Mutagenetix > Incidental Mutation

Incidental Mutation 'R6888:Sppl2a'

537028

Institutional Source

Beutler Lab

Gene Symbol

Sppl2a

Ensembl Gene

ENSMUSG00000027366

Gene Name

signal peptide peptidase like 2A

Synonyms

C130089K23Rik, 2010106G01Rik

MMRRC Submission

044982-MU

Accession Numbers

Essential gene?

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

Stock #

R6888 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126890391-126933235 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126904992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 472 (V472A)

Ref Sequence

ENSEMBL: ENSMUSP00000028844 (fasta)

Gene Model

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

AlphaFold

Q9JJF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000028844
AA Change: V472A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366
AA Change: V472A

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

SMART Domains

Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366
AA Change: V218A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	G	2: 91,421,894	Y41H	probably damaging	Het
Actg1	T	C	11: 120,347,315	Y190C	probably damaging	Het
Adgrv1	A	G	13: 81,508,669	I2902T	probably damaging	Het
AI429214	G	A	8: 36,993,833	G45D	possibly damaging	Het
Ambra1	A	G	2: 91,769,027	D164G	probably damaging	Het
Ap3b1	A	T	13: 94,408,791	Q184L	probably benign	Het
Arhgef17	T	C	7: 100,930,820	D307G	possibly damaging	Het
AY761185	A	T	8: 20,944,555	Y52*	probably null	Het
Bfsp1	A	G	2: 143,826,719	S647P	probably benign	Het
C130073F10Rik	A	G	4: 101,890,256	V192A	probably benign	Het
Cacna1g	T	A	11: 94,459,207	D604V	probably benign	Het
Ccdc170	T	C	10: 4,546,854	V458A	possibly damaging	Het
Ccdc187	G	A	2: 26,289,734	R238W	probably damaging	Het
Cdh1	A	G	8: 106,658,314	S380G	probably benign	Het
Cdk5rap3	T	C	11: 96,916,192	H4R	probably benign	Het
Cftr	G	A	6: 18,313,730		probably null	Het
Dnajc16	A	G	4: 141,776,992	V219A	probably benign	Het
Drd3	A	T	16: 43,817,139	I266F	probably benign	Het
Dut	A	G	2: 125,257,124	D177G	probably benign	Het
Esr1	A	G	10: 4,857,076	I331V	probably benign	Het
Fam129c	G	T	8: 71,603,739	R361L	probably benign	Het
Gm11110	A	G	17: 57,102,143		probably benign	Het
Grm7	G	T	6: 111,358,353	G575V	possibly damaging	Het
Heatr3	A	G	8: 88,170,884	Y531C	probably damaging	Het
Igfn1	A	G	1: 135,982,480	V122A	probably benign	Het
Igsf21	T	C	4: 140,034,743	D208G	probably benign	Het
Kntc1	T	C	5: 123,811,310	Y1915H	probably damaging	Het
Lamc1	A	T	1: 153,262,492	D205E	probably damaging	Het
Limch1	C	T	5: 67,021,926	T713I	probably benign	Het
Lrp1b	A	G	2: 41,471,126	I555T	probably benign	Het
Lrp2	A	T	2: 69,524,141	F448I	probably damaging	Het
March6	T	C	15: 31,459,233	K896E	probably benign	Het
Mpp6	T	G	6: 50,180,277		probably null	Het
Mroh4	T	C	15: 74,613,249	Y469C	possibly damaging	Het
Nos3	T	C	5: 24,383,335	V1060A	possibly damaging	Het
Nr1h4	A	G	10: 89,456,542	I406T	probably damaging	Het
Odf2l	T	C	3: 145,148,618		probably null	Het
Olfr1162	A	G	2: 88,050,264	M120T	probably damaging	Het
Olfr1387	A	T	11: 49,460,260	T194S	probably damaging	Het
Pbx2	A	G	17: 34,594,107	Y119C	possibly damaging	Het
Pdcd6ip	C	A	9: 113,671,837	A526S	probably benign	Het
Prx	G	A	7: 27,519,634	D1187N	possibly damaging	Het
Ptpro	G	A	6: 137,380,200	V230I	probably benign	Het
Rtn3	C	T	19: 7,457,249	M440I	probably benign	Het
Sar1b	T	C	11: 51,788,192	I96T	probably damaging	Het
Sds	T	C	5: 120,480,900		probably null	Het
Secisbp2	A	G	13: 51,679,941	T706A	probably benign	Het
Sorcs3	A	T	19: 48,693,824	M433L	possibly damaging	Het
Tbc1d9	A	G	8: 83,271,588	E1258G	possibly damaging	Het
Tbxas1	C	A	6: 38,952,074		probably benign	Het
Tg	T	C	15: 66,696,246	I1333T	probably damaging	Het
Tmem108	C	T	9: 103,499,716	G178D	probably damaging	Het
Tmem174	A	G	13: 98,637,061	L87P	probably damaging	Het
Tmppe	T	A	9: 114,404,701	S23T	probably damaging	Het
Ttn	G	A	2: 76,761,103	T21074I	probably benign	Het
Tub	A	G	7: 109,029,298	M338V	probably null	Het
Vmn1r160	A	T	7: 22,872,106	R295*	probably null	Het
Vps52	T	C	17: 33,963,206	V518A	probably benign	Het
Wdr59	A	G	8: 111,451,043	V909A	probably benign	Het
Wnk1	T	C	6: 119,948,781	T1241A	probably benign	Het
Zfp882	G	A	8: 71,914,286	C319Y	probably benign	Het
Znfx1	A	T	2: 167,038,940	I308N	possibly damaging	Het

