Incidental Mutation 'R6389:Pisd'
ID 515686
Institutional Source Beutler Lab
Gene Symbol Pisd
Ensembl Gene ENSMUSG00000023452
Gene Name phosphatidylserine decarboxylase
Synonyms 9030221M09Rik
MMRRC Submission 044538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6389 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 32893645-32942990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32922191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 250 (Y250H)
Ref Sequence ENSEMBL: ENSMUSP00000124923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061895] [ENSMUST00000142957] [ENSMUST00000144673]
AlphaFold Q8BSF4
Predicted Effect probably damaging
Transcript: ENSMUST00000061895
AA Change: Y80H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051438
Gene: ENSMUSG00000023452
AA Change: Y80H

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 162 405 1.1e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138360
Predicted Effect unknown
Transcript: ENSMUST00000142779
AA Change: Y70H
SMART Domains Protein: ENSMUSP00000122705
Gene: ENSMUSG00000023452
AA Change: Y70H

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 153 270 1.7e-33 PFAM
Pfam:PS_Dcarbxylase 268 358 2.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142957
AA Change: V56A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000144673
AA Change: Y250H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574
AA Change: Y250H

DomainStartEndE-ValueType
Pfam:Tantalus 158 193 1.2e-15 PFAM
Pfam:PS_Dcarbxylase 332 575 2.1e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145759
Meta Mutation Damage Score 0.1253 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (57/57)
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 phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a null mutation in this gene display embryogenesis defects such as abnormal trophoblast development, abnormal extraembronic tissue morphology and abnormal mitochondrial morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,147,254 (GRCm39) L326R possibly damaging Het
Abcb11 A T 2: 69,154,238 (GRCm39) N109K probably damaging Het
Actn1 T A 12: 80,221,296 (GRCm39) M586L probably benign Het
Ago4 T A 4: 126,401,037 (GRCm39) I603F probably damaging Het
Bicc1 A T 10: 70,794,752 (GRCm39) V135D probably damaging Het
Bms1 T C 6: 118,380,196 (GRCm39) N704D possibly damaging Het
Cadm4 A C 7: 24,198,959 (GRCm39) Q78P probably benign Het
Cfap74 T C 4: 155,507,793 (GRCm39) I248T possibly damaging Het
Clu G C 14: 66,208,771 (GRCm39) probably benign Het
Cnnm3 T C 1: 36,559,603 (GRCm39) V514A probably damaging Het
Cntd1 A T 11: 101,176,577 (GRCm39) I225F probably damaging Het
Col20a1 T C 2: 180,634,376 (GRCm39) probably null Het
Ctnnal1 A G 4: 56,813,849 (GRCm39) V640A probably benign Het
Cul4a A G 8: 13,190,278 (GRCm39) T572A probably benign Het
D16Ertd472e A G 16: 78,342,071 (GRCm39) S270P probably damaging Het
Dmp1 A T 5: 104,360,788 (GRCm39) N488I probably damaging Het
Dnah14 G A 1: 181,478,767 (GRCm39) probably null Het
Dst T C 1: 34,232,265 (GRCm39) L3464P probably damaging Het
Fnbp4 C T 2: 90,575,879 (GRCm39) P27S unknown Het
Fpr-rs3 A T 17: 20,844,230 (GRCm39) F304I probably damaging Het
Gm13941 T C 2: 110,928,734 (GRCm39) Q108R unknown Het
Hcn3 C T 3: 89,058,240 (GRCm39) A339T possibly damaging Het
Inpp5f A G 7: 128,279,780 (GRCm39) D460G probably damaging Het
Ism2 T C 12: 87,329,145 (GRCm39) E253G possibly damaging Het
Klrg1 T C 6: 122,248,431 (GRCm39) N156S probably damaging Het
Ksr2 A G 5: 117,552,907 (GRCm39) N5S probably benign Het
Lrrc7 T G 3: 157,891,063 (GRCm39) E368A probably damaging Het
Ly9 G C 1: 171,424,105 (GRCm39) S482C probably damaging Het
Map3k1 T C 13: 111,905,975 (GRCm39) D289G probably damaging Het
Mcub T C 3: 129,712,357 (GRCm39) T173A probably benign Het
