Mutagenetix > Incidental Mutations

Incidental Mutation 'R7781:Lamp3'

599261

Institutional Source

Beutler Lab

Gene Symbol

Lamp3

Ensembl Gene

ENSMUSG00000041247

Gene Name

lysosomal-associated membrane protein 3

Synonyms

Cd208, DC-LAMP, 1200002D17Rik, TSC403

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7781 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19653378-19706375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19699690 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 266 (S266T)

Ref Sequence

ENSEMBL: ENSMUSP00000080556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081880]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081880
AA Change: S266T

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: S266T

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Lamp	103	411	5.6e-75	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	G	A	3: 19,628,542	P23S	unknown	Het
Abcc6	C	T	7: 46,005,606	R487Q	probably damaging	Het
Abl1	A	T	2: 31,790,697	T334S	probably damaging	Het
Adam6b	T	C	12: 113,491,342	F593S	probably damaging	Het
Alx1	A	T	10: 103,009,192	M326K	probably damaging	Het
Ankhd1	A	T	18: 36,625,205	D984V	probably damaging	Het
Asb15	A	G	6: 24,562,645	N202S	probably benign	Het
Ate1	A	T	7: 130,519,427	V12E	probably damaging	Het
Atl2	A	T	17: 79,859,831	Y254N	probably damaging	Het
Atp13a5	A	G	16: 29,297,408	M630T	probably benign	Het
Atp5o	A	T	16: 91,926,529	I124N	possibly damaging	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Bicdl1	T	C	5: 115,661,487	E181G	probably damaging	Het
Bnipl	C	A	3: 95,244,175	W272L	probably damaging	Het
Catsperd	A	T	17: 56,664,072	H712L	probably benign	Het
Cilp2	T	C	8: 69,882,347	D667G	possibly damaging	Het
Cntn4	A	C	6: 106,523,614	K351Q	probably damaging	Het
Coq7	A	T	7: 118,525,888	I171N	probably damaging	Het
Csf2rb	T	A	15: 78,344,571	F371I	probably benign	Het
Cyp3a13	C	T	5: 137,898,874	V393M	possibly damaging	Het
Dennd2a	A	G	6: 39,493,066	V564A	probably damaging	Het
Ear14	T	C	14: 51,204,011	L108P	probably damaging	Het
Egflam	C	A	15: 7,253,746	V277F	probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Faap100	T	C	11: 120,374,263	M596V	probably benign	Het
Fbxw15	T	A	9: 109,557,262	T270S	possibly damaging	Het
Gabpb1	C	T	2: 126,639,200	C342Y	possibly damaging	Het
Gls	A	T	1: 52,212,333	C288*	probably null	Het
Gm14124	A	T	2: 150,267,657	H89L	possibly damaging	Het
Grm8	G	T	6: 27,285,787	D875E	probably benign	Het
Hdac4	C	A	1: 91,975,665	R514L	probably benign	Het
Hps4	T	A	5: 112,370,522	N460K	probably benign	Het
Inpp5d	T	C	1: 87,699,672	F565S	probably damaging	Het
Kcnh5	C	A	12: 74,976,681	V538F	probably damaging	Het
Kcp	T	C	6: 29,497,765	N499S	probably damaging	Het
Klk15	T	C	7: 43,939,556	L244S	probably benign	Het
Lemd3	A	G	10: 120,925,773	F863L	probably damaging	Het
Mga	T	A	2: 119,917,357	V663D	probably damaging	Het
Naa15	A	G	3: 51,471,483		probably null	Het
Ndrg3	C	A	2: 156,928,813	G352*	probably null	Het
Nr2f6	G	T	8: 71,375,951	N233K	possibly damaging	Het
Olfr1252	A	G	2: 89,721,535	F192S	probably benign	Het
Plxnb2	T	A	15: 89,157,022	M1774L	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rpl23a	G	A	11: 78,182,828	R62W	probably benign	Het
Rubcnl	A	G	14: 75,032,090	R63G	probably damaging	Het
Ryr1	T	C	7: 29,067,630	D2976G	probably damaging	Het
Siglec1	A	G	2: 131,081,338	Y496H	probably damaging	Het
Sipa1l2	A	G	8: 125,491,827	V257A	possibly damaging	Het
Slc24a4	T	C	12: 102,234,853		probably null	Het
Slc4a1ap	T	C	5: 31,527,478	S153P	probably damaging	Het
Slc4a4	A	T	5: 89,228,932	E1006V	possibly damaging	Het
Svep1	T	G	4: 58,069,251	E2845A	possibly damaging	Het
Tlr1	T	C	5: 64,926,736	N166S	possibly damaging	Het
Tmem231	C	T	8: 111,918,290		probably null	Het
Tsc2	C	A	17: 24,608,115	L873F	possibly damaging	Het
Unc13b	T	G	4: 43,259,546	S1403A	possibly damaging	Het
Vmn1r7	A	G	6: 57,024,568	F236L	probably benign	Het
Vmn2r111	T	C	17: 22,570,733	S431G	probably benign	Het
Wdr7	A	T	18: 63,777,789	K751*	probably null	Het
Wdr90	C	T	17: 25,846,326	R1652Q	probably damaging	Het
Zcchc2	T	C	1: 106,004,165	Y366H	probably damaging	Het
Zfp607a	C	T	7: 27,865,575	R56C	possibly damaging	Het

