Mutagenetix > Incidental Mutation

Incidental Mutation 'R8077:Mcoln2'

629065

Institutional Source

Beutler Lab

Gene Symbol

Mcoln2

Ensembl Gene

ENSMUSG00000011008

Gene Name

mucolipin 2

Synonyms

TRPML2, 3300002C04Rik, mucolipidin 2

MMRRC Submission

067511-MU

Accession Numbers

Essential gene?

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

Stock #

R8077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145855588-145901268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145896169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 497 (M497T)

Ref Sequence

ENSEMBL: ENSMUSP00000011152 (fasta)

Gene Model

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

AlphaFold

Q8K595

Predicted Effect

probably damaging
Transcript: ENSMUST00000011152
AA Change: M497T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000011152
Gene: ENSMUSG00000011008
AA Change: M497T

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: M469T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096125
Gene: ENSMUSG00000011008
AA Change: M469T

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

probably damaging
Transcript: ENSMUST00000170972
AA Change: M17T

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

SMART Domains

Protein: ENSMUSP00000128900
Gene: ENSMUSG00000011008
AA Change: M17T

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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.4%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,237 (GRCm39)	V132E	probably benign	Het
4930563M21Rik	C	T	9: 55,895,250 (GRCm39)	V315M	probably damaging	Het
Aadacl4fm1	T	C	4: 144,255,126 (GRCm39)	I182T	probably benign	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Amotl1	A	T	9: 14,461,798 (GRCm39)	V805D	probably damaging	Het
Arhgef3	T	C	14: 27,107,881 (GRCm39)	L179P	probably damaging	Het
Atp8b3	G	A	10: 80,366,858 (GRCm39)	L247F	possibly damaging	Het
Ccdc191	T	C	16: 43,735,968 (GRCm39)		probably null	Het
Celsr3	A	G	9: 108,705,530 (GRCm39)	H671R	probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Cfap97	G	T	8: 46,623,482 (GRCm39)	V291F	possibly damaging	Het
Clca3a2	A	G	3: 144,777,288 (GRCm39)	V861A	possibly damaging	Het
Cln8	A	T	8: 14,944,950 (GRCm39)	D88V	probably damaging	Het
Col18a1	C	A	10: 76,916,685 (GRCm39)	G330V	unknown	Het
Dis3	C	T	14: 99,327,471 (GRCm39)	R344Q	probably benign	Het
Esyt2	T	A	12: 116,305,848 (GRCm39)	S359R	possibly damaging	Het
Fbxo41	A	T	6: 85,450,211 (GRCm39)	L844Q	probably damaging	Het
Fn1	G	A	1: 71,651,761 (GRCm39)	T1372M	probably damaging	Het
Gbp5	G	A	3: 142,213,500 (GRCm39)	R472H	probably benign	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gm9507	T	A	10: 77,647,604 (GRCm39)	E25V	unknown	Het
Golgb1	A	G	16: 36,738,995 (GRCm39)	I2486V	probably damaging	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Ift80	A	G	3: 68,823,478 (GRCm39)	Y595H	probably benign	Het
Itga8	C	T	2: 12,247,244 (GRCm39)	V326I	probably benign	Het
Kif14	A	T	1: 136,399,186 (GRCm39)	H449L	possibly damaging	Het
Klrh1	A	G	6: 129,743,658 (GRCm39)	Y209H	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lrrc8b	C	A	5: 105,627,883 (GRCm39)	S76R	possibly damaging	Het
Lrrn1	T	C	6: 107,545,783 (GRCm39)	L527P	probably damaging	Het
Luc7l	T	C	17: 26,474,047 (GRCm39)	V35A	probably damaging	Het
Luzp1	T	G	4: 136,270,402 (GRCm39)	V875G	probably damaging	Het
Mcf2l	G	T	8: 13,048,494 (GRCm39)		probably null	Het
Mrgprb4	A	T	7: 47,848,203 (GRCm39)	S242T	probably benign	Het
Muc21	TCAGTGGTGGTCAGGATGGGGGTAGAGCCTGAGCCACTCCTGGATGCAGTGGTGGTCAGG	TCAGTGGTGGTCAGG	17: 35,930,628 (GRCm39)		probably benign	Het
Nipbl	T	A	15: 8,340,734 (GRCm39)	R1995S	possibly damaging	Het
Nup35	A	G	2: 80,469,280 (GRCm39)		probably null	Het
Or13a17	C	T	7: 140,271,046 (GRCm39)	S76F	probably benign	Het
Or2o1	A	G	11: 49,051,312 (GRCm39)	D157G	probably damaging	Het
Or6k2	A	G	1: 173,979,411 (GRCm39)		probably benign	Het
Prdm12	A	G	2: 31,532,316 (GRCm39)	K109E	probably damaging	Het
Ptch1	A	T	13: 63,688,626 (GRCm39)	L444Q	probably damaging	Het
Qtrt1	C	T	9: 21,331,392 (GRCm39)	R374*	probably null	Het
Rnase11	T	C	14: 51,287,398 (GRCm39)	D52G	probably damaging	Het
Rps6	A	G	4: 86,774,158 (GRCm39)	S148P	probably benign	Het
Rrm2b	T	C	15: 37,947,044 (GRCm39)	K86E	possibly damaging	Het
Sh2d1b2	A	G	1: 170,075,742 (GRCm39)	K59E	possibly damaging	Het
Six6	T	A	12: 72,987,100 (GRCm39)	W91R	probably damaging	Het
Slc23a2	C	A	2: 131,931,092 (GRCm39)	A136S	possibly damaging	Het
Slc9a5	G	A	8: 106,086,012 (GRCm39)	R593H	probably damaging	Het
Smbd1	T	C	16: 32,630,804 (GRCm39)	M1V	probably null	Het
Ssbp4	T	C	8: 71,051,647 (GRCm39)	Y239C	probably damaging	Het
Stox1	T	C	10: 62,501,345 (GRCm39)	E405G	probably damaging	Het
Tle7	C	T	8: 110,836,735 (GRCm39)	T207M	probably damaging	Het
Tmem192	A	G	8: 65,418,196 (GRCm39)	I194V	probably benign	Het
Tns3	A	T	11: 8,395,667 (GRCm39)	C1246S	probably damaging	Het
Ugt1a6a	A	T	1: 88,066,575 (GRCm39)	Q127L	probably benign	Het
Ush2a	A	G	1: 188,275,025 (GRCm39)	I1833V	probably benign	Het
Vmn2r66	A	T	7: 84,656,093 (GRCm39)	Y308N	probably benign	Het
Vti1a	T	G	19: 55,564,917 (GRCm39)	L191R	probably benign	Het
Zbtb38	A	T	9: 96,570,153 (GRCm39)	N310K	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
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
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'- TCCTATGGTGCTCAGCCTCA -3'
(R):5'- GACCAAAACAAACCAAGGTCTATTTT -3'

Sequencing Primer
(F):5'- TGCTCAGCCTCAGGGGTTC -3'
(R):5'- TCGTGCTCCAATCCATAC -3'

Posted On

2020-06-30