Incidental Mutation 'R4319:Mcoln2'
| ID |
324127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcoln2
|
| Ensembl Gene |
ENSMUSG00000011008 |
| Gene Name |
mucolipin 2 |
| Synonyms |
TRPML2, 3300002C04Rik, mucolipidin 2 |
| MMRRC Submission |
041660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4319 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
145855588-145901268 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 145855766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011152]
[ENSMUST00000098524]
|
| AlphaFold |
Q8K595 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000011152
|
| SMART Domains |
Protein: ENSMUSP00000011152
Gene: ENSMUSG00000011008
| 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
|
| SMART Domains |
Protein: ENSMUSP00000096125
Gene: ENSMUSG00000011008
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
94% (31/33) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cacna1c |
A |
C |
6: 118,631,330 (GRCm39) |
I1148S |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,374,909 (GRCm39) |
H1385P |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,555,798 (GRCm39) |
H545R |
probably damaging |
Het |
| Dgkb |
A |
G |
12: 38,488,598 (GRCm39) |
I655V |
probably damaging |
Het |
| Gm2663 |
G |
T |
6: 40,974,530 (GRCm39) |
Q87K |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,373,033 (GRCm39) |
V84A |
probably damaging |
Het |
| Klf2 |
A |
G |
8: 73,074,005 (GRCm39) |
T270A |
probably benign |
Het |
| Lemd2 |
A |
G |
17: 27,420,651 (GRCm39) |
M254T |
possibly damaging |
Het |
| Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,030,946 (GRCm39) |
E71G |
probably damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Pygb |
G |
T |
2: 150,657,534 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spty2d1 |
T |
C |
7: 46,647,883 (GRCm39) |
S349G |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,358,578 (GRCm39) |
V657D |
probably damaging |
Het |
| Tspo2 |
G |
T |
17: 48,756,871 (GRCm39) |
|
probably benign |
Het |
| Ufsp2 |
A |
G |
8: 46,448,664 (GRCm39) |
T422A |
possibly damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Wdr46 |
A |
G |
17: 34,159,718 (GRCm39) |
T3A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATAAGGGCGTCCACTCCACC -3'
(R):5'- CCCAAATGAAAGCCTTAGGGG -3'
Sequencing Primer
(F):5'- GTCCACTCCACCTGCATCTCG -3'
(R):5'- CTTTGCGGAAAAGCGGCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation