Incidental Mutation 'IGL03306:Gpcpd1'
ID416404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpcpd1
Ensembl Gene ENSMUSG00000027346
Gene Nameglycerophosphocholine phosphodiesterase 1
Synonyms2310004G06Rik, 2310032D16Rik, Prei4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.921) question?
Stock #IGL03306
Quality Score
Status
Chromosome2
Chromosomal Location132529082-132587729 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 132534073 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028822] [ENSMUST00000060955] [ENSMUST00000110136] [ENSMUST00000110142] [ENSMUST00000145694] [ENSMUST00000148833] [ENSMUST00000149854]
Predicted Effect silent
Transcript: ENSMUST00000028822
SMART Domains Protein: ENSMUSP00000028822
Gene: ENSMUSG00000027346

DomainStartEndE-ValueType
Pfam:GDPD 142 432 1.3e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000060955
SMART Domains Protein: ENSMUSP00000062221
Gene: ENSMUSG00000027346

DomainStartEndE-ValueType
CBM_2 3 110 3.78e-29 SMART
low complexity region 142 160 N/A INTRINSIC
low complexity region 167 175 N/A INTRINSIC
Pfam:GDPD 326 615 5.3e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110136
SMART Domains Protein: ENSMUSP00000105763
Gene: ENSMUSG00000027346

DomainStartEndE-ValueType
Pfam:GDPD 142 431 4.1e-59 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110142
SMART Domains Protein: ENSMUSP00000105769
Gene: ENSMUSG00000027346

DomainStartEndE-ValueType
CBM_2 3 110 3.78e-29 SMART
low complexity region 142 160 N/A INTRINSIC
low complexity region 167 175 N/A INTRINSIC
Pfam:GDPD 326 615 6.1e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127712
Predicted Effect probably benign
Transcript: ENSMUST00000145694
SMART Domains Protein: ENSMUSP00000116457
Gene: ENSMUSG00000027346

DomainStartEndE-ValueType
CBM_2 3 110 3.78e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148833
SMART Domains Protein: ENSMUSP00000116156
Gene: ENSMUSG00000027346

DomainStartEndE-ValueType
CBM_2 3 99 1.02e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149854
SMART Domains Protein: ENSMUSP00000116949
Gene: ENSMUSG00000027346

DomainStartEndE-ValueType
CBM_2 3 94 5.54e-13 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 T A 7: 76,589,504 F584Y probably damaging Het
Amer2 C A 14: 60,378,552 D65E probably damaging Het
Arhgap28 A T 17: 67,852,935 L623Q probably damaging Het
Cep152 T C 2: 125,605,408 T407A possibly damaging Het
Cmpk2 A G 12: 26,471,443 D238G possibly damaging Het
Fam169a C A 13: 97,106,989 Q176K possibly damaging Het
Fbxo17 T A 7: 28,735,357 I189N probably damaging Het
Gm5581 T A 6: 131,168,081 noncoding transcript Het
Lhx2 A G 2: 38,354,616 Y123C probably damaging Het
Llgl1 C A 11: 60,711,354 T741N possibly damaging Het
Macc1 A G 12: 119,446,868 Q457R probably benign Het
Mthfd2l A G 5: 91,020,208 T321A probably damaging Het
Myo6 T C 9: 80,246,555 F271S probably damaging Het
Ncoa6 A G 2: 155,405,507 V1959A probably benign Het
Npsr1 A G 9: 24,313,239 D304G probably benign Het
Nup205 T C 6: 35,208,169 V841A probably damaging Het
Olfr352 A T 2: 36,870,525 probably benign Het
Olfr95 A G 17: 37,211,677 Y59H probably damaging Het
Osbpl9 A G 4: 109,172,332 probably benign Het
Pdgfra A G 5: 75,192,533 N995D possibly damaging Het
Ptgs1 A T 2: 36,237,705 H92L probably damaging Het
Rasd1 T A 11: 59,964,355 I100F possibly damaging Het
Rbm26 T C 14: 105,151,322 T378A probably damaging Het
Slc12a3 T C 8: 94,351,758 S805P possibly damaging Het
Smarcal1 G A 1: 72,626,466 V708I probably benign Het
Strn A G 17: 78,667,223 S408P probably damaging Het
Suclg1 A G 6: 73,270,992 N232S probably benign Het
Tmbim1 A G 1: 74,293,066 Y101H probably damaging Het
Ube3a T A 7: 59,286,147 L614Q probably damaging Het
Wrn A G 8: 33,336,121 L171P probably damaging Het
Zfp335 T C 2: 164,895,984 probably benign Het
Other mutations in Gpcpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Gpcpd1 APN 2 132556983 splice site probably null
IGL00672:Gpcpd1 APN 2 132530548 utr 3 prime probably benign
IGL00676:Gpcpd1 APN 2 132554011 missense probably damaging 1.00
IGL00832:Gpcpd1 APN 2 132546850 missense probably damaging 1.00
IGL00931:Gpcpd1 APN 2 132538118 missense probably benign 0.00
IGL01309:Gpcpd1 APN 2 132550324 missense probably damaging 0.97
IGL01960:Gpcpd1 APN 2 132539898 critical splice donor site probably null
IGL02110:Gpcpd1 APN 2 132530610 nonsense probably null
IGL02267:Gpcpd1 APN 2 132568710 missense probably damaging 1.00
IGL02570:Gpcpd1 APN 2 132547685 missense probably benign 0.01
IGL02588:Gpcpd1 APN 2 132534753 missense probably damaging 1.00
Baependi UTSW 2 132544435 missense probably damaging 1.00
R0413:Gpcpd1 UTSW 2 132564623 splice site probably benign
R1876:Gpcpd1 UTSW 2 132534753 missense probably damaging 1.00
R4276:Gpcpd1 UTSW 2 132540287 missense probably damaging 0.99
R4571:Gpcpd1 UTSW 2 132550350 missense probably benign 0.05
R4849:Gpcpd1 UTSW 2 132534099 missense probably damaging 1.00
R4930:Gpcpd1 UTSW 2 132546874 missense probably damaging 1.00
R5060:Gpcpd1 UTSW 2 132544435 missense probably damaging 1.00
R5081:Gpcpd1 UTSW 2 132547702 missense probably benign 0.17
R5148:Gpcpd1 UTSW 2 132534190 nonsense probably null
R5189:Gpcpd1 UTSW 2 132553972 missense probably damaging 1.00
R5344:Gpcpd1 UTSW 2 132558677 intron probably benign
R5623:Gpcpd1 UTSW 2 132534717 missense probably damaging 1.00
R6086:Gpcpd1 UTSW 2 132538114 missense probably damaging 1.00
R6787:Gpcpd1 UTSW 2 132537838 intron probably benign
R6885:Gpcpd1 UTSW 2 132554074 missense possibly damaging 0.56
R7223:Gpcpd1 UTSW 2 132534056 missense probably benign 0.00
R7261:Gpcpd1 UTSW 2 132568699 missense probably damaging 0.97
R7900:Gpcpd1 UTSW 2 132534739 missense probably damaging 0.99
R7983:Gpcpd1 UTSW 2 132534739 missense probably damaging 0.99
X0018:Gpcpd1 UTSW 2 132534769 missense probably damaging 1.00
X0060:Gpcpd1 UTSW 2 132534781 missense probably damaging 1.00
X0066:Gpcpd1 UTSW 2 132544395 missense probably benign 0.33
Posted On2016-08-02