Incidental Mutation 'R6791:Mtmr2'
ID |
532591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr2
|
Ensembl Gene |
ENSMUSG00000031918 |
Gene Name |
myotubularin related protein 2 |
Synonyms |
6030445P13Rik |
MMRRC Submission |
044904-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.567)
|
Stock # |
R6791 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
13659706-13717777 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13716678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 521
(I521T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034396]
[ENSMUST00000034398]
[ENSMUST00000124883]
[ENSMUST00000134674]
[ENSMUST00000134746]
[ENSMUST00000142494]
[ENSMUST00000147115]
[ENSMUST00000148086]
[ENSMUST00000150893]
[ENSMUST00000155679]
|
AlphaFold |
Q9Z2D1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034396
AA Change: I593T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000034396 Gene: ENSMUSG00000031918 AA Change: I593T
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: ENSMUST00000134746
|
SMART Domains |
Protein: ENSMUSP00000116713 Gene: ENSMUSG00000031922
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
Pfam:Cep57_CLD
|
68 |
209 |
1e-56 |
PFAM |
|
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 |
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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150893
|
SMART Domains |
Protein: ENSMUSP00000115338 Gene: ENSMUSG00000031922
Domain | Start | End | E-Value | Type |
Pfam:Cep57_CLD
|
1 |
96 |
5.2e-37 |
PFAM |
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
Pfam:Cep57_MT_bd
|
196 |
271 |
2.6e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155679
AA Change: I521T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000115906 Gene: ENSMUSG00000031918 AA Change: I521T
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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
Validation Efficiency |
100% (52/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,328,504 (GRCm39) |
C3526S |
probably damaging |
Het |
Adgrf2 |
T |
C |
17: 43,021,774 (GRCm39) |
N350S |
probably benign |
Het |
Atp12a |
G |
A |
14: 56,624,439 (GRCm39) |
|
probably null |
Het |
AW551984 |
T |
G |
9: 39,511,955 (GRCm39) |
S19R |
probably damaging |
Het |
Bet1l |
A |
G |
7: 140,434,418 (GRCm39) |
I77T |
possibly damaging |
Het |
Cfap206 |
T |
C |
4: 34,711,414 (GRCm39) |
I494M |
possibly damaging |
Het |
Cog3 |
A |
G |
14: 75,968,118 (GRCm39) |
I415T |
probably damaging |
Het |
Col15a1 |
C |
T |
4: 47,300,518 (GRCm39) |
P1060S |
probably damaging |
Het |
Ctrb1 |
A |
G |
8: 112,415,981 (GRCm39) |
V71A |
possibly damaging |
Het |
Ddhd2 |
T |
C |
8: 26,242,242 (GRCm39) |
Y211C |
probably benign |
Het |
Fbxl20 |
T |
C |
11: 98,000,336 (GRCm39) |
T128A |
probably benign |
Het |
Fdps |
A |
G |
3: 89,002,659 (GRCm39) |
|
probably null |
Het |
Gm4302 |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
10: 100,177,361 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
T |
A |
19: 11,489,200 (GRCm39) |
|
probably benign |
Het |
Grm6 |
T |
C |
11: 50,750,601 (GRCm39) |
V588A |
possibly damaging |
Het |
Heatr6 |
T |
C |
11: 83,649,167 (GRCm39) |
L174S |
probably benign |
Het |
Kif1a |
G |
A |
1: 92,993,859 (GRCm39) |
P364S |
probably damaging |
Het |
Klk7 |
A |
G |
7: 43,462,684 (GRCm39) |
D163G |
probably benign |
Het |
Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
T |
C |
1: 193,017,169 (GRCm39) |
S787P |
possibly damaging |
Het |
Lrp5 |
C |
T |
19: 3,650,753 (GRCm39) |
C1227Y |
probably damaging |
Het |
Mgst1 |
G |
A |
6: 138,118,805 (GRCm39) |
|
probably benign |
Het |
Mllt6 |
T |
C |
11: 97,571,428 (GRCm39) |
S1022P |
probably damaging |
Het |
Naalad2 |
T |
C |
9: 18,296,426 (GRCm39) |
T75A |
possibly damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,372,845 (GRCm39) |
I83N |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
Neurl4 |
T |
A |
11: 69,799,336 (GRCm39) |
L904Q |
probably damaging |
Het |
Ngp |
A |
C |
9: 110,249,017 (GRCm39) |
I30L |
probably benign |
Het |
Or5af1 |
T |
C |
11: 58,722,903 (GRCm39) |
Y308H |
probably benign |
Het |
Or6c5c |
G |
A |
10: 129,299,023 (GRCm39) |
M159I |
probably benign |
Het |
Orm2 |
A |
T |
4: 63,282,196 (GRCm39) |
M125L |
probably benign |
Het |
Pax2 |
A |
T |
19: 44,777,260 (GRCm39) |
D151V |
possibly damaging |
Het |
Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
Ppargc1b |
C |
A |
18: 61,440,747 (GRCm39) |
G724W |
probably damaging |
Het |
Pramel11 |
T |
A |
4: 143,622,252 (GRCm39) |
I368F |
probably benign |
Het |
Prss16 |
A |
T |
13: 22,190,237 (GRCm39) |
V307E |
probably damaging |
Het |
Prss54 |
T |
G |
8: 96,291,283 (GRCm39) |
|
probably null |
Het |
Rspo1 |
A |
G |
4: 124,900,976 (GRCm39) |
H108R |
probably benign |
Het |
Sh3bp5l |
C |
A |
11: 58,237,098 (GRCm39) |
H352N |
probably damaging |
Het |
Skor1 |
T |
C |
9: 63,047,636 (GRCm39) |
|
probably null |
Het |
Smad6 |
A |
G |
9: 63,919,509 (GRCm39) |
Y289H |
probably benign |
Het |
Spart |
G |
A |
3: 55,034,982 (GRCm39) |
G456D |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,923,924 (GRCm39) |
E799G |
probably damaging |
Het |
Tbc1d4 |
T |
G |
14: 101,845,695 (GRCm39) |
K68Q |
probably damaging |
Het |
Treml2 |
A |
G |
17: 48,616,247 (GRCm39) |
M296V |
probably benign |
Het |
Ugt2b1 |
C |
A |
5: 87,067,116 (GRCm39) |
D436Y |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,325,042 (GRCm39) |
|
probably null |
Homo |
Vmn2r6 |
T |
C |
3: 64,445,580 (GRCm39) |
Y626C |
probably damaging |
Het |
Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
Zfp131 |
A |
G |
13: 120,228,129 (GRCm39) |
V506A |
probably damaging |
Het |
Zfp74 |
A |
G |
7: 29,633,860 (GRCm39) |
I616T |
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 |
|
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 |
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'- GCATCTTCCAGGAACATCTGAAG -3'
(R):5'- GTGCTGGAATGTCAGGTTCC -3'
Sequencing Primer
(F):5'- TTCCAGGAACATCTGAAGCAACTG -3'
(R):5'- TCAGGTTCCTGGCAATGAGGC -3'
|
Posted On |
2018-08-29 |