Mutagenetix > Incidental Mutation

Incidental Mutation 'R5997:Lamp3'

480656

Institutional Source

Beutler Lab

Gene Symbol

Lamp3

Ensembl Gene

ENSMUSG00000041247

Gene Name

lysosomal-associated membrane protein 3

Synonyms

TSC403, 1200002D17Rik, Cd208, DC-LAMP

MMRRC Submission

044176-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19472131-19525115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19519778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 135 (L135S)

Ref Sequence

ENSEMBL: ENSMUSP00000080556 (fasta)

Gene Model

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

AlphaFold

Q7TST5

Predicted Effect

probably benign
Transcript: ENSMUST00000081880
AA Change: L135S

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: L135S

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: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.5%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	T	5: 124,227,878 (GRCm39)	V121E	possibly damaging	Het
Acsbg3	A	T	17: 57,183,373 (GRCm39)	D38V	probably benign	Het
Adamts20	T	A	15: 94,277,628 (GRCm39)	Y278F	probably damaging	Het
Adcy7	A	T	8: 89,053,020 (GRCm39)	D972V	probably benign	Het
Adgrf3	C	A	5: 30,403,360 (GRCm39)		probably null	Het
Ahdc1	G	T	4: 132,791,206 (GRCm39)	G816C	probably benign	Het
Aifm3	A	G	16: 17,319,994 (GRCm39)	K283E	probably benign	Het
Akap6	T	C	12: 52,984,016 (GRCm39)		probably null	Het
Ank1	T	C	8: 23,589,678 (GRCm39)	L593P	probably damaging	Het
Apol11b	T	A	15: 77,519,697 (GRCm39)	T128S	probably benign	Het
C1qtnf7	C	A	5: 43,773,427 (GRCm39)	T235K	probably damaging	Het
Camk2a	A	T	18: 61,111,029 (GRCm39)	I73F	probably damaging	Het
Ccdc121rt3	C	T	5: 112,502,874 (GRCm39)	V277M	possibly damaging	Het
Cd109	G	T	9: 78,612,344 (GRCm39)	V1244F	possibly damaging	Het
Cep164	A	G	9: 45,680,761 (GRCm39)	L1240S	possibly damaging	Het
Cnga1	T	A	5: 72,761,918 (GRCm39)	D532V	probably damaging	Het
Cyp4a14	A	T	4: 115,353,297 (GRCm39)	L5*	probably null	Het
Cyp4a30b	A	T	4: 115,316,588 (GRCm39)	K405*	probably null	Het
Dchs1	T	C	7: 105,403,302 (GRCm39)	D3080G	probably benign	Het
Ddx1	T	C	12: 13,287,800 (GRCm39)	D168G	probably damaging	Het
Dhx57	T	G	17: 80,553,235 (GRCm39)	K1231Q	probably damaging	Het
Dnah14	A	G	1: 181,597,670 (GRCm39)	N3640D	probably benign	Het
Dock4	T	A	12: 40,805,833 (GRCm39)	L935Q	probably damaging	Het
Dus2	A	T	8: 106,772,698 (GRCm39)	R269S	probably benign	Het
E230025N22Rik	G	A	18: 36,822,161 (GRCm39)	R201C	possibly damaging	Het
Erbb3	G	A	10: 128,419,054 (GRCm39)	T269M	probably damaging	Het
Fbxo43	T	C	15: 36,162,239 (GRCm39)	R323G	probably damaging	Het
Fktn	A	G	4: 53,735,061 (GRCm39)	H233R	probably benign	Het
Ftsj3	A	T	11: 106,143,077 (GRCm39)	D412E	probably damaging	Het
Fzd7	A	T	1: 59,523,703 (GRCm39)	M529L	probably benign	Het
Fzr1	T	A	10: 81,206,660 (GRCm39)		probably null	Het
