Mutagenetix > Incidental Mutation

Incidental Mutation 'R1663:Mtmr2'

186939

Institutional Source

Beutler Lab

Gene Symbol

Mtmr2

Ensembl Gene

ENSMUSG00000031918

Gene Name

myotubularin related protein 2

Synonyms

6030445P13Rik

MMRRC Submission

039699-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.653) question?

Stock #

R1663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13659706-13717777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13714797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 519 (T519I)

Ref Sequence

ENSEMBL: ENSMUSP00000034396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034396] [ENSMUST00000034398] [ENSMUST00000124883] [ENSMUST00000134674] [ENSMUST00000142494] [ENSMUST00000147115] [ENSMUST00000155679] [ENSMUST00000148086]

AlphaFold

Q9Z2D1

Predicted Effect

probably damaging
Transcript: ENSMUST00000034396
AA Change: T519I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034396
Gene: ENSMUSG00000031918
AA Change: T519I

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: ENSMUST00000034398

SMART Domains

Protein: ENSMUSP00000034398
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Cep57_CLD	68	245	9.8e-67	PFAM
low complexity region	259	271	N/A	INTRINSIC
Pfam:Cep57_MT_bd	348	420	2.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124883

SMART Domains

Protein: ENSMUSP00000119081
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	1	96	4.7e-34	PFAM
low complexity region	110	122	N/A	INTRINSIC
Pfam:Cep57_MT_bd	196	271	4e-21	PFAM

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: ENSMUST00000142494

SMART Domains

Protein: ENSMUSP00000114749
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Cep57_CLD	68	245	3.3e-72	PFAM
low complexity region	259	271	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146901

Predicted Effect

probably benign
Transcript: ENSMUST00000147115

SMART Domains

Protein: ENSMUSP00000116931
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Cep57_CLD	68	245	2.1e-72	PFAM
low complexity region	254	275	N/A	INTRINSIC
Pfam:Cep57_MT_bd	319	394	1.3e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155679
AA Change: T447I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115906
Gene: ENSMUSG00000031918
AA Change: T447I

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: ENSMUST00000148086

SMART Domains

Protein: ENSMUSP00000114665
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	41	218	1e-71	PFAM
low complexity region	232	244	N/A	INTRINSIC
Pfam:Cep57_MT_bd	318	393	6e-24	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

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 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,177,949 (GRCm39)	T11S	probably benign	Het
Adgb	T	C	10: 10,215,419 (GRCm39)	M1529V	possibly damaging	Het
Ankrd36	T	A	11: 5,570,126 (GRCm39)	D531E	possibly damaging	Het
Ankzf1	C	T	1: 75,172,914 (GRCm39)	P337S	probably damaging	Het
Apc	A	G	18: 34,401,378 (GRCm39)	I55V	probably damaging	Het
Aplnr	A	G	2: 84,967,038 (GRCm39)	D21G	possibly damaging	Het
Apol10b	A	T	15: 77,472,914 (GRCm39)	F47I	probably damaging	Het
Arhgef5	G	A	6: 43,253,899 (GRCm39)	A1131T	probably damaging	Het
Arrb2	A	T	11: 70,328,429 (GRCm39)	Q83L	probably damaging	Het
Atf7ip	A	G	6: 136,580,322 (GRCm39)	Q1082R	possibly damaging	Het
Atl2	A	G	17: 80,172,140 (GRCm39)	S28P	probably damaging	Het
Brd7	T	C	8: 89,084,651 (GRCm39)	K89E	possibly damaging	Het
Cc2d1b	A	G	4: 108,480,744 (GRCm39)	T55A	probably damaging	Het
Ccdc18	A	G	5: 108,363,956 (GRCm39)	E1217G	probably damaging	Het
Cdc42ep4	A	T	11: 113,620,277 (GRCm39)	M38K	probably damaging	Het
Cldn14	A	G	16: 93,716,166 (GRCm39)	S227P	probably damaging	Het
Clspn	T	A	4: 126,459,768 (GRCm39)	C332S	probably benign	Het
Col5a1	T	C	2: 27,841,488 (GRCm39)	S370P	unknown	Het
Comp	T	C	8: 70,826,250 (GRCm39)	L10P	possibly damaging	Het
Dcc	A	T	18: 71,959,123 (GRCm39)	N216K	probably damaging	Het
Dcstamp	C	T	15: 39,618,340 (GRCm39)	Q250*	probably null	Het
Drd5	T	C	5: 38,478,198 (GRCm39)	F397S	probably benign	Het
Dst	T	C	1: 34,202,466 (GRCm39)	S265P	probably damaging	Het
Dync2i1	T	C	12: 116,193,230 (GRCm39)	Q574R	probably benign	Het
Enam	A	T	5: 88,651,853 (GRCm39)	S1046C	probably damaging	Het
Eno3	T	C	11: 70,553,100 (GRCm39)		probably null	Het
Fam13a	G	A	6: 58,931,357 (GRCm39)	R408*	probably null	Het
Gipc2	T	A	3: 151,799,801 (GRCm39)	M310L	probably benign	Het
Gm14496	T	C	2: 181,639,230 (GRCm39)	V440A	probably benign	Het
Gzmg	A	T	14: 56,394,265 (GRCm39)	C210S	probably damaging	Het
Helb	G	T	10: 119,941,338 (GRCm39)	A450E	probably damaging	Het
Hepacam2	A	T	6: 3,483,439 (GRCm39)	I190N	possibly damaging	Het
Hk3	A	T	13: 55,154,388 (GRCm39)	S773T	probably benign	Het
Hnrnpc	A	G	14: 52,312,852 (GRCm39)	S221P	probably damaging	Het
Ifna9	T	C	4: 88,510,220 (GRCm39)	T135A	probably benign	Het
Igfn1	C	T	1: 135,896,046 (GRCm39)	G1507R	probably benign	Het
Kank3	A	G	17: 34,037,349 (GRCm39)	T218A	probably benign	Het
Kcp	G	T	6: 29,498,964 (GRCm39)	R337S	possibly damaging	Het
Krt74	A	T	15: 101,665,109 (GRCm39)		noncoding transcript	Het
Lrp1	A	T	10: 127,392,790 (GRCm39)	D2758E	probably damaging	Het
Ly75	T	C	2: 60,144,578 (GRCm39)	E1295G	probably damaging	Het
Mccc1	C	A	3: 36,033,082 (GRCm39)	W354L	probably damaging	Het
Mmp1a	C	T	9: 7,465,657 (GRCm39)	T198M	probably benign	Het
Nbea	A	G	3: 55,553,407 (GRCm39)	S2632P	possibly damaging	Het
Nbn	T	A	4: 15,970,903 (GRCm39)	D295E	probably benign	Het
Ndufb8	T	C	19: 44,538,820 (GRCm39)	Y167C	probably damaging	Het
Nisch	A	G	14: 30,913,478 (GRCm39)		probably benign	Het
Notch3	C	T	17: 32,375,093 (GRCm39)	G407D	probably damaging	Het
Nucb1	A	G	7: 45,148,288 (GRCm39)	F175S	probably damaging	Het
Or1l8	T	G	2: 36,817,346 (GRCm39)	Y260S	probably damaging	Het
Or6c6c	G	A	10: 129,541,160 (GRCm39)	V138M	probably benign	Het
Or7g12	T	A	9: 18,900,006 (GRCm39)	C241S	probably damaging	Het
Or8b44	T	G	9: 38,410,868 (GRCm39)	I301R	unknown	Het
Pip5k1c	T	C	10: 81,148,349 (GRCm39)	V425A	probably damaging	Het
Pnisr	T	A	4: 21,873,857 (GRCm39)		probably benign	Het
Prkag1	A	G	15: 98,713,776 (GRCm39)	V18A	probably damaging	Het
Rad50	T	C	11: 53,559,050 (GRCm39)	N1063S	probably benign	Het
Rnf170	C	T	8: 26,619,171 (GRCm39)	H132Y	probably damaging	Het
Rnf213	A	G	11: 119,328,498 (GRCm39)	D1977G	probably benign	Het
Sema3a	G	A	5: 13,607,092 (GRCm39)		probably null	Het
Setx	T	A	2: 29,016,917 (GRCm39)	C7S	probably damaging	Het
Slc23a2	A	G	2: 131,907,384 (GRCm39)	I417T	probably damaging	Het
Spink6	T	G	18: 44,204,588 (GRCm39)	F18C	unknown	Het
Sptbn1	T	C	11: 30,070,783 (GRCm39)	Q1538R	possibly damaging	Het
Strn3	A	G	12: 51,699,609 (GRCm39)	Y188H	probably damaging	Het
Tecpr1	C	A	5: 144,134,762 (GRCm39)	K1040N	probably benign	Het
Tll1	T	A	8: 64,470,720 (GRCm39)	Y901F	probably benign	Het
Tmem81	C	T	1: 132,435,635 (GRCm39)	A147V	probably benign	Het
Tnpo3	T	C	6: 29,565,758 (GRCm39)	D532G	probably benign	Het
Vmn2r19	T	A	6: 123,313,411 (GRCm39)	I827N	probably benign	Het
Wdr35	A	G	12: 9,070,000 (GRCm39)	K857R	probably benign	Het
Zfp110	A	G	7: 12,582,569 (GRCm39)	T406A	probably benign	Het
Zfp52	T	C	17: 21,782,084 (GRCm39)	L644P	possibly damaging	Het
Zfp605	G	A	5: 110,275,451 (GRCm39)	V190I	probably benign	Het
Zfp964	A	G	8: 70,116,733 (GRCm39)		probably null	Het
Zmynd8	A	G	2: 165,649,805 (GRCm39)	S779P	probably benign	Het
Zswim5	T	A	4: 116,844,092 (GRCm39)	N1043K	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
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
R7072:Mtmr2	UTSW	9	13,699,916 (GRCm39)	missense	probably benign	0.00
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'- CTGCATGGGAAAGACTCTACCTTGG -3'
(R):5'- ACCTGGTAGCAGGGCTTTTCAGTG -3'

Sequencing Primer
(F):5'- AATAATGCTCTGATGGCTTAGGTAG -3'
(R):5'- ggcaagcactccagcac -3'

Posted On

2014-05-09