Mutagenetix > Incidental Mutation

Incidental Mutation 'R0240:Sppl2a'

59287

Institutional Source

Beutler Lab

Gene Symbol

Sppl2a

Ensembl Gene

ENSMUSG00000027366

Gene Name

signal peptide peptidase like 2A

Synonyms

C130089K23Rik, 2010106G01Rik

MMRRC Submission

038478-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R0240 (G1)

Quality Score

115

Status

Validated

Chromosome

Chromosomal Location

126890391-126933235 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126920336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 275 (M275K)

Ref Sequence

ENSEMBL: ENSMUSP00000028844 (fasta)

Gene Model

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

AlphaFold

Q9JJF9

Predicted Effect

probably benign
Transcript: ENSMUST00000028844
AA Change: M275K

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366
AA Change: M275K

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: M3K

SMART Domains

Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366
AA Change: M3K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (112/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	G	14: 49,768,402		probably benign	Het
Acsf3	T	C	8: 122,780,181	L71P	probably damaging	Het
Adamts2	A	T	11: 50,775,374	D399V	probably damaging	Het
Adck2	T	A	6: 39,583,818	V380E	probably benign	Het
Alg11	T	A	8: 22,065,452	V243D	possibly damaging	Het
Ankrd27	T	A	7: 35,619,439	L585Q	probably damaging	Het
Atp7a	T	A	X: 106,109,841	N1117K	probably damaging	Het
Cacna1b	G	A	2: 24,638,657		probably benign	Het
Cacna1d	T	A	14: 30,096,969	M1210L	probably benign	Het
Cacna1s	T	C	1: 136,073,496		probably benign	Het
Ccdc155	C	T	7: 45,200,251	A83T	probably benign	Het
Chd7	T	C	4: 8,852,670		probably benign	Het
Col12a1	A	T	9: 79,652,033	S1858T	probably benign	Het
Cotl1	C	T	8: 119,840,324	W26*	probably null	Het
Csmd3	T	C	15: 47,629,239	T3000A	probably benign	Het
Dcp1a	T	A	14: 30,484,594		probably benign	Het
Ddhd2	A	T	8: 25,739,590		probably null	Het
Dnah8	T	C	17: 30,765,679	I3117T	probably damaging	Het
Dnm3	G	T	1: 162,353,625	Q162K	probably benign	Het
Dpy19l2	G	T	9: 24,658,580	A359D	probably damaging	Het
Ece1	T	A	4: 137,949,435		probably benign	Het
Eif4g3	A	G	4: 138,170,562	K1025R	probably damaging	Het
Eml2	C	A	7: 19,184,872	Y82*	probably null	Het
Eml6	A	G	11: 29,792,367	V1057A	possibly damaging	Het
Eral1	A	G	11: 78,076,058		probably benign	Het
Espl1	T	C	15: 102,312,541	S911P	probably benign	Het
Fbxo8	A	G	8: 56,590,261		probably benign	Het
Flrt1	A	T	19: 7,097,110		probably benign	Het
Fndc7	A	G	3: 108,858,919		probably benign	Het
G3bp1	G	A	11: 55,492,028	G139D	probably damaging	Het
Gabra6	C	T	11: 42,314,947	V351I	probably benign	Het
Galc	A	T	12: 98,252,034	H186Q	probably damaging	Het
Ganab	A	G	19: 8,912,813	D702G	possibly damaging	Het
Gm13762	A	T	2: 88,973,396	L165Q	probably damaging	Het
Hdac10	T	C	15: 89,125,882	E291G	possibly damaging	Het
Hectd3	T	G	4: 117,002,613	V749G	probably damaging	Het
Kcnh1	T	A	1: 192,505,340	I703N	probably benign	Het
Kcnma1	G	A	14: 23,494,579	T505I	probably damaging	Het
Kctd11	A	G	11: 69,879,814	C133R	probably damaging	Het
Lama3	A	T	18: 12,539,823		probably null	Het
Lamb3	T	C	1: 193,335,027	L842P	probably damaging	Het
Ldlr	T	C	9: 21,737,999		probably benign	Het
Lipk	G	A	19: 34,046,810	R336H	probably benign	Het
Lrrc24	T	A	15: 76,723,209	D58V	probably damaging	Het
Lrsam1	A	G	2: 32,955,185	L106P	probably damaging	Het
Milr1	G	A	11: 106,754,896	W88*	probably null	Het
Mmp10	A	G	9: 7,506,543	D340G	probably damaging	Het
