Mutagenetix > Incidental Mutation

Incidental Mutation 'R6969:Sppl2b'

543393

Institutional Source

Beutler Lab

Gene Symbol

Sppl2b

Ensembl Gene

ENSMUSG00000035206

Gene Name

signal peptide peptidase like 2B

Synonyms

3110056O03Rik

MMRRC Submission

045079-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R6969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80691109-80704542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80700959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 314 (A314T)

Ref Sequence

ENSEMBL: ENSMUSP00000036289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035597] [ENSMUST00000220091]

AlphaFold

Q3TD49

Predicted Effect

probably damaging
Transcript: ENSMUST00000035597
AA Change: A314T

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

SMART Domains

Protein: ENSMUSP00000036289
Gene: ENSMUSG00000035206
AA Change: A314T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	25	36	N/A	INTRINSIC
Pfam:PA	55	147	5.5e-14	PFAM
transmembrane domain	167	189	N/A	INTRINSIC
PSN	210	485	2.16e-113	SMART
low complexity region	520	531	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000220091
AA Change: A162T

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

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.1%

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. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and overtly normal with no apparent defects in B cell and dendritic cell homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,958,317 (GRCm39)	L800H	unknown	Het
Ap2b1	T	A	11: 83,280,552 (GRCm39)	D788E	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arhgap9	G	A	10: 127,162,512 (GRCm39)	E348K	probably benign	Het
B4galnt2	A	T	11: 95,782,756 (GRCm39)	F19I	probably benign	Het
Bdp1	A	T	13: 100,211,039 (GRCm39)	I551N	probably damaging	Het
Ceacam16	A	G	7: 19,586,230 (GRCm39)	*427Q	probably null	Het
Chd9	A	C	8: 91,705,542 (GRCm39)	Q260P	probably benign	Het
Col16a1	A	T	4: 129,986,880 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 17,266,805 (GRCm39)	N40K	possibly damaging	Het
Depdc5	T	G	5: 33,141,204 (GRCm39)	V1368G	probably damaging	Het
Dnah7b	C	A	1: 46,397,398 (GRCm39)	P3943Q	probably damaging	Het
Dnttip2	A	G	3: 122,076,141 (GRCm39)	Q691R	probably damaging	Het
Dusp10	T	C	1: 183,801,085 (GRCm39)	L284P	probably damaging	Het
Efr3b	A	G	12: 4,018,624 (GRCm39)	V574A	probably benign	Het
Erc2	A	T	14: 27,620,553 (GRCm39)	I60F	probably damaging	Het
Exoc2	A	G	13: 31,095,161 (GRCm39)	V245A	probably benign	Het
Fasl	G	T	1: 161,609,244 (GRCm39)	F37L	probably damaging	Het
Fat3	G	A	9: 15,941,212 (GRCm39)	P1360S	probably benign	Het
Gpsm1	C	T	2: 26,230,555 (GRCm39)	P502S	probably benign	Het
Gtpbp10	C	A	5: 5,605,331 (GRCm39)	G124V	probably damaging	Het
Insm2	T	C	12: 55,646,963 (GRCm39)	C236R	probably damaging	Het
Irf2bpl	A	G	12: 86,929,468 (GRCm39)	Y402H	possibly damaging	Het
Irx6	A	G	8: 93,403,958 (GRCm39)	E175G	probably damaging	Het
