Mutagenetix > Incidental Mutation

Incidental Mutation 'R0458:Mcoln2'

41288

Institutional Source

Beutler Lab

Gene Symbol

Mcoln2

Ensembl Gene

ENSMUSG00000011008

Gene Name

mucolipin 2

Synonyms

TRPML2, 3300002C04Rik, mucolipidin 2

MMRRC Submission

038658-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R0458 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

145855588-145901268 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 145855768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011152] [ENSMUST00000098524]

AlphaFold

Q8K595

Predicted Effect

probably benign
Transcript: ENSMUST00000011152

SMART Domains

Protein: ENSMUSP00000011152
Gene: ENSMUSG00000011008

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000098524

SMART Domains

Protein: ENSMUSP00000096125
Gene: ENSMUSG00000011008

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169533

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	A	G	1: 85,856,747 (GRCm39)	E8G	unknown	Het
9130008F23Rik	T	C	17: 41,191,127 (GRCm39)	T101A	probably benign	Het
Abcb8	C	T	5: 24,611,231 (GRCm39)	T455I	probably benign	Het
Abcb9	C	A	5: 124,220,209 (GRCm39)		probably null	Het
Akp3	T	G	1: 87,054,259 (GRCm39)	Y265*	probably null	Het
Atp6v1b1	A	T	6: 83,729,390 (GRCm39)	D109V	probably damaging	Het
Aurka	C	A	2: 172,212,366 (GRCm39)	E4*	probably null	Het
Cacna1g	T	A	11: 94,300,266 (GRCm39)	Q2168L	probably damaging	Het
Cdc45	T	A	16: 18,600,722 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,850,837 (GRCm39)	V325A	probably benign	Het
Clasp2	T	A	9: 113,735,292 (GRCm39)		probably null	Het
Crim1	T	A	17: 78,620,655 (GRCm39)	I365N	probably damaging	Het
Dcaf8	A	G	1: 172,001,610 (GRCm39)	N269S	probably benign	Het
Dnaaf5	T	C	5: 139,147,633 (GRCm39)	V399A	possibly damaging	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Eef2k	T	C	7: 120,502,513 (GRCm39)	Y692H	probably damaging	Het
Elavl2	A	T	4: 91,197,104 (GRCm39)		probably benign	Het
Epn2	C	A	11: 61,437,281 (GRCm39)	R97L	possibly damaging	Het
Fam243	T	C	16: 92,117,995 (GRCm39)	I98V	probably benign	Het
Fzd6	G	A	15: 38,894,676 (GRCm39)	A281T	probably damaging	Het
Garem2	T	A	5: 30,319,180 (GRCm39)	I214N	probably damaging	Het
Glg1	A	G	8: 111,887,238 (GRCm39)		probably benign	Het
Golm1	T	C	13: 59,812,178 (GRCm39)	E48G	probably damaging	Het
Gpaa1	G	T	15: 76,216,233 (GRCm39)	R12L	probably benign	Het
Gstm1	T	A	3: 107,924,679 (GRCm39)	T34S	probably benign	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Herc1	A	T	9: 66,383,663 (GRCm39)	Q3709L	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Icam1	A	G	9: 20,939,157 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,510,096 (GRCm39)		probably null	Het
Kif15	T	C	9: 122,838,424 (GRCm39)	F1121L	probably benign	Het
Klhl30	T	A	1: 91,288,718 (GRCm39)		probably benign	Het
Ldlrad1	T	C	4: 107,073,387 (GRCm39)	C141R	probably damaging	Het
Lemd2	T	C	17: 27,409,627 (GRCm39)	D508G	probably damaging	Het
