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) question?
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

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: S276F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096125
Gene: ENSMUSG00000011008
AA Change: S276F

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 0.8701 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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