Mutagenetix > Incidental Mutation

Incidental Mutation 'R9689:Lamp3'

729076

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9689 (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 C at 19518455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 261 (S261G)

Ref Sequence

ENSEMBL: ENSMUSP00000080556 (fasta)

Gene Model

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

AlphaFold

Q7TST5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081880
AA Change: S261G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: S261G

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: 99.5%
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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,942,780 (GRCm39)	V1538E	probably damaging	Het
Ank1	T	C	8: 23,631,253 (GRCm39)	V1833A	probably benign	Het
Apc2	G	A	10: 80,150,733 (GRCm39)	R1929Q	probably damaging	Het
Asb1	A	G	1: 91,474,708 (GRCm39)	I85V	probably damaging	Het
Bco2	A	T	9: 50,445,938 (GRCm39)	I486K	probably damaging	Het
Braf	T	A	6: 39,591,084 (GRCm39)	I792F	probably damaging	Het
Cacng2	T	C	15: 77,879,399 (GRCm39)	K308E	possibly damaging	Het
Ccr6	G	T	17: 8,475,821 (GRCm39)	R342L	possibly damaging	Het
Cdh16	T	A	8: 105,341,108 (GRCm39)	I802F	probably benign	Het
Cftr	T	C	6: 18,313,649 (GRCm39)	I1291T	probably damaging	Het
CN725425	T	A	15: 91,120,030 (GRCm39)	D50E	possibly damaging	Het
Cnga1	T	C	5: 72,762,170 (GRCm39)	Y448C	probably benign	Het
Cntnap1	T	C	11: 101,072,178 (GRCm39)	I477T	probably damaging	Het
Col18a1	G	A	10: 76,916,578 (GRCm39)	Q366*	probably null	Het
Csf3	C	A	11: 98,592,949 (GRCm39)	A104D	probably benign	Het
Dmbt1	A	G	7: 130,660,015 (GRCm39)	H422R	unknown	Het
Dnah12	A	G	14: 26,590,871 (GRCm39)	D3325G	probably null	Het
Dnah17	T	C	11: 117,963,731 (GRCm39)	D2514G	probably damaging	Het
Fgf9	T	A	14: 58,310,680 (GRCm39)	H56Q	probably damaging	Het
Fgfr3	A	T	5: 33,892,248 (GRCm39)	Y689F	probably damaging	Het
Fhip2a	G	A	19: 57,369,710 (GRCm39)	V418I	probably benign	Het
Gar1	A	T	3: 129,624,269 (GRCm39)	D74E	probably damaging	Het
Helq	T	C	5: 100,934,927 (GRCm39)	K488E	possibly damaging	Het
Hmg20a	A	G	9: 56,381,823 (GRCm39)	H33R	possibly damaging	Het
Igsf10	T	C	3: 59,233,624 (GRCm39)	D1703G	probably damaging	Het
Jph3	A	T	8: 122,480,377 (GRCm39)	I352F	probably benign	Het
Kng1	T	C	16: 22,879,224 (GRCm39)	F96S	probably damaging	Het
Krtap5-2	C	A	7: 141,729,029 (GRCm39)	S217I	unknown	Het
Macf1	A	G	4: 123,365,654 (GRCm39)	F3036L	probably benign	Het
Map4k4	G	A	1: 40,058,722 (GRCm39)	R972H	possibly damaging	Het
Mccc1	C	T	3: 36,030,903 (GRCm39)	D388N	probably benign	Het
Mcoln1	T	A	8: 3,557,436 (GRCm39)	Y147*	probably null	Het
Mei1	T	C	15: 81,997,129 (GRCm39)	S622P		Het
Ms4a5	T	C	19: 11,254,058 (GRCm39)	I136M	possibly damaging	Het
Nav3	A	G	10: 109,605,034 (GRCm39)	L1013P	probably damaging	Het
Ndrg2	T	C	14: 52,146,071 (GRCm39)	N170S	probably damaging	Het
Ndufa12	G	A	10: 94,035,832 (GRCm39)	G40D	probably damaging	Het
Ogdhl	T	A	14: 32,059,523 (GRCm39)	V390E	probably damaging	Het
Or10ak12	A	C	4: 118,666,999 (GRCm39)	S21A	probably benign	Het
Or1e26	T	C	11: 73,479,686 (GRCm39)	R293G	probably damaging	Het
Or4d10	A	T	19: 12,051,567 (GRCm39)	I143K	possibly damaging	Het
Or4f6	T	A	2: 111,839,124 (GRCm39)	M136L	probably benign	Het
Or8g37	A	T	9: 39,731,801 (GRCm39)	I289F	possibly damaging	Het
Osgin1	A	G	8: 120,172,247 (GRCm39)	D347G	possibly damaging	Het
Oxct2a	A	T	4: 123,216,687 (GRCm39)	N231K	probably damaging	Het
Pak6	C	T	2: 118,520,243 (GRCm39)	T78M	probably benign	Het
Pde4dip	T	C	3: 97,649,841 (GRCm39)	Y1006C	probably damaging	Het
Psg18	A	G	7: 18,084,880 (GRCm39)	I193T	probably benign	Het
Psmd2	C	A	16: 20,479,173 (GRCm39)	H677Q	probably benign	Het
Resf1	T	A	6: 149,229,766 (GRCm39)	C937*	probably null	Het
Scaf11	C	T	15: 96,316,195 (GRCm39)	R1123H	probably damaging	Het
Setx	A	T	2: 29,051,555 (GRCm39)	S2036C	probably damaging	Het
Skint6	A	G	4: 113,093,546 (GRCm39)	F199S	probably damaging	Het
Slc3a2	A	T	19: 8,686,594 (GRCm39)	S367R	probably damaging	Het
Spidr	T	C	16: 15,871,304 (GRCm39)	D222G	probably damaging	Het
Styxl1	T	C	5: 135,799,190 (GRCm39)	E8G	probably null	Het
Sycp2l	T	A	13: 41,295,256 (GRCm39)	F308I	probably damaging	Het
Syk	A	C	13: 52,778,808 (GRCm39)	K298T	probably benign	Het
Tcp11	T	A	17: 28,286,028 (GRCm39)	Q529L	possibly damaging	Het
Tgfbi	A	G	13: 56,762,100 (GRCm39)	Y61C	probably damaging	Het
Tlr9	G	A	9: 106,100,721 (GRCm39)	R4H	probably benign	Het
Top2a	A	C	11: 98,914,883 (GRCm39)	S4A	probably benign	Het
Ttc4	G	T	4: 106,528,919 (GRCm39)	H166N	probably benign	Het
Ube2o	C	A	11: 116,435,639 (GRCm39)	R383L	possibly damaging	Het
Umod	A	G	7: 119,076,517 (GRCm39)	V83A	possibly 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
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
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
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'- TGAATCACTGGCACTAGACTG -3'
(R):5'- TGTCACACAATTGGGGAGTTTG -3'

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

Posted On

2022-10-06