Mutagenetix > Incidental Mutation

Incidental Mutation 'R6703:Lamp5'

528261

Institutional Source

Beutler Lab

Gene Symbol

Lamp5

Ensembl Gene

ENSMUSG00000027270

Gene Name

lysosomal-associated membrane protein family, member 5

Synonyms

6330527O06Rik, BAD-LAMP, 3110035N03Rik

MMRRC Submission

044821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6703 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135894159-135911837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 135901483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 102 (N102K)

Ref Sequence

ENSEMBL: ENSMUSP00000061180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057503] [ENSMUST00000144403]

AlphaFold

Q9D387

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057503
AA Change: N102K

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061180
Gene: ENSMUSG00000027270
AA Change: N102K

Domain	Start	End	E-Value	Type
Pfam:Lamp	26	268	8.3e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143777

Predicted Effect

probably benign
Transcript: ENSMUST00000144403

SMART Domains

Protein: ENSMUSP00000120703
Gene: ENSMUSG00000027270

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154674

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,497,558 (GRCm39)	Y66*	probably null	Het
Akap13	T	C	7: 75,252,646 (GRCm39)	S259P	probably damaging	Het
Aoc1	A	C	6: 48,882,648 (GRCm39)	T197P	probably damaging	Het
Blnk	A	T	19: 40,950,950 (GRCm39)		probably null	Het
Ccser1	A	T	6: 61,615,495 (GRCm39)	K94*	probably null	Het
Cfap54	T	A	10: 92,704,596 (GRCm39)	D2828V	unknown	Het
Clec4n	A	G	6: 123,212,553 (GRCm39)	Q89R	probably null	Het
Col6a3	T	C	1: 90,707,161 (GRCm39)	D1984G	unknown	Het
Col6a3	C	T	1: 90,720,184 (GRCm39)	R1552Q	probably benign	Het
Csnk2a1	A	G	2: 152,100,608 (GRCm39)	T93A	probably benign	Het
Dna2	T	A	10: 62,809,073 (GRCm39)	I1055N	possibly damaging	Het
Dnm3	A	G	1: 162,146,256 (GRCm39)	F296L	probably benign	Het
Dock7	T	C	4: 98,834,909 (GRCm39)	E1822G	probably damaging	Het
Dpyd	A	T	3: 118,690,849 (GRCm39)		probably null	Het
Dyrk4	A	T	6: 126,867,045 (GRCm39)	I329N	probably damaging	Het
E4f1	C	A	17: 24,666,105 (GRCm39)	R231L	probably damaging	Het
Fat1	A	G	8: 45,406,083 (GRCm39)	T945A	probably benign	Het
Fkbp7	A	T	2: 76,502,106 (GRCm39)	M99K	probably damaging	Het
Flad1	T	C	3: 89,315,897 (GRCm39)	S222G	probably benign	Het
H1f7	C	A	15: 98,155,153 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,268,653 (GRCm39)		probably benign	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Itln1	C	T	1: 171,358,151 (GRCm39)	C199Y	probably damaging	Het
Kctd3	G	A	1: 188,728,726 (GRCm39)	R137C	probably damaging	Het
Larp7	C	T	3: 127,337,873 (GRCm39)	M395I	probably damaging	Het
Lpcat3	C	T	6: 124,640,185 (GRCm39)	A5V	probably benign	Het
Lrrc43	C	T	5: 123,637,532 (GRCm39)	T233M	possibly damaging	Het
Map4k1	T	G	7: 28,701,821 (GRCm39)	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,773,525 (GRCm39)	C134S	possibly damaging	Het
Mgst2	T	C	3: 51,572,033 (GRCm39)		probably null	Het
Mug2	T	G	6: 122,055,653 (GRCm39)	I1112R	probably benign	Het
Myo15a	A	G	11: 60,383,818 (GRCm39)	I1622V	probably benign	Het
Ndor1	A	G	2: 25,139,902 (GRCm39)	F142S	possibly damaging	Het
Nectin3	A	G	16: 46,284,205 (GRCm39)	S160P	probably damaging	Het
Nudt16l2	T	C	9: 105,021,758 (GRCm39)	Y96C	possibly damaging	Het
Nynrin	A	G	14: 56,101,935 (GRCm39)	T535A	possibly damaging	Het
Or2m13	T	C	16: 19,226,122 (GRCm39)	I215V	probably benign	Het
Or4k15	A	G	14: 50,364,688 (GRCm39)	Y218C	probably damaging	Het
Or4k42	T	A	2: 111,320,454 (GRCm39)		probably null	Het
Or8b51	A	T	9: 38,569,073 (GRCm39)	I205N	possibly damaging	Het
Pcdh10	G	A	3: 45,335,734 (GRCm39)	V683M	possibly damaging	Het
Per2	C	T	1: 91,355,671 (GRCm39)	E696K	probably damaging	Het
Pif1	T	C	9: 65,500,545 (GRCm39)	V490A	probably damaging	Het
Plekhn1	A	T	4: 156,309,250 (GRCm39)	Y219N	probably benign	Het
Ppl	T	G	16: 4,907,328 (GRCm39)	E989A	probably damaging	Het
Prkdc	T	G	16: 15,488,392 (GRCm39)	S505A	probably benign	Het
Psg16	T	C	7: 16,824,321 (GRCm39)	L35P	probably damaging	Het
Ptges	A	G	2: 30,793,133 (GRCm39)	V33A	possibly damaging	Het
Qser1	G	A	2: 104,607,670 (GRCm39)	T1416I	possibly damaging	Het
Rab3a	A	G	8: 71,209,095 (GRCm39)	D77G	probably damaging	Het
Rtn3	A	T	19: 7,412,410 (GRCm39)	V788D	probably damaging	Het
Rtn4r	T	C	16: 17,969,055 (GRCm39)	L161P	probably damaging	Het
Rtn4rl1	G	A	11: 75,156,354 (GRCm39)	R262Q	probably benign	Het
S1pr3	A	T	13: 51,573,475 (GRCm39)	I219F	probably damaging	Het
Sec23b	A	T	2: 144,401,109 (GRCm39)		probably null	Het
Senp6	A	G	9: 80,029,203 (GRCm39)	E522G	probably damaging	Het
Slc27a6	A	G	18: 58,742,911 (GRCm39)	N533S	probably benign	Het
Slc39a5	T	A	10: 128,233,651 (GRCm39)	D282V	probably damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snx14	A	G	9: 88,304,967 (GRCm39)	I109T	probably damaging	Het
Sorl1	A	T	9: 41,982,497 (GRCm39)	V361E	probably damaging	Het
Sox5	G	T	6: 143,779,191 (GRCm39)	S648R	probably damaging	Het
Sptbn2	G	A	19: 4,799,842 (GRCm39)	S2161N	probably benign	Het
Sptbn2	C	A	19: 4,799,843 (GRCm39)	S2161R	probably benign	Het
St6galnac2	A	G	11: 116,575,213 (GRCm39)	S209P	probably benign	Het
Tmub1	T	C	5: 24,651,944 (GRCm39)	S7G	probably benign	Het
Trarg1	A	T	11: 76,584,988 (GRCm39)		probably null	Het
Trpm5	C	A	7: 142,623,055 (GRCm39)		probably benign	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Zfp438	A	G	18: 5,214,044 (GRCm39)	S305P	probably benign	Het
Zfp780b	T	C	7: 27,671,066 (GRCm39)	T81A	possibly damaging	Het

