Incidental Mutation 'R0039:Mcoln2'
ID15682
Institutional Source Beutler Lab
Gene Symbol Mcoln2
Ensembl Gene ENSMUSG00000011008
Gene Namemucolipin 2
Synonymsmucolipidin 2, TRPML2, 3300002C04Rik
MMRRC Submission 038333-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #R0039 (G1)
Quality Score
Status Validated
Chromosome3
Chromosomal Location146149833-146195513 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 146183561 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 C T 12: 52,518,735 Q830* probably null Het
Atic A T 1: 71,577,850 E523V possibly damaging Het
Cass4 T A 2: 172,426,980 F329L probably damaging Het
Cdk17 A T 10: 93,226,778 probably benign Het
Cep120 C T 18: 53,685,961 R886H probably benign Het
Cep170 A C 1: 176,782,495 probably null Het
Dsg3 A G 18: 20,521,484 K82E probably benign Het
Dtd1 C T 2: 144,746,976 R185W probably damaging Het
Glt6d1 C A 2: 25,794,727 probably null Het
Hectd1 T G 12: 51,753,825 E2070A possibly damaging Het
Ifit1bl2 T A 19: 34,619,446 K257* probably null Het
Ighv8-5 T A 12: 115,067,587 T111S possibly damaging Het
Lmtk2 G T 5: 144,166,387 L321F probably damaging Het
Mfn1 T C 3: 32,538,267 probably benign Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Mroh8 T C 2: 157,229,929 H552R possibly damaging Het
Myh2 T A 11: 67,178,277 L304Q probably damaging Het
Prune1 T A 3: 95,262,367 T175S probably damaging Het
Rdh10 C T 1: 16,129,284 T238I probably damaging Het
Rlf T A 4: 121,146,842 H1647L possibly damaging Het
Rreb1 C T 13: 37,899,637 T92M probably damaging Het
Scn9a A T 2: 66,562,444 M268K probably damaging Het
Sec16a A G 2: 26,423,914 V1893A probably benign Het
Snd1 T A 6: 28,745,210 L518Q probably damaging Het
Stat1 T A 1: 52,140,660 V343D probably damaging Het
Topors A G 4: 40,262,772 S171P probably damaging Het
Tubd1 C T 11: 86,549,395 Q82* probably null Het
Unc13c A G 9: 73,669,565 probably benign Het
Wdr43 G T 17: 71,653,492 G590* probably null Het
Other mutations in Mcoln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Mcoln2 APN 3 146163527 splice site probably benign
IGL01370:Mcoln2 APN 3 146181830 missense possibly damaging 0.71
IGL01479:Mcoln2 APN 3 146175652 splice site probably benign
IGL02629:Mcoln2 APN 3 146170044 missense probably benign 0.28
R0010:Mcoln2 UTSW 3 146183561 missense probably damaging 0.99
R0010:Mcoln2 UTSW 3 146183561 missense probably damaging 0.99
R0039:Mcoln2 UTSW 3 146183561 missense probably damaging 0.99
R0044:Mcoln2 UTSW 3 146183561 missense probably damaging 0.99
R0044:Mcoln2 UTSW 3 146183561 missense probably damaging 0.99
R0109:Mcoln2 UTSW 3 146175718 missense probably damaging 1.00
R0458:Mcoln2 UTSW 3 146150013 unclassified probably benign
R1335:Mcoln2 UTSW 3 146180174 missense probably benign 0.00
R1440:Mcoln2 UTSW 3 146190382 nonsense probably null
R1452:Mcoln2 UTSW 3 146181814 missense possibly damaging 0.92
R1459:Mcoln2 UTSW 3 146192224 splice site probably null
R1510:Mcoln2 UTSW 3 146176610 missense probably benign 0.02
R1603:Mcoln2 UTSW 3 146180222 missense probably damaging 1.00
R1652:Mcoln2 UTSW 3 146163635 missense possibly damaging 0.48
R1718:Mcoln2 UTSW 3 146190474 splice site probably benign
R1826:Mcoln2 UTSW 3 146175472 missense possibly damaging 0.69
R4319:Mcoln2 UTSW 3 146150011 splice site probably null
R4719:Mcoln2 UTSW 3 146175713 missense probably benign 0.00
R4939:Mcoln2 UTSW 3 146192241 missense probably benign 0.07
R5475:Mcoln2 UTSW 3 146183786 missense probably damaging 1.00
R5718:Mcoln2 UTSW 3 146181826 missense probably damaging 1.00
R5906:Mcoln2 UTSW 3 146183741 missense probably damaging 1.00
R6911:Mcoln2 UTSW 3 146192256 missense probably damaging 1.00
R6963:Mcoln2 UTSW 3 146172035 missense probably damaging 1.00
R7142:Mcoln2 UTSW 3 146183569 critical splice donor site probably null
R7613:Mcoln2 UTSW 3 146175544 splice site probably null
R8076:Mcoln2 UTSW 3 146190414 missense probably damaging 1.00
R8077:Mcoln2 UTSW 3 146190414 missense probably damaging 1.00
R8271:Mcoln2 UTSW 3 146192424 missense unknown
Z1177:Mcoln2 UTSW 3 146175704 missense probably damaging 1.00
Posted On2012-12-21