Mutagenetix > Incidental Mutation

Incidental Mutation 'R2056:Mcoln3'

228173

Institutional Source

Beutler Lab

Gene Symbol

Mcoln3

Ensembl Gene

ENSMUSG00000036853

Gene Name

mucolipin 3

Synonyms

Va, varitint-waddler, TRPML3, 6720490O21Rik

MMRRC Submission

040061-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R2056 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145823205-145847561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145833979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 173 (D173G)

Ref Sequence

ENSEMBL: ENSMUSP00000038801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039450] [ENSMUST00000140214]

AlphaFold

Q8R4F0

Predicted Effect

probably benign
Transcript: ENSMUST00000039450
AA Change: D173G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000038801
Gene: ENSMUSG00000036853
AA Change: D173G

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000140214

SMART Domains

Protein: ENSMUSP00000115655
Gene: ENSMUSG00000036853

Domain	Start	End	E-Value	Type
low complexity region	24	29	N/A	INTRINSIC
transmembrane domain	63	82	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,667,525 (GRCm39)	V129A	probably benign	Het
Adh1	A	G	3: 137,992,676 (GRCm39)	D264G	probably damaging	Het
Ahnak2	T	A	12: 112,748,626 (GRCm39)	D407V	probably benign	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,809,553 (GRCm39)	I662V	possibly damaging	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apc	A	G	18: 34,449,481 (GRCm39)	R2092G	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Brap	G	A	5: 121,801,529 (GRCm39)	G95S	probably damaging	Het
Cbfa2t2	G	A	2: 154,377,077 (GRCm39)	A587T	probably damaging	Het
Ccdc180	A	G	4: 45,932,477 (GRCm39)	I1308V	probably benign	Het
Ccser1	T	A	6: 61,399,936 (GRCm39)		probably null	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Cntln	G	A	4: 84,967,911 (GRCm39)	R710K	probably benign	Het
Csn1s1	A	T	5: 87,819,387 (GRCm39)	T15S	possibly damaging	Het
Cul9	T	C	17: 46,854,298 (GRCm39)	T135A	probably benign	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dhx38	G	T	8: 110,289,352 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,336,251 (GRCm39)	I85N	possibly damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dscaml1	A	G	9: 45,661,430 (GRCm39)	D1776G	probably damaging	Het
Erbin	A	G	13: 103,966,824 (GRCm39)	S1209P	probably benign	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fbxo45	G	T	16: 32,057,346 (GRCm39)	Q183K	possibly damaging	Het
Frmd4b	C	T	6: 97,389,448 (GRCm39)		probably null	Het
Fzd7	A	G	1: 59,523,361 (GRCm39)	S415G	probably benign	Het
Gpd2	T	A	2: 57,229,025 (GRCm39)		probably null	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gstcd	T	C	3: 132,787,814 (GRCm39)	I295V	probably benign	Het
Gucy1a1	A	G	3: 82,016,592 (GRCm39)	L132P	possibly damaging	Het
Il12b	A	C	11: 44,298,727 (GRCm39)	T61P	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Itih3	A	C	14: 30,631,481 (GRCm39)		probably null	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Kif11	A	G	19: 37,390,660 (GRCm39)	N408D	probably benign	Het
Kng2	TATGACCATGACCATGACCATGACCATGACCATGACCAT	TATGACCATGACCATGACCATGACCATGACCAT	16: 22,806,703 (GRCm39)		probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Krt9	G	T	11: 100,082,321 (GRCm39)	N201K	probably damaging	Het
Lmbr1	G	A	5: 29,438,092 (GRCm39)	P304L	probably benign	Het
Lrrfip1	A	G	1: 91,043,539 (GRCm39)	N648S	probably benign	Het
Mab21l3	C	A	3: 101,722,469 (GRCm39)	V386L	possibly damaging	Het
Mamdc4	T	C	2: 25,454,180 (GRCm39)	Q1149R	probably benign	Het
Mast1	A	G	8: 85,646,995 (GRCm39)	F677L	possibly damaging	Het
Mmrn1	C	T	6: 60,921,789 (GRCm39)	T82I	probably benign	Het
Mtcl2	C	T	2: 156,864,747 (GRCm39)	G1154S	probably benign	Het
Muc5ac	A	G	7: 141,345,772 (GRCm39)	T203A	probably benign	Het
Myo9b	T	C	8: 71,812,334 (GRCm39)	I2035T	possibly damaging	Het
Ndst3	T	C	3: 123,465,534 (GRCm39)	N146S	probably damaging	Het
Neu4	A	G	1: 93,950,172 (GRCm39)	T21A	possibly damaging	Het
Nos1ap	G	A	1: 170,155,215 (GRCm39)	L267F	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or3a4	A	T	11: 73,944,819 (GRCm39)	Y255*	probably null	Het
Or4p8	A	G	2: 88,727,105 (GRCm39)	F279L	probably damaging	Het
Phc1	T	C	6: 122,310,299 (GRCm39)	N136S	probably damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Psd2	A	G	18: 36,139,744 (GRCm39)	D596G	possibly damaging	Het
Psmc3	T	C	2: 90,888,433 (GRCm39)	F315L	probably benign	Het
Rerg	G	A	6: 137,034,878 (GRCm39)	T42I	probably benign	Het
Rif1	T	A	2: 51,983,588 (GRCm39)	M577K	probably damaging	Het
Sap30	T	C	8: 57,940,282 (GRCm39)		probably null	Het
Scn2b	T	C	9: 45,036,815 (GRCm39)	Y108H	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb2	T	C	1: 107,451,543 (GRCm39)	V232A	probably damaging	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Slc27a4	T	C	2: 29,700,953 (GRCm39)	W320R	probably damaging	Het
Spmip4	T	C	6: 50,550,725 (GRCm39)	R575G	possibly damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thbs4	T	A	13: 92,927,387 (GRCm39)	D34V	probably benign	Het
Tlcd4	T	G	3: 121,001,070 (GRCm39)	I188L	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmod2	T	C	9: 75,484,524 (GRCm39)	E248G	probably benign	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ttn	T	C	2: 76,615,882 (GRCm39)	D8360G	possibly damaging	Het
Unc80	A	G	1: 66,679,711 (GRCm39)	E2094G	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,160 (GRCm39)	D321E	probably damaging	Het

Other mutations in Mcoln3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AAGGGCTATCATGGCTTTGC -3'
(R):5'- CGGTTCACTATAGAAGTTGGCACG -3'

Sequencing Primer
(F):5'- TGGCTGGCACCCCTTTG -3'
(R):5'- GAAGTTGGCACGTAAGAACTTTTG -3'

Posted On

2014-09-17