Incidental Mutation 'R9276:Gnpat'
ID 703305
Institutional Source Beutler Lab
Gene Symbol Gnpat
Ensembl Gene ENSMUSG00000031985
Gene Name glyceronephosphate O-acyltransferase
Synonyms D1Ertd819e
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.387) question?
Stock # R9276 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 125589772-125616796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 125614524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 653 (N653K)
Ref Sequence ENSEMBL: ENSMUSP00000034466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034466] [ENSMUST00000161986]
AlphaFold P98192
Predicted Effect probably benign
Transcript: ENSMUST00000034466
AA Change: N653K

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034466
Gene: ENSMUSG00000031985
AA Change: N653K

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
SCOP:d1dbha1 27 146 6e-3 SMART
PlsC 155 284 8.3e-21 SMART
Blast:PlsC 308 336 1e-6 BLAST
low complexity region 638 652 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161986
SMART Domains Protein: ENSMUSP00000125323
Gene: ENSMUSG00000031985

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
PlsC 145 274 8.3e-21 SMART
Blast:PlsC 298 326 2e-6 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (83/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik A T 9: 101,819,887 (GRCm39) R102S probably benign Het
Abitram A T 4: 56,806,141 (GRCm39) K184N probably benign Het
Acvr2b C T 9: 119,231,616 (GRCm39) T2M probably benign Het
Adamtsl3 A G 7: 82,206,710 (GRCm39) probably benign Het
Adcy7 A G 8: 89,052,014 (GRCm39) Y894C probably damaging Het
Afdn T A 17: 14,024,270 (GRCm39) C59S probably damaging Het
Amt C A 9: 108,178,410 (GRCm39) T339K probably benign Het
Ankrd27 G T 7: 35,319,995 (GRCm39) V639L probably benign Het
Anxa10 G T 8: 62,549,753 (GRCm39) Q31K probably damaging Het
Ap1g2 T C 14: 55,339,818 (GRCm39) T454A probably benign Het
Boll A T 1: 55,399,812 (GRCm39) I43N possibly damaging Het
Cacna1c T C 6: 118,601,394 (GRCm39) D1472G Het
Calcrl T C 2: 84,205,643 (GRCm39) N16S probably benign Het
Ccdc191 C T 16: 43,764,041 (GRCm39) Q501* probably null Het
Cchcr1 T C 17: 35,841,105 (GRCm39) L658P probably damaging Het
Cfap46 A T 7: 139,201,207 (GRCm39) C1919S unknown Het
Col6a3 G A 1: 90,735,403 (GRCm39) L1356F possibly damaging Het
Dlc1 A G 8: 37,046,558 (GRCm39) S680P possibly damaging Het
Dock4 T G 12: 40,699,404 (GRCm39) M206R possibly damaging Het
Eml5 T C 12: 98,765,060 (GRCm39) K1630E probably damaging Het
Fat1 A G 8: 45,488,514 (GRCm39) T3432A probably damaging Het
Fcrl5 G T 3: 87,343,138 (GRCm39) probably benign Het
Fcrla A G 1: 170,755,135 (GRCm39) probably benign Het
Fut4 C A 9: 14,662,572 (GRCm39) D241Y probably benign Het
Fzd6 A G 15: 38,870,962 (GRCm39) probably benign Het
Gjc2 T C 11: 59,068,453 (GRCm39) T10A probably damaging Het
Gle1 C T 2: 29,829,514 (GRCm39) H203Y possibly damaging Het
Gm5565 A T 5: 146,096,917 (GRCm39) I74N probably damaging Het
Gnl2 T A 4: 124,947,250 (GRCm39) I624K possibly damaging Het
Gstcd A G 3: 132,777,665 (GRCm39) L382S probably damaging Het
Ipcef1 A G 10: 6,857,936 (GRCm39) probably benign Het
Jmjd7 T C 2: 119,860,895 (GRCm39) V115A possibly damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Ltbp2 T G 12: 84,876,885 (GRCm39) D440A possibly damaging Het
Macf1 T G 4: 123,328,501 (GRCm39) D4744A probably damaging Het
Mapk11 T C 15: 89,029,372 (GRCm39) D230G probably damaging Het
Mfsd6 A C 1: 52,747,514 (GRCm39) Y450* probably null Het
Mtmr9 A G 14: 63,781,001 (GRCm39) C30R probably damaging Het
Ncf1 G A 5: 134,250,693 (GRCm39) Q376* probably null Het
Ncor2 C A 5: 125,113,150 (GRCm39) R296M Het
Or51ah3 A T 7: 103,210,004 (GRCm39) T107S probably damaging Het
Or5d37 A G 2: 87,923,806 (GRCm39) V158A probably benign Het
Or5k8 A G 16: 58,644,734 (GRCm39) F113L probably benign Het
Or8b57 A T 9: 40,003,632 (GRCm39) I210K possibly damaging Het
Or8b8 C A 9: 37,809,415 (GRCm39) S238R probably benign Het
Or8k31-ps1 A T 2: 86,356,392 (GRCm39) L43* probably null Het
Pate9 A T 9: 36,445,727 (GRCm39) C75S probably damaging Het
Pcsk6 A T 7: 65,559,950 (GRCm39) I92F probably damaging Het
Plec A G 15: 76,060,445 (GRCm39) V3164A probably benign Het
Prss16 A G 13: 22,190,175 (GRCm39) probably benign Het
Ptch2 T A 4: 116,967,505 (GRCm39) H724Q probably damaging Het
Pzp A T 6: 128,499,077 (GRCm39) F190Y probably damaging Het
Rab6a A G 7: 100,275,809 (GRCm39) T41A probably benign Het
Rbm6 A G 9: 107,660,926 (GRCm39) L879P probably damaging Het
Rem1 T A 2: 152,469,969 (GRCm39) probably benign Het
Rnf17 T C 14: 56,719,554 (GRCm39) S935P probably damaging Het
Ryr1 C A 7: 28,802,254 (GRCm39) V789L probably damaging Het
Scgb2b3 A T 7: 31,059,528 (GRCm39) M82K possibly damaging Het
Sgce T A 6: 4,674,585 (GRCm39) L451F probably damaging Het
Slc25a17 A C 15: 81,207,814 (GRCm39) V258G probably benign Het
Spidr G A 16: 15,784,712 (GRCm39) T452I probably benign Het
Tas2r129 A G 6: 132,928,576 (GRCm39) N171S probably benign Het
Tbc1d24 A T 17: 24,405,114 (GRCm39) V10E probably damaging Het
Tdo2 T G 3: 81,876,885 (GRCm39) M115L probably benign Het
Tdrd9 T C 12: 111,980,935 (GRCm39) probably null Het
Tead1 T A 7: 112,493,601 (GRCm39) I376N probably damaging Het
Tmem26 A G 10: 68,614,488 (GRCm39) H301R possibly damaging Het
Tnxb A G 17: 34,929,134 (GRCm39) T2726A possibly damaging Het
Trim43c T C 9: 88,723,966 (GRCm39) M164T probably benign Het
Trpc1 G A 9: 95,590,288 (GRCm39) S723L probably benign Het
Txndc15 A G 13: 55,865,914 (GRCm39) D126G probably benign Het
Urb1 C T 16: 90,569,463 (GRCm39) probably benign Het
Usp25 C T 16: 76,910,721 (GRCm39) H926Y probably benign Het
Uvssa T A 5: 33,572,180 (GRCm39) M700K possibly damaging Het
Vdac1 T A 11: 52,274,789 (GRCm39) Y146N probably damaging Het
Vmn1r231 A T 17: 21,110,560 (GRCm39) S118R probably benign Het
Vmn1r41 A G 6: 89,724,080 (GRCm39) Y207C probably damaging Het
Vmn2r79 A G 7: 86,687,045 (GRCm39) I809V probably damaging Het
Vnn1 G A 10: 23,776,794 (GRCm39) G382R probably damaging Het
Xcr1 A T 9: 123,685,680 (GRCm39) H27Q probably benign Het
Yeats2 T A 16: 19,975,786 (GRCm39) N94K probably benign Het
Zfp28 C T 7: 6,397,440 (GRCm39) T625M probably damaging Het
Zfp521 T C 18: 13,977,698 (GRCm39) Q905R probably benign Het
Zfp804b T C 5: 6,821,398 (GRCm39) D555G probably damaging Het
Other mutations in Gnpat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Gnpat APN 8 125,603,653 (GRCm39) splice site probably benign
IGL00422:Gnpat APN 8 125,611,752 (GRCm39) missense probably damaging 1.00
IGL01327:Gnpat APN 8 125,605,372 (GRCm39) missense probably damaging 1.00
IGL02257:Gnpat APN 8 125,613,587 (GRCm39) unclassified probably benign
IGL02951:Gnpat APN 8 125,597,644 (GRCm39) missense probably benign 0.01
IGL03084:Gnpat APN 8 125,605,638 (GRCm39) missense probably damaging 0.99
R0114:Gnpat UTSW 8 125,610,096 (GRCm39) missense probably benign 0.06
R0394:Gnpat UTSW 8 125,606,964 (GRCm39) missense possibly damaging 0.82
R1023:Gnpat UTSW 8 125,597,519 (GRCm39) missense probably benign 0.28
R1052:Gnpat UTSW 8 125,605,255 (GRCm39) missense probably damaging 1.00
R1052:Gnpat UTSW 8 125,604,246 (GRCm39) missense probably benign 0.00
R1537:Gnpat UTSW 8 125,597,555 (GRCm39) missense probably damaging 0.97
R1604:Gnpat UTSW 8 125,603,700 (GRCm39) missense probably damaging 1.00
R1711:Gnpat UTSW 8 125,613,691 (GRCm39) splice site probably null
R1754:Gnpat UTSW 8 125,603,745 (GRCm39) missense probably damaging 1.00
R2118:Gnpat UTSW 8 125,603,680 (GRCm39) missense probably damaging 0.99
R2278:Gnpat UTSW 8 125,603,659 (GRCm39) missense probably benign 0.35
R2429:Gnpat UTSW 8 125,603,758 (GRCm39) missense probably damaging 1.00
R4579:Gnpat UTSW 8 125,605,241 (GRCm39) splice site probably null
R6176:Gnpat UTSW 8 125,605,593 (GRCm39) missense probably damaging 1.00
R7017:Gnpat UTSW 8 125,590,014 (GRCm39) missense probably benign 0.33
R7081:Gnpat UTSW 8 125,590,008 (GRCm39) missense possibly damaging 0.53
R7388:Gnpat UTSW 8 125,614,553 (GRCm39) missense probably benign 0.32
R7716:Gnpat UTSW 8 125,603,673 (GRCm39) missense probably benign 0.32
R7848:Gnpat UTSW 8 125,613,630 (GRCm39) missense possibly damaging 0.89
R8169:Gnpat UTSW 8 125,606,869 (GRCm39) missense probably benign 0.02
R8355:Gnpat UTSW 8 125,597,579 (GRCm39) missense probably benign 0.11
R8363:Gnpat UTSW 8 125,590,038 (GRCm39) missense probably benign 0.28
R8851:Gnpat UTSW 8 125,601,004 (GRCm39) missense probably damaging 1.00
R9234:Gnpat UTSW 8 125,610,179 (GRCm39) missense probably damaging 1.00
R9701:Gnpat UTSW 8 125,613,678 (GRCm39) missense probably benign 0.01
X0025:Gnpat UTSW 8 125,600,138 (GRCm39) missense probably null 0.99
Z1177:Gnpat UTSW 8 125,590,035 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCATGTTGAGGGCCTGGAT -3'
(R):5'- TCCACCTGCACACTGGTTTT -3'

Sequencing Primer
(F):5'- GATTTAATCCCCAAGCCTGGAGG -3'
(R):5'- AAGCTGGCCTTGAACTCATG -3'
Posted On 2022-03-25