Incidental Mutation 'IGL02606:Ptdss2'
ID 300268
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: 0.090) question?
Stock # IGL02606
Quality Score
Status
Chromosome 7
Chromosomal Location 140711181-140736071 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 140732911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 231 (C231*)
Ref Sequence ENSEMBL: ENSMUSP00000026568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026568] [ENSMUST00000172479] [ENSMUST00000172787] [ENSMUST00000209928]
AlphaFold Q9Z1X2
Predicted Effect probably null
Transcript: ENSMUST00000026568
AA Change: C231*
SMART Domains Protein: ENSMUSP00000026568
Gene: ENSMUSG00000025495
AA Change: C231*

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
SMART Domains Protein: ENSMUSP00000133352
Gene: ENSMUSG00000025495

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,099,978 (GRCm39) N74I probably benign Het
Abr T C 11: 76,369,990 (GRCm39) K75R probably damaging Het
Adcy10 A C 1: 165,347,087 (GRCm39) D368A possibly damaging Het
Alas1 A G 9: 106,118,309 (GRCm39) probably benign Het
Alms1 T A 6: 85,576,949 (GRCm39) D168E probably benign Het
Ankar C T 1: 72,729,444 (GRCm39) A82T possibly damaging Het
Atp2c2 C T 8: 120,457,013 (GRCm39) T205I probably benign Het
Atp9a A T 2: 168,494,588 (GRCm39) L639Q probably damaging Het
Btf3l4 T C 4: 108,675,411 (GRCm39) D134G probably benign Het
Cacna1s T C 1: 136,007,257 (GRCm39) C425R probably damaging Het
Cct6b G T 11: 82,627,271 (GRCm39) T322N probably damaging Het
Col19a1 G A 1: 24,573,197 (GRCm39) R192* probably null Het
Cyp8b1 A T 9: 121,744,801 (GRCm39) F177Y probably damaging Het
Dnajc11 T A 4: 152,063,941 (GRCm39) N474K probably benign Het
Dusp16 T C 6: 134,737,999 (GRCm39) E13G probably damaging Het
Ephx2 T C 14: 66,323,741 (GRCm39) N397S probably damaging Het
Fancm T C 12: 65,122,913 (GRCm39) V145A possibly damaging Het
Fiz1 A G 7: 5,012,158 (GRCm39) L120P possibly damaging Het
Galnt6 C T 15: 100,612,100 (GRCm39) V181M probably damaging Het
Ginm1 A G 10: 7,646,163 (GRCm39) V279A probably damaging Het
Gja10 T G 4: 32,601,509 (GRCm39) I292L probably benign Het
Gnb3 T C 6: 124,814,378 (GRCm39) S136G probably benign Het
Gramd1a A T 7: 30,833,940 (GRCm39) V495E probably damaging Het
Il1rn G T 2: 24,235,462 (GRCm39) probably benign Het
Itpr3 A G 17: 27,333,486 (GRCm39) probably benign Het
Kctd1 A G 18: 15,195,937 (GRCm39) S229P possibly damaging Het
Kdm4a T C 4: 118,017,486 (GRCm39) T527A probably benign Het
Kif14 C T 1: 136,424,331 (GRCm39) A982V probably damaging Het
Klf6 A G 13: 5,916,734 (GRCm39) K293R probably damaging Het
Letmd1 A G 15: 100,372,972 (GRCm39) D92G probably damaging Het
Lmod1 G A 1: 135,292,218 (GRCm39) V358M probably benign Het
Ndufs1 A T 1: 63,199,011 (GRCm39) D295E probably damaging Het
Nek4 A G 14: 30,685,916 (GRCm39) N283S probably benign Het
Nhsl1 A G 10: 18,387,385 (GRCm39) T220A probably damaging Het
Nucks1 T A 1: 131,852,363 (GRCm39) D71E probably damaging Het
Or4n4 T C 14: 50,519,530 (GRCm39) Y60C probably damaging Het
Or8g18 C A 9: 39,149,490 (GRCm39) V77F probably damaging Het
Pkhd1l1 A G 15: 44,452,852 (GRCm39) T3926A probably benign Het
Pptc7 T A 5: 122,451,651 (GRCm39) probably benign Het
Prdm11 A G 2: 92,805,948 (GRCm39) V334A probably benign Het
R3hdm1 C T 1: 128,118,456 (GRCm39) P570S probably benign Het
Rlbp1 T C 7: 79,027,037 (GRCm39) T208A possibly damaging Het
Rnaseh2a T G 8: 85,686,723 (GRCm39) D142A probably damaging Het
Rufy4 C T 1: 74,172,509 (GRCm39) probably benign Het
Tektl1 A G 10: 78,584,300 (GRCm39) Y372H probably benign Het
Tlcd4 G T 3: 121,022,013 (GRCm39) D128E possibly damaging Het
Ttn A G 2: 76,646,565 (GRCm39) I11081T possibly damaging Het
Ubap2l A T 3: 89,945,735 (GRCm39) S173R probably damaging Het
Vmn1r80 A G 7: 11,926,959 (GRCm39) N23S probably damaging Het
Vwce C A 19: 10,632,712 (GRCm39) probably benign Het
Other mutations in Ptdss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Ptdss2 APN 7 140,723,038 (GRCm39) missense probably benign 0.35
IGL01860:Ptdss2 APN 7 140,732,749 (GRCm39) missense probably damaging 1.00
IGL01966:Ptdss2 APN 7 140,715,304 (GRCm39) missense possibly damaging 0.66
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 2015-04-16