Incidental Mutation 'R2932:Mtmr2'
| ID |
254973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr2
|
| Ensembl Gene |
ENSMUSG00000031918 |
| Gene Name |
myotubularin related protein 2 |
| Synonyms |
6030445P13Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.653)
|
| Stock # |
R2932 (G1)
|
| Quality Score |
107 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
13659706-13717777 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 13660413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034396]
[ENSMUST00000134674]
[ENSMUST00000155679]
[ENSMUST00000156801]
|
| AlphaFold |
Q9Z2D1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034396
|
| SMART Domains |
Protein: ENSMUSP00000034396
Gene: ENSMUSG00000031918
| 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: ENSMUST00000134530
|
| SMART Domains |
Protein: ENSMUSP00000121223
Gene: ENSMUSG00000031918
| 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 |
probably benign
Transcript: ENSMUST00000155679
|
| SMART Domains |
Protein: ENSMUSP00000115906
Gene: ENSMUSG00000031918
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,597,544 (GRCm39) |
D1259G |
possibly damaging |
Het |
| Arpp21 |
T |
C |
9: 112,008,173 (GRCm39) |
D106G |
probably damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,909,406 (GRCm39) |
S542P |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,612,538 (GRCm39) |
N209S |
probably benign |
Het |
| Ccdc15 |
G |
A |
9: 37,226,954 (GRCm39) |
T327I |
probably benign |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,287,240 (GRCm39) |
S761L |
probably damaging |
Het |
| Loricrin |
AGCCGCCGCCGCCGCCGCCGCCGCCGCC |
AGCCGCCGCCGCCGCCGCCGCCGCC |
3: 91,989,185 (GRCm39) |
|
probably benign |
Het |
| Lrrc1 |
T |
A |
9: 77,364,721 (GRCm39) |
H153L |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 96,931,935 (GRCm39) |
|
probably benign |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,194 (GRCm39) |
L177S |
probably benign |
Het |
| Mtnr1b |
A |
T |
9: 15,785,620 (GRCm39) |
V46E |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,103,418 (GRCm39) |
E207G |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,830,430 (GRCm39) |
S137P |
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,824,978 (GRCm39) |
I224V |
possibly damaging |
Het |
| Oas1g |
T |
G |
5: 121,017,206 (GRCm39) |
K283Q |
probably benign |
Het |
| Pex12 |
T |
A |
11: 83,187,049 (GRCm39) |
M300L |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,569,148 (GRCm39) |
V1237A |
possibly damaging |
Het |
| Rc3h2 |
C |
A |
2: 37,268,371 (GRCm39) |
V920F |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
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 |
|
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 |
|
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'- ATCACGTATGATCTCACATCACTAC -3'
(R):5'- TTCTCCATGGCGCGAGAAAC -3'
Sequencing Primer
(F):5'- ATGATCTCACATCACTACTTCTAACC -3'
(R):5'- AGAAACTGGAGGCCGCTGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation