Incidental Mutation 'R0840:Pisd'
ID 77102
Institutional Source Beutler Lab
Gene Symbol Pisd
Ensembl Gene ENSMUSG00000023452
Gene Name phosphatidylserine decarboxylase
Synonyms 9030221M09Rik
MMRRC Submission 039019-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0840 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 32893645-32942990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32894656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 380 (I380T)
Ref Sequence ENSEMBL: ENSMUSP00000051438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061895] [ENSMUST00000071829] [ENSMUST00000120591] [ENSMUST00000135248] [ENSMUST00000144673] [ENSMUST00000142957] [ENSMUST00000202283] [ENSMUST00000197787] [ENSMUST00000200390]
AlphaFold Q8BSF4
Predicted Effect probably damaging
Transcript: ENSMUST00000061895
AA Change: I380T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051438
Gene: ENSMUSG00000023452
AA Change: I380T

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 162 405 1.1e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071829
SMART Domains Protein: ENSMUSP00000071732
Gene: ENSMUSG00000023452

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 131 260 3.9e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119864
Predicted Effect probably damaging
Transcript: ENSMUST00000120591
AA Change: I349T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112573
Gene: ENSMUSG00000023452
AA Change: I349T

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 131 374 1.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138360
Predicted Effect probably damaging
Transcript: ENSMUST00000144673
AA Change: I550T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574
AA Change: I550T

DomainStartEndE-ValueType
Pfam:Tantalus 158 193 1.2e-15 PFAM
Pfam:PS_Dcarbxylase 332 575 2.1e-71 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000142779
AA Change: I332T
SMART Domains Protein: ENSMUSP00000122705
Gene: ENSMUSG00000023452
AA Change: I332T

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 153 270 1.7e-33 PFAM
Pfam:PS_Dcarbxylase 268 358 2.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202224
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201980
Predicted Effect probably benign
Transcript: ENSMUST00000142957
Predicted Effect probably benign
Transcript: ENSMUST00000202283
Predicted Effect probably benign
Transcript: ENSMUST00000197787
Predicted Effect probably benign
Transcript: ENSMUST00000200390
Meta Mutation Damage Score 0.6197 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C G 12: 71,205,657 (GRCm39) Q434E probably benign Het
A930011G23Rik T C 5: 99,382,547 (GRCm39) T234A probably benign Het
Acot5 G A 12: 84,122,614 (GRCm39) W399* probably null Het
Adra1a A G 14: 66,965,159 (GRCm39) E383G possibly damaging Het
Ahnak T A 19: 8,982,427 (GRCm39) I1237N probably damaging Het
Bsg A G 10: 79,545,519 (GRCm39) T28A probably damaging Het
Cacna1i A T 15: 80,243,150 (GRCm39) I436F possibly damaging Het
Cd109 T C 9: 78,571,612 (GRCm39) I417T probably benign Het
Cep295 A T 9: 15,245,611 (GRCm39) D948E probably benign Het
Cfap92 G T 6: 87,657,260 (GRCm39) noncoding transcript Het
Clcn3 C A 8: 61,382,188 (GRCm39) V467F probably benign Het
Cntnap3 T C 13: 64,935,724 (GRCm39) S380G possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dll4 T A 2: 119,156,966 (GRCm39) N79K probably benign Het
Ep300 A T 15: 81,529,134 (GRCm39) N1558I unknown Het
Fblim1 A G 4: 141,308,320 (GRCm39) F330L possibly damaging Het
Fbxo46 T A 7: 18,871,073 (GRCm39) M564K possibly damaging Het
Fnip1 T A 11: 54,384,007 (GRCm39) probably benign Het
Foxl2 A T 9: 98,837,984 (GRCm39) K91* probably null Het
Gapvd1 C A 2: 34,619,125 (GRCm39) V83F probably benign Het
Guk1 G A 11: 59,075,921 (GRCm39) R146C probably damaging Het
Irf8 G A 8: 121,480,220 (GRCm39) G153S probably benign Het
Kcnu1 T A 8: 26,403,712 (GRCm39) M1K probably null Het
Krt32 G A 11: 99,972,068 (GRCm39) P427S probably benign Het
Lrp12 A G 15: 39,739,554 (GRCm39) S529P probably damaging Het
Mettl22 T C 16: 8,300,021 (GRCm39) V134A probably damaging Het
Morc2b G T 17: 33,355,086 (GRCm39) H895Q probably benign Het
Nrros T C 16: 31,962,241 (GRCm39) D556G probably damaging Het
Nrxn3 A G 12: 90,298,567 (GRCm39) S1367G possibly damaging Het
Or10al7 A G 17: 38,366,463 (GRCm39) F7S probably benign Het
Or56b1b A T 7: 108,164,823 (GRCm39) S60T probably benign Het
Pcnx3 T A 19: 5,735,729 (GRCm39) probably null Het
Pgap2 A T 7: 101,886,655 (GRCm39) M226L probably damaging Het
Pik3c2g A G 6: 139,841,798 (GRCm39) I616M probably damaging Het
Pkhd1 T C 1: 20,420,745 (GRCm39) I2454V probably damaging Het
Plpp2 A G 10: 79,363,378 (GRCm39) I151T probably benign Het
Polr3a G A 14: 24,502,268 (GRCm39) T1295I possibly damaging Het
Pot1a T C 6: 25,748,283 (GRCm39) probably benign Het
Prpf39 T G 12: 65,094,980 (GRCm39) N219K probably benign Het
Rnf17 T A 14: 56,712,904 (GRCm39) N790K probably damaging Het
Slit3 C T 11: 35,514,263 (GRCm39) probably benign Het
Stx1a T A 5: 135,070,088 (GRCm39) probably benign Het
Tenm3 C A 8: 48,788,777 (GRCm39) V690F probably damaging Het
Tmcc3 A G 10: 94,414,633 (GRCm39) I143V probably benign Het
Tmem41b G A 7: 109,580,256 (GRCm39) S36F probably damaging Het
Trim5 A T 7: 103,914,978 (GRCm39) W364R probably damaging Het
Ttn T C 2: 76,617,155 (GRCm39) Y16403C probably damaging Het
Vps8 T C 16: 21,275,071 (GRCm39) S210P probably damaging Het
Zbtb3 T A 19: 8,780,821 (GRCm39) S145T possibly damaging Het
Zfp882 T A 8: 72,668,530 (GRCm39) C452* probably null 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
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
R6389:Pisd UTSW 5 32,922,191 (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'- TTTGGGGTCAAATCACACCCACC -3'
(R):5'- GCGCTAACCTTTCAGCATTTATGTCTG -3'

Sequencing Primer
(F):5'- TCTAGGTCCTGTCCTGAGAGAC -3'
(R):5'- GCCTTGTCAAAGTCACAGC -3'
Posted On 2013-10-16