Mutagenetix > Incidental Mutation

Incidental Mutation 'R7912:Lamp3'

610629

Institutional Source

Beutler Lab

Gene Symbol

Lamp3

Ensembl Gene

ENSMUSG00000041247

Gene Name

lysosomal-associated membrane protein 3

Synonyms

TSC403, 1200002D17Rik, Cd208, DC-LAMP

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7912 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19472131-19525115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19474247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 376 (T376S)

Ref Sequence

ENSEMBL: ENSMUSP00000080556 (fasta)

Gene Model

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

AlphaFold

Q7TST5

Predicted Effect

probably damaging
Transcript: ENSMUST00000081880
AA Change: T376S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: T376S

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: 99.9%
10x: 99.6%
20x: 98.6%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,120,451 (GRCm39)	T403A	probably benign	Het
Aco1	T	C	4: 40,184,983 (GRCm39)	L551S	probably damaging	Het
Acvr1	C	T	2: 58,364,230 (GRCm39)	V200I	probably damaging	Het
Adam26b	T	A	8: 43,973,245 (GRCm39)	T586S	probably benign	Het
Ahctf1	T	C	1: 179,580,656 (GRCm39)	R1849G	probably benign	Het
Alox5	T	A	6: 116,389,497 (GRCm39)	D590V	probably benign	Het
Anapc5	A	G	5: 122,931,498 (GRCm39)		probably null	Het
Anln	T	C	9: 22,269,965 (GRCm39)	E743G	possibly damaging	Het
Anpep	T	C	7: 79,488,174 (GRCm39)	K496R	probably benign	Het
Aox3	T	A	1: 58,181,855 (GRCm39)	S281T	probably benign	Het
Arhgef11	C	A	3: 87,640,529 (GRCm39)	P1258T	probably damaging	Het
Atp2c2	A	T	8: 120,456,917 (GRCm39)	D173V	possibly damaging	Het
Aurka	T	G	2: 172,210,949 (GRCm39)	D22A	probably benign	Het
B3gat1	A	T	9: 26,666,882 (GRCm39)	D51V	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCAC	3: 95,795,483 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,466 (GRCm39)		probably benign	Het
BC028528	TTC	TTCGGTGGTCACTGGCTC	3: 95,795,456 (GRCm39)		probably benign	Het
BC028528	GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	3: 95,795,454 (GRCm39)		probably benign	Het
BC028528	CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	3: 95,795,452 (GRCm39)		probably benign	Het
BC028528	CACTG	CACTGATTCTGTGGTGACTG	3: 95,795,450 (GRCm39)		probably benign	Het
Bcas3	G	A	11: 85,261,954 (GRCm39)	G96S	probably damaging	Het
Bltp1	C	T	3: 37,061,218 (GRCm39)	A3309V	probably damaging	Het
C2cd4d	T	A	3: 94,270,860 (GRCm39)	V42D	probably damaging	Het
Ccdc127	T	C	13: 74,505,151 (GRCm39)	L233P	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,578 (GRCm39)	K573E	probably damaging	Het
Cend1	T	C	7: 141,007,544 (GRCm39)	D92G	probably damaging	Het
Crb1	T	C	1: 139,170,909 (GRCm39)	D827G	probably damaging	Het
Cyld	G	T	8: 89,461,525 (GRCm39)	C654F	probably damaging	Het
Fastkd5	C	T	2: 130,458,557 (GRCm39)	G11D	probably damaging	Het
Foxj3	A	T	4: 119,477,252 (GRCm39)	N354I	possibly damaging	Het
Gimap8	G	T	6: 48,627,999 (GRCm39)	C252F	probably benign	Het
Glra1	T	C	11: 55,411,821 (GRCm39)	Y329C	probably damaging	Het
Gm10330	G	A	12: 23,829,980 (GRCm39)	P67L	probably benign	Het
Gpm6a	T	C	8: 55,508,469 (GRCm39)	I226T	possibly damaging	Het
Gstt2	A	G	10: 75,668,418 (GRCm39)	F121S	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,310,311 (GRCm39)	F3302L	probably benign	Het
Hormad2	T	C	11: 4,358,841 (GRCm39)	T189A	probably damaging	Het
Hps5	A	T	7: 46,418,826 (GRCm39)	S815T	probably benign	Het
