Mutagenetix > Incidental Mutation

Incidental Mutation 'R8129:Sppl2a'

631885

Institutional Source

Beutler Lab

Gene Symbol

Sppl2a

Ensembl Gene

ENSMUSG00000027366

Gene Name

signal peptide peptidase like 2A

Synonyms

C130089K23Rik, 2010106G01Rik

MMRRC Submission

067558-MU

Accession Numbers

Essential gene?

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

Stock #

R8129 (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 126765390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 244 (F244S)

Ref Sequence

ENSEMBL: ENSMUSP00000028844 (fasta)

Gene Model

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

AlphaFold

Q9JJF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000028844
AA Change: F244S

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

SMART Domains

Protein: ENSMUSP00000028844
Gene: ENSMUSG00000027366
AA Change: F244S

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

probably benign
Transcript: ENSMUST00000143700

SMART Domains

Protein: ENSMUSP00000119064
Gene: ENSMUSG00000027366

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.0%
20x: 85.2%

Validation Efficiency

98% (99/101)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,266,187 (GRCm39)	D161G	probably damaging	Het
Adamts19	T	C	18: 59,140,559 (GRCm39)		probably null	Het
Ahnak	A	T	19: 8,977,464 (GRCm39)	M1L	not run	Het
Appl1	A	G	14: 26,671,466 (GRCm39)	S329P	possibly damaging	Het
Bach1	C	T	16: 87,519,314 (GRCm39)	R535W	possibly damaging	Het
Bicc1	T	C	10: 70,915,033 (GRCm39)	D77G	probably benign	Het
Bub1b	T	A	2: 118,468,975 (GRCm39)	D913E	probably benign	Het
Cdhr2	G	T	13: 54,864,208 (GRCm39)		probably null	Het
Col25a1	T	C	3: 130,290,050 (GRCm39)	S247P	probably damaging	Het
Commd8	T	C	5: 72,320,164 (GRCm39)	M126V	unknown	Het
Dpysl4	C	T	7: 138,666,076 (GRCm39)	T13M	probably benign	Het
Epc1	A	G	18: 6,439,634 (GRCm39)	V776A	possibly damaging	Het
Fancg	G	T	4: 43,005,036 (GRCm39)		probably null	Het
Fdx1	T	C	9: 51,859,926 (GRCm39)	T135A	probably benign	Het
Fgf7	T	C	2: 125,877,765 (GRCm39)	V44A	probably benign	Het
Fgfr3	A	T	5: 33,891,250 (GRCm39)	M523L	probably damaging	Het
Focad	A	T	4: 88,151,000 (GRCm39)	H548L	unknown	Het
Ftsj3	C	A	11: 106,144,657 (GRCm39)	V111F	probably benign	Het
Gm28168	T	A	1: 117,857,483 (GRCm39)	D12E	probably damaging	Het
Gprin3	T	C	6: 59,330,844 (GRCm39)	T488A	probably benign	Het
Hormad2	C	A	11: 4,296,648 (GRCm39)	V279L	probably benign	Het
Hs6st1	A	G	1: 36,108,105 (GRCm39)	K123E	probably damaging	Het
Ice1	A	G	13: 70,754,320 (GRCm39)	S589P	probably benign	Het
Il1r1	T	A	1: 40,341,447 (GRCm39)	H286Q	probably benign	Het
Il1rl1	T	A	1: 40,490,987 (GRCm39)	C423S	probably damaging	Het
L1td1	A	T	4: 98,621,563 (GRCm39)	M42L	probably benign	Het
Large1	T	C	8: 73,542,585 (GRCm39)	D713G	probably damaging	Het
Llgl2	C	A	11: 115,741,737 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,260,624 (GRCm39)	V4536M	possibly damaging	Het
Map3k19	A	C	1: 127,750,420 (GRCm39)	L977R	possibly damaging	Het
Myo15a	A	T	11: 60,399,026 (GRCm39)	D1617V		Het
Nek3	A	G	8: 22,639,908 (GRCm39)	I189T	probably damaging	Het
Nrap	C	T	19: 56,355,068 (GRCm39)		probably null	Het
Omd	A	C	13: 49,745,565 (GRCm39)	D325A	probably damaging	Het
Or1x6	G	A	11: 50,939,210 (GRCm39)	R92K	probably benign	Het
Or4a76	C	A	2: 89,460,792 (GRCm39)	G150V	probably damaging	Het
Or52h7	A	G	7: 104,213,584 (GRCm39)	Y52C	probably benign	Het
Or5b118	A	T	19: 13,448,508 (GRCm39)	Y16F	probably damaging	Het
Pabpc6	C	T	17: 9,887,427 (GRCm39)	V375I	possibly damaging	Het
Pcdha5	A	G	18: 37,094,832 (GRCm39)	D447G	probably damaging	Het
Pla2r1	A	T	2: 60,262,944 (GRCm39)	W1032R	probably damaging	Het
Ppp2r5d	T	C	17: 46,995,263 (GRCm39)	Y524C	probably benign	Het
Ppp4r3b	T	C	11: 29,159,364 (GRCm39)	Y573H	probably damaging	Het
Prune2	T	C	19: 17,096,200 (GRCm39)	I568T	probably benign	Het
Ptpn22	G	A	3: 103,797,600 (GRCm39)		probably null	Het
Rbm12b1	A	G	4: 12,145,549 (GRCm39)	D507G	probably damaging	Het
Rdh7	A	G	10: 127,723,370 (GRCm39)	S162P	probably benign	Het
Rreb1	C	T	13: 38,113,775 (GRCm39)	A378V	probably benign	Het
Scaf11	A	G	15: 96,317,350 (GRCm39)	F738S	probably damaging	Het
Sdk1	C	A	5: 142,177,648 (GRCm39)	N2031K	probably benign	Het
Serpina3c	A	T	12: 104,118,056 (GRCm39)	L94Q	probably damaging	Het
Sgo2b	T	C	8: 64,381,834 (GRCm39)	S333G	possibly damaging	Het
Slc22a15	A	G	3: 101,822,658 (GRCm39)	V88A	possibly damaging	Het
Smarcad1	G	T	6: 65,044,078 (GRCm39)	D217Y	probably benign	Het
Sspo	G	A	6: 48,443,959 (GRCm39)	D2156N	possibly damaging	Het
Taf2	G	A	15: 54,923,384 (GRCm39)	R298C	probably damaging	Het
Tap2	C	T	17: 34,424,672 (GRCm39)	T135I	probably benign	Het
Tbx15	G	T	3: 99,161,254 (GRCm39)	V20F	probably damaging	Het
Tes	A	T	6: 17,065,242 (GRCm39)		probably benign	Het
Tmem39b	A	T	4: 129,572,468 (GRCm39)	M378K	probably damaging	Het
Trim44	A	G	2: 102,230,848 (GRCm39)	V61A	unknown	Het
Ttll5	T	C	12: 85,937,858 (GRCm39)		probably null	Het
Tubgcp4	C	T	2: 121,004,109 (GRCm39)	T50I	possibly damaging	Het
Txndc17	G	A	11: 72,098,588 (GRCm39)	V47M	probably damaging	Het
Ubp1	A	G	9: 113,804,417 (GRCm39)	E494G	possibly damaging	Het
Utp20	A	T	10: 88,628,487 (GRCm39)	S936T	probably benign	Het
Wdr64	A	G	1: 175,603,154 (GRCm39)	D585G	probably damaging	Het
Wdtc1	A	T	4: 133,031,460 (GRCm39)		probably null	Het
Zfp292	A	G	4: 34,807,386 (GRCm39)	M1891T	probably damaging	Het
Zfp84	A	C	7: 29,475,862 (GRCm39)	I185L	probably benign	Het
Zmym4	A	G	4: 126,808,956 (GRCm39)	F364L	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
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
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'- GAGGTTGAATGATTTTCTTCTCACATC -3'
(R):5'- TGACGCATTCCTGTGCATG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGCAAGTTTCAGG -3'
(R):5'- CCTGTGCATGTTTATACAGGGAAAAC -3'

Posted On

2020-06-30