Ganc	T	G	2: 120,261,086 (GRCm39)	V257G	possibly damaging	Het
Garin1a	T	A	6: 29,290,423 (GRCm39)	L267*	probably null	Het
Gm4131	T	C	14: 62,702,207 (GRCm39)	K254E	probably damaging	Het
Gm7347	G	T	5: 26,262,247 (GRCm39)	Y91*	probably null	Het
Gm9857	G	A	3: 108,847,481 (GRCm39)		probably benign	Het
Grpel1	T	C	5: 36,622,592 (GRCm39)	S19P	probably benign	Het
Gtf3c4	T	C	2: 28,723,723 (GRCm39)	K670E	possibly damaging	Het
H2bc7	G	A	13: 23,758,277 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,579,924 (GRCm39)	Q1938K	possibly damaging	Het
Hnrnpk	T	C	13: 58,546,971 (GRCm39)	D71G	probably damaging	Het
Hspa4l	G	A	3: 40,722,411 (GRCm39)	R311H	probably damaging	Het
Igkv3-5	T	A	6: 70,640,688 (GRCm39)	F56L	probably benign	Het
Igkv6-20	T	A	6: 70,312,898 (GRCm39)	T92S	possibly damaging	Het
Krt8	C	T	15: 101,909,029 (GRCm39)	V200I	possibly damaging	Het
Lamb2	A	T	9: 108,357,587 (GRCm39)	T66S	possibly damaging	Het
Lrguk	A	G	6: 34,106,078 (GRCm39)	Y701C	probably damaging	Het
Mcc	G	T	18: 44,582,388 (GRCm39)	L588M	probably damaging	Het
Mcidas	T	A	13: 113,135,120 (GRCm39)	L234Q	probably damaging	Het
Mtmr14	T	A	6: 113,257,575 (GRCm39)	L208Q	probably damaging	Het
Myof	A	G	19: 37,893,747 (GRCm39)	F1139L	possibly damaging	Het
Nlrp14	C	A	7: 106,781,703 (GRCm39)	T300K	probably benign	Het
Or2d36	A	T	7: 106,746,535 (GRCm39)	E4V	possibly damaging	Het
Or2m13	T	A	16: 19,226,694 (GRCm39)	H24L	probably benign	Het
Or5b118	A	G	19: 13,448,870 (GRCm39)	I179V	probably benign	Het
Or8b41	A	T	9: 38,055,097 (GRCm39)	Y217F	probably damaging	Het
Orc2	A	G	1: 58,511,547 (GRCm39)	I354T	probably damaging	Het
Pard3b	G	T	1: 62,115,568 (GRCm39)	S140I	probably damaging	Het
Pcgf5	A	G	19: 36,412,003 (GRCm39)	D49G	probably benign	Het
Pcsk6	T	C	7: 65,609,041 (GRCm39)	F388S	probably damaging	Het
Prokr2	A	C	2: 132,223,362 (GRCm39)	I60S	probably damaging	Het
Rab33b	A	G	3: 51,391,900 (GRCm39)	T50A	possibly damaging	Het
Rbms3	T	C	9: 116,548,457 (GRCm39)	D61G	probably damaging	Het
Rhcg	T	A	7: 79,250,262 (GRCm39)	K274*	probably null	Het
Rnf112	C	T	11: 61,341,848 (GRCm39)	V319M	possibly damaging	Het
Rnf44	A	T	13: 54,830,613 (GRCm39)	S265T	possibly damaging	Het
Sf3a3	A	G	4: 124,615,851 (GRCm39)	D168G	probably damaging	Het
Sik2	A	G	9: 50,806,642 (GRCm39)		probably null	Het
Slco1a5	T	A	6: 142,198,839 (GRCm39)	L275F	probably benign	Het
Smtnl1	T	C	2: 84,645,722 (GRCm39)	H383R	probably damaging	Het
Spns3	T	G	11: 72,429,904 (GRCm39)	T175P	probably damaging	Het
Togaram1	A	G	12: 65,042,312 (GRCm39)	T1174A	probably benign	Het
Tradd	C	T	8: 105,987,277 (GRCm39)	E10K	possibly damaging	Het
Ttc7b	A	T	12: 100,339,819 (GRCm39)	Y579N	probably damaging	Het
Uncx	G	A	5: 139,533,344 (GRCm39)	G470R	probably damaging	Het
Vav3	T	A	3: 109,408,777 (GRCm39)	M177K	probably damaging	Het
Wfs1	A	T	5: 37,125,094 (GRCm39)	I599N	probably damaging	Het
Zfp454	G	A	11: 50,764,449 (GRCm39)	H217Y	probably damaging	Het

