Incidental Mutation 'R7003:Psap'
ID 544678
Institutional Source Beutler Lab
Gene Symbol Psap
Ensembl Gene ENSMUSG00000004207
Gene Name prosaposin
Synonyms SGP-1
MMRRC Submission 045108-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 60113449-60138376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60135276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 317 (C317S)
Ref Sequence ENSEMBL: ENSMUSP00000137476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004316] [ENSMUST00000073242] [ENSMUST00000105461] [ENSMUST00000105462] [ENSMUST00000105463] [ENSMUST00000105464] [ENSMUST00000105465] [ENSMUST00000165878] [ENSMUST00000177779] [ENSMUST00000179238]
AlphaFold Q61207
Predicted Effect probably damaging
Transcript: ENSMUST00000004316
AA Change: C316S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004316
Gene: ENSMUSG00000004207
AA Change: C316S

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 probably benign
Transcript: ENSMUST00000073242
SMART Domains Protein: ENSMUSP00000072973
Gene: ENSMUSG00000012819

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 55 130 5.15e-13 SMART
CA 154 234 3.19e-18 SMART
CA 258 346 2.03e-11 SMART
CA 371 458 8.11e-11 SMART
CA 482 559 1.04e-22 SMART
CA 583 669 3.55e-25 SMART
CA 693 776 2.04e-25 SMART
CA 800 888 5.03e-16 SMART
CA 912 993 1.05e-27 SMART
CA 1017 1100 1.99e-19 SMART
CA 1124 1206 6.94e-19 SMART
CA 1231 1311 1.99e-19 SMART
CA 1335 1415 1.21e-18 SMART
CA 1440 1524 2.38e-26 SMART
CA 1549 1631 6.27e-26 SMART
CA 1656 1741 6.99e-24 SMART
CA 1765 1848 3.49e-24 SMART
CA 1872 1956 2.78e-18 SMART
CA 1984 2066 5.6e-14 SMART
CA 2090 2171 2.59e-27 SMART
CA 2195 2290 2.87e-11 SMART
CA 2317 2399 1.01e-20 SMART
CA 2423 2506 1.09e-25 SMART
CA 2530 2608 7.91e-23 SMART
CA 2634 2719 1.06e-23 SMART
CA 2750 2843 2e-10 SMART
Blast:CA 2867 2956 4e-51 BLAST
transmembrane domain 3067 3089 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105461
SMART Domains Protein: ENSMUSP00000101101
Gene: ENSMUSG00000012819

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 55 130 5.15e-13 SMART
CA 154 234 3.19e-18 SMART
CA 258 346 2.03e-11 SMART
CA 371 458 1.25e-11 SMART
CA 482 559 1.04e-22 SMART
CA 583 669 3.55e-25 SMART
CA 693 776 2.04e-25 SMART
CA 800 888 5.03e-16 SMART
CA 912 993 1.05e-27 SMART
CA 1017 1100 1.99e-19 SMART
CA 1124 1206 6.94e-19 SMART
CA 1231 1311 1.99e-19 SMART
CA 1335 1416 5.26e-19 SMART
CA 1441 1525 2.38e-26 SMART
CA 1550 1632 6.27e-26 SMART
CA 1657 1742 6.99e-24 SMART
CA 1766 1849 3.49e-24 SMART
CA 1873 1957 2.78e-18 SMART
CA 1985 2067 5.6e-14 SMART
CA 2091 2172 2.59e-27 SMART
CA 2196 2291 2.87e-11 SMART
CA 2318 2400 1.01e-20 SMART
CA 2424 2507 1.09e-25 SMART
CA 2531 2609 7.91e-23 SMART
CA 2635 2720 1.06e-23 SMART
CA 2751 2844 2e-10 SMART
Blast:CA 2868 2957 4e-51 BLAST
transmembrane domain 3068 3090 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105462
SMART Domains Protein: ENSMUSP00000101102
Gene: ENSMUSG00000012819

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 55 130 5.15e-13 SMART
CA 154 234 3.19e-18 SMART
CA 261 349 2.03e-11 SMART
CA 374 461 8.11e-11 SMART
CA 485 562 1.04e-22 SMART
CA 586 672 3.55e-25 SMART
CA 696 779 2.04e-25 SMART
CA 803 891 5.03e-16 SMART
CA 915 996 1.05e-27 SMART
CA 1020 1103 1.99e-19 SMART
CA 1127 1209 6.94e-19 SMART
CA 1234 1314 1.99e-19 SMART
CA 1338 1418 1.21e-18 SMART
CA 1443 1527 2.38e-26 SMART
CA 1552 1634 6.27e-26 SMART
CA 1659 1744 6.99e-24 SMART
CA 1768 1851 3.49e-24 SMART
CA 1875 1959 2.78e-18 SMART
CA 1987 2069 5.6e-14 SMART
CA 2093 2174 2.59e-27 SMART
CA 2198 2293 2.87e-11 SMART
CA 2320 2402 1.01e-20 SMART
CA 2426 2509 1.09e-25 SMART
CA 2533 2611 7.91e-23 SMART
CA 2637 2722 1.06e-23 SMART
CA 2753 2846 2e-10 SMART
Blast:CA 2870 2959 4e-51 BLAST
transmembrane domain 3070 3092 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105463
SMART Domains Protein: ENSMUSP00000101103
Gene: ENSMUSG00000012819

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 55 130 5.15e-13 SMART
CA 154 234 3.19e-18 SMART
CA 258 346 2.03e-11 SMART
CA 371 458 1.25e-11 SMART
CA 482 559 1.04e-22 SMART
CA 583 669 3.55e-25 SMART
CA 693 776 2.04e-25 SMART
CA 800 888 5.03e-16 SMART
CA 912 993 1.05e-27 SMART
CA 1017 1100 1.99e-19 SMART
CA 1124 1206 6.94e-19 SMART
CA 1231 1311 1.99e-19 SMART
CA 1335 1416 5.26e-19 SMART
CA 1441 1525 2.38e-26 SMART
CA 1550 1632 6.27e-26 SMART
CA 1657 1742 6.99e-24 SMART
CA 1766 1849 3.49e-24 SMART
CA 1873 1957 2.78e-18 SMART
CA 1985 2067 5.6e-14 SMART
CA 2091 2172 2.59e-27 SMART
CA 2196 2291 2.87e-11 SMART
CA 2318 2400 1.01e-20 SMART
CA 2424 2507 1.09e-25 SMART
CA 2531 2609 7.91e-23 SMART
CA 2635 2720 1.06e-23 SMART
CA 2751 2844 2e-10 SMART
Blast:CA 2868 2957 4e-51 BLAST
transmembrane domain 3068 3090 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105464
SMART Domains Protein: ENSMUSP00000101104
Gene: ENSMUSG00000012819

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 55 130 5.15e-13 SMART
CA 154 234 3.19e-18 SMART
CA 258 346 2.03e-11 SMART
CA 371 456 3.58e-12 SMART
CA 480 557 1.04e-22 SMART
CA 581 667 3.55e-25 SMART
CA 691 774 2.04e-25 SMART
CA 798 886 5.03e-16 SMART
CA 910 991 1.05e-27 SMART
CA 1015 1098 1.99e-19 SMART
CA 1122 1204 6.94e-19 SMART
CA 1229 1309 1.99e-19 SMART
CA 1333 1414 5.26e-19 SMART
CA 1439 1523 2.38e-26 SMART
CA 1548 1630 6.27e-26 SMART
CA 1655 1740 6.99e-24 SMART
CA 1764 1847 3.49e-24 SMART
CA 1871 1955 2.78e-18 SMART
CA 1983 2065 5.6e-14 SMART
CA 2089 2170 2.59e-27 SMART
CA 2194 2289 2.87e-11 SMART
CA 2316 2398 1.01e-20 SMART
CA 2422 2505 1.09e-25 SMART
CA 2529 2607 7.91e-23 SMART
CA 2633 2718 1.06e-23 SMART
CA 2749 2842 2e-10 SMART
Blast:CA 2866 2955 3e-51 BLAST
transmembrane domain 3066 3088 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105465
AA Change: C314S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101105
Gene: ENSMUSG00000004207
AA Change: C314S

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 damaging
Transcript: ENSMUST00000165878
AA Change: C311S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126407
Gene: ENSMUSG00000004207
AA Change: C311S

DomainStartEndE-ValueType
SAPA 18 51 1.4e-18 SMART
SapB 58 135 1.87e-27 SMART
SapB 192 267 2.76e-16 SMART
SapB 309 384 2.07e-20 SMART
low complexity region 407 425 N/A INTRINSIC
SapB 434 509 3.84e-24 SMART
SAPA 518 551 3.19e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177779
AA Change: C317S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137286
Gene: ENSMUSG00000004207
AA Change: C317S

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 damaging
Transcript: ENSMUST00000179238
AA Change: C317S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137476
Gene: ENSMUSG00000004207
AA Change: C317S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,392,490 (GRCm39) I275N probably damaging Het
Actr3b A C 5: 26,003,461 (GRCm39) Y21S probably damaging Het
Adam6b C T 12: 113,453,662 (GRCm39) Q160* probably null Het
Adgrv1 C T 13: 81,670,223 (GRCm39) probably null Het
Akr1c6 A G 13: 4,504,514 (GRCm39) N300D probably benign Het
Alox8 T C 11: 69,082,416 (GRCm39) D170G possibly damaging Het
Amhr2 A G 15: 102,354,768 (GRCm39) N40S probably benign Het
Ap2a2 A G 7: 141,209,109 (GRCm39) N767S probably benign Het
Armc3 T C 2: 19,274,839 (GRCm39) I358T probably damaging Het
Atg2b A G 12: 105,620,508 (GRCm39) S732P probably benign Het
Atp12a A G 14: 56,610,837 (GRCm39) Y327C possibly damaging Het
Bcr T C 10: 74,897,393 (GRCm39) V179A probably benign Het
Cep104 T C 4: 154,078,018 (GRCm39) L642P probably benign Het
Clspn T A 4: 126,486,513 (GRCm39) S1302R possibly damaging Het
Cmip T C 8: 118,111,727 (GRCm39) F153L probably benign Het
Cplane1 T G 15: 8,258,246 (GRCm39) L2164R probably damaging Het
D630039A03Rik T C 4: 57,910,521 (GRCm39) D97G probably damaging Het
Dok7 A T 5: 35,236,899 (GRCm39) T396S probably benign Het
Dsel C T 1: 111,788,025 (GRCm39) V837I probably benign Het
Etl4 C T 2: 20,810,695 (GRCm39) T926I probably benign Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gpr155 A G 2: 73,173,961 (GRCm39) I816T probably damaging Het
Hpn C T 7: 30,810,367 (GRCm39) probably benign Het
Inpp5e A G 2: 26,287,877 (GRCm39) S640P probably benign Het
Irs3 C T 5: 137,643,539 (GRCm39) V82I probably benign Het
Kif16b A C 2: 142,600,749 (GRCm39) D461E possibly damaging Het
Krba1 A G 6: 48,390,014 (GRCm39) T592A possibly damaging Het
Lgsn T A 1: 31,243,024 (GRCm39) S369T possibly damaging Het
Lrrc4b C T 7: 44,094,580 (GRCm39) P83S probably damaging Het
Mplkipl1 A G 19: 61,164,319 (GRCm39) S39P possibly damaging Het
Neil3 T C 8: 54,054,001 (GRCm39) T343A possibly damaging Het
Nt5e A G 9: 88,246,805 (GRCm39) Y347C probably damaging Het
Or1j1 A G 2: 36,703,047 (GRCm39) I19T possibly damaging Het
Or2d3b A T 7: 106,514,319 (GRCm39) T305S probably benign Het
Or2f2 C T 6: 42,767,399 (GRCm39) T142I probably benign Het
Or8g26 A T 9: 39,096,239 (GRCm39) Y255F probably benign Het
P2rx5 T C 11: 73,058,800 (GRCm39) probably null Het
Phtf2 A G 5: 20,999,399 (GRCm39) V248A probably benign Het
Plekhd1 T C 12: 80,768,734 (GRCm39) C406R possibly damaging Het
Plod3 T A 5: 137,018,498 (GRCm39) N245K probably damaging Het
Polr3c G T 3: 96,630,954 (GRCm39) H155Q possibly damaging Het
Rif1 A G 2: 51,967,001 (GRCm39) I97V probably benign Het
Rnf123 T A 9: 107,940,882 (GRCm39) probably null Het
Rnf19a G A 15: 36,254,650 (GRCm39) R303* probably null Het
Sdk1 G A 5: 142,082,489 (GRCm39) V1036I probably benign Het
Shc3 T A 13: 51,620,588 (GRCm39) Y146F probably benign Het
Skint6 A G 4: 112,963,109 (GRCm39) Y441H probably benign Het
Slc7a12 T C 3: 14,570,580 (GRCm39) I173T probably damaging Het
Spesp1 A T 9: 62,189,302 (GRCm39) S15T possibly damaging Het
Tarm1 A T 7: 3,545,939 (GRCm39) probably null Het
Tenm3 T C 8: 48,693,479 (GRCm39) Y1817C probably damaging Het
Ttc9c A T 19: 8,795,904 (GRCm39) L45Q probably damaging Het
Ube3a C T 7: 58,926,188 (GRCm39) T322I probably damaging Het
Vac14 T A 8: 111,439,430 (GRCm39) V669E probably damaging Het
Vmn1r225 A G 17: 20,723,416 (GRCm39) M286V probably null Het
Zfp658 A G 7: 43,224,172 (GRCm39) K816E possibly damaging Het
Zfp846 T C 9: 20,499,188 (GRCm39) M1T probably null 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
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
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'- TGCCTGCCTTCTGAATGTG -3'
(R):5'- TCCAGAGTTGGGTGCTATAGCC -3'

Sequencing Primer
(F):5'- CCTGCCTTCTGAATGTGTTTCGAG -3'
(R):5'- GTGCTATAGCCCTCCCCTAGAG -3'
Posted On 2019-05-13