Incidental Mutation 'R1202:Mtmr2'
| ID |
100209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr2
|
| Ensembl Gene |
ENSMUSG00000031918 |
| Gene Name |
myotubularin related protein 2 |
| Synonyms |
6030445P13Rik |
| MMRRC Submission |
039272-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.567)
|
| Stock # |
R1202 (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 13714748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 431
(Y431H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034396]
[ENSMUST00000034398]
[ENSMUST00000124883]
[ENSMUST00000134674]
[ENSMUST00000142494]
[ENSMUST00000147115]
[ENSMUST00000155679]
[ENSMUST00000148086]
|
| AlphaFold |
Q9Z2D1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034396
AA Change: Y503H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034396
Gene: ENSMUSG00000031918
AA Change: Y503H
| 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 benign
Transcript: ENSMUST00000155679
AA Change: Y431H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115906
Gene: ENSMUSG00000031918
AA Change: Y431H
| 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: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 86.8%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
C |
4: 144,250,236 (GRCm39) |
F137L |
probably benign |
Het |
| Cct3 |
T |
C |
3: 88,225,835 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
A |
G |
19: 6,980,850 (GRCm39) |
F294L |
probably damaging |
Het |
| Fmn2 |
A |
T |
1: 174,440,101 (GRCm39) |
K58* |
probably null |
Het |
| Fndc5 |
G |
A |
4: 129,033,238 (GRCm39) |
V102M |
probably damaging |
Het |
| Gle1 |
C |
T |
2: 29,839,277 (GRCm39) |
A523V |
probably damaging |
Het |
| Hoxd11 |
C |
T |
2: 74,512,921 (GRCm39) |
A62V |
possibly damaging |
Het |
| Il23r |
A |
G |
6: 67,455,937 (GRCm39) |
V177A |
possibly damaging |
Het |
| Impdh2 |
G |
A |
9: 108,440,386 (GRCm39) |
R224Q |
probably damaging |
Het |
| Larp4b |
A |
G |
13: 9,216,362 (GRCm39) |
T516A |
possibly damaging |
Het |
| N4bp1 |
T |
C |
8: 87,571,515 (GRCm39) |
T828A |
probably benign |
Het |
| Nphp4 |
G |
A |
4: 152,573,186 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
| Pacs1 |
G |
A |
19: 5,185,265 (GRCm39) |
P885S |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,336,491 (GRCm39) |
N705S |
probably benign |
Het |
| Sema4g |
G |
T |
19: 44,986,696 (GRCm39) |
R383L |
probably benign |
Het |
| Slc26a10 |
A |
G |
10: 127,009,217 (GRCm39) |
L648P |
probably damaging |
Het |
| St8sia2 |
A |
T |
7: 73,621,783 (GRCm39) |
V37E |
probably benign |
Het |
| Tmem209 |
C |
G |
6: 30,508,789 (GRCm39) |
V6L |
probably benign |
Het |
| Tmprss11a |
T |
A |
5: 86,559,784 (GRCm39) |
|
probably null |
Het |
| Ube2o |
C |
T |
11: 116,432,408 (GRCm39) |
D853N |
probably damaging |
Het |
| Usp17lb |
G |
A |
7: 104,491,695 (GRCm39) |
S6F |
probably damaging |
Het |
| Vmn2r74 |
G |
A |
7: 85,610,545 (GRCm39) |
T49I |
possibly damaging |
Het |
| Zfp236 |
T |
A |
18: 82,646,291 (GRCm39) |
T1041S |
probably benign |
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 |
|
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 |
|
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'- AATACCTGAACCTGGTAGCAGGGC -3'
Sequencing Primer
(F):5'- GACTCTACCTTGGAAAGGAAAAC -3'
(R):5'- ggcaagcactccagcac -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation