkb A G 9: 31,325,667 (GRCm39) T1037A possibly damaging Het
Or2m13 C T 16: 19,226,333 (GRCm39) M145I probably benign Het
Or8c9 A G 9: 38,240,999 (GRCm39) T39A probably benign Het
Pard3b A G 1: 62,676,799 (GRCm39) Y1011C probably damaging Het
Parm1 G A 5: 91,760,877 (GRCm39) V250M probably damaging Het
Pgap2 T G 7: 101,875,489 (GRCm39) M1R probably null Het
Phlpp2 T C 8: 110,663,729 (GRCm39) F923L probably benign Het
Polr1a T A 6: 71,925,470 (GRCm39) M739K probably benign Het
Pramel1 A G 4: 143,123,955 (GRCm39) Y210C probably benign Het
Pramel27 A T 4: 143,579,846 (GRCm39) Y477F probably benign Het
Rb1cc1 C T 1: 6,320,333 (GRCm39) L1251F probably benign Het
Ros1 T A 10: 52,042,238 (GRCm39) Y238F probably damaging Het
Shroom3 T C 5: 93,088,852 (GRCm39) L534P probably benign Het
Tjp1 A T 7: 64,952,713 (GRCm39) F1540L possibly damaging Het
Tmem200b C A 4: 131,649,704 (GRCm39) P208Q probably benign Het
Tmem236 T C 2: 14,179,441 (GRCm39) L14P probably damaging Het
Tubgcp6 A T 15: 88,991,728 (GRCm39) I623N probably damaging Het
Vmn1r119 C T 7: 20,746,056 (GRCm39) V109I probably benign Het
Vmn2r98 A G 17: 19,286,020 (GRCm39) N173D probably benign Het
Other mutations in Raver2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Raver2 APN 4 100,960,065 (GRCm39) missense probably damaging 1.00
IGL00778:Raver2 APN 4 100,953,468 (GRCm39) missense probably benign 0.00
IGL02631:Raver2 APN 4 100,953,499 (GRCm39) missense probably damaging 0.96
R0071:Raver2 UTSW 4 100,977,642 (GRCm39) splice site probably benign
R0071:Raver2 UTSW 4 100,977,642 (GRCm39) splice site probably benign
R0792:Raver2 UTSW 4 100,960,147 (GRCm39) missense probably damaging 1.00
R1450:Raver2 UTSW 4 100,993,349 (GRCm39) missense possibly damaging 0.58
R2044:Raver2 UTSW 4 100,960,009 (GRCm39) missense probably damaging 1.00
R5127:Raver2 UTSW 4 100,960,182 (GRCm39) missense probably damaging 1.00
R5162:Raver2 UTSW 4 100,959,921 (GRCm39) missense probably damaging 1.00
R5342:Raver2 UTSW 4 100,959,889 (GRCm39) missense possibly damaging 0.47
R5557:Raver2 UTSW 4 100,993,336 (GRCm39) missense probably benign 0.04
R6190:Raver2 UTSW 4 100,990,814 (GRCm39) missense probably benign 0.00
R6248:Raver2 UTSW 4 100,991,320 (GRCm39) splice site probably null
R6449:Raver2 UTSW 4 100,990,869 (GRCm39) missense probably benign 0.41
R6640:Raver2 UTSW 4 100,988,500 (GRCm39) missense probably damaging 0.98
R6852:Raver2 UTSW 4 100,990,787 (GRCm39) missense probably benign 0.00
R7196:Raver2 UTSW 4 100,960,056 (GRCm39) missense probably damaging 1.00
R7449:Raver2 UTSW 4 100,959,860 (GRCm39) missense probably damaging 1.00
R7459:Raver2 UTSW 4 100,964,410 (GRCm39) missense possibly damaging 0.83
R8025:Raver2 UTSW 4 100,960,162 (GRCm39) nonsense probably null
R8843:Raver2 UTSW 4 100,994,942 (GRCm39) missense probably damaging 0.96
R8898:Raver2 UTSW 4 100,964,399 (GRCm39) critical splice acceptor site probably null
R9290:Raver2 UTSW 4 100,977,387 (GRCm39) intron probably benign
RF017:Raver2 UTSW 4 100,960,195 (GRCm39) missense probably damaging 0.99
Posted On 2013-10-07