Mutagenetix > Incidental Mutations

Incidental Mutation 'R0799:Sppl2a'

76508

Institutional Source

Beutler Lab

Gene Symbol

Sppl2a

Ensembl Gene

ENSMUSG00000027366

Gene Name

signal peptide peptidase like 2A

Synonyms

C130089K23Rik, 2010106G01Rik

MMRRC Submission

038979-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126890391-126933235 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 126920307 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028844]

Predicted Effect

probably benign
Transcript: ENSMUST00000028844

SMART Domains

Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:PA	58	153	1.7e-12	PFAM
transmembrane domain	173	195	N/A	INTRINSIC
PSN	218	486	3.65e-102	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125592

Predicted Effect

probably benign
Transcript: ENSMUST00000143700

SMART Domains

Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366

Domain	Start	End	E-Value	Type
PSN	3	233	1.27e-60	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased immunoglobulin prior to and after immunization and decreased splenic B cells, myeloid dendritic cells, T2 B cells and follicular B cells. Mice homozygous for a hypomorphic allele exhibit similar albeit less severe phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	G	6: 40,928,599	M41T	probably damaging	Het
4921539E11Rik	G	A	4: 103,242,904	T33I	possibly damaging	Het
4930555F03Rik	A	G	8: 49,495,439		noncoding transcript	Het
Abcf3	T	C	16: 20,559,334	L538P	probably damaging	Het
Adamts6	T	C	13: 104,314,271	S321P	probably damaging	Het
Adgra2	G	A	8: 27,112,495	R362H	probably damaging	Het
AI597479	T	G	1: 43,111,170	S147A	probably benign	Het
Ampd3	T	C	7: 110,800,697	F340L	probably damaging	Het
Arntl2	T	C	6: 146,823,253		probably benign	Het
Atad3a	A	G	4: 155,747,470	V449A	probably damaging	Het
Bpifa6	A	T	2: 153,992,272	D328V	probably benign	Het
Brca2	T	C	5: 150,560,193	S2903P	probably damaging	Het
Cct3	A	T	3: 88,299,345		probably null	Het
Cdk4	A	G	10: 127,064,994	T172A	probably damaging	Het
Chd5	A	G	4: 152,384,159	D1760G	probably damaging	Het
Chd7	A	G	4: 8,801,310		probably benign	Het
Crybb2	T	C	5: 113,062,171	I109V	probably benign	Het
Csmd3	A	G	15: 48,185,384		probably benign	Het
Dach1	G	T	14: 98,168,615	T232K	possibly damaging	Het
Dnlz	A	G	2: 26,351,473	V81A	possibly damaging	Het
Epb41l4b	A	G	4: 57,086,003	S191P	probably damaging	Het
Eps15l1	C	T	8: 72,346,085	D821N	probably damaging	Het
Fam186a	G	A	15: 99,942,012	P2117L	probably damaging	Het
Fam83d	T	A	2: 158,779,888	F173Y	probably damaging	Het
Gm9116	A	T	3: 93,910,465	R214S	probably benign	Het
Gm996	A	G	2: 25,578,562	S446P	possibly damaging	Het
Gtpbp1	A	G	15: 79,716,200	I445V	probably damaging	Het
H2-M2	G	A	17: 37,482,749	T122I	probably damaging	Het
Hgd	C	T	16: 37,628,609		probably benign	Het
Hip1r	A	G	5: 123,996,941	Y380C	probably benign	Het
Hspa8	G	A	9: 40,803,841	G389R	probably damaging	Het
Htt	C	A	5: 34,817,753	D622E	probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kdm4a	A	G	4: 118,146,992		probably null	Het
Map3k9	G	A	12: 81,722,269	P1025S	probably benign	Het
Olfr911-ps1	G	A	9: 38,524,141	M136I	probably benign	Het
Pabpc1l	C	A	2: 164,031,214	H135N	probably benign	Het
Pacsin2	A	T	15: 83,379,797	S346R	probably benign	Het
Pcdhb20	A	G	18: 37,505,885	Y488C	probably damaging	Het
Pkdcc	G	A	17: 83,223,918	C452Y	probably damaging	Het
Poglut1	T	C	16: 38,534,721		probably null	Het
Pxk	T	C	14: 8,148,123	F409L	probably benign	Het
Pygm	G	A	19: 6,386,018		probably benign	Het
Rabep2	T	C	7: 126,438,724	S223P	probably damaging	Het
Rpp40	C	T	13: 35,902,051	R109H	probably benign	Het
Sbf2	T	C	7: 110,341,355	Y1266C	possibly damaging	Het
Slc5a4a	T	C	10: 76,176,534	V346A	probably benign	Het
Smpd3	G	T	8: 106,264,789	H377Q	possibly damaging	Het
Tas2r134	T	C	2: 51,628,373	I288T	probably benign	Het
Trim35	T	A	14: 66,309,201	H472Q	probably damaging	Het
Trpm5	C	A	7: 143,078,351	R907L	probably damaging	Het
Ube2e2	G	T	14: 18,630,393	S56*	probably null	Het
Vmn2r88	A	C	14: 51,414,502	R432S	possibly damaging	Het
Wdr24	A	G	17: 25,826,128	Y279C	probably damaging	Het
Wdr90	A	G	17: 25,860,130	V246A	probably benign	Het
Xrn2	T	A	2: 147,029,898	N385K	probably benign	Het
Zfp28	T	A	7: 6,384,183	S73T	possibly damaging	Het
Zfp345	T	C	2: 150,472,351	E422G	probably benign	Het
Zhx2	A	G	15: 57,821,313	E26G	probably benign	Het

