Mutagenetix > Incidental Mutations

Incidental Mutation 'R4792:Psapl1'

368658

Institutional Source

Beutler Lab

Gene Symbol

Psapl1

Ensembl Gene

ENSMUSG00000043430

Gene Name

prosaposin-like 1

Synonyms

2310020A21Rik

MMRRC Submission

042419-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4792 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36204021-36206568 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36205203 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 380 (S380P)

Ref Sequence

ENSEMBL: ENSMUSP00000100594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037370] [ENSMUST00000052224] [ENSMUST00000070720] [ENSMUST00000135324]

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 benign
Transcript: ENSMUST00000052224
AA Change: S380P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100594
Gene: ENSMUSG00000043430
AA Change: S380P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141508

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (89/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016G14Rik	A	G	13: 24,746,507		probably benign	Het
2310061N02Rik	A	G	16: 88,707,763	S49P	possibly damaging	Het
Abcb1a	T	C	5: 8,746,657		probably null	Het
Adgb	G	A	10: 10,398,903	T770I	probably damaging	Het
Adgre4	A	T	17: 55,791,491	T134S	probably benign	Het
Aldh1a1	A	G	19: 20,619,985	N110S	probably damaging	Het
Alox5	C	A	6: 116,461,003	V8L	possibly damaging	Het
Ambra1	A	G	2: 91,772,846	T392A	possibly damaging	Het
Apob	A	G	12: 8,008,051	I2145V	probably benign	Het
Arhgap39	A	G	15: 76,741,517	Y196H	possibly damaging	Het
Carmil1	A	G	13: 24,067,190	L439S	probably damaging	Het
Carmil1	A	T	13: 24,141,676	S224T	possibly damaging	Het
Cfh	G	A	1: 140,100,823	Q706*	probably null	Het
Chd2	A	C	7: 73,468,577	S1098A	probably benign	Het
Chrna5	A	T	9: 55,004,701	I158F	probably damaging	Het
Col6a5	T	C	9: 105,930,784	T1022A	unknown	Het
Cul7	T	A	17: 46,657,050	Y423*	probably null	Het
Cyp2e1	T	C	7: 140,773,675	Y342H	probably benign	Het
D630045J12Rik	T	C	6: 38,148,340	K1580E	probably damaging	Het
Dnah6	A	G	6: 73,089,668	M2573T	probably damaging	Het
Edem1	T	A	6: 108,828,746		probably benign	Het
Erp29	C	T	5: 121,447,174	E86K	probably benign	Het
Esrp2	C	A	8: 106,132,509	R535L	probably damaging	Het
Gabrb2	C	T	11: 42,529,503		probably benign	Het
Gpat3	C	T	5: 100,857,173	P58L	probably benign	Het
Herc1	T	A	9: 66,495,984	V4395E	possibly damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmgb2	G	A	8: 57,513,310	C106Y	probably damaging	Het
Hoxa10	T	C	6: 52,232,501		probably benign	Het
Hsd3b1	T	A	3: 98,852,910	Y255F	probably benign	Het
Ick	A	G	9: 78,153,693	D207G	probably damaging	Het
Ighd	T	C	12: 113,416,199	K42E	probably benign	Het
Ighv1-26	T	C	12: 114,788,571	Y51C	possibly damaging	Het
Ighv5-2	C	T	12: 113,578,799	E19K	possibly damaging	Het
Ipo11	T	C	13: 106,834,160		probably benign	Het
Itk	C	T	11: 46,344,831		probably benign	Het
Kat6a	T	A	8: 22,940,576	H1982Q	unknown	Het
Kdm4d	C	T	9: 14,463,390	V391I	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lgr6	T	A	1: 135,021,806	S229C	probably benign	Het
Lhx9	T	A	1: 138,838,351	Y233F	possibly damaging	Het
Lmf1	G	A	17: 25,654,471	V317M	probably damaging	Het
Mapk4	T	C	18: 73,937,250	T191A	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Naglu	C	T	11: 101,071,106	T135M	probably damaging	Het
Nomo1	T	A	7: 46,044,219		probably null	Het
Nop56	T	A	2: 130,277,864	V75E	possibly damaging	Het
Nr1i3	G	A	1: 171,218,595	C283Y	probably damaging	Het
Olfr1269	T	A	2: 90,118,830	Y256F	possibly damaging	Het
Olfr557	G	A	7: 102,698,726	G163R	probably damaging	Het
Olfr768	T	G	10: 129,093,620	Y118S	probably damaging	Het
Pcdhga2	A	G	18: 37,669,399	S99G	probably benign	Het
Pcnx	T	A	12: 81,919,151	D697E	probably damaging	Het
Plxnb1	G	A	9: 109,110,648	D1462N	probably damaging	Het
Pnn	G	T	12: 59,072,205	V525F	possibly damaging	Het
Prrc2a	A	T	17: 35,156,487	D1062E	probably damaging	Het
Prss35	T	A	9: 86,755,669	V164E	probably damaging	Het
Rnf222	A	T	11: 68,893,019	E137D	probably damaging	Het
Rsph10b	A	G	5: 143,937,317	T79A	probably damaging	Het
Sbf2	T	C	7: 110,351,610	Q1164R	probably damaging	Het
Scn7a	T	C	2: 66,726,248	D331G	probably damaging	Het
Shtn1	G	C	19: 59,050,873	R45G	probably damaging	Het
Sspo	G	A	6: 48,461,585	S1529N	probably benign	Het
St8sia3	T	A	18: 64,265,563	V31E	probably benign	Het
Sult1b1	A	T	5: 87,515,047	W265R	probably damaging	Het
Supt5	G	T	7: 28,316,329	Q863K	probably benign	Het
Tbc1d31	A	G	15: 57,940,728	R380G	probably benign	Het
Tdpoz1	T	A	3: 93,670,538	D313V	possibly damaging	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,511,994		probably benign	Het
Tpx2	A	T	2: 152,885,096	T428S	probably damaging	Het
Trip11	A	T	12: 101,885,446	H786Q	probably benign	Het
Trpc6	A	T	9: 8,626,614	M322L	probably benign	Het
Try10	T	C	6: 41,355,452	V14A	probably benign	Het
Unc13d	A	T	11: 116,070,282	F416L	probably damaging	Het
Vmn2r75	A	T	7: 86,163,170	M547K	possibly damaging	Het
Wdr78	T	C	4: 103,072,684	K370R	possibly damaging	Het
Zbp1	A	G	2: 173,209,213	F288S	probably damaging	Het
Zc3h11a	T	A	1: 133,640,698	Q71L	probably damaging	Het
Zfp40	G	A	17: 23,177,034	T193I	possibly damaging	Het
Zfp607a	T	C	7: 27,878,653	Y383H	probably benign	Het
Zfp622	T	A	15: 25,987,042	Y82*	probably null	Het
Zfp964	T	C	8: 69,664,015	F422L	probably benign	Het

