Incidental Mutation 'R4366:Mcoln3'
ID 325738
Institutional Source Beutler Lab
Gene Symbol Mcoln3
Ensembl Gene ENSMUSG00000036853
Gene Name mucolipin 3
Synonyms Va, varitint-waddler, TRPML3, 6720490O21Rik
MMRRC Submission 041114-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R4366 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 145823205-145847561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 145846247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 519 (T519K)
Ref Sequence ENSEMBL: ENSMUSP00000038801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039450]
AlphaFold Q8R4F0
Predicted Effect possibly damaging
Transcript: ENSMUST00000039450
AA Change: T519K

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038801
Gene: ENSMUSG00000036853
AA Change: T519K

DomainStartEndE-ValueType
low complexity region 24 29 N/A INTRINSIC
transmembrane domain 286 308 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Pfam:PKD_channel 360 508 3.5e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146689
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 95% (57/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Heterozygotes show normal/diluted/white hair patches, circling, hyperactivity, deafness, and reduced fertility. Homozygotes are white with small patches of color and show severe behavioral abnormalities, poor postnatal viability and are nearly infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 A C 17: 43,752,860 (GRCm39) T396P probably damaging Het
Apob A T 12: 8,066,083 (GRCm39) I4318F possibly damaging Het
Apol7c T G 15: 77,410,589 (GRCm39) D119A probably benign Het
App G T 16: 84,853,321 (GRCm39) D252E unknown Het
C4a T A 17: 35,033,885 (GRCm39) noncoding transcript Het
Cacna1b T C 2: 24,592,632 (GRCm39) Y515C probably damaging Het
Cacna1f G T X: 7,476,213 (GRCm39) A123S probably damaging Het
Cldn6 G C 17: 23,900,494 (GRCm39) A153P probably benign Het
Cmya5 T C 13: 93,228,464 (GRCm39) N2208S probably benign Het
Csnk1g1 A G 9: 65,927,135 (GRCm39) T101A probably benign Het
Ddx46 T A 13: 55,811,049 (GRCm39) D544E probably benign Het
Dmxl1 T A 18: 50,011,084 (GRCm39) C1080* probably null Het
Dst T C 1: 34,290,959 (GRCm39) S3335P probably damaging Het
Efnb3 T C 11: 69,446,771 (GRCm39) K313R probably damaging Het
Elf2 G A 3: 51,215,570 (GRCm39) Q47* probably null Het
Epc2 A G 2: 49,437,566 (GRCm39) K657E possibly damaging Het
Ephx4 A G 5: 107,551,679 (GRCm39) probably benign Het
Ereg T C 5: 91,234,659 (GRCm39) I24T probably benign Het
Evc2 C A 5: 37,496,013 (GRCm39) A41D possibly damaging Het
Fkbp15 A G 4: 62,254,651 (GRCm39) V283A probably benign Het
Flrt3 T C 2: 140,502,327 (GRCm39) T434A probably damaging Het
Gm572 A G 4: 148,739,322 (GRCm39) D50G possibly damaging Het
Hecw1 C T 13: 14,490,749 (GRCm39) D748N probably damaging Het
Hivep3 A C 4: 119,953,286 (GRCm39) H534P possibly damaging Het
Hspa4l C A 3: 40,721,241 (GRCm39) probably null Het
Ipo7 T C 7: 109,628,919 (GRCm39) M63T possibly damaging Het
Ipo7 A T 7: 109,647,423 (GRCm39) T614S possibly damaging Het
Krt87 T G 15: 101,385,395 (GRCm39) M326L probably benign Het
Mbd5 T A 2: 49,162,978 (GRCm39) N261K probably damaging Het
Mcam T A 9: 44,045,994 (GRCm39) L3Q probably damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mrgprx1 C A 7: 47,670,941 (GRCm39) A269S probably damaging Het
Mypn T C 10: 63,028,487 (GRCm39) E192G probably benign Het
