Mutagenetix > Incidental Mutation

Incidental Mutation 'R1568:Lamp3'

175448

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

039607-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19653378-19706375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19673525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 323 (M323K)

Ref Sequence

ENSEMBL: ENSMUSP00000080556 (fasta)

Gene Model

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

AlphaFold

Q7TST5

Predicted Effect

probably damaging
Transcript: ENSMUST00000081880
AA Change: M323K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: M323K

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: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,589,971	K48E	probably damaging	Het
4931408C20Rik	T	C	1: 26,685,869	T77A	probably benign	Het
Adam18	T	G	8: 24,647,783		probably null	Het
Adgb	A	T	10: 10,442,665	Y138*	probably null	Het
Adra1d	T	C	2: 131,546,172	R488G	possibly damaging	Het
Ahnak	G	A	19: 9,002,375	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,881,116	D690G	probably damaging	Het
Arhgef38	C	T	3: 133,132,464	E21K	probably damaging	Het
Atp8b2	T	C	3: 89,949,848	M402V	probably damaging	Het
Atp8b4	G	T	2: 126,325,394	H1062N	probably benign	Het
Bdnf	A	G	2: 109,723,794	H131R	probably damaging	Het
Cblb	C	T	16: 52,135,829	T265M	probably damaging	Het
Cenpe	T	A	3: 135,239,758	M1011K	probably benign	Het
Clca2	A	T	3: 145,075,649	Y711*	probably null	Het
Clca4a	A	G	3: 144,952,929	Y842H	probably benign	Het
Clspn	T	A	4: 126,581,517	M1021K	probably benign	Het
Cpne8	G	T	15: 90,619,642	R107S	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,177	N3580K	probably damaging	Het
Dsp	T	C	13: 38,175,147	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553	K858R	probably null	Het
Fasn	A	T	11: 120,813,249	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,768,505	I322T	probably benign	Het
Gins2	T	C	8: 120,582,200	D105G	probably damaging	Het
Insr	A	T	8: 3,165,576	D975E	probably benign	Het
Klrc3	T	C	6: 129,639,547	D169G	probably benign	Het
Krt76	T	A	15: 101,885,008	S532C	unknown	Het
Lgmn	T	C	12: 102,394,609	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,776,426	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,086,438	I466N	probably damaging	Het
Magi3	A	C	3: 104,089,527	M234R	probably benign	Het
Myh14	G	A	7: 44,611,698	R1042*	probably null	Het
Nfia	T	G	4: 98,111,224	Y378D	possibly damaging	Het
Npffr1	T	A	10: 61,626,233	S383T	possibly damaging	Het
Olfr1308	C	A	2: 111,960,240	V278F	probably benign	Het
Olfr1410	T	C	1: 92,607,954	L39P	probably damaging	Het
Olfr1466	C	A	19: 13,342,175	P139Q	probably benign	Het
Olfr658	T	A	7: 104,644,770	I199F	probably benign	Het
Osr1	G	A	12: 9,579,798		probably null	Het
Pde4b	A	C	4: 102,597,699	R375S	probably damaging	Het
Pde8a	A	G	7: 81,292,263	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,545,501		probably null	Het
Ppp3ca	A	G	3: 136,928,544	T422A	probably benign	Het
Proser1	T	C	3: 53,477,759	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,020,827	R127S	probably benign	Het
Sec22a	T	C	16: 35,347,628	D171G	probably benign	Het
Secisbp2	A	G	13: 51,673,107	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 32,974,912	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Slc39a10	A	T	1: 46,826,215	S487T	probably benign	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Spag6	A	G	2: 18,733,114	D265G	probably benign	Het
Sybu	G	T	15: 44,718,832	S132*	probably null	Het
Virma	T	C	4: 11,528,776	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 20,814,805	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,453,141	V164I	probably benign	Het
Wfdc13	G	T	2: 164,686,934	A64S	probably damaging	Het
Zfp873	C	A	10: 82,060,279	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,183,646		probably null	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
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
R7781:Lamp3	UTSW	16	19699690	missense	possibly damaging	0.86
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
R8836:Lamp3	UTSW	16	19701038	missense	probably benign	0.16
R9314:Lamp3	UTSW	16	19673442	missense	probably benign	0.06
R9533:Lamp3	UTSW	16	19701058	missense	probably benign	0.02
R9544:Lamp3	UTSW	16	19676082	critical splice acceptor site	probably null
R9588:Lamp3	UTSW	16	19676082	critical splice acceptor site	probably null
R9689:Lamp3	UTSW	16	19699705	missense	possibly damaging	0.95
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'- AACCACATGATCTGGCCCCTTGAC -3'
(R):5'- ATGGCAGGACTCTAAGGTTACCCC -3'

Sequencing Primer
(F):5'- GGAACTGCCTCTTAGGTCCTTAAAG -3'
(R):5'- TCTAAGGTTACCCCAACTGATGG -3'

Posted On

2014-04-24