Other mutations in Psapl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Psapl1	APN	5	36205631	missense	probably benign
IGL01873:Psapl1	APN	5	36205225	missense	possibly damaging	0.66
IGL02590:Psapl1	APN	5	36205053	missense	probably benign
IGL02931:Psapl1	APN	5	36204889	missense	probably damaging	1.00
R0138:Psapl1	UTSW	5	36204631	missense	probably damaging	0.98
R0570:Psapl1	UTSW	5	36204280	missense	possibly damaging	0.89
R1313:Psapl1	UTSW	5	36205266	missense	probably benign	0.01
R1313:Psapl1	UTSW	5	36205266	missense	probably benign	0.01
R2207:Psapl1	UTSW	5	36205165	missense	probably damaging	1.00
R2247:Psapl1	UTSW	5	36205066	missense	probably benign	0.01
R4865:Psapl1	UTSW	5	36204867	missense	probably damaging	1.00
R5101:Psapl1	UTSW	5	36204150	missense	probably damaging	1.00
R5947:Psapl1	UTSW	5	36204307	missense	probably benign	0.08
R6015:Psapl1	UTSW	5	36204250	missense	probably benign	0.00
R6751:Psapl1	UTSW	5	36204959	nonsense	probably null
R7260:Psapl1	UTSW	5	36205212	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTGGCTTGTGACCAACAGC -3'
(R):5'- GTTGCACTGCATCACATAAGGC -3'

Sequencing Primer
(F):5'- GCTTGTGACCAACAGCACAGAAG -3'
(R):5'- TGCATCACATAAGGCAACGG -3'

Posted On

2016-02-04