Incidental Mutation 'R8851:Gnpat'
ID 675009
Institutional Source Beutler Lab
Gene Symbol Gnpat
Ensembl Gene ENSMUSG00000031985
Gene Name glyceronephosphate O-acyltransferase
Synonyms D1Ertd819e
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.387) question?
Stock # R8851 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 125589772-125616796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125601004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 161 (H161R)
Ref Sequence ENSEMBL: ENSMUSP00000034466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034466] [ENSMUST00000161986]
AlphaFold P98192
Predicted Effect probably damaging
Transcript: ENSMUST00000034466
AA Change: H161R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034466
Gene: ENSMUSG00000031985
AA Change: H161R

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 damaging
Transcript: ENSMUST00000161986
AA Change: H151R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125323
Gene: ENSMUSG00000031985
AA Change: H151R

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: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 T A 1: 173,159,683 (GRCm39) I279F probably benign Het
Adamts7 A G 9: 90,075,163 (GRCm39) N965S probably benign Het
Adgrl3 A G 5: 81,613,119 (GRCm39) Y184C probably damaging Het
Ankar T C 1: 72,691,535 (GRCm39) Y1142C probably damaging Het
Apoa4 A G 9: 46,153,906 (GRCm39) K169R probably benign Het
Cd22 T A 7: 30,577,084 (GRCm39) K74N probably benign Het
Defa39 T A 8: 22,193,555 (GRCm39) I22F possibly damaging Het
Dgcr2 G A 16: 17,690,507 (GRCm39) T41I possibly damaging Het
Dicer1 A G 12: 104,690,300 (GRCm39) V245A possibly damaging Het
Dop1b T A 16: 93,559,398 (GRCm39) S715T probably benign Het
Epb41l1 A T 2: 156,364,431 (GRCm39) H980L probably benign Het
Erc2 A T 14: 28,039,216 (GRCm39) E973V probably null Het
Fam124b T A 1: 80,190,882 (GRCm39) Q167L probably damaging Het
Frmpd2 A G 14: 33,217,643 (GRCm39) E46G probably damaging Het
Gabrb2 G A 11: 42,312,186 (GRCm39) V4I probably benign Het
Gbf1 T A 19: 46,256,922 (GRCm39) N841K probably damaging Het
Gpd2 A T 2: 57,197,062 (GRCm39) M206L possibly damaging Het
Grid2ip T C 5: 143,348,352 (GRCm39) F148L possibly damaging Het
Hemk1 A G 9: 107,213,412 (GRCm39) V128A probably benign Het
Ism1 G T 2: 139,591,465 (GRCm39) S273I probably damaging Het
Kcnab3 G T 11: 69,218,990 (GRCm39) probably null Het
Kdm6b A G 11: 69,291,993 (GRCm39) Y1430H unknown Het
Lama2 A G 10: 27,242,119 (GRCm39) V279A possibly damaging Het
Lmf1 G A 17: 25,804,680 (GRCm39) W119* probably null Het
Lrrc42 A G 4: 107,096,375 (GRCm39) V276A probably benign Het
Magi2 T C 5: 20,270,618 (GRCm39) F163L probably damaging Het
Map2k2 A G 10: 80,955,097 (GRCm39) K196R probably damaging Het
Mfsd11 C A 11: 116,752,479 (GRCm39) D209E probably benign Het
Muc1 C A 3: 89,138,425 (GRCm39) F422L probably benign Het
Muc13 A G 16: 33,631,273 (GRCm39) H391R probably benign Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Nfatc2ip T C 7: 125,986,617 (GRCm39) Q346R probably damaging Het
Or8g2b A G 9: 39,751,600 (GRCm39) Y290C probably damaging Het
Otol1 T A 3: 69,935,299 (GRCm39) D430E probably damaging Het
Pcdh1 T C 18: 38,325,155 (GRCm39) E929G probably damaging Het
Pip4p2 T C 4: 14,912,491 (GRCm39) M200T possibly damaging Het
Plekhf1 C T 7: 37,921,466 (GRCm39) R34H probably damaging Het
Plekhm2 A T 4: 141,358,639 (GRCm39) V622E probably benign Het
Pomt2 G A 12: 87,184,838 (GRCm39) T196I probably damaging Het
Ppp1r12c C T 7: 4,487,703 (GRCm39) G436D probably damaging Het
Prss50 A G 9: 110,687,081 (GRCm39) probably benign Het
Slc29a1 A G 17: 45,900,402 (GRCm39) I176T probably damaging Het
Slc5a9 A T 4: 111,755,790 (GRCm39) V36E probably damaging Het
Slc7a1 A C 5: 148,285,093 (GRCm39) S133R probably damaging Het
Sox17 A G 1: 4,562,073 (GRCm39) Y376H probably benign Het
Spata4 T C 8: 55,062,935 (GRCm39) I280T probably benign Het
Svop T A 5: 114,192,557 (GRCm39) I187F probably damaging Het
Tas2r103 T A 6: 133,013,896 (GRCm39) I57F Het
Tead3 A G 17: 28,551,704 (GRCm39) V463A probably damaging Het
Tenm4 G C 7: 96,501,710 (GRCm39) G1305R probably damaging Het
Top2a A T 11: 98,900,677 (GRCm39) F594L probably damaging Het
Trim23 A G 13: 104,334,573 (GRCm39) T419A possibly damaging Het
Ttn T C 2: 76,629,237 (GRCm39) E12621G probably damaging Het
Ttyh2 A G 11: 114,593,090 (GRCm39) I254V probably benign Het
Vmn2r58 T C 7: 41,487,219 (GRCm39) M559V probably benign Het
Wwp1 A T 4: 19,643,437 (GRCm39) H358Q probably null Het
Zcwpw1 A C 5: 137,820,626 (GRCm39) D597A probably damaging Het
Zfp318 A T 17: 46,710,761 (GRCm39) Y828F probably damaging Het
Zfp608 T A 18: 55,032,194 (GRCm39) N582I possibly 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
R9234:Gnpat UTSW 8 125,610,179 (GRCm39) missense probably damaging 1.00
R9276:Gnpat UTSW 8 125,614,524 (GRCm39) missense probably benign 0.45
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'- CTTGCCACAACTATATCCTTATGTG -3'
(R):5'- TTCAGGTCCTCTAGTGCCCG -3'

Sequencing Primer
(F):5'- ATGTCCCAAATGCTGAGCTG -3'
(R):5'- GCATCATTCCTGCAGAGAGTG -3'
Posted On 2021-07-15