Hydin	G	T	8: 111,282,239 (GRCm39)	R3113L	possibly damaging	Het
Inava	A	G	1: 136,155,279 (GRCm39)	S109P	probably benign	Het
Inpp5f	T	A	7: 128,294,037 (GRCm39)	C698S	probably benign	Het
Irs1	T	G	1: 82,267,605 (GRCm39)	M204L	probably benign	Het
Itfg1	T	C	8: 86,490,909 (GRCm39)	D340G	probably damaging	Het
Itm2c	T	A	1: 85,833,032 (GRCm39)	I122N	probably damaging	Het
Lrba	T	A	3: 86,622,872 (GRCm39)	I2418N	probably damaging	Het
Lrcol1	T	A	5: 110,502,715 (GRCm39)	V161D	probably damaging	Het
Lrp2	T	A	2: 69,259,016 (GRCm39)	Q4558L	probably benign	Het
Lrrfip2	A	T	9: 111,034,836 (GRCm39)	Q175L	probably damaging	Het
Mib1	T	G	18: 10,778,187 (GRCm39)	S572R	probably damaging	Het
Mis18bp1	A	T	12: 65,199,532 (GRCm39)	D456E	possibly damaging	Het
Mlh1	T	A	9: 111,090,581 (GRCm39)	T116S	possibly damaging	Het
Mpp4	T	C	1: 59,160,521 (GRCm39)	N594S	probably damaging	Het
Nbas	A	G	12: 13,455,458 (GRCm39)	E1224G	possibly damaging	Het
Neb	T	C	2: 52,110,997 (GRCm39)	D163G	possibly damaging	Het
Nectin4	T	C	1: 171,207,941 (GRCm39)	V111A	possibly damaging	Het
Nfatc2ip	G	A	7: 125,989,617 (GRCm39)	R256*	probably null	Het
Nlgn2	G	A	11: 69,716,760 (GRCm39)	R594C	probably damaging	Het
Nufip1	A	G	14: 76,352,442 (GRCm39)	S198G	possibly damaging	Het
Or2n1	T	C	17: 38,486,158 (GRCm39)	F61S	probably damaging	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or8b49	T	C	9: 38,506,446 (GRCm39)	F310L	probably benign	Het
Or8s8	C	T	15: 98,354,574 (GRCm39)	H128Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,896 (GRCm39)	M317I	probably benign	Het
Phactr1	A	T	13: 42,863,239 (GRCm39)	I55L	probably benign	Het
Prl3c1	G	A	13: 27,383,367 (GRCm39)	R31Q	probably benign	Het
Prss55	A	T	14: 64,319,180 (GRCm39)	F59Y	possibly damaging	Het
Ptprb	T	C	10: 116,158,392 (GRCm39)	W488R	probably damaging	Het
Qrich2	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	11: 116,346,608 (GRCm39)		probably benign	Het
Ros1	G	T	10: 52,044,791 (GRCm39)	T172K	probably damaging	Het
Rtel1	C	T	2: 180,997,869 (GRCm39)	R1206W	possibly damaging	Het
Slf2	A	T	19: 44,930,682 (GRCm39)	K586N	probably damaging	Het
Smc2	T	A	4: 52,450,854 (GRCm39)	M224K	probably benign	Het
Spata31d1e	A	T	13: 59,890,329 (GRCm39)	I497K	probably damaging	Het
Spinkl	T	C	18: 44,299,716 (GRCm39)	Y83C	probably damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
St13	T	C	15: 81,283,719 (GRCm39)	E26G	possibly damaging	Het
Teddm3	T	A	16: 20,971,699 (GRCm39)	Q290L	probably benign	Het
Tfec	C	A	6: 16,840,467 (GRCm39)		probably null	Het
Trank1	C	A	9: 111,220,596 (GRCm39)	D2444E	probably benign	Het
Ttc17	T	A	2: 94,209,166 (GRCm39)	N96I	probably damaging	Het
Ttn	T	C	2: 76,560,130 (GRCm39)	T29424A	possibly damaging	Het
Tut7	C	A	13: 59,946,819 (GRCm39)	Q1003H	probably damaging	Het
Vmn1r68	G	A	7: 10,261,237 (GRCm39)	T287I	probably benign	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vmn2r92	A	T	17: 18,404,970 (GRCm39)	T705S	possibly damaging	Het
Vps13d	T	C	4: 144,899,697 (GRCm39)	D200G		Het
Wdr48	G	A	9: 119,733,405 (GRCm39)	C84Y	probably damaging	Het
Zscan25	T	A	5: 145,227,321 (GRCm39)	H328Q	probably benign	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
R5997:Lamp3	UTSW	16	19,519,778 (GRCm39)	missense	probably benign	0.22
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
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'- TTTAGTAGATGCCGCCAACGTTC -3'
(R):5'- ATCTGCCCAAGGTTATATAACGAG -3'

Sequencing Primer
(F):5'- CGCCAACGTTCTGGAAATAATG -3'
(R):5'- TGGTTAGATGCCCAGCAGTACAATC -3'

Posted On

2019-12-20