Incidental Mutation 'R0382:Rbm45'
ID 65472
Institutional Source Beutler Lab
Gene Symbol Rbm45
Ensembl Gene ENSMUSG00000042369
Gene Name RNA binding motif protein 45
Synonyms G430095G15Rik, Drb1, Drbp1
MMRRC Submission 038588-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R0382 (G1)
Quality Score 95
Status Validated
Chromosome 2
Chromosomal Location 76200328-76214112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76200555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 28 (I28N)
Ref Sequence ENSEMBL: ENSMUSP00000040420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046389]
AlphaFold Q8BHN5
Predicted Effect possibly damaging
Transcript: ENSMUST00000046389
AA Change: I28N

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040420
Gene: ENSMUSG00000042369
AA Change: I28N

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 0.4834 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency 98% (58/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 A T 6: 86,923,901 (GRCm39) Q266L probably benign Het
Abca13 T C 11: 9,586,650 (GRCm39) probably benign Het
Adap2 T C 11: 80,069,211 (GRCm39) probably benign Het
Adgrb2 C G 4: 129,901,624 (GRCm39) P416R probably damaging Het
Brinp1 T C 4: 68,680,545 (GRCm39) R662G possibly damaging Het
Celsr3 C A 9: 108,706,417 (GRCm39) P967T probably damaging Het
Ces1b T C 8: 93,802,680 (GRCm39) probably benign Het
Ckm T C 7: 19,155,309 (GRCm39) *382Q probably null Het
Clec14a A G 12: 58,315,403 (GRCm39) V73A probably damaging Het
Cmya5 A T 13: 93,229,256 (GRCm39) V1944E probably benign Het
Col6a6 T A 9: 105,632,754 (GRCm39) D1473V probably damaging Het
Cttnbp2 A G 6: 18,435,342 (GRCm39) M172T probably benign Het
Dcaf12 T C 4: 41,302,672 (GRCm39) N161S probably damaging Het
Dnah17 T C 11: 118,019,822 (GRCm39) Y75C probably damaging Het
Efcab7 T C 4: 99,758,966 (GRCm39) V388A possibly damaging Het
Fat3 A G 9: 15,871,052 (GRCm39) C3780R probably damaging Het
Fbxl14 T C 6: 119,458,021 (GRCm39) *401R probably null Het
Fbxo5 G T 10: 5,751,176 (GRCm39) Y270* probably null Het
Fnbp1l A T 3: 122,364,602 (GRCm39) probably benign Het
Fstl3 T C 10: 79,613,141 (GRCm39) S3P probably benign Het
Gpatch1 T C 7: 35,001,080 (GRCm39) D309G probably damaging Het
Gstcd A T 3: 132,692,169 (GRCm39) L582H probably damaging Het
Klk6 A G 7: 43,478,669 (GRCm39) D192G probably benign Het
Lrp6 A G 6: 134,444,631 (GRCm39) S1080P probably damaging Het
Lztfl1 T C 9: 123,536,971 (GRCm39) probably null Het
Mov10l1 A G 15: 88,869,796 (GRCm39) Y59C possibly damaging Het
Natd1 C T 11: 60,797,739 (GRCm39) R62H probably damaging Het
Obscn T C 11: 58,931,132 (GRCm39) T5835A probably damaging Het
Or4c31 A T 2: 88,292,069 (GRCm39) R147S possibly damaging Het
Or5j3 A G 2: 86,128,937 (GRCm39) Y259C probably damaging Het
Or6c66b T C 10: 129,376,883 (GRCm39) I159T probably benign Het
Or7a38 T A 10: 78,752,960 (GRCm39) Y95* probably null Het
P2rx2 T A 5: 110,489,045 (GRCm39) E289V probably benign Het
Patl1 T A 19: 11,902,596 (GRCm39) probably null Het
Ptprf A G 4: 118,080,591 (GRCm39) probably benign Het
Qrfpr C T 3: 36,235,118 (GRCm39) C253Y possibly damaging Het
Rad21l A T 2: 151,487,363 (GRCm39) D540E probably damaging Het
Rnf170 A T 8: 26,615,927 (GRCm39) probably benign Het
Sgsm3 G A 15: 80,892,515 (GRCm39) W280* probably null Het
Slc9a9 A T 9: 94,567,270 (GRCm39) H113L probably benign Het
Slc9b2 G T 3: 135,024,183 (GRCm39) C78F probably damaging Het
Slfn10-ps T A 11: 82,920,360 (GRCm39) noncoding transcript Het
Slfn8 T A 11: 82,895,382 (GRCm39) I475F probably damaging Het
Stox2 A G 8: 47,656,319 (GRCm39) probably benign Het
Strbp A T 2: 37,490,838 (GRCm39) N472K probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tmem39a A G 16: 38,411,760 (GRCm39) probably benign Het
Trpc4ap A G 2: 155,478,150 (GRCm39) L664P probably damaging Het
Uap1 T A 1: 169,989,051 (GRCm39) M124L probably benign Het
Usp48 A G 4: 137,348,529 (GRCm39) N536S probably benign Het
Usp50 T A 2: 126,619,848 (GRCm39) I155F probably damaging Het
Utp4 T C 8: 107,649,567 (GRCm39) I672T probably benign Het
Vmn1r94 A T 7: 19,901,578 (GRCm39) M242K possibly damaging Het
Vmn2r45 T G 7: 8,486,098 (GRCm39) N397H probably benign Het
Vmn2r9 T C 5: 108,995,463 (GRCm39) Y395C probably damaging Het
Vps41 C A 13: 19,011,897 (GRCm39) H335N 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
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
R3886:Rbm45 UTSW 2 76,205,768 (GRCm39) missense probably benign
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'- AGATTGCTGAGTCCACCGTGGC -3'
(R):5'- TGTTCCCAGGGTAAGAGGCTCC -3'

Sequencing Primer
(F):5'- AAGCGGAGCTGCTTACC -3'
(R):5'- AGGCACTGTCCGTGCATC -3'
Posted On 2013-08-08