Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Lamp5'

528794

Institutional Source

Beutler Lab

Gene Symbol

Lamp5

Ensembl Gene

ENSMUSG00000027270

Gene Name

lysosomal-associated membrane protein family, member 5

Synonyms

3110035N03Rik, 6330527O06Rik, BAD-LAMP

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136052239-136069917 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 136059563 bp (GRCm38)

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: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097		probably null	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Sfrp5	G	T	19: 42,201,827	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	probably damaging	Het

Other mutations in Lamp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Lamp5	APN	2	136069070	missense	probably damaging	1.00
IGL02145:Lamp5	APN	2	136059589	missense	possibly damaging	0.74
IGL03058:Lamp5	APN	2	136069127	missense	probably benign	0.03
R0392:Lamp5	UTSW	2	136060897	missense	probably damaging	1.00
R0734:Lamp5	UTSW	2	136059030	missense	probably damaging	1.00
R1488:Lamp5	UTSW	2	136069091	missense	probably benign	0.03
R2862:Lamp5	UTSW	2	136058946	missense	probably benign	0.37
R3954:Lamp5	UTSW	2	136061008	missense	probably damaging	1.00
R4467:Lamp5	UTSW	2	136059020	missense	probably damaging	1.00
R4686:Lamp5	UTSW	2	136059003	missense	probably damaging	1.00
R4745:Lamp5	UTSW	2	136060866	missense	probably benign	0.09
R6394:Lamp5	UTSW	2	136061009	missense	possibly damaging	0.61
R6701:Lamp5	UTSW	2	136059563	missense	possibly damaging	0.51
R6703:Lamp5	UTSW	2	136059563	missense	possibly damaging	0.51
R6736:Lamp5	UTSW	2	136059563	missense	possibly damaging	0.51
R7237:Lamp5	UTSW	2	136059835	missense	probably benign	0.29
R7347:Lamp5	UTSW	2	136060958	missense	probably benign	0.10
R8895:Lamp5	UTSW	2	136060954	missense	probably benign	0.00
R9051:Lamp5	UTSW	2	136069134	missense	probably benign	0.15
R9205:Lamp5	UTSW	2	136059601	missense	probably damaging	1.00
R9786:Lamp5	UTSW	2	136069078	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2018-07-24