Incidental Mutation 'R5494:Rbms2'
ID 432246
Institutional Source Beutler Lab
Gene Symbol Rbms2
Ensembl Gene ENSMUSG00000040043
Gene Name RNA binding motif, single stranded interacting protein 2
Synonyms Scr3, 2610315E04Rik
MMRRC Submission 043055-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R5494 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 127967427-128016166 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127973560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 252 (T252N)
Ref Sequence ENSEMBL: ENSMUSP00000089664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092033] [ENSMUST00000099139]
AlphaFold Q8VC70
Predicted Effect probably damaging
Transcript: ENSMUST00000092033
AA Change: T252N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089664
Gene: ENSMUSG00000040043
AA Change: T252N

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
RRM 59 127 3.35e-16 SMART
RRM 138 209 1.94e-12 SMART
low complexity region 347 359 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099139
AA Change: T224N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096742
Gene: ENSMUSG00000040043
AA Change: T224N

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
RRM 31 99 3.35e-16 SMART
RRM 110 181 1.94e-12 SMART
low complexity region 319 331 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218884
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.3%
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 is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. The RBMS proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. This protein was isolated by phenotypic complementation of cdc2 and cdc13 mutants of yeast and is thought to suppress cdc2 and cdc13 mutants through the induction of translation of cdc2. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 A G 10: 41,223,165 (GRCm39) E436G probably damaging Het
Aldh18a1 C T 19: 40,539,734 (GRCm39) R747Q probably damaging Het
Apob A G 12: 8,061,762 (GRCm39) N3415D probably damaging Het
Asb18 T C 1: 89,882,121 (GRCm39) E139G probably damaging Het
Atrn T C 2: 130,864,995 (GRCm39) L1374P probably damaging Het
Ccdc81 A G 7: 89,526,781 (GRCm39) S410P probably damaging Het
Cep112 A G 11: 108,555,431 (GRCm39) E809G probably damaging Het
Dctn1 G T 6: 83,159,546 (GRCm39) R8L possibly damaging Het
Ddn C A 15: 98,704,884 (GRCm39) R82L probably damaging Het
Dgkz A T 2: 91,771,394 (GRCm39) probably null Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Frem1 T C 4: 82,858,990 (GRCm39) *415W probably null Het
Fry A T 5: 150,314,132 (GRCm39) D789V probably damaging Het
Fzr1 C T 10: 81,207,178 (GRCm39) probably null Het
Gemin5 T A 11: 58,021,526 (GRCm39) Y1025F probably damaging Het
Gjb5 C T 4: 127,249,347 (GRCm39) V266M probably damaging Het
Gli3 A T 13: 15,900,567 (GRCm39) Q1318L probably benign Het
Golgb1 T A 16: 36,749,045 (GRCm39) N3056K possibly damaging Het
Gucy1b1 T A 3: 81,947,183 (GRCm39) D342V probably damaging Het
H1f9 T C 11: 94,858,843 (GRCm39) L46S probably benign Het
Hc A T 2: 34,893,551 (GRCm39) probably null Het
Heg1 A G 16: 33,545,804 (GRCm39) D185G probably benign Het
Igf2r A T 17: 12,912,032 (GRCm39) M1865K possibly damaging Het
Il27 A G 7: 126,192,100 (GRCm39) L12P probably damaging Het
Krt1 C T 15: 101,759,149 (GRCm39) C5Y unknown Het
Med25 C T 7: 44,535,225 (GRCm39) V170M probably damaging Het
Mgat4a T A 1: 37,493,898 (GRCm39) Y316F probably damaging Het
Oas3 A G 5: 120,899,709 (GRCm39) V725A unknown Het
Or52ac1 C A 7: 104,245,932 (GRCm39) G152V probably damaging Het
Or5w16 T C 2: 87,576,950 (GRCm39) S137P probably damaging Het
Pcdhb17 T C 18: 37,620,300 (GRCm39) S697P probably damaging Het
Plch2 T C 4: 155,075,579 (GRCm39) Y751C probably damaging Het
Rbpjl GCC GC 2: 164,256,330 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Scfd1 A G 12: 51,443,522 (GRCm39) probably null Het
Shank3 C T 15: 89,432,441 (GRCm39) T1062M probably damaging Het
Slc28a1 G A 7: 80,817,787 (GRCm39) G552E probably damaging Het
Sntn A G 14: 13,682,214 (GRCm38) R96G probably benign Het
Tas2r102 T C 6: 132,740,106 (GRCm39) V338A probably benign Het
Trim62 A T 4: 128,778,999 (GRCm39) N145Y possibly damaging Het
Tspoap1 C T 11: 87,666,031 (GRCm39) T863I possibly damaging Het
Ubr5 C T 15: 38,019,525 (GRCm39) C739Y possibly damaging Het
Vps13c G A 9: 67,855,428 (GRCm39) V2498I probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Rbms2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02573:Rbms2 APN 10 127,979,309 (GRCm39) missense probably damaging 1.00
IGL03331:Rbms2 APN 10 127,969,504 (GRCm39) unclassified probably benign
Salvatore UTSW 10 127,979,315 (GRCm39) missense probably damaging 0.99
R0143:Rbms2 UTSW 10 127,973,823 (GRCm39) missense probably benign 0.17
R0458:Rbms2 UTSW 10 127,987,058 (GRCm39) missense probably damaging 1.00
R0494:Rbms2 UTSW 10 127,969,539 (GRCm39) missense probably benign 0.00
R1348:Rbms2 UTSW 10 128,012,214 (GRCm39) splice site probably null
R1809:Rbms2 UTSW 10 127,974,055 (GRCm39) missense possibly damaging 0.91
R2059:Rbms2 UTSW 10 127,973,387 (GRCm39) missense probably benign 0.00
R3709:Rbms2 UTSW 10 127,979,312 (GRCm39) missense probably damaging 1.00
R3710:Rbms2 UTSW 10 127,979,312 (GRCm39) missense probably damaging 1.00
R4001:Rbms2 UTSW 10 127,987,169 (GRCm39) missense probably benign 0.03
R5316:Rbms2 UTSW 10 127,981,606 (GRCm39) missense probably damaging 0.98
R5895:Rbms2 UTSW 10 127,981,556 (GRCm39) missense possibly damaging 0.95
R6306:Rbms2 UTSW 10 127,987,050 (GRCm39) critical splice donor site probably null
R7779:Rbms2 UTSW 10 127,979,315 (GRCm39) missense probably damaging 0.99
R9094:Rbms2 UTSW 10 127,987,107 (GRCm39) missense probably damaging 1.00
Z1176:Rbms2 UTSW 10 127,973,857 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CAGATTGAGCAAGCATCCTGC -3'
(R):5'- CAAATTTGCTGACGGTGGGC -3'

Sequencing Primer
(F):5'- ATCCTGCTGTGGGCGATAC -3'
(R):5'- CCCTGAGAGCATTAGAGTTGG -3'
Posted On 2016-10-05