Incidental Mutation 'IGL00673:Ptdss2'
ID13207
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptdss2
Ensembl Gene ENSMUSG00000025495
Gene Namephosphatidylserine synthase 2
SynonymsPSS2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL00673
Quality Score
Status
Chromosome7
Chromosomal Location141122382-141157606 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 141143125 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 84 (C84F)
Ref Sequence ENSEMBL: ENSMUSP00000026568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026568] [ENSMUST00000172479] [ENSMUST00000172787] [ENSMUST00000174058]
Predicted Effect probably benign
Transcript: ENSMUST00000026568
AA Change: C84F

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026568
Gene: ENSMUSG00000025495
AA Change: C84F

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
transmembrane domain 73 90 N/A INTRINSIC
Pfam:PSS 98 378 1.8e-113 PFAM
transmembrane domain 388 410 N/A INTRINSIC
low complexity region 438 459 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172479
Predicted Effect probably benign
Transcript: ENSMUST00000172787
AA Change: C46F

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133352
Gene: ENSMUSG00000025495
AA Change: C46F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 35 52 N/A INTRINSIC
Pfam:PSS 60 191 7.3e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173721
Predicted Effect probably benign
Transcript: ENSMUST00000174058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210026
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016]
PHENOTYPE: Disruption of this gene causes infertility in about 10% of homozygous males. The remaining males and all females were fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T C 9: 90,193,661 S1191P possibly damaging Het
Alg2 C T 4: 47,472,329 D160N probably damaging Het
Cd177 A T 7: 24,752,017 F487Y possibly damaging Het
Cdc27 A G 11: 104,528,435 Y224H probably damaging Het
Cdhr1 A G 14: 37,085,528 V385A probably benign Het
Cep128 G T 12: 91,234,191 H31Q probably benign Het
Ehd4 A G 2: 120,102,220 S242P probably damaging Het
Esco1 A G 18: 10,582,078 F647L probably damaging Het
Itgbl1 C T 14: 123,846,432 probably benign Het
Kcnj3 G T 2: 55,595,272 D461Y possibly damaging Het
Kcnq3 G A 15: 65,995,271 T841M probably damaging Het
Kcnt2 T G 1: 140,596,051 N1103K possibly damaging Het
Mib1 A G 18: 10,798,490 S784G probably benign Het
Miga2 T G 2: 30,367,717 M9R probably benign Het
Mpp5 C A 12: 78,829,799 R506S possibly damaging Het
Prl2a1 T C 13: 27,808,453 S187P probably damaging Het
Psg28 A G 7: 18,427,891 V229A probably damaging Het
Recql T A 6: 142,376,921 N85I probably null Het
Tex47 A T 5: 7,305,211 I131F probably damaging Het
Tlk1 G T 2: 70,745,516 Q323K probably damaging Het
Other mutations in Ptdss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01860:Ptdss2 APN 7 141152836 missense probably damaging 1.00
IGL01966:Ptdss2 APN 7 141135391 missense possibly damaging 0.66
IGL02606:Ptdss2 APN 7 141152998 nonsense probably null
R0105:Ptdss2 UTSW 7 141152880 missense probably damaging 1.00
R0138:Ptdss2 UTSW 7 141155319 splice site probably benign
R0503:Ptdss2 UTSW 7 141151797 unclassified probably benign
R2397:Ptdss2 UTSW 7 141147092 missense probably benign 0.02
R3120:Ptdss2 UTSW 7 141152219 missense probably damaging 1.00
R4519:Ptdss2 UTSW 7 141154578 missense probably benign 0.30
R4728:Ptdss2 UTSW 7 141154459 missense probably benign 0.30
R5158:Ptdss2 UTSW 7 141151771 missense probably benign 0.16
R6186:Ptdss2 UTSW 7 141154949 unclassified probably benign
R6464:Ptdss2 UTSW 7 141152211 missense probably damaging 1.00
R6580:Ptdss2 UTSW 7 141153012 missense probably damaging 1.00
R7290:Ptdss2 UTSW 7 141151780 missense possibly damaging 0.58
R7307:Ptdss2 UTSW 7 141151732 missense possibly damaging 0.51
R7444:Ptdss2 UTSW 7 141153084 missense possibly damaging 0.94
Posted On2012-12-06