Incidental Mutation 'R7961:Lpcat1'
ID 650131
Institutional Source Beutler Lab
Gene Symbol Lpcat1
Ensembl Gene ENSMUSG00000021608
Gene Name lysophosphatidylcholine acyltransferase 1
Synonyms 2900035H07Rik, rd11, LPCAT, Aytl2
MMRRC Submission 046005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R7961 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 73615332-73664539 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73659498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 420 (T420I)
Ref Sequence ENSEMBL: ENSMUSP00000022099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022099] [ENSMUST00000123766] [ENSMUST00000147566] [ENSMUST00000223060]
AlphaFold Q3TFD2
Predicted Effect probably damaging
Transcript: ENSMUST00000022099
AA Change: T420I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022099
Gene: ENSMUSG00000021608
AA Change: T420I

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 probably benign
Transcript: ENSMUST00000147566
Predicted Effect probably damaging
Transcript: ENSMUST00000223060
AA Change: T372I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.1236 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,878,870 (GRCm39) N751K possibly damaging Het
Bckdha G A 7: 25,330,903 (GRCm39) R288W probably damaging Het
Ccng1 G A 11: 40,642,096 (GRCm39) H229Y probably benign Het
Cenpn C A 8: 117,663,976 (GRCm39) T256N probably benign Het
Ciart A G 3: 95,788,629 (GRCm39) V70A possibly damaging Het
Clcc1 A G 3: 108,568,774 (GRCm39) N36S probably damaging Het
Cntnap1 G A 11: 101,069,121 (GRCm39) A192T probably benign Het
Dmrt1 T A 19: 25,523,245 (GRCm39) S199T possibly damaging Het
Dmrt3 T C 19: 25,588,272 (GRCm39) V37A possibly damaging Het
Dock1 T A 7: 134,346,786 (GRCm39) D239E possibly damaging Het
Dyrk3 A G 1: 131,063,995 (GRCm39) probably null Het
Engase A G 11: 118,377,686 (GRCm39) D571G possibly damaging Het
Gm45871 C T 18: 90,609,883 (GRCm39) H374Y probably damaging Het
Icam5 T C 9: 20,950,051 (GRCm39) V870A possibly damaging Het
Idh2 T C 7: 79,748,001 (GRCm39) H233R probably benign Het
Kcna5 A G 6: 126,510,517 (GRCm39) L537P probably benign Het
Krt71 T C 15: 101,643,877 (GRCm39) I454V probably damaging Het
Krtap5-4 C T 7: 141,857,671 (GRCm39) Q114* probably null Het
Loxl3 T C 6: 83,027,790 (GRCm39) F734S possibly damaging Het
Mia2 T A 12: 59,206,425 (GRCm39) probably null Het
Neurod4 A T 10: 130,106,356 (GRCm39) V306D possibly damaging Het
Nkiras2 A T 11: 100,510,628 (GRCm39) probably benign Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Ntrk3 T A 7: 78,103,076 (GRCm39) D408V probably benign Het
Nubpl T A 12: 52,228,080 (GRCm39) L168* probably null Het
Odf1 A G 15: 38,226,840 (GRCm39) I247V unknown Het
Or4c35 A G 2: 89,808,131 (GRCm39) Q3R probably benign Het
Or4k48 G A 2: 111,476,282 (GRCm39) S20F probably damaging Het
Or5d41 C A 2: 88,055,033 (GRCm39) M114I possibly damaging Het
Pcsk1 T C 13: 75,274,958 (GRCm39) S516P probably benign Het
Pikfyve A G 1: 65,294,293 (GRCm39) D1411G probably damaging Het
Polm T C 11: 5,780,155 (GRCm39) D294G possibly damaging Het
Ppcs A T 4: 119,276,262 (GRCm39) S281T probably benign Het
Pramel34 T C 5: 93,784,543 (GRCm39) D307G probably damaging Het
Pspc1 G A 14: 57,009,304 (GRCm39) Q177* probably null Het
Rbm33 G A 5: 28,599,606 (GRCm39) G185R Het
Satb2 A G 1: 56,910,917 (GRCm39) S243P probably benign Het
Serinc5 T C 13: 92,797,699 (GRCm39) probably null Het
Sgsm1 T C 5: 113,430,510 (GRCm39) T292A probably damaging Het
Smad3 G A 9: 63,557,564 (GRCm39) R420C possibly damaging Het
Sntg1 C T 1: 8,433,794 (GRCm39) V486I probably damaging Het
Tep1 A G 14: 51,061,687 (GRCm39) S2610P possibly damaging Het
Tmem200a A G 10: 25,869,904 (GRCm39) S122P probably damaging Het
Tnks2 T A 19: 36,829,901 (GRCm39) M194K probably benign Het
Trav14d-3-dv8 A C 14: 53,316,224 (GRCm39) Q28P probably damaging Het
Trpm5 T C 7: 142,634,106 (GRCm39) E700G probably benign Het
Ubqln3 T A 7: 103,791,797 (GRCm39) I98L probably benign Het
Usp25 A G 16: 76,856,150 (GRCm39) I248V probably damaging Het
Vmn1r28 T C 6: 58,242,178 (GRCm39) V7A probably benign Het
Zfp60 G A 7: 27,447,881 (GRCm39) G183D probably benign 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
R4987:Lpcat1 UTSW 13 73,637,222 (GRCm39) critical splice donor site probably null
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
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'- ATTACGTCTGGGAATGGTCTTC -3'
(R):5'- TCTTGAAGTCTGGAGATGCAG -3'

Sequencing Primer
(F):5'- GTCTTCCAAGTACAGGTTTTTATGTC -3'
(R):5'- GAAACACTTCTGGGCATGTC -3'
Posted On 2020-09-15