Mup16 T C 4: 61,437,177 (GRCm39) E48G probably damaging Het
Naf1 C T 8: 67,313,680 (GRCm39) S24L possibly damaging Het
Ncoa6 A G 2: 155,237,736 (GRCm39) S2024P probably damaging Het
Nop56 C A 2: 130,119,807 (GRCm39) Q83K probably damaging Het
Nt5e T C 9: 88,245,524 (GRCm39) Y265H probably damaging Het
Odad1 G T 7: 45,597,940 (GRCm39) V617F probably benign Het
Or4a27 A G 2: 88,559,016 (GRCm39) V309A probably benign Het
Or52p2 A T 7: 102,237,679 (GRCm39) N90K probably benign Het
Or5w8 C T 2: 87,688,367 (GRCm39) P283S probably damaging Het
Oxct2a T A 4: 123,217,220 (GRCm39) K54* probably null Het
Oxct2b G T 4: 123,010,367 (GRCm39) D96Y probably benign Het
Plekhm1 G T 11: 103,257,720 (GRCm39) N1071K probably benign Het
Prr11 G A 11: 86,989,564 (GRCm39) T269I possibly damaging Het
Ptpn4 T A 1: 119,649,684 (GRCm39) H304L probably damaging Het
Rrp1b A G 17: 32,275,601 (GRCm39) K383E possibly damaging Het
Sel1l2 C A 2: 140,087,274 (GRCm39) A466S probably damaging Het
Slc9a4 A G 1: 40,619,844 (GRCm39) I57V probably benign Het
Spag9 A G 11: 93,977,137 (GRCm39) E81G probably damaging Het
Tbr1 A G 2: 61,636,631 (GRCm39) probably benign Het
Tnrc6c A G 11: 117,613,567 (GRCm39) D735G probably damaging Het
Tspan17 A T 13: 54,943,429 (GRCm39) probably null Het
Tyw5 T C 1: 57,430,658 (GRCm39) K175R probably damaging Het
Ube2o A C 11: 116,439,684 (GRCm39) I162R probably null Het
Ubr1 G T 2: 120,711,520 (GRCm39) T1458K probably benign Het
Vmn2r16 A T 5: 109,478,344 (GRCm39) Q33L probably benign Het
Zfp1007 G A 5: 109,823,885 (GRCm39) P522S possibly damaging Het
Zfp799 A G 17: 33,039,552 (GRCm39) L238P probably damaging Het
Other mutations in Pisd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Pisd APN 5 32,895,756 (GRCm39) missense probably benign 0.02
IGL00540:Pisd APN 5 32,895,756 (GRCm39) missense probably benign 0.02
IGL00577:Pisd APN 5 32,895,756 (GRCm39) missense probably benign 0.02
IGL00580:Pisd APN 5 32,895,756 (GRCm39) missense probably benign 0.02
IGL00590:Pisd APN 5 32,895,756 (GRCm39) missense probably benign 0.02
IGL00990:Pisd APN 5 32,896,702 (GRCm39) missense probably benign 0.24
IGL01899:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL01908:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL01928:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL01931:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL01935:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL01948:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL01952:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL02195:Pisd APN 5 32,894,659 (GRCm39) missense probably damaging 1.00
shandong UTSW 5 32,922,140 (GRCm39) missense possibly damaging 0.94
R0674:Pisd UTSW 5 32,931,781 (GRCm39) missense probably benign 0.00
R0840:Pisd UTSW 5 32,894,656 (GRCm39) missense probably damaging 1.00
R1976:Pisd UTSW 5 32,896,209 (GRCm39) missense probably damaging 1.00
R1986:Pisd UTSW 5 32,894,672 (GRCm39) missense probably damaging 1.00
R2044:Pisd UTSW 5 32,922,140 (GRCm39) missense possibly damaging 0.94
R5705:Pisd UTSW 5 32,894,707 (GRCm39) missense probably benign 0.14
R5756:Pisd UTSW 5 32,895,842 (GRCm39) missense probably damaging 1.00
R6249:Pisd UTSW 5 32,896,188 (GRCm39) missense probably damaging 1.00
R6913:Pisd UTSW 5 32,894,773 (GRCm39) missense probably damaging 1.00
R7143:Pisd UTSW 5 32,895,846 (GRCm39) missense possibly damaging 0.73
R7571:Pisd UTSW 5 32,894,681 (GRCm39) missense probably damaging 1.00
R7626:Pisd UTSW 5 32,898,032 (GRCm39) missense probably benign 0.04
R8903:Pisd UTSW 5 32,895,755 (GRCm39) missense probably benign 0.18
R9310:Pisd UTSW 5 32,894,784 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GTGTGATTCCTACAGCCACC -3'
(R):5'- TAAGGTCGTCTTTCGGGCTC -3'

Sequencing Primer
(F):5'- GTGATTCCTACAGCCACCCAAAATTC -3'
(R):5'- GTGGTACTGGGATTGCATGAC -3'
Posted On 2018-05-04