Other mutations in Lamp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01901:Lamp3	APN	16	19673419	missense	probably damaging	1.00
IGL02505:Lamp3	APN	16	19655457	missense	possibly damaging	0.48
IGL02892:Lamp3	APN	16	19676052	missense	probably damaging	1.00
IGL03228:Lamp3	APN	16	19676067	missense	possibly damaging	0.94
PIT4453001:Lamp3	UTSW	16	19673460	missense	probably benign	0.14
R0295:Lamp3	UTSW	16	19701108	nonsense	probably null
R0419:Lamp3	UTSW	16	19673552	missense	probably damaging	1.00
R1568:Lamp3	UTSW	16	19673525	missense	probably damaging	1.00
R1702:Lamp3	UTSW	16	19676072	missense	probably benign	0.11
R2018:Lamp3	UTSW	16	19701211	missense	probably benign	0.02
R2019:Lamp3	UTSW	16	19701211	missense	probably benign	0.02
R4072:Lamp3	UTSW	16	19700716	missense	possibly damaging	0.89
R4073:Lamp3	UTSW	16	19700716	missense	possibly damaging	0.89
R4075:Lamp3	UTSW	16	19700716	missense	possibly damaging	0.89
R4076:Lamp3	UTSW	16	19700716	missense	possibly damaging	0.89
R4333:Lamp3	UTSW	16	19673436	missense	probably benign	0.02
R4457:Lamp3	UTSW	16	19673529	missense	probably benign	0.19
R4868:Lamp3	UTSW	16	19701290	missense	probably benign	0.01
R4876:Lamp3	UTSW	16	19655470	missense	probably damaging	0.97
R5766:Lamp3	UTSW	16	19701317	missense	probably damaging	0.99
R5832:Lamp3	UTSW	16	19701320	missense	probably damaging	0.98
R5997:Lamp3	UTSW	16	19701028	missense	probably benign	0.22
R6000:Lamp3	UTSW	16	19700948	missense	possibly damaging	0.88
R6088:Lamp3	UTSW	16	19673398	missense	probably damaging	1.00
R6332:Lamp3	UTSW	16	19699681	missense	probably damaging	1.00
R6636:Lamp3	UTSW	16	19701233	missense	probably benign
R6637:Lamp3	UTSW	16	19701233	missense	probably benign
R6881:Lamp3	UTSW	16	19699618	missense	probably benign	0.39
R6966:Lamp3	UTSW	16	19699653	nonsense	probably null
R7002:Lamp3	UTSW	16	19655422	missense	possibly damaging	0.89
R7067:Lamp3	UTSW	16	19699663	missense	probably damaging	0.99
R7425:Lamp3	UTSW	16	19699612	critical splice donor site	probably null
R7866:Lamp3	UTSW	16	19699740	missense	probably benign	0.01
R7894:Lamp3	UTSW	16	19655391	missense	probably damaging	1.00
R7912:Lamp3	UTSW	16	19655497	missense	probably damaging	1.00
R8036:Lamp3	UTSW	16	19701059	missense	probably damaging	1.00
R8776:Lamp3	UTSW	16	19655502	missense	probably damaging	1.00
R8776-TAIL:Lamp3	UTSW	16	19655502	missense	probably damaging	1.00
RF018:Lamp3	UTSW	16	19701250	missense	probably benign
X0025:Lamp3	UTSW	16	19701056	missense	possibly damaging	0.82
X0063:Lamp3	UTSW	16	19700885	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGATCTAGCTTGAAATTTAGCACTG -3'
(R):5'- ATGATGTCACACAATTGGGGAG -3'

Sequencing Primer
(F):5'- TGAATCACTGGCACTAGACTG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2019-11-26