Incidental Mutation 'R4987:Lpcat1'
ID 385922
Institutional Source Beutler Lab
Gene Symbol Lpcat1
Ensembl Gene ENSMUSG00000021608
Gene Name lysophosphatidylcholine acyltransferase 1
Synonyms 2900035H07Rik, rd11, LPCAT, Aytl2
MMRRC Submission 042581-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R4987 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 73615332-73664539 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 73637222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022099] [ENSMUST00000022099] [ENSMUST00000022099] [ENSMUST00000123766] [ENSMUST00000147566] [ENSMUST00000223060] [ENSMUST00000223060] [ENSMUST00000223060]
AlphaFold Q3TFD2
Predicted Effect probably null
Transcript: ENSMUST00000022099
SMART Domains Protein: ENSMUSP00000022099
Gene: ENSMUSG00000021608

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
PlsC 129 239 2.91e-25 SMART
Blast:PlsC 272 314 7e-9 BLAST
EFh 383 411 5.47e-1 SMART
EFh 420 448 4.98e1 SMART
EFh 455 483 4.93e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000022099
SMART Domains Protein: ENSMUSP00000022099
Gene: ENSMUSG00000021608

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
PlsC 129 239 2.91e-25 SMART
Blast:PlsC 272 314 7e-9 BLAST
EFh 383 411 5.47e-1 SMART
EFh 420 448 4.98e1 SMART
EFh 455 483 4.93e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000022099
SMART Domains Protein: ENSMUSP00000022099
Gene: ENSMUSG00000021608

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
PlsC 129 239 2.91e-25 SMART
Blast:PlsC 272 314 7e-9 BLAST
EFh 383 411 5.47e-1 SMART
EFh 420 448 4.98e1 SMART
EFh 455 483 4.93e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123766
SMART Domains Protein: ENSMUSP00000117965
Gene: ENSMUSG00000021608

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133791
Predicted Effect probably benign
Transcript: ENSMUST00000147566
Predicted Effect probably null
Transcript: ENSMUST00000223060
Predicted Effect probably null
Transcript: ENSMUST00000223060
Predicted Effect probably null
Transcript: ENSMUST00000223060
Meta Mutation Damage Score 0.9505 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.3%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016]
PHENOTYPE: Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp T C 6: 125,030,725 (GRCm39) S249P probably benign Het
Adcy4 A G 14: 56,010,934 (GRCm39) V661A probably benign Het
Ahdc1 T G 4: 132,791,631 (GRCm39) H957Q possibly damaging Het
Atp10b A G 11: 43,042,440 (GRCm39) probably benign Het
B3gnt5 A T 16: 19,587,952 (GRCm39) N57I probably damaging Het
Brms1l T A 12: 55,912,800 (GRCm39) D264E probably benign Het
Camk1g T A 1: 193,030,783 (GRCm39) N309Y probably damaging Het
Chl1 A G 6: 103,651,938 (GRCm39) T285A probably damaging Het
Cspg4b T C 13: 113,454,635 (GRCm39) V227A probably benign Het
Dennd1c G T 17: 57,380,852 (GRCm39) T200K probably damaging Het
Dpysl3 C A 18: 43,461,492 (GRCm39) M566I probably benign Het
Dscam A T 16: 96,498,721 (GRCm39) D985E probably benign Het
Fmo5 T C 3: 97,542,894 (GRCm39) M68T probably benign Het
Gm26996 A G 6: 130,567,959 (GRCm39) unknown Het
Gm9991 A T 1: 90,603,138 (GRCm39) noncoding transcript Het
Gzmc T A 14: 56,468,997 (GRCm39) I241L probably damaging Het
Hibadh A T 6: 52,599,880 (GRCm39) S105R probably damaging Het
Krt87 A G 15: 101,384,890 (GRCm39) I402T probably benign Het
Krtap31-2 A G 11: 99,827,396 (GRCm39) D76G possibly damaging Het
Lin9 A G 1: 180,496,329 (GRCm39) S249G probably damaging Het
Mfap4 A G 11: 61,376,908 (GRCm39) I46V probably benign Het
Nos1 T C 5: 118,064,598 (GRCm39) probably null Het
Nostrin A G 2: 68,986,775 (GRCm39) M107V probably benign Het
Nutm2 C T 13: 50,626,379 (GRCm39) T322I possibly damaging Het
Or8k33 A C 2: 86,383,579 (GRCm39) D296E probably null Het
Pcdha12 T A 18: 37,154,604 (GRCm39) V441E probably damaging Het
Plcd4 A G 1: 74,587,118 (GRCm39) probably benign Het
Plscr1l1 T C 9: 92,236,637 (GRCm39) S175P probably damaging Het
Ppme1 T C 7: 99,994,278 (GRCm39) D145G probably benign Het
Rbm25 T C 12: 83,724,630 (GRCm39) V793A probably damaging Het
Rlbp1 A T 7: 79,029,879 (GRCm39) V118E probably damaging Het
Serinc2 C T 4: 130,156,820 (GRCm39) probably null Het
Slc25a32 A G 15: 38,963,414 (GRCm39) C136R possibly damaging Het
Smco2 A G 6: 146,757,590 (GRCm39) D48G possibly damaging Het
Trpv4 T C 5: 114,760,793 (GRCm39) D846G probably benign Het
Ubr1 A T 2: 120,794,047 (GRCm39) L46I probably benign Het
Wdsub1 A G 2: 59,700,737 (GRCm39) probably benign Het
Zp3 T A 5: 136,016,359 (GRCm39) C320* probably null Het
Other mutations in Lpcat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Lpcat1 APN 13 73,642,947 (GRCm39) missense probably damaging 0.98
IGL02869:Lpcat1 APN 13 73,632,417 (GRCm39) missense probably damaging 1.00
abajo UTSW 13 73,659,498 (GRCm39) missense probably damaging 1.00
R0064:Lpcat1 UTSW 13 73,662,585 (GRCm39) missense probably damaging 1.00
R1666:Lpcat1 UTSW 13 73,658,242 (GRCm39) critical splice donor site probably null
R3826:Lpcat1 UTSW 13 73,637,212 (GRCm39) missense possibly damaging 0.89
R3829:Lpcat1 UTSW 13 73,637,212 (GRCm39) missense possibly damaging 0.89
R3830:Lpcat1 UTSW 13 73,637,212 (GRCm39) missense possibly damaging 0.89
R6298:Lpcat1 UTSW 13 73,659,074 (GRCm39) missense possibly damaging 0.58
R7066:Lpcat1 UTSW 13 73,659,500 (GRCm39) missense probably benign 0.00
R7165:Lpcat1 UTSW 13 73,662,649 (GRCm39) missense probably benign 0.11
R7552:Lpcat1 UTSW 13 73,643,014 (GRCm39) missense probably damaging 0.99
R7961:Lpcat1 UTSW 13 73,659,498 (GRCm39) missense probably damaging 1.00
R8009:Lpcat1 UTSW 13 73,659,498 (GRCm39) missense probably damaging 1.00
R8247:Lpcat1 UTSW 13 73,662,071 (GRCm39) missense probably damaging 0.98
R8482:Lpcat1 UTSW 13 73,659,044 (GRCm39) missense probably benign 0.14
R8943:Lpcat1 UTSW 13 73,662,029 (GRCm39) missense probably benign 0.00
R9224:Lpcat1 UTSW 13 73,658,161 (GRCm39) missense probably damaging 0.98
R9229:Lpcat1 UTSW 13 73,653,650 (GRCm39) missense probably damaging 0.98
R9332:Lpcat1 UTSW 13 73,659,462 (GRCm39) missense probably damaging 1.00
R9509:Lpcat1 UTSW 13 73,642,951 (GRCm39) missense probably damaging 1.00
R9591:Lpcat1 UTSW 13 73,659,471 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTACAGGGTCGTGGACTTC -3'
(R):5'- TCTGCACATGACAGTACTGGG -3'

Sequencing Primer
(F):5'- TGCTCAAGGCCATCATGC -3'
(R):5'- TACTGGGGGACATGTCAGTAC -3'
Posted On 2016-05-10