Incidental Mutation 'IGL00757:Plaat5'
ID 11336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plaat5
Ensembl Gene ENSMUSG00000024973
Gene Name phospholipase A and acyltransferase 5
Synonyms Hrasls5, iNAT, 4921526K24Rik, 1700086E08Rik, 1700055A14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00757
Quality Score
Status
Chromosome 19
Chromosomal Location 7589906-7617007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 7591924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 113 (E113D)
Ref Sequence ENSEMBL: ENSMUSP00000118096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025929] [ENSMUST00000148558]
AlphaFold Q9CPX5
Predicted Effect probably benign
Transcript: ENSMUST00000025929
AA Change: E113D

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025929
Gene: ENSMUSG00000024973
AA Change: E113D

DomainStartEndE-ValueType
Pfam:LRAT 139 261 1.6e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131326
Predicted Effect possibly damaging
Transcript: ENSMUST00000148558
AA Change: E113D

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118096
Gene: ENSMUSG00000024973
AA Change: E113D

DomainStartEndE-ValueType
Pfam:LRAT 144 261 1.9e-37 PFAM
low complexity region 294 305 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 A C 9: 54,530,003 (GRCm39) I231R possibly damaging Het
Ahctf1 G A 1: 179,596,696 (GRCm39) P94S probably damaging Het
Cldn34b3 T C X: 75,310,978 (GRCm39) I182T possibly damaging Het
Cps1 T A 1: 67,191,539 (GRCm39) probably benign Het
Cwf19l2 G T 9: 3,460,054 (GRCm39) A781S probably damaging Het
Cyp4v3 T C 8: 45,773,652 (GRCm39) I172M probably damaging Het
Fcgbpl1 T G 7: 27,853,870 (GRCm39) C1611W probably damaging Het
Gmnc T G 16: 26,782,689 (GRCm39) D22A probably damaging Het
Gpr89 T A 3: 96,778,850 (GRCm39) T408S probably benign Het
Grk2 A G 19: 4,339,339 (GRCm39) probably null Het
Kctd3 A G 1: 188,704,393 (GRCm39) S793P probably damaging Het
Lhx1 A G 11: 84,410,478 (GRCm39) F373S probably damaging Het
Mgl2 A T 11: 70,025,976 (GRCm39) I71F probably damaging Het
Nbeal1 T A 1: 60,234,302 (GRCm39) I91N possibly damaging Het
Otog T A 7: 45,939,552 (GRCm39) D2110E probably damaging Het
Pde9a A G 17: 31,662,146 (GRCm39) E90G probably benign Het
Prdm10 T C 9: 31,229,842 (GRCm39) V86A possibly damaging Het
R3hdm1 T G 1: 128,164,176 (GRCm39) I1030R probably damaging Het
Ryr2 T A 13: 11,633,490 (GRCm39) probably null Het
Serpina1f A G 12: 103,659,721 (GRCm39) I187T probably damaging Het
Slc22a16 C T 10: 40,457,323 (GRCm39) T188M probably damaging Het
Spg11 T C 2: 121,901,440 (GRCm39) H1500R probably benign Het
Sptlc2 C T 12: 87,415,842 (GRCm39) E62K probably damaging Het
Tgfbr1 T A 4: 47,405,581 (GRCm39) S326T probably damaging Het
Tgif1 A G 17: 71,153,235 (GRCm39) Y39H probably damaging Het
Other mutations in Plaat5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Plaat5 APN 19 7,596,631 (GRCm39) splice site probably benign
R0330:Plaat5 UTSW 19 7,614,663 (GRCm39) splice site probably null
R1144:Plaat5 UTSW 19 7,590,695 (GRCm39) missense probably benign 0.00
R1294:Plaat5 UTSW 19 7,592,015 (GRCm39) splice site probably benign
R1453:Plaat5 UTSW 19 7,616,999 (GRCm39) unclassified probably benign
R2069:Plaat5 UTSW 19 7,590,003 (GRCm39) missense possibly damaging 0.83
R2258:Plaat5 UTSW 19 7,590,111 (GRCm39) missense probably damaging 1.00
R2260:Plaat5 UTSW 19 7,590,111 (GRCm39) missense probably damaging 1.00
R5478:Plaat5 UTSW 19 7,592,036 (GRCm39) intron probably benign
R6151:Plaat5 UTSW 19 7,596,656 (GRCm39) missense probably damaging 1.00
R6274:Plaat5 UTSW 19 7,614,831 (GRCm39) missense probably damaging 1.00
R6746:Plaat5 UTSW 19 7,590,695 (GRCm39) missense probably benign 0.00
R6823:Plaat5 UTSW 19 7,616,861 (GRCm39) unclassified probably benign
R6912:Plaat5 UTSW 19 7,616,830 (GRCm39) unclassified probably benign
R7100:Plaat5 UTSW 19 7,616,923 (GRCm39) missense unknown
R7241:Plaat5 UTSW 19 7,591,946 (GRCm39) missense probably benign 0.01
R9009:Plaat5 UTSW 19 7,614,823 (GRCm39) missense probably benign 0.01
R9287:Plaat5 UTSW 19 7,596,691 (GRCm39) nonsense probably null
R9464:Plaat5 UTSW 19 7,591,923 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06