Incidental Mutation 'R0470:Mbnl2'
ID 41818
Institutional Source Beutler Lab
Gene Symbol Mbnl2
Ensembl Gene ENSMUSG00000022139
Gene Name muscleblind like splicing factor 2
Synonyms 1110002M11Rik
MMRRC Submission 038670-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R0470 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 120513081-120669109 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120642062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 342 (H342L)
Ref Sequence ENSEMBL: ENSMUSP00000154559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088419] [ENSMUST00000167459] [ENSMUST00000226800] [ENSMUST00000227012] [ENSMUST00000227594]
AlphaFold Q8C181
Predicted Effect probably damaging
Transcript: ENSMUST00000088419
AA Change: H342L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085763
Gene: ENSMUSG00000022139
AA Change: H342L

DomainStartEndE-ValueType
ZnF_C3H1 14 40 4.01e-5 SMART
ZnF_C3H1 47 72 1.43e-1 SMART
low complexity region 89 104 N/A INTRINSIC
low complexity region 150 168 N/A INTRINSIC
ZnF_C3H1 176 203 3.09e-6 SMART
ZnF_C3H1 213 237 7.15e-2 SMART
low complexity region 238 265 N/A INTRINSIC
low complexity region 343 367 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167459
AA Change: H354L

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126186
Gene: ENSMUSG00000022139
AA Change: H354L

DomainStartEndE-ValueType
ZnF_C3H1 14 40 4.01e-5 SMART
ZnF_C3H1 47 72 1.43e-1 SMART
low complexity region 89 104 N/A INTRINSIC
low complexity region 150 168 N/A INTRINSIC
ZnF_C3H1 176 203 3.09e-6 SMART
ZnF_C3H1 213 237 7.15e-2 SMART
low complexity region 238 265 N/A INTRINSIC
low complexity region 325 349 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226800
AA Change: H324L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000227012
AA Change: H324L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227153
Predicted Effect probably damaging
Transcript: ENSMUST00000227594
AA Change: H342L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000228115
AA Change: H247L
Meta Mutation Damage Score 0.3902 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.0%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for one gene trap exhibit myotonia, lordosis and altered skeletal muscle fiber morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T G 19: 8,986,331 (GRCm39) D2538E probably benign Het
Akr1c13 T A 13: 4,248,500 (GRCm39) L235H probably damaging Het
Ank G A 15: 27,571,721 (GRCm39) C331Y probably damaging Het
Ankrd12 T C 17: 66,293,129 (GRCm39) E768G probably benign Het
Atm A T 9: 53,372,266 (GRCm39) V2172E probably damaging Het
Atp10b T A 11: 43,093,866 (GRCm39) L470Q possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Ccn4 A G 15: 66,789,227 (GRCm39) I238V probably benign Het
Cdadc1 A T 14: 59,811,290 (GRCm39) probably benign Het
Cfhr2 A T 1: 139,749,517 (GRCm39) V155E probably damaging Het
Chp1 C T 2: 119,391,244 (GRCm39) R34C probably damaging Het
Cilp2 A T 8: 70,338,055 (GRCm39) V192E possibly damaging Het
Cyth1 T C 11: 118,023,074 (GRCm39) probably benign Het
Dnah8 T A 17: 30,927,514 (GRCm39) probably benign Het
Gja3 T C 14: 57,273,884 (GRCm39) T163A probably damaging Het
Gsdmcl1 C T 15: 63,722,280 (GRCm39) noncoding transcript Het
Herc6 C T 6: 57,596,437 (GRCm39) T459M probably damaging Het
Hexb A G 13: 97,314,507 (GRCm39) L412P probably damaging Het
Il17ra T G 6: 120,458,767 (GRCm39) D639E probably benign Het
Kcnh5 G A 12: 75,161,188 (GRCm39) T240I probably benign Het
Lef1 T C 3: 130,906,475 (GRCm39) probably benign Het
Lilrb4a T A 10: 51,370,923 (GRCm39) N282K possibly damaging Het
Minar2 C T 18: 59,208,711 (GRCm39) R120C probably damaging Het
Nipal3 A G 4: 135,174,683 (GRCm39) V356A probably damaging Het
Or2a54 C G 6: 43,093,558 (GRCm39) A294G probably null Het
Or51i1 A T 7: 103,670,877 (GRCm39) I216N probably damaging Het
Plekha6 G A 1: 133,200,045 (GRCm39) R208Q probably benign Het
Prkar1b A G 5: 139,036,504 (GRCm39) I82T probably damaging Het
Prrc1 C T 18: 57,496,469 (GRCm39) T140M probably damaging Het
Psg22 A C 7: 18,453,589 (GRCm39) S95R probably damaging Het
Ptk6 T C 2: 180,837,732 (GRCm39) T396A probably benign Het
Ptov1 A G 7: 44,514,235 (GRCm39) S9P probably damaging Het
Scin A C 12: 40,123,291 (GRCm39) probably benign Het
Sec13 T C 6: 113,717,593 (GRCm39) probably benign Het
Setd1a G A 7: 127,384,229 (GRCm39) probably benign Het
Sf3a2 G A 10: 80,640,388 (GRCm39) probably benign Het
Shmt1 T C 11: 60,683,789 (GRCm39) Y341C possibly damaging Het
Slc27a4 T A 2: 29,694,197 (GRCm39) L7Q probably benign Het
Slc41a2 T C 10: 83,152,086 (GRCm39) M130V possibly damaging Het
Sorcs3 T C 19: 48,785,956 (GRCm39) probably null Het
Tex24 C T 8: 27,834,936 (GRCm39) R155* probably null Het
Tgfb1 T A 7: 25,387,355 (GRCm39) probably benign Het
Tmc5 A G 7: 118,239,154 (GRCm39) D349G possibly damaging Het
Trappc13 C T 13: 104,297,512 (GRCm39) V131I possibly damaging Het
Trim66 A G 7: 109,056,749 (GRCm39) probably benign Het
Tspoap1 T C 11: 87,666,988 (GRCm39) S1027P probably damaging Het
Usp34 C T 11: 23,386,001 (GRCm39) H2143Y possibly damaging Het
Vmn1r179 A C 7: 23,627,818 (GRCm39) Y3S probably benign Het
Vmn1r231 G A 17: 21,110,265 (GRCm39) Q217* probably null Het
Vmn1r62 T A 7: 5,679,066 (GRCm39) L249* probably null Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r109 T C 17: 20,773,148 (GRCm39) Q491R probably benign Het
Vwf G A 6: 125,605,391 (GRCm39) V925M possibly damaging Het
Zbtb6 A C 2: 37,319,505 (GRCm39) L141W probably damaging Het
Zranb1 G T 7: 132,584,500 (GRCm39) L615F probably damaging Het
Other mutations in Mbnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Mbnl2 APN 14 120,562,682 (GRCm39) missense probably damaging 1.00
IGL02303:Mbnl2 APN 14 120,642,059 (GRCm39) missense probably benign 0.28
IGL03225:Mbnl2 APN 14 120,622,875 (GRCm39) missense probably benign 0.04
IGL03268:Mbnl2 APN 14 120,616,569 (GRCm39) missense probably damaging 1.00
R0193:Mbnl2 UTSW 14 120,616,649 (GRCm39) missense possibly damaging 0.94
R0423:Mbnl2 UTSW 14 120,562,736 (GRCm39) missense probably damaging 1.00
R1749:Mbnl2 UTSW 14 120,626,462 (GRCm39) missense probably damaging 1.00
R4041:Mbnl2 UTSW 14 120,626,486 (GRCm39) missense probably damaging 1.00
R6190:Mbnl2 UTSW 14 120,622,833 (GRCm39) missense probably benign 0.01
R7346:Mbnl2 UTSW 14 120,616,694 (GRCm39) missense probably benign 0.00
R8928:Mbnl2 UTSW 14 120,633,974 (GRCm39) missense probably benign
R9036:Mbnl2 UTSW 14 120,562,712 (GRCm39) missense probably benign 0.38
R9302:Mbnl2 UTSW 14 120,622,950 (GRCm39) missense probably benign 0.00
X0018:Mbnl2 UTSW 14 120,642,101 (GRCm39) missense probably damaging 1.00
Z1176:Mbnl2 UTSW 14 120,640,771 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTTTGGGCTCTCTGGGAATCACTG -3'
(R):5'- GGTAACTCACAAACCACCGGGTAAG -3'

Sequencing Primer
(F):5'- CACTGATTGTGTTTGAGAACTTCC -3'
(R):5'- AAACCTGATTGGCTGTGGCT -3'
Posted On 2013-05-23