Mybpc1	T	A	10: 88,555,738	Y285F	possibly damaging	Het
Ncoa3	A	G	2: 166,054,400	T408A	probably benign	Het
Nefm	T	A	14: 68,121,134	K484*	probably null	Het
Nfasc	A	G	1: 132,601,983	S814P	probably damaging	Het
Nlrp4a	T	C	7: 26,462,516	V863A	probably benign	Het
Nos1	C	T	5: 117,867,883	P223S	probably benign	Het
Nr2f2	G	C	7: 70,360,175	P52R	probably damaging	Het
Olfr1440	A	T	19: 12,394,963	E233D	probably benign	Het
Olfr155	T	A	4: 43,854,512	S68T	probably damaging	Het
Olfr228	A	G	2: 86,483,386	S119P	possibly damaging	Het
Osbpl5	T	C	7: 143,741,669		probably null	Het
Otog	C	A	7: 46,264,032		probably null	Het
Pacs1	A	T	19: 5,156,374	I261N	possibly damaging	Het
Pbx1	G	A	1: 168,203,482	T189I	possibly damaging	Het
Pcnx	T	C	12: 81,947,018	I908T	possibly damaging	Het
Pdxdc1	A	T	16: 13,879,445	W124R	probably damaging	Het
Phex	C	A	X: 157,186,218	D587Y	probably damaging	Het
Plcb3	A	T	19: 6,962,995	D435E	probably benign	Het
Plce1	A	C	19: 38,728,886	K1373T	probably damaging	Het
Prkcd	G	A	14: 30,602,088	A311V	probably damaging	Het
Ptpn3	A	T	4: 57,232,374	S421T	probably benign	Het
Ptprs	T	C	17: 56,436,087		probably null	Het
Qrich1	A	G	9: 108,534,134	D286G	probably damaging	Het
Rcc1	C	A	4: 132,332,915	G393V	probably damaging	Het
Reln	T	C	5: 22,106,045	N290S	probably benign	Het
Rgl1	T	C	1: 152,554,424		probably benign	Het
Rhpn1	C	T	15: 75,714,122	T628I	probably benign	Het
Rilp	A	G	11: 75,510,921	R176G	probably benign	Het
Riok3	C	T	18: 12,155,227	A487V	probably benign	Het
Rnf224	T	C	2: 25,236,207	T45A	probably damaging	Het
Rpa1	A	G	11: 75,328,687	V137A	probably benign	Het
Rps6ka1	C	A	4: 133,848,531	Q693H	probably benign	Het
Scn2a	G	T	2: 65,735,774	V1381F	probably benign	Het
Scp2	T	A	4: 108,098,078	H112L	probably benign	Het
Sdk1	T	C	5: 141,998,747	W696R	probably damaging	Het
Slc26a7	C	A	4: 14,532,651	V408F	probably damaging	Het
Slc28a2	T	A	2: 122,454,527	I332N	probably benign	Het
Slc37a3	A	G	6: 39,337,238	V480A	probably benign	Het
Slc45a4	T	A	15: 73,581,906	E674D	probably benign	Het
Smpd3	T	C	8: 106,265,156	E255G	probably damaging	Het
Snx29	C	T	16: 11,660,553	R658W	probably damaging	Het
Stac	T	C	9: 111,635,021	N59S	probably damaging	Het
Stk25	A	T	1: 93,627,060	L131Q	probably damaging	Het
Tep1	C	T	14: 50,863,029		probably benign	Het
Thbs1	C	A	2: 118,114,393	N229K	probably damaging	Het
Tmx2	A	T	2: 84,675,842	H89Q	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tradd	T	C	8: 105,259,292	N209S	possibly damaging	Het
Trappc3l	A	T	10: 34,098,932	R119*	probably null	Het
Trmt1l	G	A	1: 151,457,454		probably benign	Het
Ublcp1	G	T	11: 44,458,277	Y243*	probably null	Het
Uhrf1bp1	T	A	17: 27,895,870		probably benign	Het
Usp24	C	A	4: 106,414,404	C2158*	probably null	Het
Usp34	A	T	11: 23,433,206	K2088N	probably damaging	Het
Vmn1r53	G	C	6: 90,223,943	S133C	probably damaging	Het
Vmn2r52	A	G	7: 10,159,400	V604A	probably damaging	Het
Vmn2r93	A	G	17: 18,304,799	K240E	probably benign	Het
Wdr13	T	G	X: 8,128,045	D242A	probably damaging	Het
Wwp1	C	T	4: 19,641,734		probably null	Het
Zan	G	A	5: 137,398,362	H4311Y	unknown	Het
Zc3h12c	C	A	9: 52,144,083	R123L	possibly damaging	Het
Zfp125	A	T	12: 20,900,561		noncoding transcript	Het
Zfp318	C	T	17: 46,396,813	P266S	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
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
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	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'- TGGCGGTGCTTTCCAAGACTGATG -3'
(R):5'- TGCGCCTTAGCAACTGCTTCAC -3'

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

Posted On

2013-07-11