Incidental Mutation 'IGL01860:Ptdss2'
ID 178274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptdss2
Ensembl Gene ENSMUSG00000025495
Gene Name phosphatidylserine synthase 2
Synonyms PSS2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL01860
Quality Score
Status
Chromosome 7
Chromosomal Location 140711181-140736071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140732749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 168 (E168G)
Ref Sequence ENSEMBL: ENSMUSP00000133352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026568] [ENSMUST00000172479] [ENSMUST00000172787] [ENSMUST00000209928]
AlphaFold Q9Z1X2
Predicted Effect probably damaging
Transcript: ENSMUST00000026568
AA Change: E206G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026568
Gene: ENSMUSG00000025495
AA Change: E206G

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 damaging
Transcript: ENSMUST00000172787
AA Change: E168G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133352
Gene: ENSMUSG00000025495
AA Change: E168G

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: ENSMUST00000174373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174706
Predicted Effect probably benign
Transcript: ENSMUST00000209928
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,853,914 (GRCm39) N248Y possibly damaging Het
Adamts13 G A 2: 26,868,023 (GRCm39) V128M probably damaging Het
Agl A T 3: 116,566,175 (GRCm39) probably benign Het
Arfgef1 A T 1: 10,224,621 (GRCm39) M1405K probably damaging Het
Atp6v1a G T 16: 43,920,319 (GRCm39) L426M probably damaging Het
Calhm6 A G 10: 34,002,561 (GRCm39) V174A probably damaging Het
Cdc123 A G 2: 5,808,752 (GRCm39) probably benign Het
Cept1 A G 3: 106,438,444 (GRCm39) probably benign Het
Cipc T A 12: 87,007,047 (GRCm39) D60E probably damaging Het
Efcab3 T C 11: 104,581,747 (GRCm39) S30P probably benign Het
Exosc3 A G 4: 45,319,659 (GRCm39) I121T probably benign Het
Fbln5 A G 12: 101,776,128 (GRCm39) Y89H probably damaging Het
Fhod3 T C 18: 25,030,738 (GRCm39) F128L probably damaging Het
Fhod3 T A 18: 25,037,005 (GRCm39) I154N probably damaging Het
Fpgt T C 3: 154,792,483 (GRCm39) T515A probably benign Het
Gas2l2 G A 11: 83,312,906 (GRCm39) T802I probably benign Het
Gm10710 T A 3: 83,035,156 (GRCm39) probably benign Het
Hdac4 A G 1: 91,861,417 (GRCm39) M1051T probably benign Het
Heatr5b A G 17: 79,115,909 (GRCm39) V849A probably damaging Het
Helb T C 10: 119,938,738 (GRCm39) I579V probably damaging Het
Hspa1l A G 17: 35,197,787 (GRCm39) I609V probably benign Het
Itgam C A 7: 127,670,115 (GRCm39) Q136K probably benign Het
Kcnc1 T C 7: 46,077,554 (GRCm39) L452P probably damaging Het
Ltbp4 T A 7: 27,019,071 (GRCm39) T1083S probably damaging Het
Mki67 T C 7: 135,300,686 (GRCm39) I1449M probably damaging Het
Nalf1 A T 8: 9,257,831 (GRCm39) V439E probably damaging Het
P2rx5 T A 11: 73,056,385 (GRCm39) V103E probably damaging Het
Pals1 T C 12: 78,877,681 (GRCm39) V531A possibly damaging Het
Pappa A G 4: 65,123,329 (GRCm39) D888G possibly damaging Het
Pcdhb21 G T 18: 37,647,958 (GRCm39) M362I probably benign Het
Pde1a A G 2: 79,705,628 (GRCm39) S333P probably damaging Het
Ppm1j A G 3: 104,691,408 (GRCm39) T299A probably damaging Het
Pramel46 G A 5: 95,418,510 (GRCm39) T162I probably benign Het
Rspry1 A G 8: 95,376,444 (GRCm39) N322S probably benign Het
Slc7a9 T A 7: 35,156,485 (GRCm39) V309E probably damaging Het
Slco6c1 A G 1: 97,003,548 (GRCm39) probably benign Het
Tas2r120 T A 6: 132,634,227 (GRCm39) M103K probably damaging Het
Tbxas1 T A 6: 38,925,561 (GRCm39) F59I probably damaging Het
Tfpi A G 2: 84,274,378 (GRCm39) S203P probably benign Het
Tram2 T C 1: 21,074,083 (GRCm39) N285S possibly damaging Het
Trio T A 15: 27,846,896 (GRCm39) D980V probably damaging Het
Trpv5 T A 6: 41,637,229 (GRCm39) H419L probably damaging Het
Usp28 C T 9: 48,943,543 (GRCm39) R361* probably null Het
Vmn1r6 T A 6: 56,979,674 (GRCm39) L112* probably null Het
Vmn2r12 A T 5: 109,240,025 (GRCm39) N179K probably benign Het
Vmn2r82 G T 10: 79,214,691 (GRCm39) A225S probably benign Het
Zcchc4 A G 5: 52,965,698 (GRCm39) Y334C probably damaging Het
Zfp609 T C 9: 65,610,116 (GRCm39) E949G possibly damaging Het
Other mutations in Ptdss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Ptdss2 APN 7 140,723,038 (GRCm39) missense probably benign 0.35
IGL01966:Ptdss2 APN 7 140,715,304 (GRCm39) missense possibly damaging 0.66
IGL02606:Ptdss2 APN 7 140,732,911 (GRCm39) nonsense probably null
R0105:Ptdss2 UTSW 7 140,732,793 (GRCm39) missense probably damaging 1.00
R0138:Ptdss2 UTSW 7 140,735,232 (GRCm39) splice site probably benign
R0503:Ptdss2 UTSW 7 140,731,710 (GRCm39) unclassified probably benign
R2397:Ptdss2 UTSW 7 140,727,005 (GRCm39) missense probably benign 0.02
R3120:Ptdss2 UTSW 7 140,732,132 (GRCm39) missense probably damaging 1.00
R4519:Ptdss2 UTSW 7 140,734,491 (GRCm39) missense probably benign 0.30
R4728:Ptdss2 UTSW 7 140,734,372 (GRCm39) missense probably benign 0.30
R5158:Ptdss2 UTSW 7 140,731,684 (GRCm39) missense probably benign 0.16
R6186:Ptdss2 UTSW 7 140,734,862 (GRCm39) unclassified probably benign
R6464:Ptdss2 UTSW 7 140,732,124 (GRCm39) missense probably damaging 1.00
R6580:Ptdss2 UTSW 7 140,732,925 (GRCm39) missense probably damaging 1.00
R7290:Ptdss2 UTSW 7 140,731,693 (GRCm39) missense possibly damaging 0.58
R7307:Ptdss2 UTSW 7 140,731,645 (GRCm39) missense possibly damaging 0.51
R7444:Ptdss2 UTSW 7 140,732,997 (GRCm39) missense possibly damaging 0.94
R9048:Ptdss2 UTSW 7 140,732,797 (GRCm39) missense probably damaging 1.00
R9224:Ptdss2 UTSW 7 140,734,798 (GRCm39) missense probably benign 0.03
Posted On 2014-05-07