Incidental Mutation 'R3886:Rbm45'
ID 309635
Institutional Source Beutler Lab
Gene Symbol Rbm45
Ensembl Gene ENSMUSG00000042369
Gene Name RNA binding motif protein 45
Synonyms G430095G15Rik, Drb1, Drbp1
MMRRC Submission 040798-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R3886 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 76200328-76214112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76205768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 207 (S207G)
Ref Sequence ENSEMBL: ENSMUSP00000040420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046389]
AlphaFold Q8BHN5
Predicted Effect probably benign
Transcript: ENSMUST00000046389
AA Change: S207G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040420
Gene: ENSMUSG00000042369
AA Change: S207G

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
RRM 27 102 2.08e-12 SMART
RRM 122 191 1.37e-12 SMART
RRM 249 320 2.27e-1 SMART
RRM 394 460 4.07e-6 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
Adam17 G A 12: 21,375,588 (GRCm39) R744C probably damaging Het
Adss2 A G 1: 177,595,335 (GRCm39) Y402H probably damaging Het
Ccdc73 A T 2: 104,821,688 (GRCm39) T546S possibly damaging Het
Cd22 T C 7: 30,569,532 (GRCm39) D354G possibly damaging Het
Chchd6 T C 6: 89,444,433 (GRCm39) E183G probably damaging Het
Col6a5 A G 9: 105,808,129 (GRCm39) L973P unknown Het
Cp T C 3: 20,043,275 (GRCm39) L1021P probably damaging Het
Cplane1 T A 15: 8,201,289 (GRCm39) V22E probably damaging Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
D630045J12Rik A G 6: 38,119,633 (GRCm39) V1703A possibly damaging Het
Dennd1a T C 2: 37,748,089 (GRCm39) N376S possibly damaging Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Ect2l C T 10: 18,044,206 (GRCm39) V310M probably damaging Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Gm8674 T C 13: 50,056,199 (GRCm39) noncoding transcript Het
Ice1 T C 13: 70,753,489 (GRCm39) T866A probably benign Het
Jade2 C T 11: 51,721,326 (GRCm39) V201I possibly damaging Het
Kcnb2 T C 1: 15,780,639 (GRCm39) S504P probably damaging Het
Kcng4 T C 8: 120,359,986 (GRCm39) K130R probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrch2 C G X: 146,256,003 (GRCm39) A437P probably damaging Het
Lrrk1 C T 7: 65,942,112 (GRCm39) V709I probably damaging Het
Mdh1 A G 11: 21,509,832 (GRCm39) V181A probably damaging Het
Or10g7 A G 9: 39,905,835 (GRCm39) H243R probably damaging Het
Or4a71 T A 2: 89,358,076 (GRCm39) H226L possibly damaging Het
Ppp1r3a A C 6: 14,719,911 (GRCm39) D334E possibly damaging Het
Pramel17 T C 4: 101,692,920 (GRCm39) K360R probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Relch A G 1: 105,619,938 (GRCm39) N331S probably benign Het
Robo3 G A 9: 37,333,477 (GRCm39) Q723* probably null Het
Rreb1 G A 13: 38,082,482 (GRCm39) probably null Het
Slc35f2 T A 9: 53,724,241 (GRCm39) S372T probably benign Het
Slitrk5 T A 14: 111,917,229 (GRCm39) C284* probably null Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Tent4b C A 8: 88,927,043 (GRCm39) A151E probably benign Het
Tnxb A G 17: 34,937,885 (GRCm39) D3896G probably damaging Het
Tti1 A G 2: 157,850,870 (GRCm39) V123A possibly damaging Het
Usp1 T C 4: 98,817,973 (GRCm39) C147R probably damaging Het
Vill A G 9: 118,895,782 (GRCm39) N106S probably benign Het
Other mutations in Rbm45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Rbm45 APN 2 76,209,051 (GRCm39) missense probably damaging 1.00
IGL03335:Rbm45 APN 2 76,206,777 (GRCm39) missense probably damaging 1.00
R0008:Rbm45 UTSW 2 76,208,742 (GRCm39) missense probably damaging 1.00
R0008:Rbm45 UTSW 2 76,208,742 (GRCm39) missense probably damaging 1.00
R0382:Rbm45 UTSW 2 76,200,555 (GRCm39) missense possibly damaging 0.92
R1468:Rbm45 UTSW 2 76,202,459 (GRCm39) missense probably damaging 1.00
R1468:Rbm45 UTSW 2 76,202,459 (GRCm39) missense probably damaging 1.00
R1533:Rbm45 UTSW 2 76,202,503 (GRCm39) critical splice donor site probably null
R1942:Rbm45 UTSW 2 76,205,823 (GRCm39) critical splice donor site probably null
R2046:Rbm45 UTSW 2 76,205,742 (GRCm39) missense probably benign
R2912:Rbm45 UTSW 2 76,205,798 (GRCm39) missense probably benign 0.05
R2913:Rbm45 UTSW 2 76,205,798 (GRCm39) missense probably benign 0.05
R2929:Rbm45 UTSW 2 76,208,763 (GRCm39) missense probably benign 0.00
R3418:Rbm45 UTSW 2 76,209,362 (GRCm39) missense probably damaging 1.00
R3887:Rbm45 UTSW 2 76,205,768 (GRCm39) missense probably benign
R3888:Rbm45 UTSW 2 76,205,768 (GRCm39) missense probably benign
R4488:Rbm45 UTSW 2 76,206,740 (GRCm39) missense probably damaging 0.99
R5369:Rbm45 UTSW 2 76,200,594 (GRCm39) missense probably damaging 1.00
R5990:Rbm45 UTSW 2 76,200,756 (GRCm39) missense probably benign 0.36
R6569:Rbm45 UTSW 2 76,209,416 (GRCm39) missense probably damaging 1.00
R6806:Rbm45 UTSW 2 76,210,804 (GRCm39) missense probably benign 0.19
R7022:Rbm45 UTSW 2 76,206,738 (GRCm39) missense probably damaging 1.00
R7832:Rbm45 UTSW 2 76,206,797 (GRCm39) missense possibly damaging 0.80
R8720:Rbm45 UTSW 2 76,210,711 (GRCm39) missense probably damaging 1.00
R8933:Rbm45 UTSW 2 76,209,068 (GRCm39) missense probably damaging 1.00
R9064:Rbm45 UTSW 2 76,202,446 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACCATGTAAATTCTGCCTTG -3'
(R):5'- TGTTAGAAGAACTGAGCAACTTCTC -3'

Sequencing Primer
(F):5'- CACCATGTAAATTCTGCCTTGTATGG -3'
(R):5'- CCCAGCAACATATCAGATTTTCATTC -3'
Posted On 2015-04-17