Mutagenetix > Incidental Mutation

Incidental Mutation 'R0458:Sppl2a'

41282

Institutional Source

Beutler Lab

Gene Symbol

Sppl2a

Ensembl Gene

ENSMUSG00000027366

Gene Name

signal peptide peptidase like 2A

Synonyms

C130089K23Rik, 2010106G01Rik

MMRRC Submission

038658-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0458 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

126732311-126775155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126746879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 483 (A483D)

Ref Sequence

ENSEMBL: ENSMUSP00000028844 (fasta)

Gene Model

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

AlphaFold

Q9JJF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000028844
AA Change: A483D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366
AA Change: A483D

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

unknown
Transcript: ENSMUST00000143700
AA Change: A229D

SMART Domains

Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366
AA Change: A229D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183494

Meta Mutation Damage Score

0.9363

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	A	G	1: 85,856,747 (GRCm39)	E8G	unknown	Het
9130008F23Rik	T	C	17: 41,191,127 (GRCm39)	T101A	probably benign	Het
Abcb8	C	T	5: 24,611,231 (GRCm39)	T455I	probably benign	Het
Abcb9	C	A	5: 124,220,209 (GRCm39)		probably null	Het
Akp3	T	G	1: 87,054,259 (GRCm39)	Y265*	probably null	Het
Atp6v1b1	A	T	6: 83,729,390 (GRCm39)	D109V	probably damaging	Het
Aurka	C	A	2: 172,212,366 (GRCm39)	E4*	probably null	Het
Cacna1g	T	A	11: 94,300,266 (GRCm39)	Q2168L	probably damaging	Het
Cdc45	T	A	16: 18,600,722 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,850,837 (GRCm39)	V325A	probably benign	Het
Clasp2	T	A	9: 113,735,292 (GRCm39)		probably null	Het
Crim1	T	A	17: 78,620,655 (GRCm39)	I365N	probably damaging	Het
Dcaf8	A	G	1: 172,001,610 (GRCm39)	N269S	probably benign	Het
Dnaaf5	T	C	5: 139,147,633 (GRCm39)	V399A	possibly damaging	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Eef2k	T	C	7: 120,502,513 (GRCm39)	Y692H	probably damaging	Het
Elavl2	A	T	4: 91,197,104 (GRCm39)		probably benign	Het
Epn2	C	A	11: 61,437,281 (GRCm39)	R97L	possibly damaging	Het
Fam243	T	C	16: 92,117,995 (GRCm39)	I98V	probably benign	Het
Fzd6	G	A	15: 38,894,676 (GRCm39)	A281T	probably damaging	Het
Garem2	T	A	5: 30,319,180 (GRCm39)	I214N	probably damaging	Het
Glg1	A	G	8: 111,887,238 (GRCm39)		probably benign	Het
Golm1	T	C	13: 59,812,178 (GRCm39)	E48G	probably damaging	Het
Gpaa1	G	T	15: 76,216,233 (GRCm39)	R12L	probably benign	Het
Gstm1	T	A	3: 107,924,679 (GRCm39)	T34S	probably benign	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Herc1	A	T	9: 66,383,663 (GRCm39)	Q3709L	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Icam1	A	G	9: 20,939,157 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,510,096 (GRCm39)		probably null	Het
Kif15	T	C	9: 122,838,424 (GRCm39)	F1121L	probably benign	Het
Klhl30	T	A	1: 91,288,718 (GRCm39)		probably benign	Het
Ldlrad1	T	C	4: 107,073,387 (GRCm39)	C141R	probably damaging	Het
Lemd2	T	C	17: 27,409,627 (GRCm39)	D508G	probably damaging	Het
Lilra5	A	C	7: 4,241,218 (GRCm39)	T52P	probably benign	Het
Lrtm2	G	A	6: 119,294,229 (GRCm39)	P301S	probably damaging	Het
Mcoln2	A	G	3: 145,855,768 (GRCm39)		probably benign	Het
Mkrn2os	A	G	6: 115,563,631 (GRCm39)	S135P	probably damaging	Het
Mlxipl	T	C	5: 135,162,224 (GRCm39)	V607A	probably benign	Het
Mmadhc	T	C	2: 50,171,173 (GRCm39)	Y213C	probably benign	Het
Mpo	C	A	11: 87,687,123 (GRCm39)	A223E	probably benign	Het
Mthfd2l	C	G	5: 91,168,036 (GRCm39)	I310M	probably damaging	Het
Muc5b	C	A	7: 141,418,709 (GRCm39)	A3885D	probably benign	Het
Mvp	A	G	7: 126,597,663 (GRCm39)	W152R	probably damaging	Het
Nmur2	A	T	11: 55,931,394 (GRCm39)	F106I	possibly damaging	Het
Nr3c2	T	A	8: 77,636,167 (GRCm39)	F423I	probably damaging	Het
Or1l8	A	G	2: 36,817,349 (GRCm39)	V259A	probably damaging	Het
Or5m5	A	G	2: 85,814,600 (GRCm39)	S139G	probably benign	Het
Or8c16	G	A	9: 38,130,344 (GRCm39)	C75Y	probably damaging	Het
Or9q1	G	T	19: 13,805,593 (GRCm39)	H56N	probably benign	Het
Pappa	A	G	4: 65,074,119 (GRCm39)	I224M	probably damaging	Het
Prex1	A	C	2: 166,427,743 (GRCm39)	S800A	probably damaging	Het
Prkaca	T	C	8: 84,721,911 (GRCm39)		probably benign	Het
Ptpru	A	T	4: 131,526,986 (GRCm39)	V662E	possibly damaging	Het
Rabep1	T	A	11: 70,777,824 (GRCm39)		probably null	Het
Rbms2	C	T	10: 127,987,058 (GRCm39)	C50Y	probably damaging	Het
Rd3	C	T	1: 191,709,414 (GRCm39)	P25S	probably damaging	Het
Rnf148	T	G	6: 23,654,256 (GRCm39)	I247L	probably benign	Het
Sf3b3	A	G	8: 111,538,768 (GRCm39)		probably benign	Het
Slc35c1	A	T	2: 92,284,858 (GRCm39)	F252Y	probably damaging	Het
Slc38a11	T	C	2: 65,193,813 (GRCm39)		probably null	Het
Snx6	G	T	12: 54,814,921 (GRCm39)	Y17*	probably null	Het
Sox6	C	A	7: 115,089,029 (GRCm39)	R611L	probably damaging	Het
Spata13	G	A	14: 60,929,492 (GRCm39)	R350H	probably damaging	Het
Stat1	C	T	1: 52,188,211 (GRCm39)		probably benign	Het
Tab2	A	T	10: 7,795,319 (GRCm39)	Y314N	probably damaging	Het
Tor1aip1	T	C	1: 155,906,153 (GRCm39)	N213S	probably damaging	Het
Trim39	T	C	17: 36,572,404 (GRCm39)	K300E	probably damaging	Het
Tubal3	T	C	13: 3,983,137 (GRCm39)	S306P	probably damaging	Het
Ufm1	A	G	3: 53,768,655 (GRCm39)	L33P	probably damaging	Het
Washc4	G	A	10: 83,382,663 (GRCm39)	V26I	possibly damaging	Het
Wfs1	A	G	5: 37,126,013 (GRCm39)	Y293H	probably damaging	Het
Zbtb41	T	C	1: 139,351,214 (GRCm39)	V109A	probably damaging	Het
Zfp667	T	C	7: 6,307,844 (GRCm39)	S171P	probably benign	Het
Zkscan5	T	A	5: 145,142,281 (GRCm39)	H59Q	probably damaging	Het
Zswim8	C	T	14: 20,768,965 (GRCm39)	R1128W	probably damaging	Het

