Incidental Mutation 'R5317:Mtmr2'
ID 405874
Institutional Source Beutler Lab
Gene Symbol Mtmr2
Ensembl Gene ENSMUSG00000031918
Gene Name myotubularin related protein 2
Synonyms 6030445P13Rik
MMRRC Submission 042900-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.567) question?
Stock # R5317 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 13659706-13717777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13704475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 201 (F201L)
Ref Sequence ENSEMBL: ENSMUSP00000034396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034396] [ENSMUST00000134674] [ENSMUST00000152532] [ENSMUST00000155679]
AlphaFold Q9Z2D1
Predicted Effect probably benign
Transcript: ENSMUST00000034396
AA Change: F201L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000034396
Gene: ENSMUSG00000031918
AA Change: F201L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:1M7R|B 1 62 2e-9 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146901
Predicted Effect probably benign
Transcript: ENSMUST00000152532
SMART Domains Protein: ENSMUSP00000114509
Gene: ENSMUSG00000031918

DomainStartEndE-ValueType
GRAM 3 67 6.19e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155679
AA Change: F129L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000115906
Gene: ENSMUSG00000031918
AA Change: F129L

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.6%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arih1 A C 9: 59,300,619 (GRCm39) H542Q probably benign Het
Ccn4 T G 15: 66,789,131 (GRCm39) S206A probably benign Het
Cnot8 T C 11: 58,004,029 (GRCm39) S155P probably damaging Het
Dcc C T 18: 71,517,226 (GRCm39) E810K possibly damaging Het
Dmrt2 T C 19: 25,650,844 (GRCm39) V10A probably benign Het
Dnah17 G A 11: 118,018,109 (GRCm39) R129W possibly damaging Het
Eif4a3 G T 11: 119,185,490 (GRCm39) H117N probably damaging Het
Fhip2a T A 19: 57,370,141 (GRCm39) probably null Het
Gpr179 T A 11: 97,228,671 (GRCm39) Q1161H probably damaging Het
Grm1 T G 10: 10,622,443 (GRCm39) M427L possibly damaging Het
Grxcr2 T A 18: 42,131,916 (GRCm39) H51L probably damaging Het
Il1rn C T 2: 24,239,554 (GRCm39) T150I probably benign Het
Kcnc4 C T 3: 107,366,055 (GRCm39) R51H probably damaging Het
Kcnh3 T C 15: 99,125,822 (GRCm39) S160P probably benign Het
Lrrc37 T C 11: 103,504,971 (GRCm39) I2332M possibly damaging Het
Mcm9 G A 10: 53,414,330 (GRCm39) P250L probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pan3 T C 5: 147,480,020 (GRCm39) probably null Het
Pcdhgb7 T A 18: 37,885,887 (GRCm39) D352E probably benign Het
Pdgfa A G 5: 138,974,102 (GRCm39) probably null Het
Pkhd1 T C 1: 20,520,528 (GRCm39) D1938G probably damaging Het
Plac8 C T 5: 100,704,345 (GRCm39) probably null Het
Rab11fip3 T C 17: 26,287,052 (GRCm39) E367G possibly damaging Het
Sgo2a C T 1: 58,054,683 (GRCm39) P289L probably benign Het
Slc22a18 T C 7: 143,052,896 (GRCm39) Y374H probably damaging Het
Slco2a1 T C 9: 102,956,778 (GRCm39) V530A probably benign Het
Spty2d1 A T 7: 46,648,049 (GRCm39) S293R possibly damaging Het
Stt3b G T 9: 115,081,578 (GRCm39) Y569* probably null Het
Tas2r140 A G 6: 133,032,543 (GRCm39) Y72H probably benign Het
Usp35 C T 7: 96,960,846 (GRCm39) R860H probably damaging Het
Vmn2r130 T A 17: 23,282,557 (GRCm39) M79K probably benign Het
Vsig10l T C 7: 43,114,247 (GRCm39) S190P probably damaging Het
Wwc2 C T 8: 48,300,590 (GRCm39) D958N unknown Het
Zfp318 AAGAAGG A 17: 46,723,463 (GRCm39) probably benign Het
Other mutations in Mtmr2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGCACCTTCTTGGAGATGCC -3'
(R):5'- CCAAACCAGATTAGCTTCCAGTT -3'

Sequencing Primer
(F):5'- GGAGATGCCATTCATTACTTAGAGTG -3'
(R):5'- ACCAGATTAGCTTCCAGTTAAAAC -3'
Posted On 2016-07-22