Incidental Mutation 'R0010:Mcoln2'
| ID |
8170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcoln2
|
| Ensembl Gene |
ENSMUSG00000011008 |
| Gene Name |
mucolipin 2 |
| Synonyms |
TRPML2, 3300002C04Rik, mucolipidin 2 |
| MMRRC Submission |
038305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R0010 (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: 79.6%
- 3x: 70.9%
- 10x: 47.0%
- 20x: 26.4%
|
| Validation Efficiency |
91% (78/86) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
C |
T |
5: 81,940,250 (GRCm39) |
A1320V |
possibly damaging |
Het |
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,942,143 (GRCm39) |
H124L |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,161,696 (GRCm39) |
E270G |
probably benign |
Het |
| Cldnd1 |
T |
A |
16: 58,551,622 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,803,997 (GRCm39) |
L1112P |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,574,793 (GRCm39) |
L1016Q |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,493,881 (GRCm39) |
K16R |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,918,335 (GRCm39) |
I536V |
probably benign |
Het |
| Ginm1 |
T |
C |
10: 7,651,138 (GRCm39) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,767,622 (GRCm39) |
|
probably benign |
Het |
| Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
| Gm10320 |
T |
C |
13: 98,626,054 (GRCm39) |
Y110C |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,608,702 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,670,386 (GRCm39) |
T1476A |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,784,242 (GRCm39) |
K33R |
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,490,006 (GRCm39) |
|
probably benign |
Het |
| Nup133 |
A |
T |
8: 124,631,318 (GRCm39) |
I1072N |
probably damaging |
Het |
| Rock1 |
T |
A |
18: 10,084,380 (GRCm39) |
D951V |
probably damaging |
Het |
| Scgb2b26 |
T |
A |
7: 33,643,774 (GRCm39) |
E55D |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,911,454 (GRCm39) |
V958A |
probably damaging |
Het |
| Sgk1 |
G |
A |
10: 21,873,337 (GRCm39) |
|
probably null |
Het |
| Shprh |
C |
T |
10: 11,027,675 (GRCm39) |
T94I |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,771,082 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,045,509 (GRCm39) |
V1556I |
probably benign |
Het |
| Trappc14 |
T |
C |
5: 138,258,555 (GRCm39) |
|
probably null |
Het |
| Trappc4 |
G |
A |
9: 44,316,528 (GRCm39) |
|
probably benign |
Het |
| Txlna |
T |
G |
4: 129,522,879 (GRCm39) |
D487A |
probably benign |
Het |
| Ube2d2b |
T |
C |
5: 107,978,502 (GRCm39) |
F51S |
possibly damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,996,215 (GRCm39) |
T3234A |
probably damaging |
Het |
| Zbtb41 |
T |
G |
1: 139,351,268 (GRCm39) |
V127G |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,028,286 (GRCm39) |
|
probably benign |
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 |
|
R0039: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 |
2012-11-20 |
Incidental Mutation