Mutagenetix > Incidental Mutations

Incidental Mutation 'R0138:Psapl1'

22095

Institutional Source

Beutler Lab

Gene Symbol

Psapl1

Ensembl Gene

ENSMUSG00000043430

Gene Name

prosaposin-like 1

Synonyms

2310020A21Rik

MMRRC Submission

038423-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0138 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

36204021-36206568 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36204631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 189 (V189E)

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: V189E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100594
Gene: ENSMUSG00000043430
AA Change: V189E

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

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,105,449	N693K	probably damaging	Het
Adgrl3	T	A	5: 81,693,607	V845D	probably damaging	Het
Anxa8	T	A	14: 34,097,939	F269Y	probably benign	Het
Anxa8	T	A	14: 34,097,940	F295L	possibly damaging	Het
Aox4	C	G	1: 58,228,866	L202V	probably damaging	Het
Ap3s2	A	G	7: 79,909,869	V104A	probably benign	Het
Aqp3	G	A	4: 41,094,843		probably benign	Het
Arhgef26	C	T	3: 62,448,259	H751Y	probably benign	Het
Asic4	A	T	1: 75,469,687	Q291L	possibly damaging	Het
Bap1	T	C	14: 31,256,724	Y31H	probably damaging	Het
Brf1	A	T	12: 112,961,139	V655D	probably damaging	Het
Cebpz	A	G	17: 78,931,391	S663P	probably benign	Het
Ces2h	A	G	8: 105,018,061	D357G	probably benign	Het
Cfap36	T	C	11: 29,244,073	T90A	probably benign	Het
Ciita	A	T	16: 10,512,270	D803V	probably damaging	Het
Clnk	C	A	5: 38,774,608		probably benign	Het
Cyp46a1	A	G	12: 108,351,211	N158S	probably damaging	Het
Cyp4f13	A	G	17: 32,941,106	I98T	possibly damaging	Het
Def8	G	A	8: 123,456,495	A278T	probably damaging	Het
Dll3	T	A	7: 28,301,321	D103V	possibly damaging	Het
Dnaic1	T	A	4: 41,629,814	M446K	possibly damaging	Het
Dppa4	A	T	16: 48,291,062	T85S	probably benign	Het
Eif4g1	A	T	16: 20,675,345	H57L	probably damaging	Het
Fmnl3	G	C	15: 99,322,738		probably benign	Het
Fn1	T	A	1: 71,624,110	Q1073L	possibly damaging	Het
Foxp4	T	C	17: 47,869,179	D599G	unknown	Het
Frrs1	T	C	3: 116,881,807	V128A	possibly damaging	Het
Gcfc2	G	A	6: 81,949,954	D608N	probably damaging	Het
Gm1043	T	C	5: 37,192,973		probably benign	Het
Gm5148	T	C	3: 37,714,777	E98G	probably benign	Het
Gpr141	T	C	13: 19,752,258	I116V	probably benign	Het
Hic1	T	C	11: 75,167,343	N240S	probably damaging	Het
Hpx	G	A	7: 105,592,238	T322I	probably damaging	Het
Hs3st4	A	T	7: 124,397,193	M361L	probably benign	Het
Ifrd1	A	G	12: 40,207,130		probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Klk1b21	T	A	7: 44,105,895	C173S	probably damaging	Het
Krt25	A	T	11: 99,322,698	V65E	probably benign	Het
Lrrc15	A	T	16: 30,273,449	D357E	possibly damaging	Het
Lrrd1	T	A	5: 3,851,345	V550E	probably benign	Het
Macf1	A	G	4: 123,440,747	Y1490H	probably damaging	Het
Macrod1	A	G	19: 7,196,916		probably benign	Het
Mcm5	T	A	8: 75,120,880	V435D	probably damaging	Het
Mctp1	C	T	13: 76,827,712	R478C	probably damaging	Het
Med10	T	C	13: 69,811,698		probably benign	Het
Mrpl4	T	C	9: 21,008,592	Y280H	probably benign	Het
Msrb3	T	C	10: 120,851,987	E61G	probably damaging	Het
Myo1c	T	C	11: 75,661,001	Y337H	possibly damaging	Het
Myo7b	T	A	18: 32,010,151	T165S	probably damaging	Het
Myrfl	T	A	10: 116,849,233	R81W	probably damaging	Het
Neil1	T	C	9: 57,143,746		probably benign	Het
Neto2	A	G	8: 85,641,044	I357T	possibly damaging	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nkx6-3	T	C	8: 23,153,591	S3P	probably benign	Het
Olfr652	A	T	7: 104,565,003	I261L	probably benign	Het
Plce1	T	C	19: 38,524,419	I54T	possibly damaging	Het
Prex2	A	T	1: 11,285,043		probably benign	Het
Ptdss2	T	G	7: 141,155,319		probably benign	Het
Rnf213	T	C	11: 119,416,496	C661R	probably benign	Het
Rpap1	T	C	2: 119,764,899		probably null	Het
Rrp1b	A	G	17: 32,060,452	T696A	probably benign	Het
Sacm1l	T	A	9: 123,548,917	H87Q	probably benign	Het
Serpinb11	T	A	1: 107,377,530	M212K	probably damaging	Het
Tbc1d22a	C	A	15: 86,299,684	T248K	probably damaging	Het
Tcerg1	C	T	18: 42,568,614		probably benign	Het
Tpst1	T	A	5: 130,101,786	H32Q	probably damaging	Het
Tsc2	A	T	17: 24,599,626	V1412E	possibly damaging	Het
Usp19	C	A	9: 108,501,315	P1326Q	possibly damaging	Het
Vmn1r235	T	A	17: 21,262,334	M307K	probably damaging	Het
Vmn2r58	T	A	7: 41,837,624	T616S	probably damaging	Het
Vps13a	G	A	19: 16,660,499	T2406I	possibly damaging	Het
Zbtb26	T	A	2: 37,436,041	M328L	probably benign	Het
Zp2	A	G	7: 120,137,200	F340S	probably damaging	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
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
R4792:Psapl1	UTSW	5	36205203	missense	probably benign
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
R8112:Psapl1	UTSW	5	36205575	missense	probably benign
R8852:Psapl1	UTSW	5	36204970	missense	probably damaging	1.00
R9169:Psapl1	UTSW	5	36205536	missense	possibly damaging	0.48
Z1176:Psapl1	UTSW	5	36205164	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAGGAGTCTTCAGCTAAGTGCAAG -3'
(R):5'- CAACTGCATCTGCAACTCATTCGTC -3'

Sequencing Primer
(F):5'- CTTCAGCTAAGTGCAAGTGGATG -3'
(R):5'- ATCTCCATCTCCAGAGAGGG -3'

Posted On

2013-04-12