Mutagenetix > Incidental Mutation

Incidental Mutation 'R9756:Psap'

732746

Institutional Source

Beutler Lab

Gene Symbol

Psap

Ensembl Gene

ENSMUSG00000004207

Gene Name

prosaposin

Synonyms

SGP-1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9756 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60113449-60138376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60130784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 205 (S205P)

Ref Sequence

ENSEMBL: ENSMUSP00000101105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004316] [ENSMUST00000105465] [ENSMUST00000165878] [ENSMUST00000177779] [ENSMUST00000179238]

AlphaFold

Q61207

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004316
AA Change: S205P

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000004316
Gene: ENSMUSG00000004207
AA Change: S205P

Domain	Start	End	E-Value	Type
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: S205P

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101105
Gene: ENSMUSG00000004207
AA Change: S205P

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000165878
AA Change: S202P

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126407
Gene: ENSMUSG00000004207
AA Change: S202P

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000177779
AA Change: S205P

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137286
Gene: ENSMUSG00000004207
AA Change: S205P

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000179238
AA Change: S205P

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137476
Gene: ENSMUSG00000004207
AA Change: S205P

Domain	Start	End	E-Value	Type
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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,421,906 (GRCm39)	Y94F	possibly damaging	Het
Abcb5	A	G	12: 118,881,873 (GRCm39)	S619P	probably damaging	Het
Adgrf5	A	G	17: 43,761,137 (GRCm39)	N944S	probably benign	Het
Ano1	T	A	7: 144,162,666 (GRCm39)	M689L	probably benign	Het
Antxr1	T	A	6: 87,217,936 (GRCm39)	H314L	probably benign	Het
Atp13a5	CA	C	16: 29,051,583 (GRCm39)		probably null	Het
Blmh	T	A	11: 76,859,509 (GRCm39)	M370K	probably damaging	Het
Cdh8	G	A	8: 99,759,976 (GRCm39)	T591M	probably damaging	Het
Cep290	G	A	10: 100,352,034 (GRCm39)	E747K	probably damaging	Het
Chd6	T	C	2: 160,802,259 (GRCm39)	S2192G	probably benign	Het
Cldn8	T	G	16: 88,359,917 (GRCm39)	T3P	probably benign	Het
Crtac1	A	G	19: 42,286,780 (GRCm39)	L421P	probably damaging	Het
Ddx59	G	T	1: 136,345,069 (GRCm39)	A247S	probably damaging	Het
Defa38	C	T	8: 21,585,943 (GRCm39)	V42I	possibly damaging	Het
Dennd5a	A	G	7: 109,496,174 (GRCm39)	V1164A	possibly damaging	Het
Dnhd1	A	T	7: 105,353,135 (GRCm39)	T2763S	probably benign	Het
Evpl	T	C	11: 116,112,077 (GRCm39)	D1871G	probably damaging	Het
Fat1	T	A	8: 45,496,974 (GRCm39)	I4153N	probably damaging	Het
Fbxl17	A	G	17: 63,367,310 (GRCm39)	Y688H	probably damaging	Het
Fntb	A	G	12: 76,966,938 (GRCm39)	E424G	probably benign	Het
Gabra4	A	G	5: 71,729,067 (GRCm39)	M571T	probably damaging	Het
Hoxb5	T	C	11: 96,194,449 (GRCm39)	Y4H	probably damaging	Het
Htr1a	T	C	13: 105,581,450 (GRCm39)	V230A	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv3-4	T	C	12: 114,217,448 (GRCm39)	T48A	probably damaging	Het
Il15ra	A	G	2: 11,728,259 (GRCm39)	M53V	probably benign	Het
Ipo9	A	C	1: 135,314,057 (GRCm39)	D945E	probably benign	Het
Klk1b22	A	T	7: 43,765,254 (GRCm39)		probably null	Het
Klkb1	T	C	8: 45,735,811 (GRCm39)	N184S	possibly damaging	Het
Lbhd2	G	A	12: 111,376,774 (GRCm39)	A74T	probably damaging	Het
Lpcat3	A	G	6: 124,679,967 (GRCm39)		probably null	Het
Luzp1	T	C	4: 136,270,048 (GRCm39)	I757T	probably damaging	Het
Mbd5	C	A	2: 49,169,283 (GRCm39)	P1485T	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mical2	C	T	7: 111,902,928 (GRCm39)	T133I	probably damaging	Het
Mylk	T	C	16: 34,734,387 (GRCm39)	S663P	probably damaging	Het
Or2ag13	A	T	7: 106,313,002 (GRCm39)	N295K	probably benign	Het
Or2j3	A	G	17: 38,615,971 (GRCm39)	V127A	probably benign	Het
Or4x11	A	T	2: 89,867,674 (GRCm39)	N137I	probably benign	Het
Or5ak22	T	A	2: 85,230,682 (GRCm39)	H65L	probably damaging	Het
Or5b119	G	A	19: 13,456,986 (GRCm39)	T192I	probably benign	Het
Or8b12	G	A	9: 37,658,314 (GRCm39)	D295N	possibly damaging	Het
Patj	G	T	4: 98,565,535 (GRCm39)	A1656S	probably benign	Het
Peg10	GC	GCGCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigz	G	T	16: 31,763,787 (GRCm39)	G282C	probably damaging	Het
Pomk	G	A	8: 26,472,918 (GRCm39)	T345M	possibly damaging	Het
Ptpn6	A	T	6: 124,705,592 (GRCm39)	F186L	probably damaging	Het
Rnase2b	T	C	14: 51,400,302 (GRCm39)	S128P	probably damaging	Het
Rnf112	C	T	11: 61,340,667 (GRCm39)	V536I	probably damaging	Het
Rnf31	A	T	14: 55,836,582 (GRCm39)	E805D	probably damaging	Het
Rps6kc1	A	T	1: 190,604,021 (GRCm39)	D200E	probably benign	Het
Rufy2	T	C	10: 62,818,519 (GRCm39)	L25P	probably damaging	Het
Sec14l2	T	A	11: 4,053,978 (GRCm39)	K230*	probably null	Het
Senp1	A	G	15: 97,957,806 (GRCm39)	I364T	possibly damaging	Het
Sod1	T	A	16: 90,017,753 (GRCm39)	M3K	probably benign	Het
Stab2	T	C	10: 86,803,553 (GRCm39)	D332G	possibly damaging	Het
Tcf4	G	T	18: 69,790,830 (GRCm39)	E408*	probably null	Het
Tdrd1	T	C	19: 56,831,662 (GRCm39)	M351T	probably benign	Het
Tmem39a	T	C	16: 38,396,126 (GRCm39)	Y120H	probably benign	Het
Trav16	C	A	14: 53,980,886 (GRCm39)	T25K	possibly damaging	Het
Unc13c	T	A	9: 73,839,526 (GRCm39)	N442Y	probably benign	Het
Vmn2r71	A	T	7: 85,268,573 (GRCm39)	K259*	probably null	Het
Yipf1	T	C	4: 107,176,247 (GRCm39)	V47A	probably benign	Het
Zeb2	T	C	2: 44,887,414 (GRCm39)	T548A	possibly damaging	Het
Zmym4	A	G	4: 126,771,502 (GRCm39)	F1291L	probably damaging	Het

Other mutations in Psap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
X0019:Psap	UTSW	10	60,135,694 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGTACTTTGGCCTGAGTGAATG -3'
(R):5'- TCTAGGTCTCACTAAACGCACC -3'

Sequencing Primer
(F):5'- TGGCCATGGGTTAAAAGCCTG -3'
(R):5'- CCACTGGGAAGGTAGCACTAC -3'

Posted On

2022-11-14