Incidental Mutation 'R5101:Psapl1'
ID 392348
Institutional Source Beutler Lab
Gene Symbol Psapl1
Ensembl Gene ENSMUSG00000043430
Gene Name prosaposin-like 1
Synonyms 2310020A21Rik
MMRRC Submission 042852-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5101 (G1)
Quality Score 90
Status Validated
Chromosome 5
Chromosomal Location 36361365-36363912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36361494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 29 (C29S)
Ref Sequence ENSEMBL: ENSMUSP00000100594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037370] [ENSMUST00000052224] [ENSMUST00000070720] [ENSMUST00000135324]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037370
SMART Domains Protein: ENSMUSP00000041828
Gene: ENSMUSG00000029093

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
low complexity region 54 64 N/A INTRINSIC
low complexity region 89 103 N/A INTRINSIC
low complexity region 106 130 N/A INTRINSIC
VPS10 170 780 N/A SMART
PKD 782 872 7.27e-2 SMART
transmembrane domain 1078 1100 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000052224
AA Change: C29S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100594
Gene: ENSMUSG00000043430
AA Change: C29S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SAPA 25 58 1.19e-12 SMART
SapB 65 143 9.63e-7 SMART
SapB 188 260 8.51e-8 SMART
SapB 296 370 9.82e-22 SMART
SapB 398 473 8.37e-16 SMART
SAPA 482 515 2.01e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000070720
SMART Domains Protein: ENSMUSP00000065292
Gene: ENSMUSG00000029093

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
low complexity region 54 64 N/A INTRINSIC
low complexity region 89 103 N/A INTRINSIC
low complexity region 106 130 N/A INTRINSIC
Blast:VPS10 170 213 2e-22 BLAST
low complexity region 214 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135324
SMART Domains Protein: ENSMUSP00000123543
Gene: ENSMUSG00000029093

DomainStartEndE-ValueType
SCOP:d1eur__ 1 111 2e-3 SMART
Blast:VPS10 1 173 1e-126 BLAST
PDB:4N7E|A 6 117 1e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141508
Meta Mutation Damage Score 0.2708 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 T C 12: 21,423,406 (GRCm39) T10A possibly damaging Het
Adgrg3 T C 8: 95,763,563 (GRCm39) F288S probably benign Het
Ago2 A G 15: 72,991,339 (GRCm39) V533A probably damaging Het
Akap9 T G 5: 4,051,748 (GRCm39) V1505G probably damaging Het
Apob T C 12: 8,061,934 (GRCm39) I3439T probably benign Het
C1qtnf7 T A 5: 43,773,314 (GRCm39) Y204* probably null Het
Cdc42bpb T C 12: 111,265,549 (GRCm39) E1461G probably damaging Het
Cdh3 C T 8: 107,268,024 (GRCm39) A353V possibly damaging Het
Clec4d A G 6: 123,244,071 (GRCm39) Y60C probably damaging Het
Cmya5 T A 13: 93,228,111 (GRCm39) T2326S possibly damaging Het
Cnot1 G A 8: 96,486,815 (GRCm39) L631F possibly damaging Het
Cntnap5a C T 1: 116,370,026 (GRCm39) T881I probably benign Het
Col6a1 T A 10: 76,545,740 (GRCm39) T911S unknown Het
Ctsw A G 19: 5,515,703 (GRCm39) V287A probably benign Het
Cyp2c23 T C 19: 44,017,622 (GRCm39) E2G unknown Het
Cytip A T 2: 58,037,911 (GRCm39) I151N probably damaging Het
Dnah10 A G 5: 124,909,577 (GRCm39) T4399A possibly damaging Het
Dock3 A T 9: 106,846,980 (GRCm39) I883N probably damaging Het
Entpd3 A G 9: 120,395,608 (GRCm39) *530W probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gp1ba G A 11: 70,532,225 (GRCm39) V664M probably benign Het
Gpd2 T A 2: 57,245,913 (GRCm39) I481N probably damaging Het
Gvin-ps5 T C 7: 105,929,096 (GRCm39) noncoding transcript Het
Ildr2 A G 1: 166,135,331 (GRCm39) D342G probably damaging Het
Krt87 A G 15: 101,385,391 (GRCm39) I327T probably benign Het
Lats1 T A 10: 7,588,348 (GRCm39) C988* probably null Het
Lpin2 G A 17: 71,550,965 (GRCm39) W708* probably null Het
Mast4 T C 13: 102,872,864 (GRCm39) D2168G probably benign Het
Myo6 G T 9: 80,177,321 (GRCm39) E606* probably null Het
Nek7 A G 1: 138,443,431 (GRCm39) V174A probably benign Het
Nid1 T A 13: 13,658,339 (GRCm39) C695S probably damaging Het
Nme8 A G 13: 19,875,017 (GRCm39) probably null Het
Nr2c2 T C 6: 92,131,497 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2ag18 A T 7: 106,405,420 (GRCm39) I83K possibly damaging Het
Or4x11 A G 2: 89,867,391 (GRCm39) M43V probably benign Het
Or51ab3 G A 7: 103,201,150 (GRCm39) E53K probably damaging Het
Or9g19 A G 2: 85,600,268 (GRCm39) N41S probably damaging Het
Pms2 A G 5: 143,865,006 (GRCm39) D696G probably damaging Het
Scn3a A T 2: 65,291,850 (GRCm39) V1632D probably damaging Het
Slc22a1 C T 17: 12,886,129 (GRCm39) G168D probably damaging Het
Smad4 A G 18: 73,808,931 (GRCm39) V112A probably benign Het
Smc4 T C 3: 68,935,845 (GRCm39) V796A probably benign Het
Smco4 A G 9: 15,455,968 (GRCm39) E18G unknown Het
Spata31e2 T C 1: 26,722,417 (GRCm39) E921G possibly damaging Het
Sugp2 A G 8: 70,713,139 (GRCm39) E1035G probably damaging Het
Syde2 T C 3: 145,721,393 (GRCm39) S820P probably damaging Het
Syn2 T C 6: 115,240,860 (GRCm39) L410P probably damaging Het
Tmem131l T C 3: 83,844,811 (GRCm39) N466S probably damaging Het
Uba1y T G Y: 821,447 (GRCm39) probably null Het
Unc79 T C 12: 103,078,769 (GRCm39) S1645P probably damaging Het
Vmn2r17 A T 5: 109,576,217 (GRCm39) S363C probably damaging Het
Vmn2r78 T C 7: 86,571,563 (GRCm39) Y458H probably damaging Het
Other mutations in Psapl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Psapl1 APN 5 36,362,975 (GRCm39) missense probably benign
IGL01873:Psapl1 APN 5 36,362,569 (GRCm39) missense possibly damaging 0.66
IGL02590:Psapl1 APN 5 36,362,397 (GRCm39) missense probably benign
IGL02931:Psapl1 APN 5 36,362,233 (GRCm39) missense probably damaging 1.00
R0138:Psapl1 UTSW 5 36,361,975 (GRCm39) missense probably damaging 0.98
R0570:Psapl1 UTSW 5 36,361,624 (GRCm39) missense possibly damaging 0.89
R1313:Psapl1 UTSW 5 36,362,610 (GRCm39) missense probably benign 0.01
R1313:Psapl1 UTSW 5 36,362,610 (GRCm39) missense probably benign 0.01
R2207:Psapl1 UTSW 5 36,362,509 (GRCm39) missense probably damaging 1.00
R2247:Psapl1 UTSW 5 36,362,410 (GRCm39) missense probably benign 0.01
R4792:Psapl1 UTSW 5 36,362,547 (GRCm39) missense probably benign
R4865:Psapl1 UTSW 5 36,362,211 (GRCm39) missense probably damaging 1.00
R5947:Psapl1 UTSW 5 36,361,651 (GRCm39) missense probably benign 0.08
R6015:Psapl1 UTSW 5 36,361,594 (GRCm39) missense probably benign 0.00
R6751:Psapl1 UTSW 5 36,362,303 (GRCm39) nonsense probably null
R7260:Psapl1 UTSW 5 36,362,556 (GRCm39) missense probably benign 0.01
R8112:Psapl1 UTSW 5 36,362,919 (GRCm39) missense probably benign
R8852:Psapl1 UTSW 5 36,362,314 (GRCm39) missense probably damaging 1.00
R9169:Psapl1 UTSW 5 36,362,880 (GRCm39) missense possibly damaging 0.48
Z1176:Psapl1 UTSW 5 36,362,508 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTTCATTCCCAAAGAAGCTAGAC -3'
(R):5'- ACTCTGTAGCACCTGGGTTC -3'

Sequencing Primer
(F):5'- AGGTGGGGCTCTGACTCAG -3'
(R):5'- GTTCACCCCATTGCCAGCAG -3'
Posted On 2016-06-15