Mutagenetix > Incidental Mutation

Incidental Mutation 'R7072:Mtmr2'

548967

Institutional Source

Beutler Lab

Gene Symbol

Mtmr2

Ensembl Gene

ENSMUSG00000031918

Gene Name

myotubularin related protein 2

Synonyms

6030445P13Rik

MMRRC Submission

045168-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.653) question?

Stock #

R7072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13659706-13717777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13699916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 101 (V101A)

Ref Sequence

ENSEMBL: ENSMUSP00000034396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034396] [ENSMUST00000134674] [ENSMUST00000152532] [ENSMUST00000155679] [ENSMUST00000156801]

AlphaFold

Q9Z2D1

Predicted Effect

probably benign
Transcript: ENSMUST00000034396
AA Change: V101A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034396
Gene: ENSMUSG00000031918
AA Change: V101A

Domain	Start	End	E-Value	Type
low complexity region	41	55	N/A	INTRINSIC
GRAM	65	139	1.57e-11	SMART
Pfam:Myotub-related	192	529	1.7e-152	PFAM
low complexity region	616	631	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134530

SMART Domains

Protein: ENSMUSP00000121223
Gene: ENSMUSG00000031918

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC
PDB:1M7R\|B	15	66	5e-15	PDB
Blast:GRAM	43	66	8e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000134674

SMART Domains

Protein: ENSMUSP00000121933
Gene: ENSMUSG00000031918

Domain	Start	End	E-Value	Type
PDB:1M7R\|B	1	62	2e-9	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000152532
AA Change: V29A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114509
Gene: ENSMUSG00000031918
AA Change: V29A

Domain	Start	End	E-Value	Type
GRAM	3	67	6.19e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155679
AA Change: V29A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115906
Gene: ENSMUSG00000031918
AA Change: V29A

Domain	Start	End	E-Value	Type
GRAM	3	67	6.19e-10	SMART
Pfam:Myotub-related	119	459	6.7e-152	PFAM
Pfam:Y_phosphatase	266	370	3.9e-6	PFAM
low complexity region	544	559	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156801

SMART Domains

Protein: ENSMUSP00000117332
Gene: ENSMUSG00000031918

Domain	Start	End	E-Value	Type
PDB:1M7R\|B	1	62	2e-9	PDB

Coding Region Coverage

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

Validation Efficiency

100% (73/73)

