Incidental Mutation 'R3162:Psap'
ID 349851
Institutional Source Beutler Lab
Gene Symbol Psap
Ensembl Gene ENSMUSG00000004207
Gene Name prosaposin
Synonyms SGP-1
MMRRC Submission 040613-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3162 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 60113449-60138376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60113575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 4 (L4P)
Ref Sequence ENSEMBL: ENSMUSP00000101105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004316] [ENSMUST00000105465] [ENSMUST00000177779] [ENSMUST00000179238]
AlphaFold Q61207
Predicted Effect possibly damaging
Transcript: ENSMUST00000004316
AA Change: L4P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000004316
Gene: ENSMUSG00000004207
AA Change: L4P

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
SAPA 21 54 1.4e-18 SMART
SapB 61 138 1.87e-27 SMART
SapB 195 272 1.2e-16 SMART
SapB 314 389 2.07e-20 SMART
low complexity region 412 430 N/A INTRINSIC
SapB 439 514 3.84e-24 SMART
SAPA 523 556 3.19e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105465
AA Change: L4P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101105
Gene: ENSMUSG00000004207
AA Change: L4P

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
SAPA 21 54 1.4e-18 SMART
SapB 61 138 1.87e-27 SMART
SapB 195 270 2.76e-16 SMART
SapB 312 387 2.07e-20 SMART
low complexity region 410 428 N/A INTRINSIC
SapB 437 512 3.84e-24 SMART
SAPA 521 554 3.19e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177779
AA Change: L4P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000137286
Gene: ENSMUSG00000004207
AA Change: L4P

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
SAPA 21 54 1.4e-18 SMART
SapB 61 138 1.87e-27 SMART
SapB 195 273 2.37e-15 SMART
SapB 315 390 2.07e-20 SMART
low complexity region 413 431 N/A INTRINSIC
SapB 440 515 3.84e-24 SMART
SAPA 524 557 3.19e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179238
AA Change: L4P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000137476
Gene: ENSMUSG00000004207
AA Change: L4P

