Mutagenetix > Incidental Mutation

Incidental Mutation 'R8928:Mbnl2'

692990

Institutional Source

Beutler Lab

Gene Symbol

Mbnl2

Ensembl Gene

ENSMUSG00000022139

Gene Name

muscleblind like splicing factor 2

Synonyms

1110002M11Rik

MMRRC Submission

068772-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.423) question?

Stock #

R8928 (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 120633974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 324 (T324A)

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: T324A

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

SMART Domains

Protein: ENSMUSP00000085763
Gene: ENSMUSG00000022139
AA Change: T324A

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: T324A

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

SMART Domains

Protein: ENSMUSP00000126186
Gene: ENSMUSG00000022139
AA Change: T324A

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: T306A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227012
AA Change: T306A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227594
AA Change: T324A

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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

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
Ahctf1	C	A	1: 179,596,626 (GRCm39)	S1056I	possibly damaging	Het
Ajm1	A	G	2: 25,468,577 (GRCm39)	Y445H	possibly damaging	Het
Akap13	T	A	7: 75,259,606 (GRCm39)	D743E	probably benign	Het
Alas1	T	A	9: 106,118,513 (GRCm39)	H203L	probably benign	Het
Ankfn1	G	A	11: 89,429,279 (GRCm39)	T35I	possibly damaging	Het
Ankrd11	C	T	8: 123,622,718 (GRCm39)	R378K	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Cabp7	T	A	11: 4,696,640 (GRCm39)	I30F	possibly damaging	Het
Ccdc113	T	C	8: 96,267,584 (GRCm39)		probably null	Het
Ccdc162	T	A	10: 41,462,245 (GRCm39)		probably benign	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cep85	G	T	4: 133,859,715 (GRCm39)	H651Q	probably benign	Het
Cfap43	T	A	19: 47,804,399 (GRCm39)	I266L	probably benign	Het
Crybg3	T	C	16: 59,315,123 (GRCm39)	T1179A	probably benign	Het
Crybg3	A	G	16: 59,376,715 (GRCm39)	V1513A	probably benign	Het
Csmd2	G	T	4: 128,369,582 (GRCm39)	V1905L		Het
D630003M21Rik	T	C	2: 158,059,447 (GRCm39)	E151G	probably damaging	Het
Dnah10	A	T	5: 124,866,828 (GRCm39)	Y2306F	probably damaging	Het
Dpy19l4	A	T	4: 11,304,674 (GRCm39)		probably benign	Het
Dsc1	G	T	18: 20,243,225 (GRCm39)	T76K	probably benign	Het
Egfem1	A	C	3: 29,744,561 (GRCm39)	*591C	probably null	Het
Elapor2	T	A	5: 9,496,979 (GRCm39)	H814Q	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fn1	T	C	1: 71,641,777 (GRCm39)		probably benign	Het
Fsd2	T	C	7: 81,209,354 (GRCm39)	T163A	probably benign	Het
Gm45844	A	G	7: 7,281,094 (GRCm39)		probably benign	Het
Grid1	T	A	14: 35,302,723 (GRCm39)	V996D	probably benign	Het
Hepacam2	C	A	6: 3,467,623 (GRCm39)		probably null	Het
Hira	A	G	16: 18,716,537 (GRCm39)	T101A	probably benign	Het
Ighv8-9	T	A	12: 115,432,204 (GRCm39)	T36S	possibly damaging	Het
Lama5	A	T	2: 179,843,832 (GRCm39)	C413S	probably damaging	Het
Lpcat2b	G	T	5: 107,580,913 (GRCm39)	V81L	probably benign	Het
Map1b	C	G	13: 99,568,624 (GRCm39)	E1366Q	unknown	Het
Marchf4	C	A	1: 72,574,035 (GRCm39)	A88S	probably benign	Het
Mipol1	T	A	12: 57,507,651 (GRCm39)	M387K	probably benign	Het
Mtor	T	C	4: 148,623,356 (GRCm39)	S2069P	probably damaging	Het
Mycbp2	T	A	14: 103,393,781 (GRCm39)	T2927S	probably benign	Het
Nfatc1	A	T	18: 80,741,180 (GRCm39)	N273K	possibly damaging	Het
Or10p22	T	C	10: 128,826,317 (GRCm39)	C179R	probably damaging	Het
Or2i1	T	A	17: 37,507,861 (GRCm39)	T258S	probably damaging	Het
Or5k15	T	A	16: 58,709,750 (GRCm39)	T278S	possibly damaging	Het
Or5v1	A	T	17: 37,809,583 (GRCm39)	I14F	probably damaging	Het
Or7a36	A	G	10: 78,820,547 (GRCm39)	K308E		Het
Or8b49	A	T	9: 38,505,662 (GRCm39)	L48F	probably damaging	Het
Parp16	A	G	9: 65,133,396 (GRCm39)	D79G	probably benign	Het
Ppp4r3b	T	C	11: 29,144,598 (GRCm39)	V316A	probably benign	Het
Ptcd2	G	A	13: 99,476,505 (GRCm39)	T78I	probably damaging	Het
Rbpjl	A	G	2: 164,250,313 (GRCm39)	Y155C	probably damaging	Het
Slc5a7	G	T	17: 54,591,258 (GRCm39)	Q225K	possibly damaging	Het
Stom	T	C	2: 35,205,937 (GRCm39)	N264S	probably damaging	Het
Tbc1d2b	C	T	9: 90,108,190 (GRCm39)	E454K	probably damaging	Het
Tmem209	C	T	6: 30,489,365 (GRCm39)	C495Y	probably damaging	Het
Tnn	T	C	1: 159,953,099 (GRCm39)	D647G	probably damaging	Het
Vmn2r44	A	T	7: 8,381,101 (GRCm39)	V264E	probably damaging	Het
Wscd2	A	T	5: 113,715,401 (GRCm39)	I414F	possibly damaging	Het
Xkr5	A	G	8: 18,983,787 (GRCm39)	V585A	probably benign	Het
Zfp456	G	A	13: 67,514,603 (GRCm39)	R368C	probably benign	Het
Zscan18	G	A	7: 12,509,120 (GRCm39)	Q127*	probably null	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
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'- TTAAGGTGCATGGCAGAGGC -3'
(R):5'- AACAGGTCTAGGTAGCCAGG -3'

Sequencing Primer
(F):5'- TGCATGGCAGAGGCATCTC -3'
(R):5'- CCAGGGCTGTGGTGGGC -3'

Posted On

2022-01-20