Incidental Mutation 'R6353:Mcoln3'
ID 512285
Institutional Source Beutler Lab
Gene Symbol Mcoln3
Ensembl Gene ENSMUSG00000036853
Gene Name mucolipin 3
Synonyms Va, varitint-waddler, TRPML3, 6720490O21Rik
MMRRC Submission 044505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R6353 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 145823205-145847561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 145836909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 247 (F247S)
Ref Sequence ENSEMBL: ENSMUSP00000038801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039450]
AlphaFold Q8R4F0
Predicted Effect probably damaging
Transcript: ENSMUST00000039450
AA Change: F247S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038801
Gene: ENSMUSG00000036853
AA Change: F247S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik C A 9: 53,325,642 (GRCm39) Q60K probably benign Het
Aadacl2fm2 A T 3: 59,659,529 (GRCm39) L327F probably damaging Het
Aamp T C 1: 74,319,987 (GRCm39) D397G probably benign Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Acta1 T C 8: 124,620,426 (GRCm39) E4G probably benign Het
Apob A T 12: 8,059,421 (GRCm39) K2601N probably damaging Het
Arpin C A 7: 79,585,093 (GRCm39) probably benign Het
Asnsd1 T C 1: 53,386,938 (GRCm39) I230V probably benign Het
Baiap2l1 C T 5: 144,218,898 (GRCm39) E237K possibly damaging Het
Chek1 T C 9: 36,635,255 (GRCm39) K43E probably benign Het
Clec2g T A 6: 128,959,895 (GRCm39) probably null Het
Cnot10 A G 9: 114,426,614 (GRCm39) L646P probably damaging Het
Cyp2j9 T C 4: 96,474,135 (GRCm39) T102A probably benign Het
Dnase1l2 A T 17: 24,661,219 (GRCm39) L30Q probably damaging Het
Edc3 T C 9: 57,623,520 (GRCm39) S152P probably benign Het
Gask1b A T 3: 79,848,647 (GRCm39) R464S probably damaging Het
Gpr160 A T 3: 30,950,171 (GRCm39) D81V probably damaging Het
Intu A T 3: 40,608,138 (GRCm39) D32V probably damaging Het
Itga5 T C 15: 103,260,950 (GRCm39) E512G probably damaging Het
Khnyn T C 14: 56,131,760 (GRCm39) F561L possibly damaging Het
Kmt2e T A 5: 23,698,243 (GRCm39) V645E probably damaging Het
Nek9 G A 12: 85,348,603 (GRCm39) T977I probably damaging Het
Nphs1 A G 7: 30,173,969 (GRCm39) T1015A probably damaging Het
Ntmt2 A G 1: 163,531,680 (GRCm39) Y158H possibly damaging Het
Nudcd1 T C 15: 44,284,158 (GRCm39) Y76C probably damaging Het
Or2a54 C A 6: 43,093,070 (GRCm39) Y131* probably null Het
Or8b44 T C 9: 38,410,112 (GRCm39) I49T probably benign Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Prl7c1 A G 13: 27,957,709 (GRCm39) S244P possibly damaging Het
Rpap1 G T 2: 119,607,377 (GRCm39) probably null Het
Rrp8 G A 7: 105,383,325 (GRCm39) R314* probably null Het
Smarca4 T A 9: 21,590,445 (GRCm39) probably null Het
Stambpl1 A G 19: 34,211,520 (GRCm39) probably null Het
Tmeff2 T C 1: 51,220,985 (GRCm39) V320A probably damaging Het
Top2b A G 14: 16,416,671 (GRCm38) K83E probably damaging Het
Ttc39b C G 4: 83,148,730 (GRCm39) V560L probably benign Het
Ttn A T 2: 76,672,153 (GRCm39) probably benign Het
Usp32 T C 11: 84,913,107 (GRCm39) I934V probably benign Het
Uxs1 T C 1: 43,836,410 (GRCm39) I122V probably damaging Het
Vmn1r168 A G 7: 23,240,944 (GRCm39) N267S probably benign Het
Vmn2r16 A G 5: 109,488,119 (GRCm39) N331D probably benign 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
R4366:Mcoln3 UTSW 3 145,846,247 (GRCm39) missense possibly damaging 0.76
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
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'- TGCATCCTAGAAACACGTGG -3'
(R):5'- ACATCCTGCGGGTAGTAATG -3'

Sequencing Primer
(F):5'- TCAGTGTTATCACCTCACAGAG -3'
(R):5'- ACATCCTGCGGGTAGTAATGTGATG -3'
Posted On 2018-04-27