Incidental Mutation 'IGL00481:Mtmr2'
| ID |
6191 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtmr2
|
| Ensembl Gene |
ENSMUSG00000031918 |
| Gene Name |
myotubularin related protein 2 |
| Synonyms |
6030445P13Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.567)
|
| Stock # |
IGL00481
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
13659706-13717777 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13697212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 84
(I84T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034396]
[ENSMUST00000134674]
[ENSMUST00000152532]
[ENSMUST00000155679]
[ENSMUST00000156801]
|
| AlphaFold |
Q9Z2D1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034396
AA Change: I84T
PolyPhen 2
Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034396
Gene: ENSMUSG00000031918
AA Change: I84T
| 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 |
unknown
Transcript: ENSMUST00000134530
AA Change: I61T
|
| SMART Domains |
Protein: ENSMUSP00000121223
Gene: ENSMUSG00000031918
AA Change: I61T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
PDB:1M7R|B
|
15 |
66 |
5e-15 |
PDB |
|
Blast:GRAM
|
43 |
66 |
8e-8 |
BLAST |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000136735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143002
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152532
AA Change: I12T
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114509
Gene: ENSMUSG00000031918
AA Change: I12T
| Domain | Start | End | E-Value | Type |
|---|
|
GRAM
|
3 |
67 |
6.19e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155679
AA Change: I12T
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000115906
Gene: ENSMUSG00000031918
AA Change: I12T
| 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: ENSMUST00000156801
|
| SMART Domains |
Protein: ENSMUSP00000117332
Gene: ENSMUSG00000031918
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1M7R|B
|
1 |
62 |
2e-9 |
PDB |
|
| Coding Region Coverage |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,240,969 (GRCm39) |
L944P |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,373,643 (GRCm39) |
S1885G |
probably damaging |
Het |
| Aqp3 |
A |
G |
4: 41,093,632 (GRCm39) |
Y261H |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,793,305 (GRCm39) |
N1380K |
probably damaging |
Het |
| Barx2 |
T |
C |
9: 31,758,141 (GRCm39) |
I266V |
unknown |
Het |
| BC034090 |
C |
T |
1: 155,108,267 (GRCm39) |
R360H |
probably benign |
Het |
| Bmal2 |
T |
A |
6: 146,711,164 (GRCm39) |
M56K |
probably benign |
Het |
| Ccnb2 |
T |
C |
9: 70,326,189 (GRCm39) |
K52E |
probably damaging |
Het |
| Ccp110 |
G |
A |
7: 118,329,220 (GRCm39) |
V868I |
possibly damaging |
Het |
| Cfap300 |
T |
C |
9: 8,042,432 (GRCm39) |
Y57C |
probably damaging |
Het |
| Cyld |
G |
T |
8: 89,433,918 (GRCm39) |
V236F |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,208,410 (GRCm39) |
|
probably benign |
Het |
| Ehmt1 |
G |
T |
2: 24,728,830 (GRCm39) |
A637E |
possibly damaging |
Het |
| Erlin1 |
G |
T |
19: 44,057,758 (GRCm39) |
Y22* |
probably null |
Het |
| Ezh1 |
A |
T |
11: 101,090,128 (GRCm39) |
M539K |
possibly damaging |
Het |
| Fancc |
A |
T |
13: 63,548,059 (GRCm39) |
I80N |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,503,977 (GRCm39) |
S4447N |
probably benign |
Het |
| Fem1al |
A |
G |
11: 29,774,755 (GRCm39) |
L234P |
probably damaging |
Het |
| Fhip2a |
A |
G |
19: 57,369,777 (GRCm39) |
E440G |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,395,439 (GRCm39) |
Q1822R |
possibly damaging |
Het |
| Iqgap1 |
C |
T |
7: 80,409,592 (GRCm39) |
V248I |
probably benign |
Het |
| Itch |
T |
C |
2: 155,054,943 (GRCm39) |
I749T |
probably damaging |
Het |
| Kcna10 |
T |
A |
3: 107,102,830 (GRCm39) |
M487K |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,386,092 (GRCm39) |
L223Q |
probably benign |
Het |
| Myocd |
G |
A |
11: 65,077,980 (GRCm39) |
T477M |
probably damaging |
Het |
| Nfic |
A |
T |
10: 81,244,054 (GRCm39) |
V240E |
possibly damaging |
Het |
| Or4d2 |
A |
G |
11: 87,784,447 (GRCm39) |
I101T |
possibly damaging |
Het |
| Prkdc |
A |
T |
16: 15,608,330 (GRCm39) |
Y3044F |
probably benign |
Het |
| Prkg1 |
A |
G |
19: 30,549,022 (GRCm39) |
I636T |
probably benign |
Het |
| Ptpru |
A |
G |
4: 131,535,546 (GRCm39) |
V477A |
probably benign |
Het |
| Rab7b |
T |
A |
1: 131,626,329 (GRCm39) |
M119K |
possibly damaging |
Het |
| Sec61a1 |
T |
C |
6: 88,483,922 (GRCm39) |
|
probably benign |
Het |
| Sectm1b |
A |
G |
11: 120,946,799 (GRCm39) |
V32A |
probably benign |
Het |
| Shroom2 |
A |
G |
X: 151,406,219 (GRCm39) |
S1034P |
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,085,533 (GRCm39) |
I688N |
probably damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,835,301 (GRCm39) |
Y942C |
probably damaging |
Het |
| Smg1 |
C |
T |
7: 117,810,017 (GRCm39) |
R139K |
possibly damaging |
Het |
| Stt3b |
G |
A |
9: 115,080,915 (GRCm39) |
T574I |
probably benign |
Het |
| Thoc2 |
A |
G |
X: 40,968,768 (GRCm39) |
I76T |
possibly damaging |
Het |
| Tpm3 |
C |
T |
3: 89,995,024 (GRCm39) |
T180M |
probably damaging |
Het |
| Uqcrfs1 |
C |
A |
13: 30,724,908 (GRCm39) |
V211F |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,673,990 (GRCm39) |
S418G |
probably benign |
Het |
| Usp5 |
T |
C |
6: 124,806,316 (GRCm39) |
T15A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,768,147 (GRCm39) |
L122P |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,930 (GRCm39) |
E329V |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,653,046 (GRCm39) |
N846K |
possibly damaging |
Het |
| Zp1 |
G |
T |
19: 10,896,141 (GRCm39) |
P195T |
probably damaging |
Het |
|
| Other mutations in Mtmr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation