Incidental Mutation 'R4467:Lamp5'
ID329218
Institutional Source Beutler Lab
Gene Symbol Lamp5
Ensembl Gene ENSMUSG00000027270
Gene Namelysosomal-associated membrane protein family, member 5
Synonyms3110035N03Rik, 6330527O06Rik, BAD-LAMP
MMRRC Submission 041724-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #R4467 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location136052239-136069917 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 136059020 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 47 (I47V)
Ref Sequence ENSEMBL: ENSMUSP00000061180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057503] [ENSMUST00000144403]
Predicted Effect probably damaging
Transcript: ENSMUST00000057503
AA Change: I47V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000061180
Gene: ENSMUSG00000027270
AA Change: I47V

DomainStartEndE-ValueType
Pfam:Lamp 26 268 8.3e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143777
Predicted Effect probably damaging
Transcript: ENSMUST00000144403
AA Change: I47V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120703
Gene: ENSMUSG00000027270
AA Change: I47V

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154674
Meta Mutation Damage Score 0.0676 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 63,898,839 probably benign Het
4930402H24Rik A G 2: 130,767,647 I372T probably damaging Het
Atg4a-ps A G 3: 103,645,855 Y57H probably damaging Het
Bag4 C T 8: 25,769,488 A228T probably benign Het
Bms1 G A 6: 118,383,847 T1220I probably damaging Het
Brat1 T C 5: 140,705,071 probably benign Het
Casc1 A T 6: 145,183,218 probably null Het
Cds2 T A 2: 132,294,446 Y39* probably null Het
Chrnd T A 1: 87,197,377 L384Q probably damaging Het
Cpa3 A T 3: 20,228,817 Y155* probably null Het
Crlf1 G A 8: 70,500,956 W260* probably null Het
Cux1 C G 5: 136,312,722 E605D probably damaging Het
Cylc2 C G 4: 51,229,651 T331R unknown Het
Dmtf1 T C 5: 9,136,085 N167S probably damaging Het
Dtx2 T A 5: 136,012,076 W112R probably damaging Het
Elf3 A G 1: 135,256,844 I138T probably damaging Het
F11 T A 8: 45,241,474 I617F probably damaging Het
Fdps A T 3: 89,100,786 D8E possibly damaging Het
Fzd10 C A 5: 128,601,276 T20K probably benign Het
Gm9978 T A 10: 78,486,916 noncoding transcript Het
Gpr158 T A 2: 21,826,999 M970K probably damaging Het
Has1 C T 17: 17,843,995 V461M probably benign Het
Hdac3 C T 18: 37,952,513 G80D probably benign Het
Klk12 A T 7: 43,773,383 R245W probably damaging Het
Olfr786 T C 10: 129,437,064 I84T probably benign Het
Ovgp1 A G 3: 105,977,711 D122G probably benign Het
Piezo1 T C 8: 122,486,396 E1875G probably benign Het
Pih1d1 A G 7: 45,158,497 M132V possibly damaging Het
Pon2 C T 6: 5,267,021 A241T probably benign Het
Prkce A G 17: 86,619,911 I538V possibly damaging Het
Rab36 C T 10: 75,052,043 R249* probably null Het
Rps6kl1 C T 12: 85,147,808 A110T probably damaging Het
Rsad1 T C 11: 94,544,530 T244A probably benign Het
Slc22a7 T C 17: 46,432,510 I532V probably benign Het
Slc2a7 T C 4: 150,163,274 V377A possibly damaging Het
Slx4 A G 16: 3,989,055 V508A possibly damaging Het
Stag2 A G X: 42,233,872 S400G probably benign Het
Stat6 T G 10: 127,651,228 I201M probably damaging Het
Stim2 T C 5: 54,116,194 probably null Het
Tbc1d9 A G 8: 83,210,478 Y63C probably damaging Het
Tctn2 T C 5: 124,620,189 noncoding transcript Het
Tmem181a T A 17: 6,295,786 L185H probably damaging Het
Ubr5 T A 15: 38,004,336 T1282S probably damaging Het
Ufl1 A T 4: 25,254,806 I550N probably damaging Het
Uty A G Y: 1,158,372 V557A possibly damaging Het
Vmn1r54 T C 6: 90,269,271 S56P probably damaging Het
Zfp980 G A 4: 145,702,083 G461S probably benign Het
Other mutations in Lamp5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6702: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
Predicted Primers PCR Primer
(F):5'- TTCGAGCAGGGAACTTTGCC -3'
(R):5'- CATGCAGCATTCGGGAACAG -3'

Sequencing Primer
(F):5'- TGCCTCTCCAAAGCCTGCAG -3'
(R):5'- ATTCGGGAACAGCCTGC -3'
Posted On2015-07-21