Incidental Mutation 'R6638:Mtmr2'
| ID |
525585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr2
|
| Ensembl Gene |
ENSMUSG00000031918 |
| Gene Name |
myotubularin related protein 2 |
| Synonyms |
6030445P13Rik |
| MMRRC Submission |
044759-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.653)
|
| Stock # |
R6638 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
13659706-13717777 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 13707429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 327
(A327E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034396]
[ENSMUST00000134674]
[ENSMUST00000152532]
[ENSMUST00000155679]
|
| AlphaFold |
Q9Z2D1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034396
AA Change: A327E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034396
Gene: ENSMUSG00000031918
AA Change: A327E
| 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 damaging
Transcript: ENSMUST00000155679
AA Change: A255E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115906
Gene: ENSMUSG00000031918
AA Change: A255E
| 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: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,451,521 (GRCm39) |
N868K |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,746,696 (GRCm39) |
S980P |
probably damaging |
Het |
| Dlk1 |
A |
G |
12: 109,426,204 (GRCm39) |
E95G |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,012,263 (GRCm39) |
|
probably null |
Het |
| Dppa2 |
A |
T |
16: 48,134,523 (GRCm39) |
H118L |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,463 (GRCm39) |
S740P |
probably damaging |
Het |
| Eva1b |
T |
C |
4: 126,043,265 (GRCm39) |
S102P |
probably benign |
Het |
| Fndc3a |
G |
A |
14: 72,796,688 (GRCm39) |
R637* |
probably null |
Het |
| Fras1 |
A |
T |
5: 96,905,953 (GRCm39) |
D3119V |
possibly damaging |
Het |
| Hmgcr |
T |
C |
13: 96,795,490 (GRCm39) |
T360A |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,850,610 (GRCm39) |
V1017A |
probably damaging |
Het |
| Lats2 |
A |
G |
14: 57,936,822 (GRCm39) |
S556P |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,840,940 (GRCm39) |
F1366S |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or9r3 |
T |
C |
10: 129,947,739 (GRCm39) |
T307A |
probably benign |
Het |
| Ovch2 |
A |
T |
7: 107,388,301 (GRCm39) |
H426Q |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,301,382 (GRCm39) |
V1506E |
probably damaging |
Het |
| Poldip3 |
A |
T |
15: 83,017,401 (GRCm39) |
S225T |
probably damaging |
Het |
| Polr3h |
A |
G |
15: 81,802,505 (GRCm39) |
L108P |
possibly damaging |
Het |
| Prss44 |
G |
A |
9: 110,646,271 (GRCm39) |
V333M |
probably damaging |
Het |
| Ptprk |
C |
T |
10: 28,471,807 (GRCm39) |
R1432C |
probably damaging |
Het |
| Rpl36al |
A |
G |
12: 69,229,708 (GRCm39) |
L68P |
probably damaging |
Het |
| Tagap |
T |
C |
17: 8,145,906 (GRCm39) |
S26P |
possibly damaging |
Het |
| Vapb |
A |
G |
2: 173,613,362 (GRCm39) |
K87R |
probably damaging |
Het |
| Vmn1r35 |
G |
A |
6: 66,655,848 (GRCm39) |
T274I |
possibly damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,700,785 (GRCm39) |
|
probably benign |
Het |
| Xrcc5 |
C |
T |
1: 72,422,521 (GRCm39) |
S651L |
possibly damaging |
Het |
| Zfyve27 |
T |
A |
19: 42,169,936 (GRCm39) |
|
probably null |
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 |
|
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'- TGTCACCATGTCCTTTCATGAAG -3'
(R):5'- TGCAGTCTATCAGTTTAGCTCAC -3'
Sequencing Primer
(F):5'- CATGAAGGTTTTATCCTGGATTCATC -3'
(R):5'- CTATCAGTTTAGCTCACAAGAAGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation