Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Mtmr2'

715714

Institutional Source

Beutler Lab

Gene Symbol

Mtmr2

Ensembl Gene

ENSMUSG00000031918

Gene Name

myotubularin related protein 2

Synonyms

6030445P13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13748410-13806481 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13805471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 623 (T623A)

Ref Sequence

ENSEMBL: ENSMUSP00000034396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034396] [ENSMUST00000034398] [ENSMUST00000124883] [ENSMUST00000134674] [ENSMUST00000134746] [ENSMUST00000142494] [ENSMUST00000147115] [ENSMUST00000148086] [ENSMUST00000150893] [ENSMUST00000155679]

AlphaFold

Q9Z2D1

Predicted Effect

probably benign
Transcript: ENSMUST00000034396
AA Change: T623A

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

SMART Domains

Protein: ENSMUSP00000034396
Gene: ENSMUSG00000031918
AA Change: T623A

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: ENSMUST00000134746

SMART Domains

Protein: ENSMUSP00000116713
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Cep57_CLD	68	209	1e-56	PFAM

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

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 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

Predicted Effect

probably benign
Transcript: ENSMUST00000150893

SMART Domains

Protein: ENSMUSP00000115338
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	1	96	5.2e-37	PFAM
low complexity region	110	122	N/A	INTRINSIC
Pfam:Cep57_MT_bd	196	271	2.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155679
AA Change: T551A

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

SMART Domains

Protein: ENSMUSP00000115906
Gene: ENSMUSG00000031918
AA Change: T551A

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: 99.6%
20x: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 46,016,468	W243R	probably damaging	Het
Ablim1	T	G	19: 57,239,180	K18Q	probably benign	Het
Adamts18	T	A	8: 113,777,938	N174Y	possibly damaging	Het
Agbl2	A	G	2: 90,784,093	H23R	probably benign	Het
Akap6	T	G	12: 53,010,552	Y934D	probably damaging	Het
Alas1	C	T	9: 106,234,062	S635N	probably benign	Het
Ankrd24	A	G	10: 81,642,299		probably null	Het
Atp6v0a4	A	G	6: 38,060,982	L560P	probably damaging	Het
Cacng1	C	T	11: 107,716,292	V34M	possibly damaging	Het
Clcn3	C	T	8: 60,934,517	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,799,135	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,130	S719G	probably damaging	Het
Exosc2	G	A	2: 31,674,743	V107I	probably benign	Het
Fam83b	C	A	9: 76,491,803	V673F	probably benign	Het
Fras1	T	C	5: 96,780,070	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,998,660	L289H	probably damaging	Het
Garem1	T	C	18: 21,148,313	I329V	probably benign	Het
Gli3	G	A	13: 15,725,711	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,574,361	F72S	possibly damaging	Het
Hao1	T	A	2: 134,548,261	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Iqcm	A	G	8: 75,753,455	E347G	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnrg	A	G	14: 61,607,657	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,235,346	G524S	probably benign	Het
Lrrn1	A	T	6: 107,568,300	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849	D3701G	possibly damaging	Het
Ndst4	C	A	3: 125,714,647	S287*	probably null	Het
Ntrk3	A	C	7: 78,302,732	M579R	probably benign	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr169	T	C	16: 19,566,520	D121G	probably benign	Het
Olfr857	T	C	9: 19,713,643	M272T	probably benign	Het
Paqr5	T	A	9: 61,956,225	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,007,538	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,167,927	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,494,380	Q186*	probably null	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,495,738	G161C	probably damaging	Het
Ptprk	T	C	10: 28,334,480	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 37,878,114		probably benign	Het
Rpap2	T	A	5: 107,620,589	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,102,064	K160*	probably null	Het
Sema7a	T	C	9: 57,954,905	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,753,027	L741F	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Skint6	C	T	4: 112,806,840		probably null	Het
Skiv2l	A	T	17: 34,841,102	D897E	probably benign	Het
Slc35f3	T	C	8: 126,382,254	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,529,216	E127V	probably null	Het
Spata5	T	C	3: 37,431,909	V260A	probably benign	Het
Speg	C	T	1: 75,388,091	T372I	probably damaging	Het
Syce1l	A	G	8: 113,655,103	T204A	probably benign	Het
Tas2r138	T	A	6: 40,612,458	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,213,604	K285N	probably damaging	Het
Trim9	T	A	12: 70,346,454	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,209,280	S1293P	probably benign	Het
Uaca	C	T	9: 60,872,216	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,875,569	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,216,260	R201C	probably damaging	Het
Vps45	T	G	3: 96,042,925	T231P	probably damaging	Het
Wdr17	A	T	8: 54,635,477	D1186E	probably benign	Het
Zfp534	G	A	4: 147,682,274	T8I	probably benign	Het
Zfp68	T	C	5: 138,607,255	N269D	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
R8399:Mtmr2	UTSW	9	13792067	missense	probably benign	0.01
R9567:Mtmr2	UTSW	9	13802005	nonsense	probably null
R9618:Mtmr2	UTSW	9	13796019	missense	probably benign	0.14
R9782:Mtmr2	UTSW	9	13801997	missense	probably benign	0.05
Z1176:Mtmr2	UTSW	9	13799281	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCACAAAGCTCAATGAATGG -3'
(R):5'- CACTTGCACTGCTATGTTTCTAAAC -3'

Sequencing Primer
(F):5'- GCTCAATGAATGGTTAAGACCTC -3'
(R):5'- GCACTGCTATGTTTCTAAACTCATC -3'

Posted On

2022-06-15