Lilra5	A	C	7: 4,241,218 (GRCm39)	T52P	probably benign	Het
Lrtm2	G	A	6: 119,294,229 (GRCm39)	P301S	probably damaging	Het
Mkrn2os	A	G	6: 115,563,631 (GRCm39)	S135P	probably damaging	Het
Mlxipl	T	C	5: 135,162,224 (GRCm39)	V607A	probably benign	Het
Mmadhc	T	C	2: 50,171,173 (GRCm39)	Y213C	probably benign	Het
Mpo	C	A	11: 87,687,123 (GRCm39)	A223E	probably benign	Het
Mthfd2l	C	G	5: 91,168,036 (GRCm39)	I310M	probably damaging	Het
Muc5b	C	A	7: 141,418,709 (GRCm39)	A3885D	probably benign	Het
Mvp	A	G	7: 126,597,663 (GRCm39)	W152R	probably damaging	Het
Nmur2	A	T	11: 55,931,394 (GRCm39)	F106I	possibly damaging	Het
Nr3c2	T	A	8: 77,636,167 (GRCm39)	F423I	probably damaging	Het
Or1l8	A	G	2: 36,817,349 (GRCm39)	V259A	probably damaging	Het
Or5m5	A	G	2: 85,814,600 (GRCm39)	S139G	probably benign	Het
Or8c16	G	A	9: 38,130,344 (GRCm39)	C75Y	probably damaging	Het
Or9q1	G	T	19: 13,805,593 (GRCm39)	H56N	probably benign	Het
Pappa	A	G	4: 65,074,119 (GRCm39)	I224M	probably damaging	Het
Prex1	A	C	2: 166,427,743 (GRCm39)	S800A	probably damaging	Het
Prkaca	T	C	8: 84,721,911 (GRCm39)		probably benign	Het
Ptpru	A	T	4: 131,526,986 (GRCm39)	V662E	possibly damaging	Het
Rabep1	T	A	11: 70,777,824 (GRCm39)		probably null	Het
Rbms2	C	T	10: 127,987,058 (GRCm39)	C50Y	probably damaging	Het
Rd3	C	T	1: 191,709,414 (GRCm39)	P25S	probably damaging	Het
Rnf148	T	G	6: 23,654,256 (GRCm39)	I247L	probably benign	Het
Sf3b3	A	G	8: 111,538,768 (GRCm39)		probably benign	Het
Slc35c1	A	T	2: 92,284,858 (GRCm39)	F252Y	probably damaging	Het
Slc38a11	T	C	2: 65,193,813 (GRCm39)		probably null	Het
Snx6	G	T	12: 54,814,921 (GRCm39)	Y17*	probably null	Het
Sox6	C	A	7: 115,089,029 (GRCm39)	R611L	probably damaging	Het
Spata13	G	A	14: 60,929,492 (GRCm39)	R350H	probably damaging	Het
Sppl2a	G	T	2: 126,746,879 (GRCm39)	A483D	probably damaging	Het
Stat1	C	T	1: 52,188,211 (GRCm39)		probably benign	Het
Tab2	A	T	10: 7,795,319 (GRCm39)	Y314N	probably damaging	Het
Tor1aip1	T	C	1: 155,906,153 (GRCm39)	N213S	probably damaging	Het
Trim39	T	C	17: 36,572,404 (GRCm39)	K300E	probably damaging	Het
Tubal3	T	C	13: 3,983,137 (GRCm39)	S306P	probably damaging	Het
Ufm1	A	G	3: 53,768,655 (GRCm39)	L33P	probably damaging	Het
Washc4	G	A	10: 83,382,663 (GRCm39)	V26I	possibly damaging	Het
Wfs1	A	G	5: 37,126,013 (GRCm39)	Y293H	probably damaging	Het
Zbtb41	T	C	1: 139,351,214 (GRCm39)	V109A	probably damaging	Het
Zfp667	T	C	7: 6,307,844 (GRCm39)	S171P	probably benign	Het
Zkscan5	T	A	5: 145,142,281 (GRCm39)	H59Q	probably damaging	Het
Zswim8	C	T	14: 20,768,965 (GRCm39)	R1128W	probably damaging	Het

Other mutations in Mcoln2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R1603:Mcoln2	UTSW	3	145,885,977 (GRCm39)	missense	probably damaging	1.00
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'- GCATCCGGTAGAACTCAGTACCAAC -3'
(R):5'- GCTGTCACGAAGGACTTTTGCTACG -3'

Sequencing Primer
(F):5'- ggtggggtggggaatgg -3'
(R):5'- TACGTAGCGGAGAGCCC -3'

Posted On

2013-05-23