Incidental Mutation 'R1749:Mbnl2'
ID 194226
Institutional Source Beutler Lab
Gene Symbol Mbnl2
Ensembl Gene ENSMUSG00000022139
Gene Name muscleblind like splicing factor 2
Synonyms 1110002M11Rik
MMRRC Submission 039781-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R1749 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 120513081-120669109 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120626462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 231 (C231S)
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: C231S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085763
Gene: ENSMUSG00000022139
AA Change: C231S

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: C231S

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126186
Gene: ENSMUSG00000022139
AA Change: C231S

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 noncoding transcript
Transcript: ENSMUST00000181685
Predicted Effect probably damaging
Transcript: ENSMUST00000226800
AA Change: C231S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227012
AA Change: C231S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227484
Predicted Effect probably damaging
Transcript: ENSMUST00000227594
AA Change: C231S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000228115
AA Change: C142S
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency
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
Ak5 A T 3: 152,178,557 (GRCm39) M486K probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Aspn A T 13: 49,705,261 (GRCm39) D41V probably benign Het
Atp8a2 C A 14: 60,097,623 (GRCm39) E802* probably null Het
Barhl2 T C 5: 106,605,572 (GRCm39) S46G unknown Het
Cacna1e A G 1: 154,319,746 (GRCm39) V1318A probably damaging Het
Ccdc69 T C 11: 54,941,979 (GRCm39) R176G probably null Het
Cdan1 T C 2: 120,560,280 (GRCm39) N321S probably damaging Het
Cep85l T C 10: 53,154,250 (GRCm39) D681G probably damaging Het
Cntrob A T 11: 69,213,700 (GRCm39) V30E probably damaging Het
Csmd3 C T 15: 47,449,056 (GRCm39) G3646E probably damaging Het
Cx3cl1 A G 8: 95,506,789 (GRCm39) probably null Het
Dab1 A T 4: 104,185,495 (GRCm39) probably benign Het
Dennd2c T C 3: 103,039,352 (GRCm39) S167P possibly damaging Het
Dock2 A G 11: 34,182,767 (GRCm39) probably null Het
Dok3 GCC GC 13: 55,672,168 (GRCm39) probably null Het
Ebf1 A T 11: 44,798,835 (GRCm39) I287L possibly damaging Het
Eci1 G A 17: 24,645,721 (GRCm39) probably null Het
Emb T A 13: 117,386,242 (GRCm39) I133N possibly damaging Het
Fam91a1 A G 15: 58,298,443 (GRCm39) I184V probably benign Het
Fbn2 T C 18: 58,183,348 (GRCm39) D1779G probably benign Het
Fgfr4 T A 13: 55,315,605 (GRCm39) probably null Het
Flt1 G A 5: 147,591,929 (GRCm39) T511M probably benign Het
Gys1 T C 7: 45,089,456 (GRCm39) L205P probably damaging Het
Hepacam2 A G 6: 3,483,379 (GRCm39) V134A probably damaging Het
Htr3a A G 9: 48,812,233 (GRCm39) V291A probably damaging Het
Ip6k3 T A 17: 27,364,053 (GRCm39) T332S probably benign Het
Klra6 A T 6: 129,995,915 (GRCm39) F148I probably damaging Het
Kntc1 T C 5: 123,927,162 (GRCm39) S1206P probably benign Het
Mdn1 A T 4: 32,773,952 (GRCm39) D5521V probably damaging Het
Mylip G A 13: 45,557,946 (GRCm39) V52M possibly damaging Het
Naip6 A G 13: 100,444,763 (GRCm39) S232P probably benign Het
Ndc80 T C 17: 71,808,550 (GRCm39) K504R probably benign Het
Nf2 T C 11: 4,753,694 (GRCm39) N220S possibly damaging Het
Nfasc T A 1: 132,539,370 (GRCm39) I393F probably damaging Het
Or12d2 T C 17: 37,624,952 (GRCm39) T108A probably benign Het
Pabpc1 T C 15: 36,608,584 (GRCm39) Y56C probably damaging Het
Pcca A G 14: 122,938,542 (GRCm39) K498R probably damaging Het
Phldb1 A G 9: 44,627,045 (GRCm39) S467P probably damaging Het
Ptprn2 T C 12: 116,544,048 (GRCm39) S47P probably benign Het
Rtca A T 3: 116,291,293 (GRCm39) I229N possibly damaging Het
Sh3rf2 T A 18: 42,286,359 (GRCm39) S617R probably damaging Het
Slc14a2 T G 18: 78,190,295 (GRCm39) T885P possibly damaging Het
Sp100 A C 1: 85,627,357 (GRCm39) T417P possibly damaging Het
Tat A T 8: 110,722,846 (GRCm39) N303Y probably damaging Het
Tet2 A G 3: 133,185,892 (GRCm39) probably null Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tnks1bp1 A G 2: 84,893,411 (GRCm39) S1113G probably benign Het
Tspear G A 10: 77,705,507 (GRCm39) E302K probably benign Het
Tulp3 A G 6: 128,314,722 (GRCm39) L23P probably damaging Het
Vti1b T C 12: 79,211,807 (GRCm39) E42G probably damaging Het
Yeats2 G T 16: 20,005,018 (GRCm39) E333* probably null Het
Zfp455 T G 13: 67,355,073 (GRCm39) C114G probably damaging Het
Zfp532 G A 18: 65,756,555 (GRCm39) V163M possibly damaging Het
Zfp940 A T 7: 29,544,952 (GRCm39) C318* probably null 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
R0470:Mbnl2 UTSW 14 120,642,062 (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'- CTTTCCCGTTATCTCAGGTATGCAGG -3'
(R):5'- GGCCCTAGACCCATGATCCTAGTAAG -3'

Sequencing Primer
(F):5'- AGACAGCACCATGATCGACA -3'
(R):5'- GGAATGGCAGCCTTGTCTC -3'
Posted On 2014-05-23