Mutagenetix > Incidental Mutation

Incidental Mutation 'R7750:Sppl2a'

597135

Institutional Source

Beutler Lab

Gene Symbol

Sppl2a

Ensembl Gene

ENSMUSG00000027366

Gene Name

signal peptide peptidase like 2A

Synonyms

C130089K23Rik, 2010106G01Rik

MMRRC Submission

045806-MU

Accession Numbers

Essential gene?

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

Stock #

R7750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126732311-126775155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126761625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 293 (L293P)

Ref Sequence

ENSEMBL: ENSMUSP00000028844 (fasta)

Gene Model

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

AlphaFold

Q9JJF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000028844
AA Change: L293P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366
AA Change: L293P

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: L21P

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

Meta Mutation Damage Score

0.8646

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (56/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,199 (GRCm39)	D816V	possibly damaging	Het
Abca16	A	T	7: 120,113,928 (GRCm39)	N933I	probably benign	Het
Acly	A	T	11: 100,368,839 (GRCm39)		probably null	Het
Acox1	C	T	11: 116,074,406 (GRCm39)	G105D	possibly damaging	Het
Ankrd24	A	G	10: 81,482,628 (GRCm39)	E939G	possibly damaging	Het
Bard1	T	A	1: 71,106,101 (GRCm39)		probably null	Het
Brd4	G	T	17: 32,432,521 (GRCm39)	N579K	unknown	Het
C1qc	T	C	4: 136,617,592 (GRCm39)	Y168C	probably damaging	Het
Casp6	A	G	3: 129,705,858 (GRCm39)	D175G	probably damaging	Het
Ccdc83	A	T	7: 89,873,190 (GRCm39)	Y388*	probably null	Het
Clasrp	A	T	7: 19,318,516 (GRCm39)	*628R	probably null	Het
Cox4i1	A	G	8: 121,400,049 (GRCm39)	I111V	probably benign	Het
Cpvl	T	A	6: 53,903,886 (GRCm39)	D293V	probably damaging	Het
Epb41l4b	C	T	4: 57,076,913 (GRCm39)		probably null	Het
Frem2	C	A	3: 53,431,103 (GRCm39)	L2743F	possibly damaging	Het
Frmd4a	A	T	2: 4,606,160 (GRCm39)	H628L	probably benign	Het
Fyb1	A	G	15: 6,690,184 (GRCm39)	D809G	probably damaging	Het
Gm19410	T	A	8: 36,274,652 (GRCm39)	M1491K	possibly damaging	Het
Gm3604	G	A	13: 62,517,810 (GRCm39)	H183Y	possibly damaging	Het
H1f7	A	G	15: 98,154,565 (GRCm39)	S195P	unknown	Het
Lama2	T	C	10: 26,866,920 (GRCm39)	Y2858C	probably damaging	Het
Methig1	T	C	15: 100,251,412 (GRCm39)	F108L	probably benign	Het
Mfsd4b5	A	G	10: 39,846,251 (GRCm39)	V443A	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myh9	C	T	15: 77,667,610 (GRCm39)	V608I	probably benign	Het
Myo1g	T	C	11: 6,464,849 (GRCm39)	D475G	probably damaging	Het
Neb	A	C	2: 52,170,728 (GRCm39)		probably null	Het
Nlrp1b	T	A	11: 71,059,665 (GRCm39)	I769F	probably benign	Het
Nol8	G	T	13: 49,815,742 (GRCm39)	V617F	possibly damaging	Het
Or2d2b	A	T	7: 106,705,740 (GRCm39)	C109*	probably null	Het
Pik3r2	A	G	8: 71,223,545 (GRCm39)	F346S	probably damaging	Het
Pou3f3	T	A	1: 42,737,308 (GRCm39)	F335I	probably damaging	Het
Ppp1r3e	T	C	14: 55,114,084 (GRCm39)	D196G	probably damaging	Het
Prpf40a	T	C	2: 53,041,757 (GRCm39)	T545A	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rprd1a	T	A	18: 24,641,311 (GRCm39)	K102*	probably null	Het
Sim1	A	G	10: 50,772,131 (GRCm39)	T47A	possibly damaging	Het
Slc45a1	C	T	4: 150,728,498 (GRCm39)	A102T	probably damaging	Het
Slc6a11	C	T	6: 114,207,098 (GRCm39)	P361S	possibly damaging	Het
Slc9b2	T	C	3: 135,031,998 (GRCm39)	F286S	probably damaging	Het
Slco4a1	T	C	2: 180,113,030 (GRCm39)	S421P	probably benign	Het
Snap91	A	C	9: 86,680,762 (GRCm39)		probably null	Het
Sval3	T	A	6: 41,949,360 (GRCm39)	I66K	possibly damaging	Het
Synj2bp	T	C	12: 81,551,311 (GRCm39)	I85V	probably benign	Het
Thop1	G	T	10: 80,916,025 (GRCm39)	A403S	probably benign	Het
Timd4	T	A	11: 46,706,354 (GRCm39)	M52K	probably damaging	Het
Tmco5b	A	G	2: 113,118,609 (GRCm39)	N111D	probably damaging	Het
Trip10	G	A	17: 57,568,667 (GRCm39)	V419I	possibly damaging	Het
Trpv3	T	C	11: 73,176,847 (GRCm39)	Y409H	probably damaging	Het
Tulp4	A	G	17: 6,283,399 (GRCm39)	T1143A	probably damaging	Het
Ugt2b5	A	T	5: 87,288,108 (GRCm39)	S20T	probably benign	Het
Unc5b	A	G	10: 60,610,823 (GRCm39)	F406L	probably benign	Het
Usf3	A	G	16: 44,040,884 (GRCm39)	E1788G	probably benign	Het
Usp45	A	G	4: 21,780,430 (GRCm39)	D27G	probably damaging	Het
Vmn2r100	G	A	17: 19,742,726 (GRCm39)	V367I	probably benign	Het
Vmn2r49	T	A	7: 9,710,185 (GRCm39)	K849I	probably damaging	Het
Zfp119b	A	T	17: 56,245,682 (GRCm39)	H501Q	probably damaging	Het
Zfp462	C	A	4: 55,016,958 (GRCm39)	H893N	probably benign	Het
Zkscan4	A	G	13: 21,663,525 (GRCm39)	E88G	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
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
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
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'- TAGCAACGGGGCTCATACAG -3'
(R):5'- GAGGCAGTTATTATGCCTCATTG -3'

Sequencing Primer
(F):5'- gctcatacagagatcctgtTAA -3'
(R):5'- TGCCTCATTGGTTTTATGTAAAAATC -3'

Posted On

2019-11-26