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
SAPA 21 54 1.4e-18 SMART
SapB 61 138 1.87e-27 SMART
SapB 195 273 8.5e-17 SMART
SapB 315 390 2.07e-20 SMART
low complexity region 413 431 N/A INTRINSIC
SapB 440 515 3.84e-24 SMART
SAPA 524 557 3.19e-22 SMART
Meta Mutation Damage Score 0.6915 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: This gene encodes a multifunctional glycoprotein that plays a role in the intracellular metabolism of various sphingolipids or secreted into the plasma, milk or cerebrospinal fluid. The encoded protein undergoes proteolytic processing to generate four different polypeptides known as saposin A, B, C or D, that are required for the hydrolysis of certain sphingolipids by lysosomal hydrolases. Alternately, the encoded protein is secreted into body fluids where it exhibits neurotrophic and myelinotrophic activities. A complete lack of the encoded protein is fatal to mice either at the neonatal stage or within the first month due to severe leukodystrophy and sphingolipid accumulation. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature saposins. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation die either neonatally or around 7 weeks. At 30 days, mutants show hypomyelination, PAS-positive material in the nervous system, and accumulation of ceramides in brain, liver, and kidney. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T A 15: 59,888,134 (GRCm39) E102V probably damaging Het
9930014A18Rik A T 15: 60,695,296 (GRCm39) V150E probably damaging Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
AW551984 C A 9: 39,504,325 (GRCm39) R547L probably damaging Het
B3galt6 A G 4: 156,076,464 (GRCm39) Y204H probably benign Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Ddb1 T C 19: 10,603,335 (GRCm39) L881P probably damaging Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Dennd1c C T 17: 57,373,562 (GRCm39) G637D possibly damaging Het
Dhrs3 A G 4: 144,646,016 (GRCm39) D108G possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dusp6 T C 10: 99,099,944 (GRCm39) Y131H probably damaging Het
Eif2b2 A T 12: 85,266,435 (GRCm39) M34L probably benign Het
Errfi1 G A 4: 150,951,816 (GRCm39) E415K probably damaging Het
Ext1 T C 15: 53,208,000 (GRCm39) N254D possibly damaging Het
Gm13141 GGTTTCTTGATGCC G 4: 147,612,561 (GRCm39) noncoding transcript Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Hpx C T 7: 105,248,847 (GRCm39) probably benign Het
Hyal3 T A 9: 107,464,005 (GRCm39) C407S probably damaging Het
Insr T G 8: 3,211,416 (GRCm39) N1141T possibly damaging Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Ivd T C 2: 118,692,650 (GRCm39) probably null Het
Leprot C T 4: 101,515,090 (GRCm39) T89I probably damaging Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Nusap1 A T 2: 119,460,885 (GRCm39) Q126L possibly damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or5al1 T C 2: 85,990,439 (GRCm39) I92V probably benign Het
Or6x1 G T 9: 40,098,901 (GRCm39) Q163H probably benign Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Pdik1l A G 4: 134,011,561 (GRCm39) L94S probably damaging Het
Pkdrej T A 15: 85,700,818 (GRCm39) D1706V probably damaging Het
Pkhd1l1 A G 15: 44,368,924 (GRCm39) I856M probably damaging Het
Prkcz A T 4: 155,374,981 (GRCm39) D114E probably benign Het
Ptprk T C 10: 28,468,822 (GRCm39) V1402A probably benign Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Rlf A G 4: 121,006,044 (GRCm39) S979P probably damaging Het
Skic2 C T 17: 35,066,789 (GRCm39) W88* probably null Het
Skic8 T A 9: 54,631,473 (GRCm39) probably benign Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Taok2 A G 7: 126,474,347 (GRCm39) I294T possibly damaging Het
Tert A G 13: 73,775,528 (GRCm39) E93G possibly damaging Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Ttc22 A T 4: 106,480,276 (GRCm39) I177F probably damaging Het
Vmn2r86 T C 10: 130,291,673 (GRCm39) R31G probably damaging Het
Wnt5a T C 14: 28,244,445 (GRCm39) Y231H probably benign Het
Zw10 T C 9: 48,988,860 (GRCm39) Y709H probably damaging Het
Other mutations in Psap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Psap APN 10 60,128,316 (GRCm39) missense probably damaging 1.00
IGL01100:Psap APN 10 60,135,708 (GRCm39) missense probably benign 0.03
IGL01122:Psap APN 10 60,135,253 (GRCm39) missense probably benign 0.04
IGL02544:Psap APN 10 60,136,405 (GRCm39) splice site probably benign
twerk UTSW 10 60,136,630 (GRCm39) missense probably damaging 1.00
R0591:Psap UTSW 10 60,136,634 (GRCm39) missense possibly damaging 0.65
R0624:Psap UTSW 10 60,135,345 (GRCm39) splice site probably benign
R1018:Psap UTSW 10 60,136,590 (GRCm39) missense probably damaging 1.00
R1896:Psap UTSW 10 60,130,826 (GRCm39) nonsense probably null
R3161:Psap UTSW 10 60,113,575 (GRCm39) missense possibly damaging 0.95
R3162:Psap UTSW 10 60,113,575 (GRCm39) missense possibly damaging 0.95
R3615:Psap UTSW 10 60,130,383 (GRCm39) missense probably benign 0.06
R3616:Psap UTSW 10 60,130,383 (GRCm39) missense probably benign 0.06
R4622:Psap UTSW 10 60,136,630 (GRCm39) missense probably damaging 1.00
R4623:Psap UTSW 10 60,136,630 (GRCm39) missense probably damaging 1.00
R4666:Psap UTSW 10 60,136,324 (GRCm39) missense probably benign
R5131:Psap UTSW 10 60,135,736 (GRCm39) missense possibly damaging 0.72
R5203:Psap UTSW 10 60,130,755 (GRCm39) missense probably damaging 1.00
R5251:Psap UTSW 10 60,137,479 (GRCm39) missense probably damaging 0.99
R5511:Psap UTSW 10 60,134,959 (GRCm39) missense possibly damaging 0.51
R5764:Psap UTSW 10 60,129,186 (GRCm39) missense probably benign 0.18
R6207:Psap UTSW 10 60,136,317 (GRCm39) missense probably damaging 1.00
R7003:Psap UTSW 10 60,135,276 (GRCm39) missense probably damaging 1.00
R7494:Psap UTSW 10 60,135,275 (GRCm39) missense probably benign 0.00
R7525:Psap UTSW 10 60,135,253 (GRCm39) missense probably benign 0.04
R7711:Psap UTSW 10 60,135,634 (GRCm39) missense probably damaging 0.96
R8252:Psap UTSW 10 60,113,511 (GRCm39) start gained probably benign
R8894:Psap UTSW 10 60,135,736 (GRCm39) missense possibly damaging 0.72
R9062:Psap UTSW 10 60,131,738 (GRCm39) missense possibly damaging 0.49
R9756:Psap UTSW 10 60,130,784 (GRCm39) missense possibly damaging 0.70
X0019:Psap UTSW 10 60,135,694 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GGCGCCTGACCTTGATTTAATC -3'
(R):5'- CACAGGACAAGACGTCTCTC -3'

Sequencing Primer
(F):5'- GCCTGACCTTGATTTAATCACCAG -3'
(R):5'- CCCAGTGCAGAGAATCTGG -3'
Posted On 2015-10-08