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 myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mutants develop progressive neuropathy characterized by myelin outfolding and recurrent loops and depletion of spermatids and spermatocytes from the seminiferous epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,967,592 (GRCm39)	L2214Q	probably damaging	Het
Acbd3	T	C	1: 180,553,934 (GRCm39)	F90L	probably benign	Het
Ahnak2	T	A	12: 112,751,786 (GRCm39)	Q23L		Het
Anpep	A	T	7: 79,485,127 (GRCm39)	L620I	possibly damaging	Het
Bpi	T	C	2: 158,113,998 (GRCm39)	S299P	probably damaging	Het
Bpifa2	A	G	2: 153,853,293 (GRCm39)	D132G	probably damaging	Het
Brd7	T	A	8: 89,073,615 (GRCm39)	E258D	probably benign	Het
Btc	T	C	5: 91,550,796 (GRCm39)		probably benign	Het
Cacna1c	A	G	6: 118,573,067 (GRCm39)	V2039A		Het
Calm4	T	A	13: 3,888,275 (GRCm39)	V127E	probably benign	Het
Casp8ap2	T	A	4: 32,644,766 (GRCm39)	S1280T	probably damaging	Het
Cc2d2b	T	C	19: 40,748,803 (GRCm39)	V80A	unknown	Het
Ccdc33	A	G	9: 58,019,267 (GRCm39)	*279R	probably null	Het
Cercam	T	A	2: 29,771,936 (GRCm39)	H585Q	probably benign	Het
Cnnm1	A	G	19: 43,429,296 (GRCm39)	D138G	probably benign	Het
Cox4i2	T	C	2: 152,602,573 (GRCm39)	F89S	probably damaging	Het
Crb1	G	A	1: 139,165,013 (GRCm39)	T1098I	probably damaging	Het
Csnk1e	C	T	15: 79,322,967 (GRCm39)		probably null	Het
Ctsj	C	A	13: 61,150,897 (GRCm39)	E187*	probably null	Het
Dagla	A	T	19: 10,233,659 (GRCm39)		probably null	Het
Dnah7a	G	A	1: 53,458,912 (GRCm39)	T3742I	probably benign	Het
Dnajc6	A	C	4: 101,472,812 (GRCm39)	H381P	probably damaging	Het
Dyrk3	A	T	1: 131,057,465 (GRCm39)	L236Q	probably damaging	Het
Edc4	T	A	8: 106,614,634 (GRCm39)	D105E	probably damaging	Het
Frmd5	A	T	2: 121,388,351 (GRCm39)	L241Q	probably damaging	Het
Gcc2	A	G	10: 58,106,749 (GRCm39)	T662A	probably benign	Het
Gins1	C	T	2: 150,751,671 (GRCm39)		probably null	Het
Gli3	T	A	13: 15,900,280 (GRCm39)	N1222K	possibly damaging	Het
Gm4302	G	T	10: 100,177,521 (GRCm39)	Q268H	unknown	Het
Grin2d	A	T	7: 45,506,922 (GRCm39)	W518R	probably damaging	Het
Grm5	A	T	7: 87,723,512 (GRCm39)	I601F	probably damaging	Het
Gtpbp10	A	T	5: 5,596,365 (GRCm39)	N193K	probably benign	Het
Igdcc4	T	G	9: 65,038,013 (GRCm39)	V798G	probably damaging	Het
Igkv8-19	A	T	6: 70,318,396 (GRCm39)	F13I	probably benign	Het
Kctd11	T	A	11: 69,770,621 (GRCm39)	N139I	probably benign	Het
Lmo7	G	A	14: 102,136,136 (GRCm39)		probably null	Het
Lrrk2	A	T	15: 91,686,123 (GRCm39)	M2155L	probably benign	Het
Ly6g6g	C	T	15: 74,644,119 (GRCm39)	V66M		Het
Mettl24	A	C	10: 40,559,509 (GRCm39)	H53P	probably benign	Het
Mier2	A	G	10: 79,376,133 (GRCm39)	M264T	unknown	Het
Mplkip	T	C	13: 17,870,122 (GRCm39)	I18T	unknown	Het
Nbeal2	G	T	9: 110,455,119 (GRCm39)	T2593K	probably benign	Het
Neu3	A	T	7: 99,463,404 (GRCm39)	C106*	probably null	Het
Nutm1	T	C	2: 112,082,192 (GRCm39)	T295A	probably benign	Het
Or2h2b-ps1	A	G	17: 37,481,269 (GRCm39)	I90T	probably benign	Het
Pcdhga7	G	T	18: 37,850,329 (GRCm39)	V779L	probably benign	Het
Pde10a	A	G	17: 9,161,858 (GRCm39)	E231G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plcg2	T	A	8: 118,316,574 (GRCm39)		probably null	Het
Pofut2	T	C	10: 77,095,263 (GRCm39)	L36P	probably benign	Het
Pou6f2	T	C	13: 18,299,754 (GRCm39)	N635S		Het
Pramel14	A	C	4: 143,720,698 (GRCm39)	I81R	probably damaging	Het
Ptpra	T	C	2: 130,395,350 (GRCm39)	Y818H	probably damaging	Het
Rad18	T	C	6: 112,658,401 (GRCm39)	E168G	probably benign	Het
Rev1	C	A	1: 38,106,626 (GRCm39)	E634*	probably null	Het
Sec24d	A	G	3: 123,124,000 (GRCm39)	D403G	probably damaging	Het
Sema5a	C	A	15: 32,575,105 (GRCm39)	H404Q	possibly damaging	Het
Shank1	A	G	7: 43,994,370 (GRCm39)	S844G	unknown	Het
Slc32a1	T	A	2: 158,453,416 (GRCm39)	Y85*	probably null	Het
Slc39a4	T	C	15: 76,497,458 (GRCm39)	T485A	probably damaging	Het
Sp5	A	C	2: 70,307,074 (GRCm39)	Q253P	probably benign	Het
Sspo	A	T	6: 48,431,913 (GRCm39)	D709V	probably damaging	Het
Sucnr1	A	G	3: 59,993,604 (GRCm39)	Y44C	probably damaging	Het
Taar8b	A	G	10: 23,967,876 (GRCm39)	L106P	possibly damaging	Het
Tbc1d9	A	G	8: 83,991,494 (GRCm39)	D922G	probably damaging	Het
Tbx6	A	T	7: 126,383,912 (GRCm39)	D322V	probably benign	Het
Tex15	T	A	8: 34,065,459 (GRCm39)	S1630T	possibly damaging	Het
Ube2o	G	A	11: 116,432,327 (GRCm39)	P880S	probably benign	Het
Uck1	C	T	2: 32,148,178 (GRCm39)	R182Q	probably damaging	Het
Utrn	T	A	10: 12,340,957 (GRCm39)	H2840L	probably damaging	Het
Vps8	A	G	16: 21,400,329 (GRCm39)	T1266A	probably benign	Het
Wnk1	A	T	6: 119,914,822 (GRCm39)	I1909N	unknown	Het
Zfp352	C	T	4: 90,112,661 (GRCm39)	T267I	probably benign	Het
Zfp773	A	T	7: 7,135,874 (GRCm39)	C241S	probably benign	Het
Zfp934	T	C	13: 62,668,339 (GRCm39)	D8G	probably damaging	Het

Other mutations in Mtmr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Mtmr2	APN	9	13,697,212 (GRCm39)	missense	probably benign	0.45
IGL01328:Mtmr2	APN	9	13,713,223 (GRCm39)	nonsense	probably null
IGL02305:Mtmr2	APN	9	13,706,551 (GRCm39)	missense	probably damaging	1.00
IGL03069:Mtmr2	APN	9	13,704,501 (GRCm39)	nonsense	probably null
PIT4431001:Mtmr2	UTSW	9	13,704,475 (GRCm39)	missense	probably benign	0.01
R0280:Mtmr2	UTSW	9	13,710,545 (GRCm39)	missense	probably damaging	1.00
R0636:Mtmr2	UTSW	9	13,713,209 (GRCm39)	critical splice acceptor site	probably null
R0831:Mtmr2	UTSW	9	13,707,409 (GRCm39)	missense	probably damaging	0.99
R1202:Mtmr2	UTSW	9	13,714,748 (GRCm39)	missense	probably benign
R1663:Mtmr2	UTSW	9	13,714,797 (GRCm39)	missense	probably damaging	1.00
R1679:Mtmr2	UTSW	9	13,700,373 (GRCm39)	missense	probably damaging	1.00
R2086:Mtmr2	UTSW	9	13,711,248 (GRCm39)	missense	probably damaging	1.00
R2254:Mtmr2	UTSW	9	13,707,353 (GRCm39)	missense	possibly damaging	0.49
R2255:Mtmr2	UTSW	9	13,707,353 (GRCm39)	missense	possibly damaging	0.49
R2932:Mtmr2	UTSW	9	13,660,413 (GRCm39)	unclassified	probably benign
R4172:Mtmr2	UTSW	9	13,711,358 (GRCm39)	missense	probably damaging	1.00
R4669:Mtmr2	UTSW	9	13,707,260 (GRCm39)	missense	probably damaging	1.00
R5248:Mtmr2	UTSW	9	13,694,905 (GRCm39)	intron	probably benign
R5317:Mtmr2	UTSW	9	13,704,475 (GRCm39)	missense	probably benign	0.01
R5326:Mtmr2	UTSW	9	13,699,943 (GRCm39)	missense	probably damaging	1.00
R5573:Mtmr2	UTSW	9	13,704,463 (GRCm39)	missense	probably benign	0.15
R5830:Mtmr2	UTSW	9	13,713,274 (GRCm39)	missense	probably benign	0.00
R6332:Mtmr2	UTSW	9	13,711,325 (GRCm39)	missense	probably damaging	0.99
R6638:Mtmr2	UTSW	9	13,707,429 (GRCm39)	missense	probably damaging	1.00
R6791:Mtmr2	UTSW	9	13,716,678 (GRCm39)	missense	probably benign	0.02
R7474:Mtmr2	UTSW	9	13,710,521 (GRCm39)	missense	probably damaging	1.00
R7722:Mtmr2	UTSW	9	13,716,104 (GRCm39)	missense	probably benign
R8399:Mtmr2	UTSW	9	13,703,363 (GRCm39)	missense	probably benign	0.01
R9475:Mtmr2	UTSW	9	13,716,767 (GRCm39)	missense	probably benign
R9567:Mtmr2	UTSW	9	13,713,301 (GRCm39)	nonsense	probably null
R9618:Mtmr2	UTSW	9	13,707,315 (GRCm39)	missense	probably benign	0.14
R9782:Mtmr2	UTSW	9	13,713,293 (GRCm39)	missense	probably benign	0.05
Z1176:Mtmr2	UTSW	9	13,710,577 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGTTTGGATTAAGCCTCTGAGG -3'
(R):5'- AGTCAATGCTTTCCGGCAG -3'

Sequencing Primer
(F):5'- CTGTTTTCAACAGCACATAG -3'
(R):5'- AATGCTTTCCGGCAGTGAAC -3'

Posted On

2019-05-15