Incidental Mutation 'R8237:Ptdss1'
ID 637434
Institutional Source Beutler Lab
Gene Symbol Ptdss1
Ensembl Gene ENSMUSG00000021518
Gene Name phosphatidylserine synthase 1
Synonyms PtdSer Synthase-1, PSS-1
MMRRC Submission 067669-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8237 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 67080894-67146465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67124841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 347 (C347R)
Ref Sequence ENSEMBL: ENSMUSP00000021990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021990]
AlphaFold Q99LH2
Predicted Effect probably damaging
Transcript: ENSMUST00000021990
AA Change: C347R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021990
Gene: ENSMUSG00000021518
AA Change: C347R

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
transmembrane domain 72 89 N/A INTRINSIC
Pfam:PSS 96 372 1.3e-108 PFAM
transmembrane domain 383 405 N/A INTRINSIC
low complexity region 442 464 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.2%
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 formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased phosphatidylethanolamine and phosphatidylserine levels in the liver but normal axon growth and life span. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,771,373 (GRCm39) L285P probably damaging Het
Abca4 T C 3: 121,955,952 (GRCm39) I1905T probably benign Het
Abca5 A T 11: 110,200,981 (GRCm39) I473K probably benign Het
Adgrl3 CAA CA 5: 81,935,408 (GRCm39) probably null Het
Ap2a1 C A 7: 44,550,220 (GRCm39) R959L probably damaging Het
Birc6 G C 17: 74,918,126 (GRCm39) L1845F probably damaging Het
Cbs T C 17: 31,834,454 (GRCm39) I512V probably benign Het
Ccn4 C A 15: 66,791,083 (GRCm39) T295N probably benign Het
Ceacam3 T C 7: 16,897,082 (GRCm39) Y683H Het
Chd8 C T 14: 52,450,809 (GRCm39) S1426N probably damaging Het
Cog8 T C 8: 107,782,923 (GRCm39) D122G probably benign Het
Crybg1 G A 10: 43,842,376 (GRCm39) Q1772* probably null Het
Cspg4 T C 9: 56,799,964 (GRCm39) F1576S probably damaging Het
Ctse T A 1: 131,590,467 (GRCm39) V63E probably benign Het
Dnah3 G T 7: 119,525,636 (GRCm39) T3917N probably benign Het
Dst C T 1: 34,208,874 (GRCm39) T1124M possibly damaging Het
Fkbp10 A G 11: 100,306,785 (GRCm39) Q59R probably damaging Het
Fsip1 A G 2: 118,063,483 (GRCm39) S329P probably damaging Het
Ginm1 G T 10: 7,668,419 (GRCm39) S56R unknown Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Gm6401 T A 14: 41,787,452 (GRCm39) I125F probably damaging Het
Helz2 T C 2: 180,871,124 (GRCm39) D2815G possibly damaging Het
Hes1 T C 16: 29,886,047 (GRCm39) V217A probably damaging Het
Hsd3b1 C T 3: 98,760,426 (GRCm39) M188I possibly damaging Het
Ighv1-75 T C 12: 115,797,876 (GRCm39) probably benign Het
Itprid2 T C 2: 79,487,614 (GRCm39) S566P probably benign Het
Kif1b T A 4: 149,275,642 (GRCm39) N1423I probably benign Het
Lmntd1 G A 6: 145,373,146 (GRCm39) T129M probably damaging Het
Lonrf2 T A 1: 38,839,854 (GRCm39) T414S probably benign Het
Lrp1b T C 2: 40,741,786 (GRCm39) D3161G Het
Lyst T C 13: 13,826,317 (GRCm39) I1608T probably benign Het
Map9 C T 3: 82,284,467 (GRCm39) P347L probably damaging Het
Mixl1 G A 1: 180,524,322 (GRCm39) Q86* probably null Het
Muc5b T C 7: 141,411,697 (GRCm39) S1548P unknown Het
Myo15b A G 11: 115,767,827 (GRCm39) K1376E Het
Nlrc5 A G 8: 95,252,753 (GRCm39) T105A unknown Het
Npepps A G 11: 97,139,026 (GRCm39) probably null Het
Nup205 T A 6: 35,204,438 (GRCm39) F1441L possibly damaging Het
Or5p69 A C 7: 107,967,234 (GRCm39) H179P probably damaging Het
Pbx4 A G 8: 70,317,093 (GRCm39) T117A probably benign Het
Phf2 T A 13: 48,976,514 (GRCm39) T234S unknown Het
Pik3r2 G A 8: 71,224,794 (GRCm39) A194V probably benign Het
Plaat1 C A 16: 29,039,106 (GRCm39) T62K probably benign Het
Plbd2 T C 5: 120,637,114 (GRCm39) D116G probably damaging Het
Plpp2 G A 10: 79,363,294 (GRCm39) A235V possibly damaging Het
Prkce G T 17: 86,866,646 (GRCm39) R502L probably damaging Het
Psrc1 C T 3: 108,293,930 (GRCm39) A249V probably damaging Het
Serpina1b C A 12: 103,785,063 (GRCm39) probably null Het
Spcs1 C G 14: 30,722,658 (GRCm39) A113P noncoding transcript Het
Stxbp2 C T 8: 3,685,695 (GRCm39) T247M Het
Tex15 A G 8: 34,067,427 (GRCm39) T2286A possibly damaging Het
Usp45 T G 4: 21,834,274 (GRCm39) V736G probably damaging Het
Vmn2r69 A G 7: 85,060,340 (GRCm39) S415P probably benign Het
Zfp407 T C 18: 84,578,269 (GRCm39) E948G possibly damaging Het
Zfp942 A T 17: 22,147,226 (GRCm39) C468S possibly damaging Het
Zmym6 A G 4: 127,016,544 (GRCm39) E775G probably damaging Het
Zranb2 A G 3: 157,250,677 (GRCm39) R283G probably null Het
Other mutations in Ptdss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01825:Ptdss1 APN 13 67,135,886 (GRCm39) missense probably benign 0.02
IGL02798:Ptdss1 APN 13 67,124,824 (GRCm39) missense probably damaging 1.00
IGL03114:Ptdss1 APN 13 67,142,058 (GRCm39) nonsense probably null
BB009:Ptdss1 UTSW 13 67,114,496 (GRCm39) missense probably damaging 1.00
BB019:Ptdss1 UTSW 13 67,114,496 (GRCm39) missense probably damaging 1.00
R0344:Ptdss1 UTSW 13 67,081,636 (GRCm39) missense probably damaging 1.00
R0591:Ptdss1 UTSW 13 67,120,714 (GRCm39) splice site probably benign
R0749:Ptdss1 UTSW 13 67,135,914 (GRCm39) nonsense probably null
R0759:Ptdss1 UTSW 13 67,135,868 (GRCm39) missense probably damaging 1.00
R1140:Ptdss1 UTSW 13 67,111,420 (GRCm39) missense probably benign 0.00
R1500:Ptdss1 UTSW 13 67,143,472 (GRCm39) missense probably benign 0.04
R1676:Ptdss1 UTSW 13 67,081,701 (GRCm39) missense probably damaging 1.00
R1761:Ptdss1 UTSW 13 67,104,476 (GRCm39) missense possibly damaging 0.72
R2086:Ptdss1 UTSW 13 67,101,619 (GRCm39) missense probably benign 0.00
R2087:Ptdss1 UTSW 13 67,124,881 (GRCm39) splice site probably benign
R3962:Ptdss1 UTSW 13 67,142,075 (GRCm39) missense probably benign 0.00
R4662:Ptdss1 UTSW 13 67,081,675 (GRCm39) missense possibly damaging 0.95
R4707:Ptdss1 UTSW 13 67,143,482 (GRCm39) critical splice donor site probably null
R4775:Ptdss1 UTSW 13 67,135,922 (GRCm39) splice site probably null
R4993:Ptdss1 UTSW 13 67,093,352 (GRCm39) missense probably benign 0.01
R5402:Ptdss1 UTSW 13 67,081,663 (GRCm39) missense possibly damaging 0.88
R5463:Ptdss1 UTSW 13 67,093,365 (GRCm39) missense probably damaging 1.00
R5643:Ptdss1 UTSW 13 67,120,604 (GRCm39) missense probably damaging 1.00
R5644:Ptdss1 UTSW 13 67,120,604 (GRCm39) missense probably damaging 1.00
R6043:Ptdss1 UTSW 13 67,111,433 (GRCm39) missense probably damaging 1.00
R6145:Ptdss1 UTSW 13 67,120,701 (GRCm39) critical splice donor site probably null
R6726:Ptdss1 UTSW 13 67,101,595 (GRCm39) nonsense probably null
R7016:Ptdss1 UTSW 13 67,120,685 (GRCm39) missense probably benign 0.00
R7116:Ptdss1 UTSW 13 67,093,391 (GRCm39) missense probably benign 0.00
R7339:Ptdss1 UTSW 13 67,111,426 (GRCm39) missense possibly damaging 0.78
R7836:Ptdss1 UTSW 13 67,081,719 (GRCm39) missense probably benign
R7932:Ptdss1 UTSW 13 67,114,496 (GRCm39) missense probably damaging 1.00
R7939:Ptdss1 UTSW 13 67,143,411 (GRCm39) missense probably benign
R8015:Ptdss1 UTSW 13 67,111,407 (GRCm39) missense possibly damaging 0.87
R8767:Ptdss1 UTSW 13 67,101,608 (GRCm39) missense probably benign 0.01
RF044:Ptdss1 UTSW 13 67,093,412 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- TGTAAGCTGAGCTTCCTTCAC -3'
(R):5'- GCAAGGTCTCTGAGTTCTATCAG -3'

Sequencing Primer
(F):5'- GAGCAATGTTTCAATAGCCCTGGC -3'
(R):5'- ACTTAGGGGCTCAAATGG -3'
Posted On 2020-07-13