Other mutations in Sppl2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Sppl2a	APN	2	126919720	missense	probably benign	0.04
IGL01471:Sppl2a	APN	2	126917867	nonsense	probably null
IGL01572:Sppl2a	APN	2	126920312	splice site	probably null
IGL01712:Sppl2a	APN	2	126904903	splice site	probably benign
IGL02203:Sppl2a	APN	2	126904941	missense	possibly damaging	0.68
IGL02572:Sppl2a	APN	2	126926296	missense	probably benign	0.07
abra	UTSW	2	126923594	missense	probably benign	0.00
abra2	UTSW	2	126920313	splice site	probably null
isaac	UTSW	2	126913575	missense	probably damaging	1.00
PIT4431001:Sppl2a	UTSW	2	126923476	missense	probably damaging	1.00
R0023:Sppl2a	UTSW	2	126913293	splice site	probably null
R0240:Sppl2a	UTSW	2	126920336	missense	probably benign	0.14
R0240:Sppl2a	UTSW	2	126920336	missense	probably benign	0.14
R0458:Sppl2a	UTSW	2	126904959	missense	probably damaging	1.00
R0627:Sppl2a	UTSW	2	126920417	unclassified	probably benign
R1029:Sppl2a	UTSW	2	126923594	missense	probably benign	0.00
R1245:Sppl2a	UTSW	2	126913521	splice site	probably benign
R1669:Sppl2a	UTSW	2	126917794	splice site	probably benign
R2047:Sppl2a	UTSW	2	126926852	missense	probably damaging	1.00
R2215:Sppl2a	UTSW	2	126927834	missense	probably benign	0.00
R2428:Sppl2a	UTSW	2	126912695	missense	possibly damaging	0.93
R3522:Sppl2a	UTSW	2	126920322	missense	possibly damaging	0.66
R4653:Sppl2a	UTSW	2	126920313	splice site	probably null
R5398:Sppl2a	UTSW	2	126919718	missense	probably benign	0.00
R6382:Sppl2a	UTSW	2	126917029	intron	probably null
R6888:Sppl2a	UTSW	2	126904992	missense	probably damaging	0.99
R6892:Sppl2a	UTSW	2	126913575	missense	probably damaging	1.00
R7021:Sppl2a	UTSW	2	126927743	splice site	probably null
R7750:Sppl2a	UTSW	2	126919705	missense	probably damaging	1.00
R8129:Sppl2a	UTSW	2	126923470	missense	probably damaging	1.00
RF016:Sppl2a	UTSW	2	126927774	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGCGGTGCTTTCCAAGACTGATG -3'
(R):5'- TGCGCCTTAGCAACTGCTTCAC -3'

Sequencing Primer
(F):5'- aggaggcagaggcagac -3'
(R):5'- CTTAGCAACTGCTTCACATAGC -3'

Posted On

2013-10-16