Other mutations in Lamp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01901:Lamp3	APN	16	19,492,169 (GRCm39)	missense	probably damaging	1.00
IGL02505:Lamp3	APN	16	19,474,207 (GRCm39)	missense	possibly damaging	0.48
IGL02892:Lamp3	APN	16	19,494,802 (GRCm39)	missense	probably damaging	1.00
IGL03228:Lamp3	APN	16	19,494,817 (GRCm39)	missense	possibly damaging	0.94
PIT4453001:Lamp3	UTSW	16	19,492,210 (GRCm39)	missense	probably benign	0.14
R0295:Lamp3	UTSW	16	19,519,858 (GRCm39)	nonsense	probably null
R0419:Lamp3	UTSW	16	19,492,302 (GRCm39)	missense	probably damaging	1.00
R1568:Lamp3	UTSW	16	19,492,275 (GRCm39)	missense	probably damaging	1.00
R1702:Lamp3	UTSW	16	19,494,822 (GRCm39)	missense	probably benign	0.11
R2018:Lamp3	UTSW	16	19,519,961 (GRCm39)	missense	probably benign	0.02
R2019:Lamp3	UTSW	16	19,519,961 (GRCm39)	missense	probably benign	0.02
R4072:Lamp3	UTSW	16	19,519,466 (GRCm39)	missense	possibly damaging	0.89
R4073:Lamp3	UTSW	16	19,519,466 (GRCm39)	missense	possibly damaging	0.89
R4075:Lamp3	UTSW	16	19,519,466 (GRCm39)	missense	possibly damaging	0.89
R4076:Lamp3	UTSW	16	19,519,466 (GRCm39)	missense	possibly damaging	0.89
R4333:Lamp3	UTSW	16	19,492,186 (GRCm39)	missense	probably benign	0.02
R4457:Lamp3	UTSW	16	19,492,279 (GRCm39)	missense	probably benign	0.19
R4868:Lamp3	UTSW	16	19,520,040 (GRCm39)	missense	probably benign	0.01
R4876:Lamp3	UTSW	16	19,474,220 (GRCm39)	missense	probably damaging	0.97
R5766:Lamp3	UTSW	16	19,520,067 (GRCm39)	missense	probably damaging	0.99
R5832:Lamp3	UTSW	16	19,520,070 (GRCm39)	missense	probably damaging	0.98
R6000:Lamp3	UTSW	16	19,519,698 (GRCm39)	missense	possibly damaging	0.88
R6088:Lamp3	UTSW	16	19,492,148 (GRCm39)	missense	probably damaging	1.00
R6332:Lamp3	UTSW	16	19,518,431 (GRCm39)	missense	probably damaging	1.00
R6636:Lamp3	UTSW	16	19,519,983 (GRCm39)	missense	probably benign
R6637:Lamp3	UTSW	16	19,519,983 (GRCm39)	missense	probably benign
R6881:Lamp3	UTSW	16	19,518,368 (GRCm39)	missense	probably benign	0.39
R6966:Lamp3	UTSW	16	19,518,403 (GRCm39)	nonsense	probably null
R7002:Lamp3	UTSW	16	19,474,172 (GRCm39)	missense	possibly damaging	0.89
R7067:Lamp3	UTSW	16	19,518,413 (GRCm39)	missense	probably damaging	0.99
R7425:Lamp3	UTSW	16	19,518,362 (GRCm39)	critical splice donor site	probably null
R7781:Lamp3	UTSW	16	19,518,440 (GRCm39)	missense	possibly damaging	0.86
R7866:Lamp3	UTSW	16	19,518,490 (GRCm39)	missense	probably benign	0.01
R7894:Lamp3	UTSW	16	19,474,141 (GRCm39)	missense	probably damaging	1.00
R7912:Lamp3	UTSW	16	19,474,247 (GRCm39)	missense	probably damaging	1.00
R8036:Lamp3	UTSW	16	19,519,809 (GRCm39)	missense	probably damaging	1.00
R8776:Lamp3	UTSW	16	19,474,252 (GRCm39)	missense	probably damaging	1.00
R8776-TAIL:Lamp3	UTSW	16	19,474,252 (GRCm39)	missense	probably damaging	1.00
R8836:Lamp3	UTSW	16	19,519,788 (GRCm39)	missense	probably benign	0.16
R9314:Lamp3	UTSW	16	19,492,192 (GRCm39)	missense	probably benign	0.06
R9533:Lamp3	UTSW	16	19,519,808 (GRCm39)	missense	probably benign	0.02
R9544:Lamp3	UTSW	16	19,494,832 (GRCm39)	critical splice acceptor site	probably null
R9588:Lamp3	UTSW	16	19,494,832 (GRCm39)	critical splice acceptor site	probably null
R9689:Lamp3	UTSW	16	19,518,455 (GRCm39)	missense	possibly damaging	0.95
RF018:Lamp3	UTSW	16	19,520,000 (GRCm39)	missense	probably benign
X0025:Lamp3	UTSW	16	19,519,806 (GRCm39)	missense	possibly damaging	0.82
X0063:Lamp3	UTSW	16	19,519,635 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGAACAGGTGAGGTCGTTGATC -3'
(R):5'- ACATTCAAATGGCTGCTGAAAC -3'

Sequencing Primer
(F):5'- CAGGTGAGGTCGTTGATCTGTCC -3'
(R):5'- CATTCAAATGGCTGCTGAAACTTCAG -3'

Posted On

2017-06-26