Mutagenetix > Incidental Mutation

Incidental Mutation 'R2862:Lamp5'

252899

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

040452-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135894159-135911837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135900866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 22 (H22L)

Ref Sequence

ENSEMBL: ENSMUSP00000120703 (fasta)

Gene Model

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

AlphaFold

Q9D387

Predicted Effect

probably benign
Transcript: ENSMUST00000057503
AA Change: H22L

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000061180
Gene: ENSMUSG00000027270
AA Change: H22L

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
AA Change: H22L

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120703
Gene: ENSMUSG00000027270
AA Change: H22L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154674

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,259,057 (GRCm39)	S2928G	probably damaging	Het
Abcd1	T	A	X: 72,781,064 (GRCm39)	L713H	probably damaging	Het
Actg1	T	C	11: 120,237,627 (GRCm39)	I52V	probably benign	Het
Ahi1	T	A	10: 20,857,307 (GRCm39)	V634E	probably damaging	Het
Ang	G	T	14: 51,339,275 (GRCm39)	D139Y	probably damaging	Het
Apoe	T	C	7: 19,431,479 (GRCm39)	Y46C	probably damaging	Het
Aqr	A	T	2: 113,967,398 (GRCm39)	V539D	probably damaging	Het
Btg3	A	G	16: 78,161,868 (GRCm39)	V114A	probably damaging	Het
Cap1	A	T	4: 122,758,518 (GRCm39)	S221T	probably benign	Het
Ccdc121	G	A	5: 31,643,255 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,935,539 (GRCm39)	E392G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,687,792 (GRCm39)		probably null	Het
Cyp2c38	G	A	19: 39,449,138 (GRCm39)	R72W	probably benign	Het
Dnah1	C	T	14: 31,006,719 (GRCm39)	G2199S	probably benign	Het
Dnhd1	A	G	7: 105,361,766 (GRCm39)	E3608G	probably benign	Het
Ears2	A	T	7: 121,662,163 (GRCm39)	L95Q	probably damaging	Het
F5	A	T	1: 164,012,533 (GRCm39)	K482N	probably damaging	Het
Gata5	C	T	2: 179,976,129 (GRCm39)	G12S	possibly damaging	Het
Gm11938	C	A	11: 99,493,972 (GRCm39)	R41L	probably damaging	Het
Grap2	A	T	15: 80,532,165 (GRCm39)	Q260L	probably damaging	Het
Greb1	A	G	12: 16,761,746 (GRCm39)	S545P	probably benign	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,537,717 (GRCm39)	V494A	possibly damaging	Het
Kdf1	G	A	4: 133,255,852 (GRCm39)	E190K	probably damaging	Het
Lama2	G	A	10: 27,298,608 (GRCm39)	Q163*	probably null	Het
Lama3	G	T	18: 12,586,807 (GRCm39)	L723F	probably damaging	Het
Maged1	G	A	X: 93,582,530 (GRCm39)	P366S	probably damaging	Het
Med14	A	G	X: 12,585,936 (GRCm39)	I521T	probably benign	Het
Mia2	A	G	12: 59,201,196 (GRCm39)	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,225,203 (GRCm39)	R53Q	possibly damaging	Het
Mrps18b	G	A	17: 36,221,746 (GRCm39)	S101L	probably benign	Het
Nmnat2	G	A	1: 152,988,171 (GRCm39)	V267I	probably benign	Het
Noc2l	A	G	4: 156,321,907 (GRCm39)	D102G	probably benign	Het
Ntn1	T	C	11: 68,276,690 (GRCm39)	E86G	probably benign	Het
Opn4	A	G	14: 34,315,785 (GRCm39)		probably null	Het
Or2d2b	T	A	7: 106,705,675 (GRCm39)	H131L	probably benign	Het
Or4c109	A	T	2: 88,817,664 (GRCm39)	I294K	probably benign	Het
Or52n1	A	G	7: 104,383,425 (GRCm39)	F49L	probably benign	Het
Or6k6	A	G	1: 173,945,298 (GRCm39)	Y95H	probably damaging	Het
Pate3	T	A	9: 35,559,415 (GRCm39)	M1L	possibly damaging	Het
Pex2	A	G	3: 5,626,240 (GRCm39)	Y190H	probably damaging	Het
Pkhd1l1	A	C	15: 44,404,267 (GRCm39)	T2299P	probably damaging	Het
Ppp6r3	A	C	19: 3,571,782 (GRCm39)	S122R	possibly damaging	Het
Pwwp3b	G	A	X: 138,137,429 (GRCm39)	G656S	possibly damaging	Het
Rnf113a1	A	G	X: 36,455,736 (GRCm39)	E231G	probably damaging	Het
Rnf41	T	C	10: 128,274,023 (GRCm39)	L225P	possibly damaging	Het
Rreb1	G	C	13: 38,116,429 (GRCm39)	A1263P	probably benign	Het
Rxfp1	A	G	3: 79,589,778 (GRCm39)	V121A	possibly damaging	Het
Slc35e4	A	T	11: 3,862,796 (GRCm39)	V131D	probably damaging	Het
Smyd4	T	A	11: 75,280,962 (GRCm39)	M145K	probably benign	Het
Snx13	T	A	12: 35,188,116 (GRCm39)	I798N	probably benign	Het
Srgap3	A	T	6: 112,699,933 (GRCm39)	F1015Y	probably damaging	Het
Synj1	T	C	16: 90,766,217 (GRCm39)	Y567C	probably damaging	Het
Tbc1d8	G	A	1: 39,441,777 (GRCm39)	Q272*	probably null	Het
Tinf2	T	C	14: 55,918,088 (GRCm39)	D127G	probably damaging	Het
Ube2v1	G	A	2: 167,459,885 (GRCm39)	P39L	probably damaging	Het
Vegfd	A	G	X: 163,168,879 (GRCm39)	E57G	probably damaging	Het
Vmn2r72	A	T	7: 85,400,044 (GRCm39)	I335N	probably damaging	Het
Zc3h6	A	G	2: 128,857,380 (GRCm39)	H633R	probably benign	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
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'- GTGTGTTAAAGCCTAGTCGTATTGC -3'
(R):5'- CCACATAATTGCTGGCCCAC -3'

Sequencing Primer
(F):5'- AAGCCTAGTCGTATTGCAAATAAG -3'
(R):5'- TTGCTGGCCCACACATCATAAG -3'

Posted On

2014-12-04