Incidental Mutation 'IGL03291:Gdpd5'
ID415923
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdpd5
Ensembl Gene ENSMUSG00000035314
Gene Nameglycerophosphodiester phosphodiesterase domain containing 5
SynonymsGde2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03291
Quality Score
Status
Chromosome7
Chromosomal Location99381414-99461877 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to C at 99460121 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037528] [ENSMUST00000213887]
Predicted Effect probably benign
Transcript: ENSMUST00000037528
SMART Domains Protein: ENSMUSP00000036175
Gene: ENSMUSG00000035314

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
transmembrane domain 92 114 N/A INTRINSIC
transmembrane domain 127 146 N/A INTRINSIC
transmembrane domain 161 180 N/A INTRINSIC
transmembrane domain 193 215 N/A INTRINSIC
Pfam:GDPD 233 380 9.8e-17 PFAM
transmembrane domain 498 517 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213887
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired motor neuron differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T A 7: 144,621,675 E502V probably damaging Het
Atic T C 1: 71,570,922 V364A probably benign Het
Cfap44 A T 16: 44,407,311 H125L possibly damaging Het
Ctnna2 T A 6: 76,973,712 E227V probably damaging Het
Ctsf A G 19: 4,859,634 I378V probably benign Het
Eya1 C T 1: 14,184,348 probably null Het
Fat2 C T 11: 55,262,595 R3597H probably benign Het
Glcci1 T A 6: 8,579,678 I293K probably damaging Het
Gm16503 T A 4: 147,541,078 Y10N unknown Het
Gm5930 A T 14: 44,331,448 I239N possibly damaging Het
Grm5 T C 7: 88,130,796 L1148P probably damaging Het
Kmt2e T A 5: 23,499,291 L1161I probably damaging Het
Megf9 C T 4: 70,488,150 V260I probably benign Het
Mme T A 3: 63,346,104 D456E probably benign Het
Mup8 T A 4: 60,221,950 E61V probably damaging Het
Olfml1 A G 7: 107,590,229 D167G probably damaging Het
Olfr615 T A 7: 103,560,912 M145K possibly damaging Het
Piezo2 T C 18: 63,021,308 K2467E probably damaging Het
Plscr1 T A 9: 92,266,870 F254L probably damaging Het
Prol1 A T 5: 88,328,520 K256N unknown Het
Rapgef4 A T 2: 72,195,703 L339F probably damaging Het
Slc27a2 T C 2: 126,564,750 I118T probably benign Het
Smim7 A T 8: 72,569,994 F19L possibly damaging Het
Svil T A 18: 5,056,150 L428* probably null Het
Tcof1 T C 18: 60,829,061 T699A possibly damaging Het
Thsd7b T A 1: 129,760,355 S668T possibly damaging Het
Tmprss7 T C 16: 45,680,748 D230G probably benign Het
Tyw1 A G 5: 130,299,993 D540G probably damaging Het
Zfp763 A G 17: 33,019,886 V95A probably damaging Het
Other mutations in Gdpd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0149:Gdpd5 UTSW 7 99458790 missense possibly damaging 0.49
R0361:Gdpd5 UTSW 7 99458790 missense possibly damaging 0.49
R0811:Gdpd5 UTSW 7 99438333 missense probably damaging 1.00
R0812:Gdpd5 UTSW 7 99438333 missense probably damaging 1.00
R1633:Gdpd5 UTSW 7 99448513 missense probably benign
R1864:Gdpd5 UTSW 7 99448999 missense probably benign 0.04
R1885:Gdpd5 UTSW 7 99459997 missense probably benign 0.29
R2099:Gdpd5 UTSW 7 99448489 missense probably damaging 1.00
R3776:Gdpd5 UTSW 7 99454572 missense probably benign 0.04
R3913:Gdpd5 UTSW 7 99438339 missense probably null 0.23
R5198:Gdpd5 UTSW 7 99438308 missense probably damaging 1.00
R5318:Gdpd5 UTSW 7 99453027 missense probably benign 0.03
R7356:Gdpd5 UTSW 7 99458878 missense probably damaging 1.00
R7654:Gdpd5 UTSW 7 99424189 missense probably damaging 1.00
R7741:Gdpd5 UTSW 7 99453794 missense probably damaging 1.00
R8165:Gdpd5 UTSW 7 99456482 missense probably benign 0.01
R8506:Gdpd5 UTSW 7 99453950 missense probably benign 0.30
Posted On2016-08-02