Mutagenetix > Incidental Mutation

Incidental Mutation 'R1488:Lamp5'

165483

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

039540-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1488 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135894159-135911837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135911011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 248 (V248A)

Ref Sequence

ENSEMBL: ENSMUSP00000061180 (fasta)

Gene Model

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

AlphaFold

Q9D387

Predicted Effect

probably benign
Transcript: ENSMUST00000057503
AA Change: V248A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000061180
Gene: ENSMUSG00000027270
AA Change: V248A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123436

Meta Mutation Damage Score

0.1259

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	G	6: 48,910,381 (GRCm39)	N691S	possibly damaging	Het
Arhgap23	A	G	11: 97,391,685 (GRCm39)	S1401G	possibly damaging	Het
Art2b	A	C	7: 101,229,414 (GRCm39)	F162V	probably damaging	Het
Atg4c	T	A	4: 99,109,479 (GRCm39)	W149R	probably damaging	Het
Atxn1l	A	G	8: 110,460,049 (GRCm39)	I71T	probably benign	Het
Axdnd1	T	A	1: 156,176,530 (GRCm39)	L748F	probably damaging	Het
Bdh2	A	G	3: 135,002,602 (GRCm39)	Y157C	probably damaging	Het
C2cd4a	G	T	9: 67,738,990 (GRCm39)	R18S	probably benign	Het
Catsperb	A	G	12: 101,560,526 (GRCm39)	H839R	probably damaging	Het
Ccdc24	C	A	4: 117,727,765 (GRCm39)	S134I	possibly damaging	Het
Cd55	G	T	1: 130,376,115 (GRCm39)	T70K	probably damaging	Het
Cdh10	A	T	15: 19,013,349 (GRCm39)	I650F	probably damaging	Het
Clca3a2	T	A	3: 144,789,925 (GRCm39)	K470N	possibly damaging	Het
Csn2	G	A	5: 87,842,755 (GRCm39)	Q91*	probably null	Het
Ctsh	G	A	9: 89,953,944 (GRCm39)	D218N	possibly damaging	Het
Cyb5r4	C	G	9: 86,911,591 (GRCm39)	Y88*	probably null	Het
Dgkq	A	G	5: 108,798,743 (GRCm39)	F601S	probably damaging	Het
Eci2	A	G	13: 35,161,916 (GRCm39)	V352A	probably benign	Het
Krt28	T	C	11: 99,255,997 (GRCm39)	T421A	probably benign	Het
Lin9	T	A	1: 180,515,850 (GRCm39)	L483Q	possibly damaging	Het
Lrp1b	C	A	2: 41,392,036 (GRCm39)	M509I	probably benign	Het
Lrrfip1	T	C	1: 91,042,354 (GRCm39)	V253A	probably damaging	Het
Mpdz	C	A	4: 81,266,945 (GRCm39)	E981*	probably null	Het
Mpo	A	C	11: 87,688,256 (GRCm39)	N305T	probably damaging	Het
Or2y1	A	G	11: 49,385,945 (GRCm39)	E195G	probably benign	Het
Or51a24	T	C	7: 103,733,859 (GRCm39)	I143V	probably benign	Het
Or5p79	A	T	7: 108,221,696 (GRCm39)	I226F	probably damaging	Het
Papss2	T	C	19: 32,614,490 (GRCm39)	S69P	probably benign	Het
Pcdhb22	A	G	18: 37,652,941 (GRCm39)	T470A	possibly damaging	Het
Plce1	A	G	19: 38,705,247 (GRCm39)	D884G	possibly damaging	Het
Prex2	T	A	1: 11,263,752 (GRCm39)	I1239K	probably benign	Het
Prkd2	T	A	7: 16,592,364 (GRCm39)	F625I	probably damaging	Het
Rab20	A	T	8: 11,504,268 (GRCm39)	V144E	probably benign	Het
Rnf213	A	G	11: 119,371,715 (GRCm39)	N4840S	probably benign	Het
Scaf8	T	G	17: 3,247,872 (GRCm39)	M1065R	probably damaging	Het
Slco3a1	A	G	7: 73,996,449 (GRCm39)	L319P	possibly damaging	Het
Slit1	A	G	19: 41,596,824 (GRCm39)	C1092R	probably damaging	Het
Tlr4	A	G	4: 66,757,786 (GRCm39)	D193G	probably damaging	Het
Tmem145	T	A	7: 25,006,860 (GRCm39)		probably null	Het
Tmem184a	T	A	5: 139,793,395 (GRCm39)	K235N	probably benign	Het
Tnpo1	A	T	13: 98,993,415 (GRCm39)	D590E	probably damaging	Het
Trio	C	A	15: 27,741,053 (GRCm39)	G2724V	probably damaging	Het
Ttc6	A	T	12: 57,696,301 (GRCm39)	Y34F	possibly damaging	Het
Tuba4a	T	C	1: 75,193,045 (GRCm39)	T190A	probably benign	Het
Tubgcp4	T	G	2: 121,007,031 (GRCm39)	V136G	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r74	T	C	7: 11,581,510 (GRCm39)	I270T	probably benign	Het
Vmn2r103	A	T	17: 20,013,922 (GRCm39)	E238V	probably damaging	Het
Vmn2r60	T	A	7: 41,786,137 (GRCm39)	F313L	probably benign	Het
Zfp710	T	C	7: 79,731,752 (GRCm39)	Y310H	probably 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
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
R6703: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'- TCTGCTAGGAGGGCCTAGAATTCAG -3'
(R):5'- TCCACTTTCTAAATGCAAGGGCCAC -3'

Sequencing Primer
(F):5'- GGGCCTAGAATTCAGAATATGTCAC -3'
(R):5'- CGTGCTGTAGACTTACAAAGTCAG -3'

Posted On

2014-03-28