Incidental Mutation 'R0064:Lpcat1'
ID 34425
Institutional Source Beutler Lab
Gene Symbol Lpcat1
Ensembl Gene ENSMUSG00000021608
Gene Name lysophosphatidylcholine acyltransferase 1
Synonyms 2900035H07Rik, rd11, LPCAT, Aytl2
MMRRC Submission 038356-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R0064 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 73615332-73664539 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73662585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 463 (N463K)
Ref Sequence ENSEMBL: ENSMUSP00000152190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022099] [ENSMUST00000123766] [ENSMUST00000147566] [ENSMUST00000223060]
AlphaFold Q3TFD2
Predicted Effect probably damaging
Transcript: ENSMUST00000022099
AA Change: N511K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022099
Gene: ENSMUSG00000021608
AA Change: N511K

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: ENSMUST00000124627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140431
Predicted Effect probably benign
Transcript: ENSMUST00000147566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222881
Predicted Effect probably damaging
Transcript: ENSMUST00000223060
AA Change: N463K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G T 11: 110,035,698 (GRCm39) L641M probably damaging Het
Abca9 A C 11: 110,035,697 (GRCm39) L641R probably damaging Het
Abhd18 A G 3: 40,888,288 (GRCm39) I377M probably benign Het
Arhgef17 C A 7: 100,530,561 (GRCm39) M1408I probably benign Het
Bcl2a1a G C 9: 88,839,516 (GRCm39) G138A probably damaging Het
C4b A G 17: 34,957,830 (GRCm39) L617P probably damaging Het
Ccdc25 T A 14: 66,091,561 (GRCm39) I60K possibly damaging Het
Cdk1 T C 10: 69,180,907 (GRCm39) D101G probably benign Het
Cdon A G 9: 35,400,523 (GRCm39) H1079R probably benign Het
Cep126 A T 9: 8,130,183 (GRCm39) probably benign Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Crlf3 A G 11: 79,948,728 (GRCm39) I239T possibly damaging Het
Cstf2t T A 19: 31,060,699 (GRCm39) N78K probably damaging Het
Cul1 A G 6: 47,479,349 (GRCm39) probably benign Het
D430041D05Rik T G 2: 104,079,502 (GRCm39) T1194P probably damaging Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fbxw14 A T 9: 109,116,660 (GRCm39) Y16* probably null Het
Fgd3 T G 13: 49,449,901 (GRCm39) D116A possibly damaging Het
Gm7168 C T 17: 14,170,121 (GRCm39) T496I probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Klhl5 T A 5: 65,298,631 (GRCm39) S137T probably benign Het
Knl1 T A 2: 118,906,724 (GRCm39) N1604K probably benign Het
Lpl A G 8: 69,345,356 (GRCm39) H120R probably damaging Het
Man1a2 A T 3: 100,499,199 (GRCm39) S412T possibly damaging Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Myo18a G T 11: 77,738,170 (GRCm39) R1704L probably damaging Het
Nlrc3 G T 16: 3,781,951 (GRCm39) T486K possibly damaging Het
Nrip1 T A 16: 76,091,558 (GRCm39) probably benign Het
Nutf2 A G 8: 106,605,441 (GRCm39) D92G probably damaging Het
Obscn A C 11: 58,918,292 (GRCm39) V6260G probably damaging Het
Or10a2 T C 7: 106,673,487 (GRCm39) F151L probably benign Het
Or2ak7 G A 11: 58,575,301 (GRCm39) V201M probably benign Het
Plce1 T C 19: 38,769,228 (GRCm39) probably null Het
Pmpca C A 2: 26,285,519 (GRCm39) D498E probably benign Het
Pnpla7 G T 2: 24,887,239 (GRCm39) E28* probably null Het
Polg C A 7: 79,111,632 (GRCm39) W206C probably damaging Het
Ptprt C T 2: 161,769,711 (GRCm39) probably benign Het
Slc7a14 T C 3: 31,281,209 (GRCm39) D367G probably damaging Het
Spata31 T C 13: 65,069,912 (GRCm39) Y687H probably damaging Het
Sybu T A 15: 44,536,389 (GRCm39) T646S probably benign Het
Thbs1 A T 2: 117,954,395 (GRCm39) probably null Het
Tie1 A G 4: 118,346,898 (GRCm39) V2A possibly damaging Het
Tma16 A T 8: 66,929,457 (GRCm39) I179K possibly damaging Het
Tns3 G A 11: 8,385,856 (GRCm39) Q1381* probably null Het
Trank1 A G 9: 111,172,263 (GRCm39) D84G probably damaging Het
Ttc3 A T 16: 94,223,106 (GRCm39) H197L possibly damaging Het
Urb1 A G 16: 90,576,028 (GRCm39) F843L probably benign Het
Vmn1r24 T G 6: 57,933,003 (GRCm39) I172L probably benign Het
Vmn2r1 T A 3: 64,012,209 (GRCm39) I690N possibly damaging Het
Vmn2r111 T A 17: 22,791,053 (GRCm39) I82L probably benign Het
Zfp287 A T 11: 62,605,764 (GRCm39) L370H possibly damaging Het
Zfp608 A T 18: 55,031,888 (GRCm39) I684N 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
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
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'- TCTAACCAGTGCCTGGTAATGGGG -3'
(R):5'- CAATGGGCAGATGGGACACACATAC -3'

Sequencing Primer
(F):5'- GGCTCTCTTGGGTCCCAATAATC -3'
(R):5'- GGCCCTGAGACAGACTTTACAG -3'
Posted On 2013-05-09