Other mutations in Lamp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Lamp5	APN	2	135,910,990 (GRCm39)	missense	probably damaging	1.00
IGL02145:Lamp5	APN	2	135,901,509 (GRCm39)	missense	possibly damaging	0.74
IGL03058:Lamp5	APN	2	135,911,047 (GRCm39)	missense	probably benign	0.03
R0392:Lamp5	UTSW	2	135,902,817 (GRCm39)	missense	probably damaging	1.00
R0734:Lamp5	UTSW	2	135,900,950 (GRCm39)	missense	probably damaging	1.00
R1488:Lamp5	UTSW	2	135,911,011 (GRCm39)	missense	probably benign	0.03
R2862:Lamp5	UTSW	2	135,900,866 (GRCm39)	missense	probably benign	0.37
R3954:Lamp5	UTSW	2	135,902,928 (GRCm39)	missense	probably damaging	1.00
R4467:Lamp5	UTSW	2	135,900,940 (GRCm39)	missense	probably damaging	1.00
R4686:Lamp5	UTSW	2	135,900,923 (GRCm39)	missense	probably damaging	1.00
R4745:Lamp5	UTSW	2	135,902,786 (GRCm39)	missense	probably benign	0.09
R6394:Lamp5	UTSW	2	135,902,929 (GRCm39)	missense	possibly damaging	0.61
R6701:Lamp5	UTSW	2	135,901,483 (GRCm39)	missense	possibly damaging	0.51
R6702:Lamp5	UTSW	2	135,901,483 (GRCm39)	missense	possibly damaging	0.51
R6736:Lamp5	UTSW	2	135,901,483 (GRCm39)	missense	possibly damaging	0.51
R7237:Lamp5	UTSW	2	135,901,755 (GRCm39)	missense	probably benign	0.29
R7347:Lamp5	UTSW	2	135,902,878 (GRCm39)	missense	probably benign	0.10
R8895:Lamp5	UTSW	2	135,902,874 (GRCm39)	missense	probably benign	0.00
R9051:Lamp5	UTSW	2	135,911,054 (GRCm39)	missense	probably benign	0.15
R9205:Lamp5	UTSW	2	135,901,521 (GRCm39)	missense	probably damaging	1.00
R9786:Lamp5	UTSW	2	135,910,998 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCTACCCGCATGTTCCTG -3'
(R):5'- ACTTTCCTGCCAAGATGGGG -3'

Sequencing Primer
(F):5'- ATGTTCCTGGACCCCGGAG -3'
(R):5'- ATGGGGAGGGTCCTGTGAAC -3'

Posted On

2018-07-24