Mutagenetix > Incidental Mutation

Incidental Mutation 'R7142:Mcoln2'

553453

Institutional Source

Beutler Lab

Gene Symbol

Mcoln2

Ensembl Gene

ENSMUSG00000011008

Gene Name

mucolipin 2

Synonyms

TRPML2, 3300002C04Rik, mucolipidin 2

MMRRC Submission

045250-MU

Accession Numbers

Essential gene?

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

Stock #

R7142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145855588-145901268 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 145889324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000011152 (fasta)

Gene Model

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

AlphaFold

Q8K595

Predicted Effect

probably null
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 null
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (63/64)

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
2610008E11Rik	T	A	10: 78,903,446 (GRCm39)	H290L	probably damaging	Het
Abca1	T	A	4: 53,082,050 (GRCm39)	S737C	probably damaging	Het
Abca14	G	C	7: 119,850,406 (GRCm39)	V753L	possibly damaging	Het
Adgrl1	C	T	8: 84,663,829 (GRCm39)	H1099Y	probably benign	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Aldh1l1	G	A	6: 90,540,398 (GRCm39)	D228N	probably damaging	Het
Cacna1e	G	T	1: 154,288,230 (GRCm39)	Q1883K	probably damaging	Het
Caskin2	A	G	11: 115,697,562 (GRCm39)	Y125H	probably benign	Het
Ccdc85a	A	T	11: 28,527,192 (GRCm39)	Y139N	probably damaging	Het
Cd93	C	T	2: 148,283,725 (GRCm39)	W540*	probably null	Het
Cdh3	G	A	8: 107,271,860 (GRCm39)		probably null	Het
Chmp2b	G	A	16: 65,343,794 (GRCm39)	Q88*	probably null	Het
Cpt1a	T	C	19: 3,425,100 (GRCm39)	M489T	probably benign	Het
Ctsk	G	A	3: 95,414,259 (GRCm39)	V274M	possibly damaging	Het
Cyp3a44	A	G	5: 145,714,771 (GRCm39)	V460A	probably benign	Het
Cypt4	C	T	9: 24,536,740 (GRCm39)	R77*	probably null	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dnah7a	A	T	1: 53,452,927 (GRCm39)	Y3850*	probably null	Het
Drosha	A	T	15: 12,924,232 (GRCm39)	T1205S	possibly damaging	Het
Eif3j2	T	C	18: 43,610,465 (GRCm39)	E116G	probably damaging	Het
Ercc5	A	G	1: 44,213,374 (GRCm39)	E790G	probably damaging	Het
Fam163b	C	T	2: 27,003,567 (GRCm39)	R29Q	probably damaging	Het
Fbxo44	C	T	4: 148,243,269 (GRCm39)	G50E	unknown	Het
Foxo3	T	C	10: 42,150,591 (GRCm39)		probably null	Het
Gnal	C	T	18: 67,351,599 (GRCm39)	P386L	probably damaging	Het
Gpc5	T	A	14: 115,654,615 (GRCm39)	H478Q	probably benign	Het
Grhl2	A	T	15: 37,279,826 (GRCm39)	D178V	probably benign	Het
Gtf2i	C	A	5: 134,273,705 (GRCm39)	V755L	possibly damaging	Het
Hal	T	C	10: 93,336,513 (GRCm39)	V414A	possibly damaging	Het
Hmx2	T	C	7: 131,157,465 (GRCm39)	V193A	probably damaging	Het
Il17a	T	A	1: 20,802,327 (GRCm39)	M12K	probably benign	Het
Invs	T	A	4: 48,407,696 (GRCm39)	I557N	probably damaging	Het
Kng1	T	A	16: 22,898,170 (GRCm39)	H523Q	probably benign	Het
Lrp4	T	A	2: 91,325,339 (GRCm39)	I1388N	probably damaging	Het
Mboat4	A	G	8: 34,587,291 (GRCm39)	I63V	probably benign	Het
Mgat5	A	T	1: 127,339,924 (GRCm39)	D435V	probably damaging	Het
Mri1	C	A	8: 84,983,753 (GRCm39)	R46L	probably damaging	Het
Mxra8	A	T	4: 155,927,519 (GRCm39)	Y409F	probably benign	Het
Nlrp1b	T	A	11: 71,062,901 (GRCm39)	R720*	probably null	Het
Ofcc1	T	C	13: 40,157,538 (GRCm39)	I887V	probably benign	Het
Or5l13	T	C	2: 87,780,056 (GRCm39)	I174V	probably benign	Het
Otud4	T	A	8: 80,399,391 (GRCm39)		probably null	Het
P3h1	T	A	4: 119,104,358 (GRCm39)	D626E	probably benign	Het
Pde2a	A	T	7: 101,153,857 (GRCm39)	D485V	probably damaging	Het
Phldb2	G	A	16: 45,577,539 (GRCm39)	R1129*	probably null	Het
Pkn1	T	C	8: 84,420,596 (GRCm39)	E10G	possibly damaging	Het
Psd2	A	G	18: 36,113,097 (GRCm39)	D264G	possibly damaging	Het
Psg29	A	G	7: 16,944,546 (GRCm39)	D352G	probably damaging	Het
Rgs14	T	C	13: 55,527,417 (GRCm39)	S218P	probably damaging	Het
Sec14l2	T	C	11: 4,048,379 (GRCm39)	T380A	probably benign	Het
Septin12	T	C	16: 4,806,226 (GRCm39)	T312A	unknown	Het
Skint5	A	T	4: 113,428,791 (GRCm39)	V1075E	unknown	Het
Ston2	A	G	12: 91,614,009 (GRCm39)	S800P	probably damaging	Het
Tmem106b	A	G	6: 13,081,564 (GRCm39)	N157S	probably damaging	Het
Tmem132b	G	A	5: 125,699,737 (GRCm39)	G133S	probably damaging	Het
Tmie	A	T	9: 110,699,749 (GRCm39)	M55K	possibly damaging	Het
Trpc6	A	T	9: 8,653,017 (GRCm39)	R608*	probably null	Het
Unc93a2	G	A	17: 7,644,021 (GRCm39)	T96I	probably damaging	Het
Usp35	A	G	7: 96,960,754 (GRCm39)	S891P	probably damaging	Het
Vmn1r178	A	G	7: 23,593,035 (GRCm39)	T28A	probably damaging	Het
Wnk1	T	A	6: 119,926,240 (GRCm39)	M1324L	probably benign	Het
Wrnip1	C	A	13: 32,986,616 (GRCm39)	S132R	possibly damaging	Het
Wsb1	T	C	11: 79,141,814 (GRCm39)	K68E	probably benign	Het
Zfp433	A	T	10: 81,556,040 (GRCm39)	K181*	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
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
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'- CATCTGTTAAAGTGAGGTAAGCAAG -3'
(R):5'- TTCTCGTGGTACGGTCCTAAG -3'

Sequencing Primer
(F):5'- TGTTAAAGTGAGGTAAGCAAGCCAAG -3'
(R):5'- TCGTGGTACGGTCCTAAGACAATC -3'

Posted On

2019-05-15