Incidental Mutation 'R1603:Mcoln2'
ID |
176241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcoln2
|
Ensembl Gene |
ENSMUSG00000011008 |
Gene Name |
mucolipin 2 |
Synonyms |
TRPML2, 3300002C04Rik, mucolipidin 2 |
MMRRC Submission |
039640-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R1603 (G1)
|
Quality Score |
109 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
145855588-145901268 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 145885977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 276
(S276F)
|
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: S304F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000011152 Gene: ENSMUSG00000011008 AA Change: S304F
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: S276F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096125 Gene: ENSMUSG00000011008 AA Change: S276F
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 |
0.8701 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
Validation Efficiency |
96% (65/68) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
G |
A |
3: 68,777,546 (GRCm39) |
S169N |
probably benign |
Het |
Ace |
T |
A |
11: 105,862,925 (GRCm39) |
S315R |
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,333,767 (GRCm39) |
I1491V |
probably benign |
Het |
Adrb2 |
A |
T |
18: 62,312,579 (GRCm39) |
M82K |
probably damaging |
Het |
Aebp2 |
A |
G |
6: 140,587,979 (GRCm39) |
N350D |
probably damaging |
Het |
Ankrd42 |
T |
C |
7: 92,268,899 (GRCm39) |
|
probably benign |
Het |
Asap1 |
A |
T |
15: 64,001,106 (GRCm39) |
C492S |
probably damaging |
Het |
Atp8b3 |
C |
A |
10: 80,361,619 (GRCm39) |
A768S |
probably benign |
Het |
Chga |
T |
A |
12: 102,530,866 (GRCm39) |
|
probably null |
Het |
Clca4b |
A |
G |
3: 144,627,780 (GRCm39) |
V397A |
probably benign |
Het |
Cntnap5a |
A |
C |
1: 116,339,831 (GRCm39) |
T697P |
possibly damaging |
Het |
Col12a1 |
T |
C |
9: 79,520,244 (GRCm39) |
Q2810R |
probably damaging |
Het |
Dchs1 |
G |
T |
7: 105,411,977 (GRCm39) |
R1380S |
probably benign |
Het |
Dgkg |
T |
A |
16: 22,388,909 (GRCm39) |
|
probably benign |
Het |
Dlgap3 |
G |
A |
4: 127,089,021 (GRCm39) |
G206R |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,295,131 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,449,326 (GRCm39) |
I4243L |
probably benign |
Het |
Eif1ad16 |
C |
A |
12: 87,985,134 (GRCm39) |
E136D |
probably benign |
Het |
Fbxw22 |
G |
T |
9: 109,207,915 (GRCm39) |
P452H |
probably benign |
Het |
Fgl1 |
T |
A |
8: 41,650,055 (GRCm39) |
D242V |
probably damaging |
Het |
Gba2 |
C |
T |
4: 43,567,823 (GRCm39) |
G794R |
probably damaging |
Het |
Gimap7 |
A |
T |
6: 48,700,864 (GRCm39) |
D150V |
probably damaging |
Het |
Gm5334 |
T |
C |
7: 68,268,620 (GRCm39) |
V13A |
probably benign |
Het |
Grk5 |
T |
C |
19: 61,057,800 (GRCm39) |
F167L |
probably benign |
Het |
Ice1 |
A |
G |
13: 70,751,472 (GRCm39) |
L1538P |
probably benign |
Het |
Idh2 |
T |
G |
7: 79,748,906 (GRCm39) |
E125A |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,752,858 (GRCm39) |
|
probably null |
Het |
Kras |
A |
T |
6: 145,170,871 (GRCm39) |
L168* |
probably null |
Het |
Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
Mak |
T |
C |
13: 41,195,582 (GRCm39) |
D377G |
possibly damaging |
Het |
Matn2 |
T |
C |
15: 34,388,914 (GRCm39) |
C335R |
probably damaging |
Het |
Morc3 |
C |
A |
16: 93,663,391 (GRCm39) |
N531K |
probably benign |
Het |
Obp2a |
G |
A |
2: 25,592,757 (GRCm39) |
S175N |
probably benign |
Het |
Or2ak6 |
T |
C |
11: 58,593,286 (GRCm39) |
V253A |
probably benign |
Het |
Or4n4b |
T |
G |
14: 50,536,491 (GRCm39) |
I92L |
possibly damaging |
Het |
Or5an1b |
A |
T |
19: 12,299,348 (GRCm39) |
V281E |
probably damaging |
Het |
Osbpl3 |
C |
A |
6: 50,300,073 (GRCm39) |
K510N |
probably damaging |
Het |
Pcnx2 |
G |
A |
8: 126,566,365 (GRCm39) |
S1026F |
probably damaging |
Het |
Pom121l2 |
A |
T |
13: 22,167,514 (GRCm39) |
D595V |
probably damaging |
Het |
Poteg |
T |
A |
8: 27,938,033 (GRCm39) |
M1K |
probably null |
Het |
Rbl1 |
G |
A |
2: 157,017,579 (GRCm39) |
L547F |
possibly damaging |
Het |
Rpap3 |
T |
C |
15: 97,599,002 (GRCm39) |
T82A |
possibly damaging |
Het |
Sema7a |
G |
A |
9: 57,867,959 (GRCm39) |
D512N |
probably benign |
Het |
Sgpl1 |
C |
T |
10: 60,941,230 (GRCm39) |
V294M |
possibly damaging |
Het |
Slc22a28 |
A |
G |
19: 8,040,674 (GRCm39) |
S526P |
probably damaging |
Het |
Spata31e2 |
T |
A |
1: 26,724,650 (GRCm39) |
R177W |
probably damaging |
Het |
Tent2 |
G |
A |
13: 93,312,073 (GRCm39) |
A209V |
probably benign |
Het |
Trim30b |
T |
G |
7: 104,015,019 (GRCm39) |
Q123P |
possibly damaging |
Het |
Trpm5 |
A |
G |
7: 142,638,946 (GRCm39) |
L275P |
probably benign |
Het |
Ttc33 |
A |
G |
15: 5,219,275 (GRCm39) |
E71G |
probably damaging |
Het |
Unc13d |
T |
C |
11: 115,964,481 (GRCm39) |
T288A |
possibly damaging |
Het |
Unc93a |
T |
A |
17: 13,328,521 (GRCm39) |
E444V |
probably benign |
Het |
Usf3 |
T |
A |
16: 44,038,535 (GRCm39) |
M1005K |
probably benign |
Het |
Vmn2r91 |
T |
C |
17: 18,326,405 (GRCm39) |
I230T |
probably benign |
Het |
Wdr49 |
G |
A |
3: 75,304,177 (GRCm39) |
Q448* |
probably null |
Het |
Zfp939 |
T |
A |
7: 39,122,695 (GRCm39) |
|
noncoding transcript |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGCCGCTTTAACAAGAGAAAGGG -3'
(R):5'- CGCTTGAGAGATCACCACAAATACCTG -3'
Sequencing Primer
(F):5'- GGGGTCTTTCCCTTGAATTTCC -3'
(R):5'- caggttggagtaggtgtgg -3'
|
Posted On |
2014-04-24 |