Mutagenetix > Incidental Mutation

Incidental Mutation 'R5678:Lamtor2'

442870

Institutional Source

Beutler Lab

Gene Symbol

Lamtor2

Ensembl Gene

ENSMUSG00000028062

Gene Name

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

Synonyms

2010111E04Rik, Robld3, Mapbpip, Rab25, P14

MMRRC Submission

043317-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5678 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88457126-88460258 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 88458101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008745] [ENSMUST00000008748] [ENSMUST00000029698] [ENSMUST00000119002] [ENSMUST00000131775] [ENSMUST00000192962]

AlphaFold

Q9JHS3

Predicted Effect

probably benign
Transcript: ENSMUST00000008745

SMART Domains

Protein: ENSMUSP00000008745
Gene: ENSMUSG00000008601

Domain	Start	End	E-Value	Type
RAB	13	176	2.1e-95	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000008748

SMART Domains

Protein: ENSMUSP00000008748
Gene: ENSMUSG00000008604

Domain	Start	End	E-Value	Type
UBQ	13	83	9.08e-17	SMART
low complexity region	93	119	N/A	INTRINSIC
low complexity region	130	149	N/A	INTRINSIC
low complexity region	152	170	N/A	INTRINSIC
low complexity region	176	185	N/A	INTRINSIC
STI1	187	224	2.76e-6	SMART
STI1	225	256	2.39e-1	SMART
low complexity region	302	313	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
low complexity region	339	351	N/A	INTRINSIC
STI1	388	435	7.4e-7	SMART
STI1	439	471	3.21e1	SMART
low complexity region	528	539	N/A	INTRINSIC
UBA	554	592	8.25e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000029698

SMART Domains

Protein: ENSMUSP00000029698
Gene: ENSMUSG00000028062

Domain	Start	End	E-Value	Type
Robl_LC7	7	95	2.65e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119002

SMART Domains

Protein: ENSMUSP00000112936
Gene: ENSMUSG00000028062

Domain	Start	End	E-Value	Type
Blast:Robl_LC7	1	22	2e-8	BLAST
PDB:3CPT\|B	1	52	2e-32	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000131775

SMART Domains

Protein: ENSMUSP00000120505
Gene: ENSMUSG00000008601

Domain	Start	End	E-Value	Type
RAB	3	122	6.15e-47	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194303

