Incidental Mutation 'R4166:Msi2'
ID 320594
Institutional Source Beutler Lab
Gene Symbol Msi2
Ensembl Gene ENSMUSG00000069769
Gene Name musashi RNA-binding protein 2
Synonyms Musashi2, msi2h
MMRRC Submission 041639-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4166 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 88230208-88609197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88237914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 346 (H346R)
Ref Sequence ENSEMBL: ENSMUSP00000090470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092794] [ENSMUST00000107909]
AlphaFold Q920Q6
Predicted Effect probably benign
Transcript: ENSMUST00000092794
AA Change: H346R

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000090470
Gene: ENSMUSG00000069769
AA Change: H346R

DomainStartEndE-ValueType
RRM 22 94 3.53e-24 SMART
RRM 111 183 1.62e-23 SMART
low complexity region 241 260 N/A INTRINSIC
low complexity region 275 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107909
AA Change: H328R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103542
Gene: ENSMUSG00000069769
AA Change: H328R

DomainStartEndE-ValueType
RRM 22 94 3.53e-24 SMART
RRM 111 183 1.62e-23 SMART
low complexity region 241 260 N/A INTRINSIC
Meta Mutation Damage Score 0.1626 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that is a member of the Musashi protein family. The encoded protein is transcriptional regulator that targets genes involved in development and cell cycle regulation. Mutations in this gene are associated with poor prognosis in certain types of cancers. This gene has also been shown to be rearranged in certain cancer cells. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit lethality, decreased body size, and decreased hematopoietic stem cells. Mice homozygous for a conditional knock-out allele exhibit impaired hematopoietic stem cell physiology upon induction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,382,912 (GRCm39) T1018A possibly damaging Het
Aak1 T A 6: 86,827,044 (GRCm39) F4I probably damaging Het
Adamts8 G T 9: 30,862,684 (GRCm39) E296D probably benign Het
Ankrd35 T A 3: 96,586,471 (GRCm39) probably null Het
Arhgap20 G A 9: 51,738,135 (GRCm39) probably null Het
Bhmt T A 13: 93,762,007 (GRCm39) probably benign Het
Cacna1b C A 2: 24,567,923 (GRCm39) R1055L probably benign Het
Cdk5r1 A G 11: 80,369,035 (GRCm39) Y234C probably damaging Het
Cdx2 G T 5: 147,243,539 (GRCm39) A85D possibly damaging Het
Cenpe G A 3: 134,949,479 (GRCm39) G88D probably damaging Het
Cfap300 A T 9: 8,026,071 (GRCm39) L167Q probably damaging Het
Dennd5a A C 7: 109,526,032 (GRCm39) probably null Het
Erich6 G A 3: 58,526,229 (GRCm39) A591V probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fbln5 A G 12: 101,723,618 (GRCm39) V374A probably damaging Het
Fmn1 G A 2: 113,467,080 (GRCm39) S1327N probably benign Het
Fnip2 A T 3: 79,369,442 (GRCm39) V1081E probably damaging Het
Gm5174 A G 10: 86,492,797 (GRCm39) noncoding transcript Het
Gpaa1 A C 15: 76,216,667 (GRCm39) probably benign Het
Grina T A 15: 76,133,529 (GRCm39) L334Q probably damaging Het
Gulp1 T A 1: 44,747,829 (GRCm39) Y27* probably null Het
Kdm3b A T 18: 34,928,797 (GRCm39) I183F probably benign Het
Loxhd1 A T 18: 77,460,025 (GRCm39) I758F probably damaging Het
Naip6 T A 13: 100,452,657 (GRCm39) I135F probably benign Het