Nup205 C A 6: 35,168,962 (GRCm39) P397Q probably benign Het
Obsl1 A C 1: 75,464,693 (GRCm39) L1576R possibly damaging Het
Ofcc1 A G 13: 40,168,937 (GRCm39) S817P probably benign Het
Or6c210 A T 10: 129,496,400 (GRCm39) M242L probably benign Het
Or8b12c A T 9: 37,715,486 (GRCm39) H93L probably benign Het
Pcdhgb7 A G 18: 37,887,125 (GRCm39) Y765C possibly damaging Het
Pde7a A G 3: 19,365,026 (GRCm39) probably null Het
Phip C T 9: 82,782,922 (GRCm39) probably benign Het
Rhbdl2 T A 4: 123,703,728 (GRCm39) M1K probably null Het
Ripor2 C T 13: 24,905,694 (GRCm39) P947S probably benign Het
Sf3a3 A G 4: 124,618,932 (GRCm39) T298A probably benign Het
Slc25a29 C T 12: 108,797,097 (GRCm39) probably benign Het
Spinkl T G 18: 44,307,650 (GRCm39) T4P possibly damaging Het
Stk33 G A 7: 108,879,002 (GRCm39) S449L probably benign Het
Suz12 T A 11: 79,892,988 (GRCm39) probably benign Het
Timp2 T A 11: 118,201,497 (GRCm39) I124F probably damaging Het
Tlr1 C T 5: 65,083,180 (GRCm39) D466N probably benign Het
Tmem200b A G 4: 131,649,781 (GRCm39) I234V possibly damaging Het
Ubr1 C A 2: 120,801,084 (GRCm39) probably benign Het
Usp33 C A 3: 152,074,149 (GRCm39) Q332K probably benign Het
Zfr A G 15: 12,156,416 (GRCm39) E634G probably damaging Het
Other mutations in Mcoln3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Mcoln3 APN 3 145,839,683 (GRCm39) missense probably damaging 1.00
IGL01106:Mcoln3 APN 3 145,843,019 (GRCm39) missense probably benign 0.01
IGL01712:Mcoln3 APN 3 145,834,019 (GRCm39) unclassified probably benign
IGL02115:Mcoln3 APN 3 145,843,056 (GRCm39) missense probably damaging 0.99
IGL02116:Mcoln3 APN 3 145,839,664 (GRCm39) missense probably benign 0.29
P4717OSA:Mcoln3 UTSW 3 145,830,504 (GRCm39) missense probably damaging 0.99
R0463:Mcoln3 UTSW 3 145,846,331 (GRCm39) nonsense probably null
R1981:Mcoln3 UTSW 3 145,846,345 (GRCm39) nonsense probably null
R2056:Mcoln3 UTSW 3 145,833,979 (GRCm39) missense probably benign 0.01
R3000:Mcoln3 UTSW 3 145,839,662 (GRCm39) missense possibly damaging 0.62
R4667:Mcoln3 UTSW 3 145,836,959 (GRCm39) missense probably benign 0.01
R4950:Mcoln3 UTSW 3 145,845,274 (GRCm39) missense probably damaging 0.96
R5457:Mcoln3 UTSW 3 145,833,877 (GRCm39) missense probably benign 0.00
R6302:Mcoln3 UTSW 3 145,830,527 (GRCm39) missense probably benign 0.00
R6353:Mcoln3 UTSW 3 145,836,909 (GRCm39) missense probably damaging 0.99
R6632:Mcoln3 UTSW 3 145,833,942 (GRCm39) missense probably benign
R6915:Mcoln3 UTSW 3 145,843,011 (GRCm39) critical splice acceptor site probably null
R7790:Mcoln3 UTSW 3 145,845,247 (GRCm39) missense probably damaging 1.00
R7838:Mcoln3 UTSW 3 145,845,230 (GRCm39) missense probably damaging 1.00
R7861:Mcoln3 UTSW 3 145,830,546 (GRCm39) missense possibly damaging 0.95
R8348:Mcoln3 UTSW 3 145,836,974 (GRCm39) missense probably damaging 1.00
R8509:Mcoln3 UTSW 3 145,830,647 (GRCm39) missense probably benign 0.00
R8708:Mcoln3 UTSW 3 145,846,276 (GRCm39) nonsense probably null
R8838:Mcoln3 UTSW 3 145,845,126 (GRCm39) missense probably damaging 1.00
R8861:Mcoln3 UTSW 3 145,845,159 (GRCm39) missense probably damaging 1.00
R8981:Mcoln3 UTSW 3 145,827,554 (GRCm39) missense probably benign
Z1176:Mcoln3 UTSW 3 145,846,221 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTACTGCAGAGTCTCAGGAC -3'
(R):5'- GTTGCGTGATCACAAATAATCTCTGG -3'

Sequencing Primer
(F):5'- GCAGAGTCTCAGGACCATTTAACTTC -3'
(R):5'- GTGATCACAAATAATCTCTGGCTCAG -3'
Posted On 2015-07-06