Other mutations in Sppl2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Sppl2a	APN	2	126,761,640 (GRCm39)	missense	probably benign	0.04
IGL01471:Sppl2a	APN	2	126,759,787 (GRCm39)	nonsense	probably null
IGL01572:Sppl2a	APN	2	126,762,232 (GRCm39)	splice site	probably null
IGL01712:Sppl2a	APN	2	126,746,823 (GRCm39)	splice site	probably benign
IGL02203:Sppl2a	APN	2	126,746,861 (GRCm39)	missense	possibly damaging	0.68
IGL02572:Sppl2a	APN	2	126,768,216 (GRCm39)	missense	probably benign	0.07
abra	UTSW	2	126,765,514 (GRCm39)	missense	probably benign	0.00
abra2	UTSW	2	126,762,233 (GRCm39)	splice site	probably null
isaac	UTSW	2	126,755,495 (GRCm39)	missense	probably damaging	1.00
jacob	UTSW	2	126,755,201 (GRCm39)	splice site	probably null
PIT4431001:Sppl2a	UTSW	2	126,765,396 (GRCm39)	missense	probably damaging	1.00
R0023:Sppl2a	UTSW	2	126,755,213 (GRCm39)	splice site	probably null
R0240:Sppl2a	UTSW	2	126,762,256 (GRCm39)	missense	probably benign	0.14
R0240:Sppl2a	UTSW	2	126,762,256 (GRCm39)	missense	probably benign	0.14
R0627:Sppl2a	UTSW	2	126,762,337 (GRCm39)	unclassified	probably benign
R0799:Sppl2a	UTSW	2	126,762,227 (GRCm39)	splice site	probably benign
R1029:Sppl2a	UTSW	2	126,765,514 (GRCm39)	missense	probably benign	0.00
R1245:Sppl2a	UTSW	2	126,755,441 (GRCm39)	splice site	probably benign
R1669:Sppl2a	UTSW	2	126,759,714 (GRCm39)	splice site	probably benign
R2047:Sppl2a	UTSW	2	126,768,772 (GRCm39)	missense	probably damaging	1.00
R2215:Sppl2a	UTSW	2	126,769,754 (GRCm39)	missense	probably benign	0.00
R2428:Sppl2a	UTSW	2	126,754,615 (GRCm39)	missense	possibly damaging	0.93
R3522:Sppl2a	UTSW	2	126,762,242 (GRCm39)	missense	possibly damaging	0.66
R4653:Sppl2a	UTSW	2	126,762,233 (GRCm39)	splice site	probably null
R5398:Sppl2a	UTSW	2	126,761,638 (GRCm39)	missense	probably benign	0.00
R6382:Sppl2a	UTSW	2	126,758,949 (GRCm39)	splice site	probably null
R6888:Sppl2a	UTSW	2	126,746,912 (GRCm39)	missense	probably damaging	0.99
R6892:Sppl2a	UTSW	2	126,755,495 (GRCm39)	missense	probably damaging	1.00
R7021:Sppl2a	UTSW	2	126,769,663 (GRCm39)	splice site	probably null
R7750:Sppl2a	UTSW	2	126,761,625 (GRCm39)	missense	probably damaging	1.00
R8129:Sppl2a	UTSW	2	126,765,390 (GRCm39)	missense	probably damaging	1.00
R8136:Sppl2a	UTSW	2	126,755,201 (GRCm39)	splice site	probably null
R8772:Sppl2a	UTSW	2	126,768,231 (GRCm39)	missense	probably benign	0.16
R9128:Sppl2a	UTSW	2	126,765,393 (GRCm39)	missense	probably damaging	1.00
R9144:Sppl2a	UTSW	2	126,769,743 (GRCm39)	missense	probably benign	0.00
RF016:Sppl2a	UTSW	2	126,769,694 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGTTTCTGTGAACTCAGGGCACTC -3'
(R):5'- AGGGCATCTGACACCTCTAACCTC -3'

Sequencing Primer
(F):5'- CTGGGGTAATGCTAAGTTCCTGAC -3'
(R):5'- TCTAACCTCAGGAGCCTGTG -3'

Posted On

2013-05-23