Mutagenetix > Incidental Mutation

Incidental Mutation 'R5718:Mcoln2'

451268

Institutional Source

Beutler Lab

Gene Symbol

Mcoln2

Ensembl Gene

ENSMUSG00000011008

Gene Name

mucolipin 2

Synonyms

TRPML2, 3300002C04Rik, mucolipidin 2

MMRRC Submission

043338-MU

Accession Numbers

Essential gene?

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

Stock #

R5718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145855588-145901268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145887581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 333 (S333P)

Ref Sequence

ENSEMBL: ENSMUSP00000096125 (fasta)

Gene Model

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

AlphaFold

Q8K595

Predicted Effect

probably damaging
Transcript: ENSMUST00000011152
AA Change: S361P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000011152
Gene: ENSMUSG00000011008
AA Change: S361P

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 damaging
Transcript: ENSMUST00000098524
AA Change: S333P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096125
Gene: ENSMUSG00000011008
AA Change: S333P

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,603,514 (GRCm39)		probably null	Het
Ahctf1	G	T	1: 179,596,904 (GRCm39)	H81N	possibly damaging	Het
Alyref2	T	C	1: 171,331,678 (GRCm39)	S152P	possibly damaging	Het
Arhgef7	C	T	8: 11,835,774 (GRCm39)	T20I	probably damaging	Het
Armc3	T	G	2: 19,308,610 (GRCm39)	Y759*	probably null	Het
Atg5	A	G	10: 44,238,983 (GRCm39)	S255G	probably benign	Het
Atp11b	A	G	3: 35,891,665 (GRCm39)	I1026V	probably benign	Het
Atp1a2	C	A	1: 172,107,009 (GRCm39)	K770N	probably damaging	Het
Bptf	G	T	11: 107,002,260 (GRCm39)	A284E	probably damaging	Het
Celsr2	A	G	3: 108,300,674 (GRCm39)	S815P	probably benign	Het
Chrna5	A	G	9: 54,905,389 (GRCm39)	H67R	probably benign	Het
Cic	A	G	7: 24,972,203 (GRCm39)	I645V	probably benign	Het
Clpx	A	T	9: 65,207,246 (GRCm39)	Q48L	probably benign	Het
Crhr2	G	A	6: 55,069,085 (GRCm39)	Q397*	probably null	Het
Cyp11a1	G	A	9: 57,925,508 (GRCm39)	V48I	probably benign	Het
Dchs1	C	T	7: 105,404,955 (GRCm39)	R2529H	probably benign	Het
Dnah7c	A	T	1: 46,787,826 (GRCm39)	H3293L	possibly damaging	Het
Dock6	G	T	9: 21,735,789 (GRCm39)	D986E	probably benign	Het
Efcab6	T	A	15: 83,788,439 (GRCm39)	N952Y	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epg5	G	A	18: 78,029,618 (GRCm39)	C1327Y	probably damaging	Het
Fbxw18	T	C	9: 109,520,636 (GRCm39)	E241G	probably benign	Het
Fsd1	T	G	17: 56,297,542 (GRCm39)		probably benign	Het
Gcnt3	A	G	9: 69,941,552 (GRCm39)	S339P	probably benign	Het
Gldc	T	A	19: 30,088,172 (GRCm39)	K829*	probably null	Het
Gli3	G	A	13: 15,652,750 (GRCm39)		probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Hmcn1	A	T	1: 150,566,351 (GRCm39)	C2217*	probably null	Het
Hmcn1	A	T	1: 150,485,417 (GRCm39)	I4395N	probably damaging	Het
Hmgxb3	A	G	18: 61,273,909 (GRCm39)	M861T	probably benign	Het
Ift172	A	G	5: 31,412,621 (GRCm39)	S1545P	possibly damaging	Het
Jak3	C	A	8: 72,136,998 (GRCm39)	L725M	probably damaging	Het
Lrig2	A	T	3: 104,375,931 (GRCm39)	C90*	probably null	Het
Mcm7	C	T	5: 138,163,081 (GRCm39)	R357H	possibly damaging	Het
Mrpl22	A	T	11: 58,068,109 (GRCm39)	I136L	probably benign	Het
Ncam2	A	T	16: 81,386,702 (GRCm39)		probably null	Het
Ncdn	G	A	4: 126,643,743 (GRCm39)	Q360*	probably null	Het
Nsun2	A	G	13: 69,771,403 (GRCm39)	K338E	probably benign	Het
Obscn	T	C	11: 58,927,634 (GRCm39)	T6105A	probably damaging	Het
Or2aj6	G	A	16: 19,443,139 (GRCm39)	S237F	probably benign	Het
Or8g36	A	T	9: 39,422,338 (GRCm39)	L226H	probably damaging	Het
Pcnx4	T	A	12: 72,613,968 (GRCm39)	F638I	possibly damaging	Het
Pfn3	T	C	13: 55,562,853 (GRCm39)	I43V	probably benign	Het
Pigm	C	A	1: 172,205,012 (GRCm39)		probably null	Het
Pkhd1l1	T	A	15: 44,408,813 (GRCm39)	S2433R	probably damaging	Het
Pomt1	C	A	2: 32,138,704 (GRCm39)	A440D	possibly damaging	Het
Ptprj	T	C	2: 90,288,613 (GRCm39)	D691G	probably benign	Het
Qrich1	T	A	9: 108,406,022 (GRCm39)	S72T	probably damaging	Het
Ralgapa2	T	A	2: 146,295,326 (GRCm39)		probably null	Het
Rarg	A	C	15: 102,149,502 (GRCm39)	S156A	probably damaging	Het
Rasl11a	A	G	5: 146,783,954 (GRCm39)	K133R	probably benign	Het
Rcor1	A	G	12: 111,068,069 (GRCm39)	D158G	probably benign	Het
Rpn2	C	T	2: 157,163,747 (GRCm39)	T613M	probably damaging	Het
Sipa1l2	T	A	8: 126,217,987 (GRCm39)	H450L	probably damaging	Het
Slc25a21	T	C	12: 56,764,941 (GRCm39)	I263V	probably benign	Het
Slc25a32	A	T	15: 38,960,957 (GRCm39)	V242E	probably benign	Het
Slc5a5	T	A	8: 71,340,399 (GRCm39)	T484S	probably benign	Het
Tdrd3	T	C	14: 87,743,876 (GRCm39)	V608A	probably benign	Het
Thnsl1	C	A	2: 21,216,811 (GRCm39)	H188Q	possibly damaging	Het
Tshz1	A	T	18: 84,032,649 (GRCm39)	H586Q	probably damaging	Het
Vmn2r27	C	T	6: 124,169,103 (GRCm39)	A676T	possibly damaging	Het
Wasf1	G	A	10: 40,802,570 (GRCm39)	R75Q	probably damaging	Het
Xbp1	T	A	11: 5,471,903 (GRCm39)	F10I	probably benign	Het
Zbtb1	G	A	12: 76,433,698 (GRCm39)	M561I	probably benign	Het
Zfp708	T	C	13: 67,218,522 (GRCm39)	K446E	probably benign	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
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'- GCCAGCTCGGAATTGTTTG -3'
(R):5'- TAGGGTGTCACCTTCCACAG -3'

Sequencing Primer
(F):5'- CCAGCTCGGAATTGTTTGCTCTTG -3'
(R):5'- ACAGCGCACTCTTCCTGGAG -3'

Posted On

2017-01-03