Mutagenetix > Incidental Mutation

Incidental Mutation 'R6394:Lamp5'

515919

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

044543-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6394 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135894159-135911837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135902929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 216 (D216G)

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: D216G

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061180
Gene: ENSMUSG00000027270
AA Change: D216G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,760,029 (GRCm39)		probably null	Het
Alpi	T	A	1: 87,028,428 (GRCm39)	Y154F	possibly damaging	Het
Als2	A	T	1: 59,206,356 (GRCm39)	F1635I	probably damaging	Het
Anxa1	C	T	19: 20,361,213 (GRCm39)	V60M	probably damaging	Het
Atp10b	A	G	11: 43,116,464 (GRCm39)	Y937C	probably damaging	Het
Brd4	C	A	17: 32,443,121 (GRCm39)	E167*	probably null	Het
Cacna1h	G	A	17: 25,606,455 (GRCm39)	T1048I	probably benign	Het
Ccdc113	A	G	8: 96,283,820 (GRCm39)	D298G	probably benign	Het
Cfap100	T	A	6: 90,394,605 (GRCm39)	N74I	possibly damaging	Het
Chd8	A	T	14: 52,440,042 (GRCm39)	H4Q	possibly damaging	Het
Clcn1	A	G	6: 42,284,524 (GRCm39)	T621A	possibly damaging	Het
Clcn1	A	G	6: 42,290,172 (GRCm39)	T843A	possibly damaging	Het
Clcn3	C	T	8: 61,394,325 (GRCm39)	R68Q	probably damaging	Het
Dcaf13	T	A	15: 39,007,132 (GRCm39)	N355K	probably benign	Het
Dnah6	A	T	6: 73,132,401 (GRCm39)	C1100*	probably null	Het
Dync2h1	A	T	9: 7,168,331 (GRCm39)	V428E	probably damaging	Het
E230025N22Rik	T	C	18: 36,819,839 (GRCm39)	E317G	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Evc2	C	A	5: 37,535,619 (GRCm39)	D431E	probably damaging	Het
Gcm2	T	G	13: 41,263,373 (GRCm39)	T20P	probably damaging	Het
Gdf9	A	G	11: 53,327,524 (GRCm39)	Y160C	probably damaging	Het
Gm8220	A	G	14: 44,523,134 (GRCm39)		probably benign	Het
Gpalpp1	A	T	14: 76,344,852 (GRCm39)	S44T	possibly damaging	Het
Grip2	T	C	6: 91,764,182 (GRCm39)	Y134C	probably damaging	Het
Hephl1	A	G	9: 14,985,397 (GRCm39)	F753S	probably benign	Het
Herc1	A	G	9: 66,302,341 (GRCm39)	T727A	probably damaging	Het
Herc2	A	G	7: 55,865,729 (GRCm39)	E4232G	probably damaging	Het
Ifi207	A	G	1: 173,556,581 (GRCm39)	L726P	probably benign	Het
Itga11	T	A	9: 62,642,548 (GRCm39)		probably null	Het
Jrkl	A	C	9: 13,245,495 (GRCm39)	Y55*	probably null	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kif18b	A	G	11: 102,805,236 (GRCm39)	V303A	probably damaging	Het
Klhl29	A	T	12: 5,144,830 (GRCm39)	C423*	probably null	Het
Klhl29	T	C	12: 5,187,720 (GRCm39)	S215G	probably benign	Het
Leo1	T	A	9: 75,352,752 (GRCm39)	D98E	probably benign	Het
Map3k3	T	C	11: 106,039,709 (GRCm39)	V283A	probably benign	Het