Other mutations in Sppl2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Sppl2a	APN	2	126,919,720 (GRCm38)	missense	probably benign	0.04
IGL01471:Sppl2a	APN	2	126,917,867 (GRCm38)	nonsense	probably null
IGL01572:Sppl2a	APN	2	126,920,312 (GRCm38)	splice site	probably null
IGL01712:Sppl2a	APN	2	126,904,903 (GRCm38)	splice site	probably benign
IGL02203:Sppl2a	APN	2	126,904,941 (GRCm38)	missense	possibly damaging	0.68
IGL02572:Sppl2a	APN	2	126,926,296 (GRCm38)	missense	probably benign	0.07
abra	UTSW	2	126,923,594 (GRCm38)	missense	probably benign	0.00
abra2	UTSW	2	126,920,313 (GRCm38)	splice site	probably null
isaac	UTSW	2	126,913,575 (GRCm38)	missense	probably damaging	1.00
jacob	UTSW	2	126,913,281 (GRCm38)	splice site	probably null
PIT4431001:Sppl2a	UTSW	2	126,923,476 (GRCm38)	missense	probably damaging	1.00
R0023:Sppl2a	UTSW	2	126,913,293 (GRCm38)	splice site	probably null
R0240:Sppl2a	UTSW	2	126,920,336 (GRCm38)	missense	probably benign	0.14
R0240:Sppl2a	UTSW	2	126,920,336 (GRCm38)	missense	probably benign	0.14
R0458:Sppl2a	UTSW	2	126,904,959 (GRCm38)	missense	probably damaging	1.00
R0627:Sppl2a	UTSW	2	126,920,417 (GRCm38)	unclassified	probably benign
R0799:Sppl2a	UTSW	2	126,920,307 (GRCm38)	splice site	probably benign
R1029:Sppl2a	UTSW	2	126,923,594 (GRCm38)	missense	probably benign	0.00
R1245:Sppl2a	UTSW	2	126,913,521 (GRCm38)	splice site	probably benign
R1669:Sppl2a	UTSW	2	126,917,794 (GRCm38)	splice site	probably benign
R2047:Sppl2a	UTSW	2	126,926,852 (GRCm38)	missense	probably damaging	1.00
R2215:Sppl2a	UTSW	2	126,927,834 (GRCm38)	missense	probably benign	0.00
R2428:Sppl2a	UTSW	2	126,912,695 (GRCm38)	missense	possibly damaging	0.93
R3522:Sppl2a	UTSW	2	126,920,322 (GRCm38)	missense	possibly damaging	0.66
R4653:Sppl2a	UTSW	2	126,920,313 (GRCm38)	splice site	probably null
R5398:Sppl2a	UTSW	2	126,919,718 (GRCm38)	missense	probably benign	0.00
R6382:Sppl2a	UTSW	2	126,917,029 (GRCm38)	splice site	probably null
R6892:Sppl2a	UTSW	2	126,913,575 (GRCm38)	missense	probably damaging	1.00
R7021:Sppl2a	UTSW	2	126,927,743 (GRCm38)	splice site	probably null
R7750:Sppl2a	UTSW	2	126,919,705 (GRCm38)	missense	probably damaging	1.00
R8129:Sppl2a	UTSW	2	126,923,470 (GRCm38)	missense	probably damaging	1.00
R8136:Sppl2a	UTSW	2	126,913,281 (GRCm38)	splice site	probably null
R8772:Sppl2a	UTSW	2	126,926,311 (GRCm38)	missense	probably benign	0.16
R9128:Sppl2a	UTSW	2	126,923,473 (GRCm38)	missense	probably damaging	1.00
R9144:Sppl2a	UTSW	2	126,927,823 (GRCm38)	missense	probably benign	0.00
RF016:Sppl2a	UTSW	2	126,927,774 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTGTGAACTCAGGGCACTCTG -3'
(R):5'- TGTGCCCACAGTCACAAATC -3'

Sequencing Primer
(F):5'- CACTCTGGGGTAATGCTAAGTTCC -3'
(R):5'- GCCCACAGTCACAAATCCACAC -3'

Posted On

2018-10-18