Incidental Mutation 'IGL02268:Lpcat2b'
ID286997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpcat2b
Ensembl Gene ENSMUSG00000033794
Gene Namelysophosphatidylcholine acyltransferase 2B
Synonyms4921521K07Rik, Aytl1b
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02268
Quality Score
Status
Chromosome5
Chromosomal Location107431549-107435039 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 107434116 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 437 (D437A)
Ref Sequence ENSEMBL: ENSMUSP00000127318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049146] [ENSMUST00000094541] [ENSMUST00000162298] [ENSMUST00000166599] [ENSMUST00000211896]
Predicted Effect probably benign
Transcript: ENSMUST00000049146
SMART Domains Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Hydrolase_4 88 203 2.4e-11 PFAM
Pfam:Abhydrolase_1 92 341 6.6e-27 PFAM
Pfam:Abhydrolase_5 93 335 5.7e-15 PFAM
Pfam:Abhydrolase_6 94 346 2.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094541
SMART Domains Protein: ENSMUSP00000092119
Gene: ENSMUSG00000111375

DomainStartEndE-ValueType
BTB 58 158 2.15e0 SMART
BTB 205 303 1.55e-21 SMART
Blast:BTB 341 372 6e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000162298
Predicted Effect probably damaging
Transcript: ENSMUST00000166599
AA Change: D437A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127318
Gene: ENSMUSG00000033794
AA Change: D437A

DomainStartEndE-ValueType
transmembrane domain 63 85 N/A INTRINSIC
low complexity region 106 122 N/A INTRINSIC
PlsC 136 247 5.65e-14 SMART
Blast:PlsC 280 322 3e-10 BLAST
EFh 391 419 9.48e-3 SMART
EFh 428 456 6.6e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171723
Predicted Effect probably benign
Transcript: ENSMUST00000211896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212858
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500015O10Rik T A 1: 43,730,951 C23S probably damaging Het
2310057J18Rik C T 10: 28,986,246 C16Y probably benign Het
5330417C22Rik C A 3: 108,467,797 A585S probably benign Het
Abca13 C T 11: 9,290,626 L830F probably benign Het
Apcdd1 T C 18: 62,950,188 V363A probably damaging Het
Cachd1 A G 4: 100,952,097 I260V possibly damaging Het
Cass4 T A 2: 172,427,042 M350K possibly damaging Het
Ccdc129 A T 6: 55,884,688 probably benign Het
Ccnjl A G 11: 43,579,788 T128A probably benign Het
Cd6 C T 19: 10,796,388 G361D probably benign Het
Cdh22 T C 2: 165,123,719 probably benign Het
Ces2h T A 8: 105,019,940 F475Y probably benign Het
Col15a1 A T 4: 47,245,380 T44S probably damaging Het
Cplx3 C T 9: 57,602,458 E86K possibly damaging Het
Crbn A G 6: 106,795,043 V100A possibly damaging Het
D430041D05Rik C A 2: 104,241,155 V1267L possibly damaging Het
F930017D23Rik A G 10: 43,604,409 noncoding transcript Het
Fam214b T A 4: 43,036,468 R88* probably null Het
Fastkd3 A G 13: 68,583,677 D39G probably damaging Het
Gm17689 T C 9: 36,581,870 Y52C possibly damaging Het
Golgb1 T A 16: 36,913,128 S912R probably benign Het
H2-T24 T C 17: 36,017,372 Y73C probably damaging Het
Ifna9 A T 4: 88,592,354 L11* probably null Het
Igsf10 A T 3: 59,331,152 L536* probably null Het
Kcnma1 A T 14: 23,543,076 I215K probably damaging Het
Kdm4c A C 4: 74,373,716 I857L possibly damaging Het
Kptn A T 7: 16,123,861 H229L probably benign Het
Krt32 A T 11: 100,088,141 M29K probably benign Het
Lama2 A G 10: 27,001,116 probably benign Het
Lrrc8c T C 5: 105,607,898 L513P probably damaging Het
Mon1a T C 9: 107,901,798 V407A possibly damaging Het
Myo5c C T 9: 75,246,237 P135L probably damaging Het
Myof C T 19: 37,954,429 V218M possibly damaging Het
Myof T A 19: 37,974,863 I429F possibly damaging Het
Nbas A G 12: 13,405,397 D1204G possibly damaging Het
Nckap1 G A 2: 80,528,618 P560S probably benign Het
Notch2 G A 3: 98,137,397 G1545D probably damaging Het
Ntrk1 G A 3: 87,781,531 H572Y probably damaging Het
Olfr314 T C 11: 58,786,725 F164L probably benign Het
Olfr873 T C 9: 20,300,292 S31P probably damaging Het
Pcdh15 A T 10: 74,342,672 D587V probably damaging Het
Pik3cb T C 9: 99,046,556 Y882C probably benign Het
Plch1 T A 3: 63,699,283 *1074C probably null Het
Plcxd1 T C 5: 110,100,274 probably benign Het
Ppp2r2d A G 7: 138,872,971 N27S probably null Het
Prkar2a A G 9: 108,746,953 M390V probably benign Het
Rab3gap1 A G 1: 127,868,958 T18A probably damaging Het
Ranbp2 T C 10: 58,493,653 probably benign Het
Rasl12 T C 9: 65,398,664 S34P probably damaging Het
Rpusd3 A T 6: 113,418,857 L65Q possibly damaging Het
Rtf2 A G 2: 172,468,719 K290R probably damaging Het
Rwdd4a T A 8: 47,550,696 L179* probably null Het
Scgb1b24 A G 7: 33,744,963 E87G possibly damaging Het
Sgo2a A G 1: 58,017,722 I1022V probably benign Het
Smg1 A C 7: 118,182,541 I1174M probably benign Het
Spata17 A T 1: 187,140,398 M72K probably damaging Het
Synpo2 G A 3: 123,116,983 P338S probably damaging Het
Tpi1 G A 6: 124,814,124 T50I probably benign Het
Trpm1 A G 7: 64,217,614 E354G probably damaging Het
Uba2 A G 7: 34,142,736 probably null Het
Wnk1 G A 6: 119,937,373 R1823* probably null Het
Zfp248 A C 6: 118,453,840 probably benign Het
Zfp51 A T 17: 21,463,419 K99* probably null Het
Other mutations in Lpcat2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Lpcat2b APN 5 107433804 missense probably damaging 1.00
IGL01620:Lpcat2b APN 5 107433893 missense probably damaging 1.00
IGL03103:Lpcat2b APN 5 107433548 missense probably damaging 1.00
PIT4431001:Lpcat2b UTSW 5 107434131 missense probably damaging 1.00
R0967:Lpcat2b UTSW 5 107434218 missense possibly damaging 0.66
R1259:Lpcat2b UTSW 5 107433897 missense probably damaging 1.00
R1508:Lpcat2b UTSW 5 107433464 missense probably damaging 0.99
R1976:Lpcat2b UTSW 5 107433850 missense possibly damaging 0.65
R2352:Lpcat2b UTSW 5 107433441 missense probably damaging 1.00
R4617:Lpcat2b UTSW 5 107433999 missense possibly damaging 0.69
R5187:Lpcat2b UTSW 5 107434135 nonsense probably null
R5696:Lpcat2b UTSW 5 107432907 missense probably damaging 1.00
R6170:Lpcat2b UTSW 5 107433894 missense probably benign 0.10
R6199:Lpcat2b UTSW 5 107433305 missense probably benign 0.03
R7316:Lpcat2b UTSW 5 107433113 missense not run
Z1088:Lpcat2b UTSW 5 107433311 missense probably damaging 1.00
Posted On2015-04-16