Kcnh8	C	T	17: 53,184,971 (GRCm39)	R418*	probably null	Het
Kif3c	G	A	12: 3,416,114 (GRCm39)	R45Q	probably benign	Het
Larp7-ps	A	G	4: 92,079,826 (GRCm39)	I54T	probably damaging	Het
Lpin1	A	G	12: 16,630,862 (GRCm39)	F12S	probably damaging	Het
Lrba	A	T	3: 86,526,897 (GRCm39)	T156S	probably benign	Het
Lrrc19	G	T	4: 94,527,610 (GRCm39)	N200K	probably benign	Het
Lrrc7	G	A	3: 157,862,550 (GRCm39)	H1296Y	probably benign	Het
Ltn1	A	T	16: 87,212,578 (GRCm39)	F661Y	probably damaging	Het
Macf1	T	C	4: 123,351,593 (GRCm39)	Y1893C	probably benign	Het
Mmd	G	C	11: 90,148,362 (GRCm39)	A15P	probably damaging	Het
Myh2	T	C	11: 67,088,092 (GRCm39)	F1903L	probably benign	Het
Myom3	T	C	4: 135,528,371 (GRCm39)	L1072P	probably damaging	Het
Or13l2	A	T	3: 97,318,118 (GRCm39)	Y126*	probably null	Het
Or56a41	T	C	7: 104,740,463 (GRCm39)	I128V	probably benign	Het
Or5bw2	G	A	7: 6,573,320 (GRCm39)	C110Y	probably damaging	Het
Or7g35	A	T	9: 19,495,886 (GRCm39)	T18S	possibly damaging	Het
Patl2	A	T	2: 121,959,410 (GRCm39)	V18D	possibly damaging	Het
Pkn1	T	C	8: 84,410,055 (GRCm39)	S395G	probably damaging	Het
Ptprm	A	G	17: 67,219,413 (GRCm39)	I726T	possibly damaging	Het
Rab3gap2	T	C	1: 184,968,209 (GRCm39)	L187P	probably damaging	Het
Ric1	A	T	19: 29,563,182 (GRCm39)	E535V	probably damaging	Het
Ripor3	T	C	2: 167,827,657 (GRCm39)	K598R	probably benign	Het
Rnf40	A	G	7: 127,195,495 (GRCm39)	E607G	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sbsn	A	G	7: 30,452,616 (GRCm39)	T544A	probably benign	Het
Scaf1	C	A	7: 44,657,253 (GRCm39)		probably benign	Het
Sec24a	T	C	11: 51,591,643 (GRCm39)	M1018V	probably benign	Het
Shmt1	C	T	11: 60,695,153 (GRCm39)	A54T	probably damaging	Het
Slc39a14	C	A	14: 70,546,275 (GRCm39)	V383F	probably damaging	Het
Slc5a2	A	G	7: 127,871,249 (GRCm39)	T346A	probably benign	Het
Slco4a1	G	A	2: 180,106,601 (GRCm39)	S261N	probably benign	Het
Smarcc1	C	G	9: 110,025,388 (GRCm39)	S688R	probably damaging	Het
Sptb	A	T	12: 76,654,781 (GRCm39)	V1513E	probably damaging	Het
Stx17	A	T	4: 48,140,462 (GRCm39)	I56F	probably damaging	Het
Tbc1d9	A	G	8: 83,968,171 (GRCm39)	Y424C	probably damaging	Het
Tgm3	A	G	2: 129,883,949 (GRCm39)	K536E	probably benign	Het
Tti2	A	G	8: 31,644,329 (GRCm39)	I309V	possibly damaging	Het
Tymp	G	A	15: 89,258,251 (GRCm39)	S334L	probably benign	Het
Unc13b	T	C	4: 43,263,538 (GRCm39)	F1587L	possibly damaging	Het
Vgf	G	T	5: 137,060,507 (GRCm39)		probably benign	Het
Zfp59	T	C	7: 27,552,922 (GRCm39)	S125P	probably damaging	Het
Zfp641	A	T	15: 98,188,448 (GRCm39)	M144K	possibly damaging	Het
Zfp93	A	T	7: 23,974,806 (GRCm39)	K264*	probably null	Het

Other mutations in Sppl2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Sppl2b	APN	10	80,699,928 (GRCm39)	missense	probably damaging	1.00
IGL01835:Sppl2b	APN	10	80,701,175 (GRCm39)	missense	probably damaging	0.99
IGL01836:Sppl2b	APN	10	80,697,220 (GRCm39)	missense	probably benign	0.00
IGL01964:Sppl2b	APN	10	80,701,220 (GRCm39)	critical splice donor site	probably null
IGL02376:