Mutagenetix > Incidental Mutation

Incidental Mutation 'R9302:Mbnl2'

705034

Institutional Source

Beutler Lab

Gene Symbol

Mbnl2

Ensembl Gene

ENSMUSG00000022139

Gene Name

muscleblind like splicing factor 2

Synonyms

1110002M11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R9302 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120513081-120669109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120622950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 163 (T163A)

Ref Sequence

ENSEMBL: ENSMUSP00000126186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088419] [ENSMUST00000167459] [ENSMUST00000226800] [ENSMUST00000227012] [ENSMUST00000227594]

AlphaFold

Q8C181

Predicted Effect

probably benign
Transcript: ENSMUST00000088419
AA Change: T163A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085763
Gene: ENSMUSG00000022139
AA Change: T163A

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000167459
AA Change: T163A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126186
Gene: ENSMUSG00000022139
AA Change: T163A

Domain	Start	End	E-Value	Type
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: T163A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227012
AA Change: T163A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227594
AA Change: T163A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (54/54)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	C	2: 156,392,956 (GRCm39)	L115P	probably damaging	Het
Acsl1	T	A	8: 46,983,470 (GRCm39)	D494E	probably damaging	Het
Adgrl1	T	C	8: 84,656,426 (GRCm39)	V243A	possibly damaging	Het
Ak9	A	T	10: 41,196,486 (GRCm39)	I103F		Het
Ank3	C	T	10: 69,761,849 (GRCm39)		probably benign	Het
Ano4	T	A	10: 88,831,220 (GRCm39)	I468L	probably benign	Het
Anxa2r1	A	G	13: 120,496,626 (GRCm39)	I81T	probably benign	Het
Arhgef10l	G	A	4: 140,242,548 (GRCm39)	S959L	probably benign	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cfap221	T	C	1: 119,853,365 (GRCm39)	I776M	probably benign	Het
Col3a1	C	T	1: 45,350,980 (GRCm39)	Q25*	probably null	Het
Crabp2	C	A	3: 87,859,833 (GRCm39)	L100I	probably benign	Het
Dnah5	A	G	15: 28,240,032 (GRCm39)	D463G	probably benign	Het
Dst	T	C	1: 34,264,636 (GRCm39)	L2602P	probably damaging	Het
Dusp1	A	G	17: 26,726,148 (GRCm39)	Y182H	probably damaging	Het
Fhip1a	C	A	3: 85,579,941 (GRCm39)	D755Y	probably damaging	Het
Fras1	T	A	5: 96,682,751 (GRCm39)	C83S	probably damaging	Het
Frrs1	G	T	3: 116,692,899 (GRCm39)		probably null	Het
Gcnt3	A	G	9: 69,942,529 (GRCm39)	L13P	possibly damaging	Het
Gm8094	T	C	14: 42,932,834 (GRCm39)	D88G	probably benign	Het
Hfe	C	T	13: 23,890,025 (GRCm39)	M249I	probably benign	Het
Hipk1	T	C	3: 103,685,099 (GRCm39)	E172G	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Ltb4r2	A	T	14: 55,999,733 (GRCm39)	Q118L	probably damaging	Het
Ltbp4	A	T	7: 27,008,481 (GRCm39)	C1342S	possibly damaging	Het
Lyst	A	G	13: 13,904,947 (GRCm39)	D3208G	possibly damaging	Het
Mre11a	T	A	9: 14,696,826 (GRCm39)		probably null	Het
Myo15b	A	G	11: 115,776,238 (GRCm39)	N610D	possibly damaging	Het
Nt5c1b	T	C	12: 10,430,882 (GRCm39)	S390P	probably damaging	Het
Or10ag53	T	A	2: 87,082,906 (GRCm39)	F208L	probably benign	Het
Pde3b	A	G	7: 114,122,621 (GRCm39)	T730A	probably damaging	Het
Pdzd2	G	T	15: 12,374,342 (GRCm39)	T1931N	possibly damaging	Het
Pla2g15	C	T	8: 106,877,201 (GRCm39)	A28V	probably benign	Het
Pmfbp1	A	T	8: 110,268,474 (GRCm39)	D1007V	probably damaging	Het
Polr1a	T	A	6: 71,901,683 (GRCm39)		probably null	Het
Ppp1r3a	T	C	6: 14,721,891 (GRCm39)	K312E	probably benign	Het
Prmt5	G	A	14: 54,749,583 (GRCm39)	T269I	probably benign	Het
Pwp2	A	G	10: 78,009,540 (GRCm39)	S793P	probably benign	Het
Rbm12b1	C	A	4: 12,146,181 (GRCm39)	H718N	probably benign	Het
Rfx1	T	A	8: 84,817,662 (GRCm39)	M512K	possibly damaging	Het
Rp1	T	C	1: 4,416,789 (GRCm39)	E1441G	probably damaging	Het
Slc16a6	C	T	11: 109,350,634 (GRCm39)	V207I	probably benign	Het
Slc6a9	G	A	4: 117,706,596 (GRCm39)	R7H	possibly damaging	Het
Sptlc1	A	T	13: 53,528,047 (GRCm39)	V39D	probably benign	Het
Strc	A	T	2: 121,211,336 (GRCm39)	L3Q	unknown	Het
Svep1	C	T	4: 58,120,565 (GRCm39)	E823K	possibly damaging	Het
Tat	A	G	8: 110,725,031 (GRCm39)		probably benign	Het
Thoc1	T	A	18: 9,968,800 (GRCm39)	N190K	possibly damaging	Het
Tomt	T	C	7: 101,549,826 (GRCm39)	E154G	probably damaging	Het
Topaz1	T	A	9: 122,617,887 (GRCm39)	V1228E	possibly damaging	Het
Trim55	G	A	3: 19,727,153 (GRCm39)	V407M	probably benign	Het
Ttll5	T	A	12: 85,873,338 (GRCm39)	M5K	possibly damaging	Het
Ugt2a2	A	C	5: 87,609,940 (GRCm39)	Y380*	probably null	Het
Usp46	A	G	5: 74,163,922 (GRCm39)	Y272H	probably benign	Het
Vps39	A	T	2: 120,151,525 (GRCm39)		probably benign	Het
Zfp12	T	A	5: 143,230,421 (GRCm39)	H281Q	probably damaging	Het
Zfp142	C	A	1: 74,606,302 (GRCm39)	R1756L	probably damaging	Het
Zmynd10	T	A	9: 107,426,516 (GRCm39)	I183K	possibly damaging	Het

Other mutations in Mbnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGTGGACACGTTTCTCTCAG -3'
(R):5'- GCGTGAATGTGGCCTTTCTC -3'

Sequencing Primer
(F):5'- AGTGGACACGTTTCTCTCAGATAGC -3'
(R):5'- AATGTGGCCTTTCTCTGCAAG -3'

Posted On

2022-03-25