Npr3 T G 15: 11,848,599 (GRCm39) E202A probably benign Het
Nsun4 A T 4: 115,891,248 (GRCm39) L377Q probably damaging Het
Oog2 A C 4: 143,921,411 (GRCm39) H107P probably damaging Het
Or14c40 C A 7: 86,313,602 (GRCm39) T244N probably damaging Het
Otof A G 5: 30,539,762 (GRCm39) L1032P probably damaging Het
Pcdh9 T A 14: 94,124,956 (GRCm39) R405* probably null Het
Pcdhb19 T A 18: 37,632,243 (GRCm39) N679K probably benign Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Prol1 A T 5: 88,476,530 (GRCm39) I307F unknown Het
Pycr1 T C 11: 120,532,949 (GRCm39) I104V probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rb1cc1 T C 1: 6,335,887 (GRCm39) probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Skint3 A G 4: 112,112,832 (GRCm39) I147M possibly damaging Het
Slc22a14 T G 9: 119,007,498 (GRCm39) M304L probably benign Het
Slc22a14 T C 9: 119,008,934 (GRCm39) N178S possibly damaging Het
Slc2a1 T G 4: 118,990,313 (GRCm39) I179S probably damaging Het
Slco2b1 G T 7: 99,309,333 (GRCm39) T666N probably benign Het
Smap1 T C 1: 23,887,506 (GRCm39) M258V probably benign Het
Smr3a A T 5: 88,156,013 (GRCm39) probably benign Het
Stt3b T A 9: 115,083,969 (GRCm39) E402D probably damaging Het
Sync T C 4: 129,200,535 (GRCm39) probably benign Het
Tbx20 T A 9: 24,681,040 (GRCm39) I151F probably damaging Het
Tomm22 C A 15: 79,555,206 (GRCm39) probably benign Het
Trank1 C A 9: 111,202,592 (GRCm39) Y1652* probably null Het
Trim34a T A 7: 103,910,223 (GRCm39) C342S probably benign Het
Txnl4a T A 18: 80,265,471 (GRCm39) M112K probably benign Het
Zfp146 A G 7: 29,861,865 (GRCm39) V59A possibly damaging Het
Other mutations in Msi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Mikimoto UTSW 11 88,257,610 (GRCm39) critical splice donor site probably null
Mixmaster UTSW 11 88,607,406 (GRCm39) missense probably damaging 1.00
miyamoto UTSW 11 88,607,406 (GRCm39) missense probably damaging 1.00
P0027:Msi2 UTSW 11 88,285,423 (GRCm39) missense probably damaging 1.00
R1366:Msi2 UTSW 11 88,607,406 (GRCm39) missense probably damaging 1.00
R2208:Msi2 UTSW 11 88,480,934 (GRCm39) missense probably damaging 1.00
R2414:Msi2 UTSW 11 88,607,373 (GRCm39) missense probably damaging 1.00
R4151:Msi2 UTSW 11 88,608,870 (GRCm39) missense probably damaging 1.00
R4494:Msi2 UTSW 11 88,608,185 (GRCm39) missense possibly damaging 0.91
R4647:Msi2 UTSW 11 88,608,864 (GRCm39) missense possibly damaging 0.83
R4952:Msi2 UTSW 11 88,257,610 (GRCm39) critical splice donor site probably null
R4975:Msi2 UTSW 11 88,285,481 (GRCm39) missense probably damaging 1.00
R5441:Msi2 UTSW 11 88,608,921 (GRCm39) intron probably benign
R5441:Msi2 UTSW 11 88,370,818 (GRCm39) splice site probably benign
R5715:Msi2 UTSW 11 88,276,889 (GRCm39) missense probably damaging 1.00
R5768:Msi2 UTSW 11 88,608,564 (GRCm39) missense probably damaging 1.00
R7297:Msi2 UTSW 11 88,370,864 (GRCm39) missense probably damaging 0.97
R7505:Msi2 UTSW 11 88,304,743 (GRCm39) missense possibly damaging 0.89
R9157:Msi2 UTSW 11 88,608,889 (GRCm39) missense probably benign 0.04
T0722:Msi2 UTSW 11 88,285,423 (GRCm39) missense probably damaging 1.00
Z1176:Msi2 UTSW 11 88,239,618 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGCCATGATTAAAAGCCGGAG -3'
(R):5'- CACGGTGTCTCAGAATTACATATTC -3'

Sequencing Primer
(F):5'- ATTTTTGATCCCTCTTCCTTTGAAAG -3'
(R):5'- TATTCATGCTGGCAACCATCAACTG -3'
Posted On 2015-06-12