Incidental Mutation 'R0018:Rbpms2'
ID 8372
Institutional Source Beutler Lab
Gene Symbol Rbpms2
Ensembl Gene ENSMUSG00000032387
Gene Name RNA binding protein with multiple splicing 2
Synonyms 2400008B06Rik
MMRRC Submission 038313-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R0018 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 65629648-65660528 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65651078 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 142 (D142G)
Ref Sequence ENSEMBL: ENSMUSP00000149535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055844] [ENSMUST00000169003] [ENSMUST00000216342] [ENSMUST00000216382]
AlphaFold Q8VC52
Predicted Effect probably damaging
Transcript: ENSMUST00000055844
AA Change: D132G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057600
Gene: ENSMUSG00000032387
AA Change: D132G

DomainStartEndE-ValueType
RRM 26 98 7.84e-8 SMART
low complexity region 172 182 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169003
AA Change: D132G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131076
Gene: ENSMUSG00000032387
AA Change: D132G

DomainStartEndE-ValueType
RRM 26 98 7.84e-8 SMART
low complexity region 135 144 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213927
Predicted Effect probably damaging
Transcript: ENSMUST00000216342
AA Change: D142G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216382
AA Change: D160G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.6992 question?
Coding Region Coverage
  • 1x: 82.8%
  • 3x: 76.3%
  • 10x: 59.3%
  • 20x: 41.5%
Validation Efficiency 90% (80/89)
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 a member of the RNA recognition motif (RRM)-containing protein family and is involved in the development and dedifferentiation of digestive smooth muscle cells. The encoded protein functions as a homodimer and indirectly inhibits the bone morphogenetic protein pathway. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b4 T A 1: 133,717,871 I982F probably damaging Het
BC024139 G A 15: 76,120,887 Q592* probably null Het
Capn7 T A 14: 31,354,112 C290* probably null Het
Celsr1 T A 15: 86,031,042 D910V possibly damaging Het
Cpne2 T A 8: 94,556,053 C59S possibly damaging Het
Cyp2b13 G A 7: 26,085,950 R248H probably benign Het
Dennd1a T A 2: 37,858,460 T336S possibly damaging Het
Drc7 A G 8: 95,074,234 Y628C probably damaging Het
Dse A G 10: 34,153,468 V542A probably benign Het
Gria4 A G 9: 4,432,843 L780P possibly damaging Het
Gsx2 A G 5: 75,077,167 K260R probably damaging Het
Kat6a A G 8: 22,929,273 D684G possibly damaging Het
Kif27 T G 13: 58,288,053 I1309L probably benign Het
Me2 A T 18: 73,791,852 F265I possibly damaging Het
Myo9a A T 9: 59,871,724 T1588S probably benign Het
Neu4 T A 1: 94,025,338 D476E probably benign Het
Nlrp9c T A 7: 26,371,998 Q895L possibly damaging Het
Nudt8 C T 19: 4,001,152 probably benign Het
Ppfia2 A G 10: 106,842,786 probably benign Het
Prkdc T C 16: 15,726,542 Y1799H probably benign Het
Psmc1 T C 12: 100,116,692 probably benign Het
Pus3 A G 9: 35,566,624 D384G probably benign Het
Rasa2 A G 9: 96,571,963 S307P probably damaging Het
Slc13a5 T C 11: 72,266,475 I31V probably benign Het
Slc15a4 A T 5: 127,602,010 I422N probably damaging Het
Slc26a6 G T 9: 108,858,922 probably null Het
Ufm1 A T 3: 53,859,196 I79N probably benign Het
Xdh C T 17: 73,925,025 R230H probably benign Het
Zfp418 A T 7: 7,182,450 S471C probably benign Het
Other mutations in Rbpms2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0018:Rbpms2 UTSW 9 65651078 missense probably damaging 1.00
R0567:Rbpms2 UTSW 9 65651666 unclassified probably benign
R0568:Rbpms2 UTSW 9 65651666 unclassified probably benign
R0570:Rbpms2 UTSW 9 65659194 nonsense probably null
R0727:Rbpms2 UTSW 9 65651666 unclassified probably benign
R1374:Rbpms2 UTSW 9 65651666 unclassified probably benign
R1375:Rbpms2 UTSW 9 65651666 unclassified probably benign
R1377:Rbpms2 UTSW 9 65651666 unclassified probably benign
R1390:Rbpms2 UTSW 9 65651666 unclassified probably benign
R1412:Rbpms2 UTSW 9 65651666 unclassified probably benign
R1662:Rbpms2 UTSW 9 65651042 missense probably benign 0.05
R1710:Rbpms2 UTSW 9 65659212 splice site probably benign
R1714:Rbpms2 UTSW 9 65651665 unclassified probably benign
R1714:Rbpms2 UTSW 9 65651666 unclassified probably benign
R1715:Rbpms2 UTSW 9 65651666 unclassified probably benign
R1838:Rbpms2 UTSW 9 65651666 unclassified probably benign
R1838:Rbpms2 UTSW 9 65651680 unclassified probably benign
R1839:Rbpms2 UTSW 9 65651666 unclassified probably benign
R1882:Rbpms2 UTSW 9 65651666 unclassified probably benign
R2088:Rbpms2 UTSW 9 65630839 missense probably damaging 0.99
R2118:Rbpms2 UTSW 9 65650947 missense probably damaging 1.00
R2237:Rbpms2 UTSW 9 65651611 nonsense probably null
R4633:Rbpms2 UTSW 9 65651636 missense probably benign 0.02
R7249:Rbpms2 UTSW 9 65649350 missense probably damaging 1.00
R8277:Rbpms2 UTSW 9 65649413 missense probably damaging 1.00
R8445:Rbpms2 UTSW 9 65651021 missense possibly damaging 0.81
R8902:Rbpms2 UTSW 9 65651069 missense probably benign 0.39
Posted On 2012-11-27