Med12l	A	G	3: 59,142,508 (GRCm39)	K902E	probably damaging	Het
Mmp1b	C	A	9: 7,386,316 (GRCm39)	D202Y	probably benign	Het
Muc21	A	T	17: 35,931,058 (GRCm39)		probably benign	Het
Onecut3	A	G	10: 80,331,847 (GRCm39)	I336V	probably damaging	Het
Oprl1	C	T	2: 181,360,795 (GRCm39)	R257C	probably damaging	Het
Or10g9	T	C	9: 39,912,001 (GRCm39)	Q174R	probably benign	Het
Or10h1	G	A	17: 33,418,487 (GRCm39)	G155D	probably damaging	Het
Or4c11b	C	T	2: 88,625,296 (GRCm39)	T190I	probably benign	Het
Or56b1	T	A	7: 104,284,909 (GRCm39)	N9K	possibly damaging	Het
Or56b1	T	C	7: 104,285,234 (GRCm39)	S118P	possibly damaging	Het
Or5p64	C	T	7: 107,854,970 (GRCm39)	R125H	possibly damaging	Het
Or6c69	G	T	10: 129,747,789 (GRCm39)	D119E	probably damaging	Het
Osbpl6	T	C	2: 76,386,298 (GRCm39)	V207A	probably benign	Het
Pde3a	A	T	6: 141,433,237 (GRCm39)	H756L	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phyh	A	G	2: 4,940,814 (GRCm39)	D238G	probably benign	Het
Pnliprp2	T	A	19: 58,750,030 (GRCm39)	N92K	probably benign	Het
Pole3	T	C	4: 62,442,263 (GRCm39)		probably benign	Het
Ppm1d	T	C	11: 85,230,498 (GRCm39)	V372A	probably benign	Het
Prpf40a	A	T	2: 53,034,890 (GRCm39)	I766N	probably damaging	Het
Prr5	T	A	15: 84,583,925 (GRCm39)	V175E	probably damaging	Het
Prss59	A	T	6: 40,898,726 (GRCm39)	L174*	probably null	Het
Ptprq	T	A	10: 107,478,804 (GRCm39)	K1280*	probably null	Het
Rbp2	T	A	9: 98,389,873 (GRCm39)	V95E	possibly damaging	Het
Rictor	T	C	15: 6,798,790 (GRCm39)	F346L	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Scn10a	T	A	9: 119,490,386 (GRCm39)	I519F	probably benign	Het
Setd5	T	G	6: 113,092,505 (GRCm39)	V295G	probably damaging	Het
Shcbp1	A	T	8: 4,786,176 (GRCm39)	M642K	probably damaging	Het
Slc13a3	C	T	2: 165,276,017 (GRCm39)	G243E	probably damaging	Het
Smg9	T	C	7: 24,121,732 (GRCm39)	Y498H	probably damaging	Het
Sox5	T	C	6: 143,987,039 (GRCm39)	D175G	probably damaging	Het
Stard7	A	G	2: 127,126,161 (GRCm39)	D71G	probably damaging	Het
Stxbp5	A	T	10: 9,774,975 (GRCm39)	Y59*	probably null	Het
Supt6	G	A	11: 78,121,891 (GRCm39)	R254C	probably damaging	Het
Syne2	C	T	12: 76,037,269 (GRCm39)	T3817I	probably benign	Het
Tas2r124	T	A	6: 132,732,039 (GRCm39)	I116N	probably damaging	Het
Trim9	T	A	12: 70,301,987 (GRCm39)	E550D	possibly damaging	Het
Vmn2r50	A	G	7: 9,774,253 (GRCm39)	S548P	probably damaging	Het
Zmynd8	C	A	2: 165,687,943 (GRCm39)	E126*	probably null	Het
Zswim9	A	T	7: 12,994,889 (GRCm39)	S422R	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
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
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'- GCTCTGCCTAAGTTAGCAGC -3'
(R):5'- AGGGATGGGTATTTCAGAAACC -3'

Sequencing Primer
(F):5'- CTCTGCCTAAGTTAGCAGCAATGAG -3'
(R):5'- GGGTATTTCAGAAACCTTATAACGTC -3'

Posted On

2018-05-04