Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Sppl2a'

267512

Institutional Source

Beutler Lab

Gene Symbol

Sppl2a

Ensembl Gene

ENSMUSG00000027366

Gene Name

signal peptide peptidase like 2A

Synonyms

C130089K23Rik, 2010106G01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126890391-126933235 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126920322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 280 (C280R)

Ref Sequence

ENSEMBL: ENSMUSP00000028844 (fasta)

Gene Model

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

AlphaFold

Q9JJF9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028844
AA Change: C280R

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366
AA Change: C280R

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

unknown
Transcript: ENSMUST00000143700
AA Change: C8R

SMART Domains

Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366
AA Change: C8R

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

Meta Mutation Damage Score

0.8854

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,549,626		probably null	Het
Ankrd35	A	G	3: 96,685,062	E888G	probably damaging	Het
Arhgef10	T	C	8: 14,954,918	F150S	probably damaging	Het
Atp10d	G	T	5: 72,239,157	R235L	probably benign	Het
Cacna1b	A	G	2: 24,763,043	V2A	possibly damaging	Het
Cand1	A	T	10: 119,239,197	L15Q	probably benign	Het
Cavin3	C	A	7: 105,481,143	G154V	probably benign	Het
Ccdc73	A	T	2: 104,991,485	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,250,410	K161E	probably damaging	Het
Chil4	A	T	3: 106,203,740	N279K	probably benign	Het
Chst13	T	G	6: 90,318,263	D56A	probably damaging	Het
Cnn1	C	A	9: 22,099,368	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,702,493	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,871,193		probably null	Het
Dnah7a	A	C	1: 53,618,116	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,484,181	S182P	probably benign	Het
Fkbp5	T	C	17: 28,415,996	T180A	probably benign	Het
Flg2	T	A	3: 93,220,027	I2082N	unknown	Het
Gm4968	A	G	6: 127,233,762		noncoding transcript	Het
Gpc5	T	A	14: 116,524,335	H612Q	probably benign	Het
Gsg1	A	T	6: 135,241,253	V212D	probably damaging	Het
Hipk1	A	G	3: 103,744,114	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,576,285	Q136L	probably benign	Het
Ifi35	T	A	11: 101,457,685	S147R	probably benign	Het
Iqgap3	C	T	3: 88,090,782	A282V	probably null	Het
Jmy	T	C	13: 93,454,050	D515G	probably damaging	Het
Kctd10	G	A	5: 114,374,923	R64C	probably damaging	Het
Kidins220	T	C	12: 24,990,758	V121A	probably damaging	Het
Lcn3	G	A	2: 25,766,121	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,639,531	Y72F	probably benign	Het
Lrp1	T	C	10: 127,553,555	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,719,768	V222M	probably damaging	Het
Mst1	T	C	9: 108,081,503		probably benign	Het
Myo7b	C	A	18: 32,010,079	V189F	probably damaging	Het
Ndc1	T	C	4: 107,393,158	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,944,027	D164G	probably damaging	Het
Nol11	C	T	11: 107,173,628	C500Y	possibly damaging	Het
Nsd3	A	G	8: 25,706,614	N1208D	probably benign	Het
Nup155	C	T	15: 8,156,678		probably benign	Het
Olfr768	A	G	10: 129,093,842	I44T	possibly damaging	Het
Olfr911-ps1	A	G	9: 38,523,785	T18A	probably damaging	Het
Olfr921	A	T	9: 38,775,720	D155V	possibly damaging	Het
Olfr988	A	T	2: 85,353,003	C308S	probably benign	Het
Phf3	A	G	1: 30,805,603	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,448,906	Y777H	probably damaging	Het
Pld1	A	G	3: 28,031,247	E184G	probably damaging	Het
Plxna1	T	C	6: 89,337,353		probably null	Het
Ptgfrn	T	C	3: 101,043,402	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,589,854		probably benign	Het
Pygb	G	T	2: 150,828,553	V763F	probably benign	Het
Ros1	A	C	10: 52,090,995	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,893,216	F5L	probably benign	Het
Skint5	A	G	4: 113,756,905		probably null	Het
Sntg2	A	G	12: 30,312,567	V60A	probably damaging	Het
Srrm4	A	C	5: 116,446,544	M1R	probably null	Het
Sult1c1	T	C	17: 53,972,015	E91G	probably damaging	Het
Themis2	C	G	4: 132,785,595	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,059	L232P	probably benign	Het
Trappc1	T	C	11: 69,324,422	F43L	probably damaging	Het
Trappc11	A	T	8: 47,498,673	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,627,405	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,663,075		probably null	Het
Vmn1r184	T	A	7: 26,267,583	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,099,374	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,747,865	V233F	probably benign	Het
Vps13a	A	C	19: 16,766,493		probably benign	Het
Vwa5b2	A	G	16: 20,601,608	S756G	probably damaging	Het
Wdr36	T	A	18: 32,861,485		probably null	Het
Wdr86	A	G	5: 24,718,307	V129A	probably benign	Het
Zfyve9	A	G	4: 108,719,743	L47S	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
jacob	UTSW	2	126913281	splice site	probably null
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
R0799:Sppl2a	UTSW	2	126920307	splice site	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
R4653:Sppl2a	UTSW	2	126920313	splice site	probably null
R5398:Sppl2a	UTSW	2	126919718	missense	probably benign	0.00
R6382:Sppl2a	UTSW	2	126917029	splice site	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
R8136:Sppl2a	UTSW	2	126913281	splice site	probably null
R8772:Sppl2a	UTSW	2	126926311	missense	probably benign	0.16
R9128:Sppl2a	UTSW	2	126923473	missense	probably damaging	1.00
R9144:Sppl2a	UTSW	2	126927823	missense	probably benign	0.00
RF016:Sppl2a	UTSW	2	126927774	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCAGGAATTCAGTGTAAAGATCCC -3'
(R):5'- GACTCTTGGTTGCGCCTTAG -3'

Sequencing Primer
(F):5'- CCTTTAAGTCCTAGCACTGAGGTAG -3'
(R):5'- TGCGCCTTAGCAACTGC -3'

Posted On

2015-02-18