Incidental Mutation 'R9584:Psph'
ID 722697
Institutional Source Beutler Lab
Gene Symbol Psph
Ensembl Gene ENSMUSG00000029446
Gene Name phosphoserine phosphatase
Synonyms PSPase
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9584 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 129842622-129864318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129847752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 65 (R65C)
Ref Sequence ENSEMBL: ENSMUSP00000031399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031399] [ENSMUST00000118268] [ENSMUST00000136507] [ENSMUST00000201394]
AlphaFold Q99LS3
Predicted Effect probably damaging
Transcript: ENSMUST00000031399
AA Change: R65C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031399
Gene: ENSMUSG00000029446
AA Change: R65C

DomainStartEndE-ValueType
Pfam:Hydrolase 14 191 5.7e-19 PFAM
Pfam:HAD 17 187 4e-13 PFAM
Pfam:UMPH-1 62 192 5.4e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118268
AA Change: R65C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113671
Gene: ENSMUSG00000029446
AA Change: R65C

DomainStartEndE-ValueType
PDB:1L8O|B 1 94 1e-55 PDB
SCOP:d1j97a_ 15 92 2e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136507
SMART Domains Protein: ENSMUSP00000116292
Gene: ENSMUSG00000029446

DomainStartEndE-ValueType
PDB:1NNL|B 1 59 1e-32 PDB
SCOP:d1j97a_ 15 58 2e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201394
AA Change: R65C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144667
Gene: ENSMUSG00000029446
AA Change: R65C

DomainStartEndE-ValueType
Pfam:Hydrolase 14 113 4.5e-6 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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 belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T G 13: 70,949,136 (GRCm39) D175A probably damaging Het
Ankhd1 A T 18: 36,798,504 (GRCm39) N635Y probably benign Het
Asxl2 T C 12: 3,550,667 (GRCm39) V803A possibly damaging Het
Brsk1 T A 7: 4,709,662 (GRCm39) S430T possibly damaging Het
Btbd8 A T 5: 107,658,347 (GRCm39) H1639L probably benign Het
Cacna2d2 T C 9: 107,277,404 (GRCm39) L46P probably damaging Het
Casz1 A G 4: 148,985,704 (GRCm39) probably benign Het
Catsper2 A T 2: 121,230,301 (GRCm39) N344K probably damaging Het
Ccdc80 A G 16: 44,915,675 (GRCm39) S144G probably damaging Het
Cdh10 A T 15: 18,992,095 (GRCm39) L451F probably benign Het
Chil6 A G 3: 106,301,672 (GRCm39) F143L probably damaging Het
Dock7 G A 4: 98,861,481 (GRCm39) R1379* probably null Het
Dop1a C A 9: 86,385,151 (GRCm39) L366I possibly damaging Het
Foxg1 G A 12: 49,432,406 (GRCm39) V380M possibly damaging Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Hipk3 A G 2: 104,301,910 (GRCm39) V94A probably benign Het
Impg1 T C 9: 80,322,849 (GRCm39) H52R probably benign Het
Kcnv2 T C 19: 27,300,265 (GRCm39) S39P probably damaging Het
Knop1 G A 7: 118,447,709 (GRCm39) S417L unknown Het
Muc1 C T 3: 89,138,373 (GRCm39) T405I probably benign Het
Nlrp2 C A 7: 5,322,215 (GRCm39) D811Y probably damaging Het
Nvl A G 1: 180,958,431 (GRCm39) L206S probably benign Het
Or5ac19 A G 16: 59,089,580 (GRCm39) L150S probably benign Het
Or8g17 G A 9: 38,930,462 (GRCm39) A125V probably damaging Het
Orai3 G T 7: 127,373,177 (GRCm39) R226L probably benign Het
Pacs1 T C 19: 5,322,622 (GRCm39) M99V probably benign Het
Pag1 A G 3: 9,761,214 (GRCm39) S298P probably damaging Het
Pde4c T C 8: 71,200,728 (GRCm39) V419A probably benign Het
Pitpna C A 11: 75,510,368 (GRCm39) N208K probably benign Het
Pnpo C A 11: 96,831,705 (GRCm39) E114* probably null Het
Pou5f2 A G 13: 78,173,592 (GRCm39) E178G possibly damaging Het
Sgsh T C 11: 119,241,789 (GRCm39) S106G possibly damaging Het
Synrg A G 11: 83,900,200 (GRCm39) K724R probably damaging Het
Tet1 A T 10: 62,655,306 (GRCm39) F1538L probably damaging Het
Thada G A 17: 84,733,605 (GRCm39) T1014I probably benign Het
Topbp1 T C 9: 103,219,242 (GRCm39) W1165R probably damaging Het
Trrap G A 5: 144,777,330 (GRCm39) V3043M probably damaging Het
Tshz1 G A 18: 84,033,089 (GRCm39) H440Y probably damaging Het
Vwa8 A G 14: 79,394,549 (GRCm39) D1550G probably benign Het
Other mutations in Psph
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0121:Psph UTSW 5 129,868,633 (GRCm39) unclassified probably benign
R0539:Psph UTSW 5 129,843,641 (GRCm39) unclassified probably benign
R0650:Psph UTSW 5 129,868,633 (GRCm39) unclassified probably benign
R1236:Psph UTSW 5 129,848,540 (GRCm39) missense probably damaging 1.00
R1474:Psph UTSW 5 129,848,614 (GRCm39) missense probably damaging 1.00
R1844:Psph UTSW 5 129,843,532 (GRCm39) missense probably damaging 1.00
R2130:Psph UTSW 5 129,864,603 (GRCm39) splice site probably null
R3857:Psph UTSW 5 129,848,540 (GRCm39) missense probably damaging 1.00
R4300:Psph UTSW 5 129,864,529 (GRCm39) splice site probably null
R4368:Psph UTSW 5 129,848,654 (GRCm39) missense probably benign 0.00
R4738:Psph UTSW 5 129,846,450 (GRCm39) critical splice acceptor site probably null
R5306:Psph UTSW 5 129,846,431 (GRCm39) missense probably damaging 1.00
R5859:Psph UTSW 5 129,867,685 (GRCm39) unclassified probably benign
R6269:Psph UTSW 5 129,843,529 (GRCm39) missense probably damaging 0.99
R7552:Psph UTSW 5 129,847,800 (GRCm39) missense probably benign 0.01
R7593:Psph UTSW 5 129,864,337 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ATTGAGACAACCTCCCGGAAG -3'
(R):5'- GTCAGTGAGGTTCTCAAGCC -3'

Sequencing Primer
(F):5'- CTTATGCCAGGAGTCAGA -3'
(R):5'- GTACACAGCACACAGTGTGTCTG -3'
Posted On 2022-08-09