Incidental Mutation 'R0039:Mcoln2'
| ID |
15682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcoln2
|
| Ensembl Gene |
ENSMUSG00000011008 |
| Gene Name |
mucolipin 2 |
| Synonyms |
TRPML2, 3300002C04Rik, mucolipidin 2 |
| MMRRC Submission |
038333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R0039 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
145855588-145901268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 145889316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 374
(T374M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011152]
[ENSMUST00000098524]
|
| AlphaFold |
Q8K595 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000011152
AA Change: T402M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000011152
Gene: ENSMUSG00000011008
AA Change: T402M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
292 |
314 |
N/A |
INTRINSIC |
|
transmembrane domain
|
340 |
362 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
370 |
513 |
5.8e-12 |
PFAM |
|
low complexity region
|
546 |
558 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098524
AA Change: T374M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096125
Gene: ENSMUSG00000011008
AA Change: T374M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
264 |
286 |
N/A |
INTRINSIC |
|
transmembrane domain
|
312 |
334 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
343 |
485 |
6.9e-11 |
PFAM |
|
low complexity region
|
518 |
530 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 82.5%
- 3x: 74.4%
- 10x: 54.3%
- 20x: 37.4%
|
| Validation Efficiency |
95% (60/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced chemokine production in bone marrow-derived macrophages and impaired recruitment of peripheral macrophages in response to i.p. injections of LPS or live bacteria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
C |
T |
12: 52,565,518 (GRCm39) |
Q830* |
probably null |
Het |
| Atic |
A |
T |
1: 71,617,009 (GRCm39) |
E523V |
possibly damaging |
Het |
| Cass4 |
T |
A |
2: 172,268,900 (GRCm39) |
F329L |
probably damaging |
Het |
| Cdk17 |
A |
T |
10: 93,062,640 (GRCm39) |
|
probably benign |
Het |
| Cep120 |
C |
T |
18: 53,819,033 (GRCm39) |
R886H |
probably benign |
Het |
| Cep170 |
A |
C |
1: 176,610,061 (GRCm39) |
|
probably null |
Het |
| Dsg3 |
A |
G |
18: 20,654,541 (GRCm39) |
K82E |
probably benign |
Het |
| Dtd1 |
C |
T |
2: 144,588,896 (GRCm39) |
R185W |
probably damaging |
Het |
| Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
T |
G |
12: 51,800,608 (GRCm39) |
E2070A |
possibly damaging |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,846 (GRCm39) |
K257* |
probably null |
Het |
| Ighv8-5 |
T |
A |
12: 115,031,207 (GRCm39) |
T111S |
possibly damaging |
Het |
| Lmtk2 |
G |
T |
5: 144,103,205 (GRCm39) |
L321F |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,592,416 (GRCm39) |
|
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mroh8 |
T |
C |
2: 157,071,849 (GRCm39) |
H552R |
possibly damaging |
Het |
| Myh2 |
T |
A |
11: 67,069,103 (GRCm39) |
L304Q |
probably damaging |
Het |
| Prune1 |
T |
A |
3: 95,169,678 (GRCm39) |
T175S |
probably damaging |
Het |
| Rdh10 |
C |
T |
1: 16,199,508 (GRCm39) |
T238I |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,004,039 (GRCm39) |
H1647L |
possibly damaging |
Het |
| Rreb1 |
C |
T |
13: 38,083,613 (GRCm39) |
T92M |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,392,788 (GRCm39) |
M268K |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,313,926 (GRCm39) |
V1893A |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,745,209 (GRCm39) |
L518Q |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,819 (GRCm39) |
V343D |
probably damaging |
Het |
| Topors |
A |
G |
4: 40,262,772 (GRCm39) |
S171P |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,440,221 (GRCm39) |
Q82* |
probably null |
Het |
| Unc13c |
A |
G |
9: 73,576,847 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
G |
T |
17: 71,960,487 (GRCm39) |
G590* |
probably null |
Het |
|
| Other mutations in Mcoln2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01309:Mcoln2
|
APN |
3 |
145,869,282 (GRCm39) |
splice site |
probably benign |
|
|
IGL01370:Mcoln2
|
APN |
3 |
145,887,585 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01479:Mcoln2
|
APN |
3 |
145,881,407 (GRCm39) |
splice site |
probably benign |
|
|
IGL02629:Mcoln2
|
APN |
3 |
145,875,799 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0010:Mcoln2
|
UTSW |
3 |
145,889,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0010:Mcoln2
|
UTSW |
3 |
145,889,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0039:Mcoln2
|
UTSW |
3 |
145,889,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0044:Mcoln2
|
UTSW |
3 |
145,889,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0044:Mcoln2
|
UTSW |
3 |
145,889,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0109:Mcoln2
|
UTSW |
3 |
145,881,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Mcoln2
|
UTSW |
3 |
145,855,768 (GRCm39) |
unclassified |
probably benign |
|
|
R1335:Mcoln2
|
UTSW |
3 |
145,885,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1440:Mcoln2
|
UTSW |
3 |
145,896,137 (GRCm39) |
nonsense |
probably null |
|
|
R1452:Mcoln2
|
UTSW |
3 |
145,887,569 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1459:Mcoln2
|
UTSW |
3 |
145,897,979 (GRCm39) |
splice site |
probably null |
|
|
R1510:Mcoln2
|
UTSW |
3 |
145,882,365 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1603:Mcoln2
|
UTSW |
3 |
145,885,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1652:Mcoln2
|
UTSW |
3 |
145,869,390 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1718:Mcoln2
|
UTSW |
3 |
145,896,229 (GRCm39) |
splice site |
probably benign |
|
|
R1826:Mcoln2
|
UTSW |
3 |
145,881,227 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4319:Mcoln2
|
UTSW |
3 |
145,855,766 (GRCm39) |
splice site |
probably null |
|
|
R4719:Mcoln2
|
UTSW |
3 |
145,881,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4939:Mcoln2
|
UTSW |
3 |
145,897,996 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5475:Mcoln2
|
UTSW |
3 |
145,889,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Mcoln2
|
UTSW |
3 |
145,887,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Mcoln2
|
UTSW |
3 |
145,889,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6911:Mcoln2
|
UTSW |
3 |
145,898,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6963:Mcoln2
|
UTSW |
3 |
145,877,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7142:Mcoln2
|
UTSW |
3 |
145,889,324 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7613:Mcoln2
|
UTSW |
3 |
145,881,299 (GRCm39) |
splice site |
probably null |
|
|
R8076:Mcoln2
|
UTSW |
3 |
145,896,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8077:Mcoln2
|
UTSW |
3 |
145,896,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Mcoln2
|
UTSW |
3 |
145,898,179 (GRCm39) |
missense |
unknown |
|
|
R9146:Mcoln2
|
UTSW |
3 |
145,869,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9319:Mcoln2
|
UTSW |
3 |
145,875,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mcoln2
|
UTSW |
3 |
145,881,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-21 |
Incidental Mutation