Mutagenetix > Incidental Mutations

Incidental Mutation 'R8399:Mtmr2'

647773

Institutional Source

Beutler Lab

Gene Symbol

Mtmr2

Ensembl Gene

ENSMUSG00000031918

Gene Name

myotubularin related protein 2

Synonyms

6030445P13Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R8399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13748410-13806481 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13792067 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 186 (V186E)

Ref Sequence

ENSEMBL: ENSMUSP00000034396 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034396
AA Change: V186E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000034396
Gene: ENSMUSG00000031918
AA Change: V186E

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: 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

SMART Domains

Protein: ENSMUSP00000114509
Gene: ENSMUSG00000031918

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155679
AA Change: V114E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000115906
Gene: ENSMUSG00000031918
AA Change: V114E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,489,170	V3384D	possibly damaging	Het
Apba3	C	A	10: 81,268,998	T35N	probably benign	Het
Bcl6	T	C	16: 23,972,948	M219V	probably benign	Het
Bco2	T	A	9: 50,541,118	T217S	probably benign	Het
C1s1	C	T	6: 124,535,293	V277I	probably benign	Het
Ccdc162	T	A	10: 41,539,521	R2149W	probably damaging	Het
Cers6	T	C	2: 68,861,771	F46L	probably benign	Het
Chpf	T	C	1: 75,476,220	I359V	probably benign	Het
Chrnb4	A	C	9: 55,043,823	L52R	probably benign	Het
Cox6a1	T	C	5: 115,345,899	T95A	probably damaging	Het
Def8	T	A	8: 123,455,499	Y197*	probably null	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dnaaf3	C	T	7: 4,523,937		probably null	Het
Dnm1l	T	A	16: 16,321,672	H484L	probably damaging	Het
Eml1	G	A	12: 108,538,131	S783N	possibly damaging	Het
Frmd4a	T	C	2: 4,572,433	S367P	probably damaging	Het
Hck	A	C	2: 153,138,317	K355N	probably damaging	Het
Hexim2	G	T	11: 103,138,503	R127L	probably damaging	Het
Hivep2	T	C	10: 14,132,434	L1592P	possibly damaging	Het
Htr1d	G	A	4: 136,443,375	G305E	probably damaging	Het
Ifi207	G	A	1: 173,730,278	S298L	unknown	Het
Ighv1-11	A	G	12: 114,612,427	V56A	possibly damaging	Het
Ighv7-1	G	A	12: 113,896,912	T12I	unknown	Het
Kctd14	T	C	7: 97,457,604	L22P	probably damaging	Het
Klra17	T	C	6: 129,874,937		probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Maf	T	A	8: 115,706,512	I118F	unknown	Het
Mppe1	T	C	18: 67,225,875	T341A	probably benign	Het
Nedd9	G	T	13: 41,318,474	Y176*	probably null	Het
Olfr1145	A	C	2: 87,810,224	M135L	probably damaging	Het
Olfr1238	T	C	2: 89,406,684	T132A	probably benign	Het
Omd	A	G	13: 49,589,869	I132V	possibly damaging	Het
Pcnx4	T	A	12: 72,574,211	M935K	probably benign	Het
Pecr	G	A	1: 72,267,465	T219I	probably benign	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Plcg2	T	C	8: 117,596,362	Y719H	probably damaging	Het
Plk4	C	T	3: 40,808,830	R479*	probably null	Het
Pms1	T	A	1: 53,267,932		probably null	Het
Raph1	C	T	1: 60,489,318	S928N	unknown	Het
Rtp4	G	T	16: 23,520,414		probably benign	Het
Skor1	C	T	9: 63,145,158	V510I	possibly damaging	Het
Smg1	T	C	7: 118,190,571	T699A	unknown	Het
Tcp11l1	T	C	2: 104,685,375	D381G	probably benign	Het
Tnik	T	A	3: 28,494,010	M56K	unknown	Het
Trappc9	G	A	15: 73,052,282	R204C	probably damaging	Het
Trmt10b	A	T	4: 45,305,870	M184L	possibly damaging	Het
Vmn1r224	T	A	17: 20,419,749	I196N	probably damaging	Het
Vmn1r49	A	T	6: 90,072,707	C104*	probably null	Het
Vmn2r35	A	C	7: 7,816,898	S124R	probably benign	Het
Wdr62	T	C	7: 30,258,061	E547G	probably damaging	Het
Zfp68	A	T	5: 138,607,820	D80E	probably benign	Het

Other mutations in Mtmr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Mtmr2	APN	9	13785916	missense	probably benign	0.45
IGL01328:Mtmr2	APN	9	13801927	nonsense	probably null
IGL02305:Mtmr2	APN	9	13795255	missense	probably damaging	1.00
IGL03069:Mtmr2	APN	9	13793205	nonsense	probably null
PIT4431001:Mtmr2	UTSW	9	13793179	missense	probably benign	0.01
R0280:Mtmr2	UTSW	9	13799249	missense	probably damaging	1.00
R0636:Mtmr2	UTSW	9	13801913	critical splice acceptor site	probably null
R0831:Mtmr2	UTSW	9	13796113	missense	probably damaging	0.99
R1202:Mtmr2	UTSW	9	13803452	missense	probably benign
R1663:Mtmr2	UTSW	9	13803501	missense	probably damaging	1.00
R1679:Mtmr2	UTSW	9	13789077	missense	probably damaging	1.00
R2086:Mtmr2	UTSW	9	13799952	missense	probably damaging	1.00
R2254:Mtmr2	UTSW	9	13796057	missense	possibly damaging	0.49
R2255:Mtmr2	UTSW	9	13796057	missense	possibly damaging	0.49
R2932:Mtmr2	UTSW	9	13749117	unclassified	probably benign
R4172:Mtmr2	UTSW	9	13800062	missense	probably damaging	1.00
R4669:Mtmr2	UTSW	9	13795964	missense	probably damaging	1.00
R5248:Mtmr2	UTSW	9	13783609	intron	probably benign
R5317:Mtmr2	UTSW	9	13793179	missense	probably benign	0.01
R5326:Mtmr2	UTSW	9	13788647	missense	probably damaging	1.00
R5573:Mtmr2	UTSW	9	13793167	missense	probably benign	0.15
R5830:Mtmr2	UTSW	9	13801978	missense	probably benign	0.00
R6332:Mtmr2	UTSW	9	13800029	missense	probably damaging	0.99
R6638:Mtmr2	UTSW	9	13796133	missense	probably damaging	1.00
R6791:Mtmr2	UTSW	9	13805382	missense	probably benign	0.02
R7072:Mtmr2	UTSW	9	13788620	missense	probably benign	0.00
R7474:Mtmr2	UTSW	9	13799225	missense	probably damaging	1.00
R7722:Mtmr2	UTSW	9	13804808	missense	probably benign
Z1176:Mtmr2	UTSW	9	13799281	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGCAGATCTTCCCTTTACCCAAC -3'
(R):5'- ATCCAGACCTCATGGAGCTG -3'

Sequencing Primer
(F):5'- AGATCTTCCCTTTACCCAACATTTC -3'
(R):5'- GTACAGCACTTGCCTAGCATG -3'

Posted On

2020-09-02