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)
|
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
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: 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: ENSMUST00000146901
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152532
|
SMART Domains |
Protein: ENSMUSP00000114509 Gene: ENSMUSG00000031918
Domain | Start | End | E-Value | Type |
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
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: 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |