Mutagenetix > Incidental Mutation

Incidental Mutation 'R8852:Psapl1'

675050

Institutional Source

Beutler Lab

Gene Symbol

Psapl1

Ensembl Gene

ENSMUSG00000043430

Gene Name

prosaposin-like 1

Synonyms

2310020A21Rik

MMRRC Submission

068674-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8852 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36361365-36363912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36362314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 302 (L302S)

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

Domain	Start	End	E-Value	Type
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: L302S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100594
Gene: ENSMUSG00000043430
AA Change: L302S

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
SCOP:d1eur__	1	111	2e-3	SMART
Blast:VPS10	1	173	1e-126	BLAST
PDB:4N7E\|A	6	117	1e-8	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (53/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,231,197 (GRCm39)	V985G	possibly damaging	Het
Acr	T	G	15: 89,458,057 (GRCm39)	M246R	probably damaging	Het
Adgrf5	G	T	17: 43,763,989 (GRCm39)	V1304L	possibly damaging	Het
Ago4	A	T	4: 126,387,043 (GRCm39)	D853E	probably benign	Het
Arvcf	C	A	16: 18,222,203 (GRCm39)	D790E	probably benign	Het
Atp8a2	A	C	14: 60,162,545 (GRCm39)	D725E	probably damaging	Het
C2cd5	A	G	6: 143,028,946 (GRCm39)	Y98H	probably benign	Het
Camkk2	T	C	5: 122,891,820 (GRCm39)	Y234C	probably damaging	Het
Ccdc106	A	G	7: 5,062,570 (GRCm39)	D192G	probably benign	Het
Ccm2l	T	C	2: 152,916,788 (GRCm39)	Y340H	probably damaging	Het
Chd1l	A	G	3: 97,477,685 (GRCm39)	F690S	probably benign	Het
Chuk	A	G	19: 44,076,407 (GRCm39)	S435P	possibly damaging	Het
Cisd3	T	A	11: 97,576,703 (GRCm39)	S10T	probably benign	Het
Cnppd1	A	G	1: 75,113,063 (GRCm39)	S402P	probably damaging	Het
Cped1	A	G	6: 22,215,620 (GRCm39)	D718G	probably damaging	Het
Crtc1	A	G	8: 70,840,805 (GRCm39)	S474P	probably damaging	Het
Dcpp3	G	T	17: 24,138,123 (GRCm39)	E94*	probably null	Het
Dhx38	A	T	8: 110,289,361 (GRCm39)	L13*	probably null	Het
Dmbt1	T	C	7: 130,642,853 (GRCm39)	Y120H	unknown	Het
Fntb	T	A	12: 76,934,826 (GRCm39)	V201E	possibly damaging	Het
Gga3	T	C	11: 115,481,244 (GRCm39)	D242G	probably benign	Het
Gsx2	T	C	5: 75,236,996 (GRCm39)	M192T	possibly damaging	Het
Hif3a	A	T	7: 16,774,912 (GRCm39)	M562K	probably benign	Het
Irf5	G	A	6: 29,535,997 (GRCm39)	R337H	probably damaging	Het
Kcnmb3	A	G	3: 32,526,624 (GRCm39)	V189A	possibly damaging	Het
Letmd1	A	G	15: 100,373,247 (GRCm39)	T241A	probably benign	Het
Lrrc14b	T	A	13: 74,509,408 (GRCm39)	D333V	probably damaging	Het
Meaf6	T	A	4: 124,979,990 (GRCm39)	L48Q	probably damaging	Het
Miip	T	A	4: 147,950,839 (GRCm39)		probably benign	Het
Muc4	A	G	16: 32,569,461 (GRCm39)	T236A	possibly damaging	Het
Myh4	T	A	11: 67,132,335 (GRCm39)	I155N	probably damaging	Het
Obscn	C	T	11: 58,898,440 (GRCm39)	R6607Q	unknown	Het
Or2ak7	C	T	11: 58,574,966 (GRCm39)	T89I	probably benign	Het
Or5v1	G	A	17: 37,810,321 (GRCm39)	V260M	probably benign	Het
Otof	T	C	5: 30,529,044 (GRCm39)	N1788S	possibly damaging	Het
Rdh8	A	C	9: 20,734,021 (GRCm39)	N69T	probably benign	Het
Ryr3	T	C	2: 112,624,844 (GRCm39)	E2212G	probably damaging	Het
Septin7	A	T	9: 25,163,980 (GRCm39)	N16Y	possibly damaging	Het
Slc22a17	A	T	14: 55,146,436 (GRCm39)	L60Q	probably damaging	Het
Snrnp200	T	C	2: 127,060,349 (GRCm39)	I531T	probably damaging	Het
Ssh3	A	T	19: 4,317,992 (GRCm39)	V41E	probably damaging	Het
Tars1	G	T	15: 11,393,348 (GRCm39)	N115K	probably benign	Het
Tomm6	G	C	17: 47,998,850 (GRCm39)	F34L	possibly damaging	Het
Txnrd2	G	A	16: 18,259,601 (GRCm39)	V173M	possibly damaging	Het
Uba6	T	A	5: 86,289,454 (GRCm39)	I450F	possibly damaging	Het
Vmn2r95	G	T	17: 18,664,113 (GRCm39)	S516I	possibly damaging	Het
Vps4b	A	G	1: 106,710,414 (GRCm39)	F156L	possibly damaging	Het
Zfp354c	T	A	11: 50,706,019 (GRCm39)	H352L	probably damaging	Het
Zfp521	T	C	18: 14,072,150 (GRCm39)	D30G	probably benign	Het
Zic2	A	T	14: 122,713,530 (GRCm39)	H148L	possibly damaging	Het

Other mutations in Psapl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5101:Psapl1	UTSW	5	36,361,494 (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
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'- TACATCCACCGGCAGTTTGTC -3'
(R):5'- GTCTCACATACTTTCTCTGGGG -3'

Sequencing Primer
(F):5'- TGTCCCTGCTAAGCAAACATTG -3'
(R):5'- GTGACTTTGGACATGAGCTGCAC -3'

Posted On

2021-07-15