Incidental Mutation 'IGL02629:Mcoln2'
ID |
301211 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mcoln2
|
Ensembl Gene |
ENSMUSG00000011008 |
Gene Name |
mucolipin 2 |
Synonyms |
TRPML2, 3300002C04Rik, mucolipidin 2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
IGL02629
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
145855588-145901268 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 145875799 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 89
(Y89C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096125
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011152]
[ENSMUST00000098524]
|
AlphaFold |
Q8K595 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000011152
AA Change: Y117C
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000011152 Gene: ENSMUSG00000011008 AA Change: Y117C
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 benign
Transcript: ENSMUST00000098524
AA Change: Y89C
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000096125 Gene: ENSMUSG00000011008 AA Change: Y89C
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169533
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,445,006 (GRCm39) |
|
probably benign |
Het |
Aadacl3 |
A |
G |
4: 144,190,199 (GRCm39) |
I34T |
possibly damaging |
Het |
Acan |
T |
A |
7: 78,761,727 (GRCm39) |
I1979N |
possibly damaging |
Het |
Ankrd27 |
A |
G |
7: 35,325,121 (GRCm39) |
D701G |
probably benign |
Het |
Arhgap31 |
C |
T |
16: 38,429,526 (GRCm39) |
G450S |
probably benign |
Het |
Braf |
T |
C |
6: 39,665,233 (GRCm39) |
E45G |
possibly damaging |
Het |
Btnl6 |
C |
T |
17: 34,733,442 (GRCm39) |
V178M |
probably damaging |
Het |
Capg |
A |
T |
6: 72,532,737 (GRCm39) |
Q67L |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,736,525 (GRCm39) |
N663S |
probably damaging |
Het |
Casz1 |
T |
A |
4: 149,028,848 (GRCm39) |
S1098T |
probably benign |
Het |
Cd55b |
A |
T |
1: 130,347,535 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,384,531 (GRCm39) |
L2583P |
probably damaging |
Het |
Clec4a1 |
A |
C |
6: 122,909,106 (GRCm39) |
|
probably null |
Het |
Corin |
T |
C |
5: 72,490,016 (GRCm39) |
N653S |
probably damaging |
Het |
Dhx36 |
T |
C |
3: 62,414,155 (GRCm39) |
E69G |
probably benign |
Het |
Dpy19l1 |
C |
A |
9: 24,350,009 (GRCm39) |
|
probably benign |
Het |
Fam184a |
T |
C |
10: 53,574,907 (GRCm39) |
N234S |
possibly damaging |
Het |
Foxg1 |
A |
G |
12: 49,432,331 (GRCm39) |
S355G |
probably benign |
Het |
Fsd1l |
T |
C |
4: 53,686,417 (GRCm39) |
S277P |
probably damaging |
Het |
Hadh |
T |
A |
3: 131,029,284 (GRCm39) |
D245V |
probably damaging |
Het |
Jag2 |
G |
A |
12: 112,878,134 (GRCm39) |
|
probably benign |
Het |
Klhl18 |
A |
T |
9: 110,259,006 (GRCm39) |
|
probably benign |
Het |
Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
Mug1 |
A |
T |
6: 121,817,024 (GRCm39) |
Y31F |
possibly damaging |
Het |
Ndufb5 |
A |
G |
3: 32,791,348 (GRCm39) |
T32A |
probably benign |
Het |
Nub1 |
C |
T |
5: 24,908,462 (GRCm39) |
H404Y |
possibly damaging |
Het |
Nudt6 |
A |
G |
3: 37,459,320 (GRCm39) |
Y222H |
probably benign |
Het |
Or4x6 |
A |
T |
2: 89,949,201 (GRCm39) |
L247* |
probably null |
Het |
Pla2g4c |
A |
T |
7: 13,069,302 (GRCm39) |
R159* |
probably null |
Het |
Pnpla7 |
A |
G |
2: 24,940,957 (GRCm39) |
D1103G |
probably damaging |
Het |
Pof1b |
T |
G |
X: 111,554,934 (GRCm39) |
|
probably benign |
Het |
Prrg2 |
C |
T |
7: 44,706,166 (GRCm39) |
|
probably null |
Het |
Rab3gap1 |
A |
G |
1: 127,837,600 (GRCm39) |
T221A |
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,526,541 (GRCm39) |
N1244D |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rnf123 |
A |
T |
9: 107,947,988 (GRCm39) |
|
probably benign |
Het |
Rnf44 |
T |
G |
13: 54,830,875 (GRCm39) |
Q207P |
possibly damaging |
Het |
Serpina3g |
A |
G |
12: 104,207,437 (GRCm39) |
D200G |
probably damaging |
Het |
Slc5a4a |
T |
A |
10: 75,983,413 (GRCm39) |
S17T |
unknown |
Het |
Smc4 |
G |
T |
3: 68,933,206 (GRCm39) |
C609F |
probably damaging |
Het |
Sync |
T |
C |
4: 129,187,744 (GRCm39) |
F259L |
probably damaging |
Het |
Tas2r113 |
T |
C |
6: 132,870,299 (GRCm39) |
L109P |
probably damaging |
Het |
Tjp2 |
C |
A |
19: 24,099,743 (GRCm39) |
|
probably benign |
Het |
Tmem30a |
C |
A |
9: 79,683,531 (GRCm39) |
|
probably benign |
Het |
Unc80 |
T |
C |
1: 66,522,476 (GRCm39) |
V226A |
possibly damaging |
Het |
Upk2 |
A |
T |
9: 44,365,436 (GRCm39) |
L44Q |
probably damaging |
Het |
Usp42 |
T |
C |
5: 143,708,909 (GRCm39) |
Y203C |
possibly damaging |
Het |
Vmn1r28 |
A |
T |
6: 58,242,801 (GRCm39) |
I215F |
probably benign |
Het |
Zswim2 |
A |
G |
2: 83,755,553 (GRCm39) |
V116A |
possibly damaging |
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 |
|
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 |
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 |
2015-04-16 |