Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Mcoln2'

191189

Institutional Source

Beutler Lab

Gene Symbol

Mcoln2

Ensembl Gene

ENSMUSG00000011008

Gene Name

mucolipin 2

Synonyms

TRPML2, 3300002C04Rik, mucolipidin 2

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

145855588-145901268 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 145896229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011152] [ENSMUST00000098524] [ENSMUST00000170972]

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: ENSMUST00000169984

Predicted Effect

probably benign
Transcript: ENSMUST00000170972

SMART Domains

Protein: ENSMUSP00000128900
Gene: ENSMUSG00000011008

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	66	80	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,393,489 (GRCm39)		probably benign	Het
Acot3	T	G	12: 84,100,717 (GRCm39)		probably null	Het
Acox1	A	T	11: 116,065,508 (GRCm39)	C523*	probably null	Het
Adamts19	G	A	18: 59,105,897 (GRCm39)	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Apob	A	G	12: 8,066,087 (GRCm39)	K4319R	probably benign	Het
AU016765	A	C	17: 64,862,433 (GRCm39)		noncoding transcript	Het
Bpifb1	T	A	2: 154,055,903 (GRCm39)		probably null	Het
Btn2a2	A	G	13: 23,666,106 (GRCm39)	V242A	probably benign	Het
Camta1	A	G	4: 151,168,481 (GRCm39)	S1281P	probably benign	Het
Ccdc116	T	C	16: 16,959,772 (GRCm39)	K306E	probably benign	Het
Cemip	A	G	7: 83,584,866 (GRCm39)	V1350A	probably benign	Het
Clip2	A	T	5: 134,531,783 (GRCm39)	L674*	probably null	Het
Cyp2d12	T	A	15: 82,442,251 (GRCm39)	D244E	probably benign	Het
Cyp4x1	A	G	4: 114,968,867 (GRCm39)	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,058,905 (GRCm39)	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,881,809 (GRCm39)	Y318C	probably damaging	Het
Fras1	A	T	5: 96,702,748 (GRCm39)		probably null	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm28042	T	A	2: 119,866,872 (GRCm39)	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,839,299 (GRCm39)		probably benign	Het
Gpr61	C	T	3: 108,057,696 (GRCm39)	V322M	possibly damaging	Het
H2-T5	A	G	17: 36,472,676 (GRCm39)		probably benign	Het
Hapln3	A	G	7: 78,773,198 (GRCm39)	V15A	unknown	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klk1b4	A	G	7: 43,859,096 (GRCm39)	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,043,277 (GRCm39)	K561E	probably damaging	Het
Map3k1	A	G	13: 111,891,953 (GRCm39)	C1101R	probably benign	Het
Mfsd2b	G	A	12: 4,919,037 (GRCm39)	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,851,199 (GRCm39)	V19I	probably benign	Het
Mgme1	T	A	2: 144,114,238 (GRCm39)	D113E	probably benign	Het
Mki67	A	G	7: 135,297,223 (GRCm39)	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,688,841 (GRCm39)	I125V	probably benign	Het
Mrps9	G	A	1: 42,942,559 (GRCm39)	R339H	probably damaging	Het
Ndst1	T	C	18: 60,840,875 (GRCm39)	D269G	probably damaging	Het
Nedd9	T	C	13: 41,492,402 (GRCm39)	N30S	probably damaging	Het
Notch4	G	A	17: 34,795,737 (GRCm39)		probably benign	Het
Or5ak25	T	C	2: 85,269,149 (GRCm39)	M118V	probably benign	Het
Or5t15	A	T	2: 86,681,531 (GRCm39)	N170K	probably benign	Het
Or8b9	G	A	9: 37,766,749 (GRCm39)	V212I	probably benign	Het
Or8c10	A	G	9: 38,278,890 (GRCm39)	D6G	probably benign	Het
Papss1	C	A	3: 131,324,946 (GRCm39)	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,747,274 (GRCm39)		probably benign	Het
Rab11fip2	A	G	19: 59,924,081 (GRCm39)	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,285,200 (GRCm39)	Y554*	probably null	Het
Rem2	T	C	14: 54,716,607 (GRCm39)	V240A	probably damaging	Het
Retsat	T	C	6: 72,579,654 (GRCm39)	V143A	probably benign	Het
Rnf141	G	T	7: 110,420,480 (GRCm39)	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,777,881 (GRCm39)	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,930,971 (GRCm39)	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,304,867 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,755,828 (GRCm39)	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,522,106 (GRCm39)	H66Y	probably benign	Het
Speg	G	A	1: 75,394,507 (GRCm39)	E1739K	probably benign	Het
Speg	A	G	1: 75,398,388 (GRCm39)	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 125,625,096 (GRCm39)	V67A	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 84,902,082 (GRCm39)	E997D	probably benign	Het
Tti1	A	T	2: 157,850,144 (GRCm39)	V365E	probably benign	Het
Tulp4	A	G	17: 6,272,715 (GRCm39)	I590V	probably benign	Het
Vmn2r61	A	G	7: 41,950,121 (GRCm39)	D847G	probably benign	Het
Zfp184	A	G	13: 22,143,442 (GRCm39)	T383A	possibly damaging	Het
Zik1	T	A	7: 10,226,268 (GRCm39)	E33V	probably damaging	Het
Zik1	C	A	7: 10,226,269 (GRCm39)	E33*	probably null	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
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
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
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'- CACGTTCGCTCAGATCCAGCAGAAG -3'
(R):5'- GACCCATACCACGGTAACAAGTGAAATG -3'

Sequencing Primer
(F):5'- TCAGATCCAGCAGAAGAGCATTC -3'
(R):5'- aaacccttccctccccc -3'

Posted On

2014-05-14