Predicted Effect

probably benign
Transcript: ENSMUST00000192962

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Embryos homozygous for a knock-out allele display severe developmental defects, are growth retarded and die prior to E10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,466,529 (GRCm39)	T168A	probably damaging	Het
3425401B19Rik	T	A	14: 32,384,010 (GRCm39)	R652W	probably damaging	Het
A530016L24Rik	T	G	12: 112,463,306 (GRCm39)	C43W	probably damaging	Het
Aatk	T	C	11: 119,900,980 (GRCm39)	T1082A	probably benign	Het
Acsl1	T	A	8: 46,945,887 (GRCm39)	F7I	probably benign	Het
Adgb	T	G	10: 10,307,070 (GRCm39)	S299R	possibly damaging	Het
Apob	T	C	12: 8,041,494 (GRCm39)	F738L	possibly damaging	Het
Art3	T	C	5: 92,540,409 (GRCm39)	Y51H	probably damaging	Het
Atr	C	T	9: 95,833,540 (GRCm39)	Q2597*	probably null	Het
Atrn	T	C	2: 130,811,936 (GRCm39)	V627A	probably damaging	Het
Baz1a	T	C	12: 54,947,317 (GRCm39)	K1111E	probably damaging	Het
Ccdc40	T	C	11: 119,122,398 (GRCm39)	S67P	possibly damaging	Het
Cd164	T	C	10: 41,395,948 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,234,154 (GRCm39)	D2214G	probably damaging	Het
Clcn1	A	G	6: 42,284,199 (GRCm39)	Y589C	probably damaging	Het
Col1a2	C	T	6: 4,536,239 (GRCm39)	A998V	unknown	Het
Csrnp2	T	C	15: 100,379,685 (GRCm39)	*535W	probably null	Het
Dhrs7	C	T	12: 72,704,106 (GRCm39)	G130D	probably damaging	Het
Dnah3	T	C	7: 119,677,074 (GRCm39)	T477A	probably benign	Het
Dscam	A	G	16: 96,592,100 (GRCm39)	F725S	probably benign	Het
Dstyk	T	C	1: 132,381,029 (GRCm39)	V508A	probably benign	Het
Eif4g3	A	G	4: 137,879,053 (GRCm39)	E595G	probably damaging	Het
Epha6	A	T	16: 59,639,342 (GRCm39)	V844E	probably damaging	Het
Esrp2	G	A	8: 106,858,750 (GRCm39)	A629V	probably damaging	Het
Fndc3b	A	G	3: 27,483,172 (GRCm39)	S1009P	probably benign	Het
Gm8257	A	T	14: 44,894,706 (GRCm39)	I28N	probably damaging	Het
Ighv5-9-1	T	C	12: 113,700,207 (GRCm39)	E4G	possibly damaging	Het
Ints3	A	G	3: 90,310,855 (GRCm39)	V455A	probably damaging	Het
Npy1r	T	C	8: 67,156,855 (GRCm39)	C92R	probably damaging	Het
Nup210l	T	C	3: 90,098,266 (GRCm39)	V1406A	probably damaging	Het
Or10g7	T	C	9: 39,905,199 (GRCm39)	V31A	probably benign	Het
Or4a75	A	G	2: 89,447,625 (GRCm39)	F304L	probably benign	Het
Or4c108	A	T	2: 88,803,317 (GRCm39)	L306*	probably null	Het
Prune2	A	G	19: 17,096,032 (GRCm39)	D512G	probably damaging	Het
Qdpr	T	C	5: 45,604,979 (GRCm39)	E43G	possibly damaging	Het
Rps6ka5	T	C	12: 100,691,135 (GRCm39)	E2G	unknown	Het
Setd2	A	G	9: 110,431,254 (GRCm39)	T5A	probably damaging	Het
Slc66a2	T	C	18: 80,300,249 (GRCm39)	I40T	probably damaging	Het
Srpk2	TCA	T	5: 23,729,604 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,783,397 (GRCm39)		probably null	Het
Tasor	CGCGGCGGCGGCGGCGG	CGCGGCGGCGGCGGCGGCGGCGG	14: 27,151,080 (GRCm39)		probably benign	Het
Tchh	A	T	3: 93,352,933 (GRCm39)	Q791L	unknown	Het
Tmed11	T	C	5: 108,934,031 (GRCm39)	D55G	probably benign	Het
Tnrc18	T	C	5: 142,719,319 (GRCm39)	D1989G	unknown	Het
Utp20	A	T	10: 88,644,979 (GRCm39)	H582Q	probably benign	Het
Utrn	A	G	10: 12,317,762 (GRCm39)	I554T	probably damaging	Het
Zfp1005	A	T	2: 150,110,425 (GRCm39)	R372*	probably null	Het
Zfp119a	T	C	17: 56,175,336 (GRCm39)	E53G	probably benign	Het

Other mutations in Lamtor2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Blaze	UTSW	3	88,460,163 (GRCm39)	missense	possibly damaging	0.59
R5012:Lamtor2	UTSW	3	88,460,163 (GRCm39)	missense	possibly damaging	0.59
R6265:Lamtor2	UTSW	3	88,458,020 (GRCm39)	nonsense	probably null
R6983:Lamtor2	UTSW	3	88,460,146 (GRCm39)	nonsense	probably null
R7903:Lamtor2	UTSW	3	88,459,817 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AACTAAGGCTGGATCAGTGC -3'
(R):5'- GGTTTCCCAGGATAGCTTGG -3'

Sequencing Primer
(F):5'- TAGTTGAGAATCTGCCCAGC -3'
(R):5'- GCACATGGCTCAGCTGAG -3'

Posted On

2016-11-09