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: 0.081) question?

Stock #

R6888 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126732311-126775155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126746912 bp (GRCm39)

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
Actg1	T	C	11: 120,238,141 (GRCm39)	Y190C	probably damaging	Het
Adgrv1	A	G	13: 81,656,788 (GRCm39)	I2902T	probably damaging	Het
AI429214	G	A	8: 37,460,987 (GRCm39)	G45D	possibly damaging	Het
Ambra1	A	G	2: 91,599,372 (GRCm39)	D164G	probably damaging	Het
Ap3b1	A	T	13: 94,545,299 (GRCm39)	Q184L	probably benign	Het
Arhgef17	T	C	7: 100,580,027 (GRCm39)	D307G	possibly damaging	Het
AY761185	A	T	8: 21,434,571 (GRCm39)	Y52*	probably null	Het
Bfsp1	A	G	2: 143,668,639 (GRCm39)	S647P	probably benign	Het
C130073F10Rik	A	G	4: 101,747,453 (GRCm39)	V192A	probably benign	Het
Cacna1g	T	A	11: 94,350,033 (GRCm39)	D604V	probably benign	Het
Ccdc170	T	C	10: 4,496,854 (GRCm39)	V458A	possibly damaging	Het
Ccdc187	G	A	2: 26,179,746 (GRCm39)	R238W	probably damaging	Het
Cdh1	A	G	8: 107,384,946 (GRCm39)	S380G	probably benign	Het
Cdk5rap3	T	C	11: 96,807,018 (GRCm39)	H4R	probably benign	Het
Cftr	G	A	6: 18,313,729 (GRCm39)		probably null	Het
Cstpp1	A	G	2: 91,252,239 (GRCm39)	Y41H	probably damaging	Het
Dnajc16	A	G	4: 141,504,303 (GRCm39)	V219A	probably benign	Het
Drd3	A	T	16: 43,637,502 (GRCm39)	I266F	probably benign	Het
Dut	A	G	2: 125,099,044 (GRCm39)	D177G	probably benign	Het
Esr1	A	G	10: 4,807,076 (GRCm39)	I331V	probably benign	Het
Gm11110	A	G	17: 57,409,143 (GRCm39)		probably benign	Het
Grm7	G	T	6: 111,335,314 (GRCm39)	G575V	possibly damaging	Het
Heatr3	A	G	8: 88,897,512 (GRCm39)	Y531C	probably damaging	Het
Igfn1	A	G	1: 135,910,218 (GRCm39)	V122A	probably benign	Het
Igsf21	T	C	4: 139,762,054 (GRCm39)	D208G	probably benign	Het
Kntc1	T	C	5: 123,949,373 (GRCm39)	Y1915H	probably damaging	Het
Lamc1	A	T	1: 153,138,238 (GRCm39)	D205E	probably damaging	Het
Limch1	C	T	5: 67,179,269 (GRCm39)	T713I	probably benign	Het
Lrp1b	A	G	2: 41,361,138 (GRCm39)	I555T	probably benign	Het
Lrp2	A	T	2: 69,354,485 (GRCm39)	F448I	probably damaging	Het
Marchf6	T	C	15: 31,459,379 (GRCm39)	K896E	probably benign	Het
Mroh4	T	C	15: 74,485,098 (GRCm39)	Y469C	possibly damaging	Het
Niban3	G	T	8: 72,056,383 (GRCm39)	R361L	probably benign	Het
Nos3	T	C	5: 24,588,333 (GRCm39)	V1060A	possibly damaging	Het
Nr1h4	A	G	10: 89,292,404 (GRCm39)	I406T	probably damaging	Het
Odf2l	T	C	3: 144,854,379 (GRCm39)		probably null	Het
Or2y15	A	T	11: 49,351,087 (GRCm39)	T194S	probably damaging	Het
Or5d14	A	G	2: 87,880,608 (GRCm39)	M120T	probably damaging	Het
Pals2	T	G	6: 50,157,257 (GRCm39)		probably null	Het
Pbx2	A	G	17: 34,813,081 (GRCm39)	Y119C	possibly damaging	Het
Pdcd6ip	C	A	9: 113,500,905 (GRCm39)	A526S	probably benign	Het
Prx	G	A	7: 27,219,059 (GRCm39)	D1187N	possibly damaging	Het
Ptpro	G	A	6: 137,357,198 (GRCm39)	V230I	probably benign	Het
Rtn3	C	T	19: 7,434,614 (GRCm39)	M440I	probably benign	Het
Sar1b	T	C	11: 51,679,019 (GRCm39)	I96T	probably damaging	Het
Sds	T	C	5: 120,618,965 (GRCm39)		probably null	Het
Secisbp2	A	G	13: 51,833,977 (GRCm39)	T706A	probably benign	Het
Sorcs3	A	T	19: 48,682,263 (GRCm39)	M433L	possibly damaging	Het
Tbc1d9	A	G	8: 83,998,217 (GRCm39)	E1258G	possibly damaging	Het
Tbxas1	C	A	6: 38,929,008 (GRCm39)		probably benign	Het
Tg	T	C	15: 66,568,095 (GRCm39)	I1333T	probably damaging	Het
Tmem108	C	T	9: 103,376,915 (GRCm39)	G178D	probably damaging	Het
Tmem174	A	G	13: 98,773,569 (GRCm39)	L87P	probably damaging	Het
Tmppe	T	A	9: 114,233,769 (GRCm39)	S23T	probably damaging	Het
Ttn	G	A	2: 76,591,447 (GRCm39)	T21074I	probably benign	Het
Tub	A	G	7: 108,628,505 (GRCm39)	M338V	probably null	Het
Vmn1r160	A	T	7: 22,571,531 (GRCm39)	R295*	probably null	Het
Vps52	T	C	17: 34,182,180 (GRCm39)	V518A	probably benign	Het
Wdr59	A	G	8: 112,177,675 (GRCm39)	V909A	probably benign	Het
Wnk1	T	C	6: 119,925,742 (GRCm39)	T1241A	probably benign	Het
Zfp882	G	A	8: 72,668,130 (GRCm39)	C319Y	probably benign	Het
Znfx1	A	T	2: 166,880,860 (GRCm39)	I308N	possibly 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
R0458:Sppl2a	UTSW	2	126,746,879 (GRCm39)	missense	probably damaging	1.00
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
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'- TCTGTGAACTCAGGGCACTCTG -3'
(R):5'- TGTGCCCACAGTCACAAATC -3'

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

Posted On

2018-10-18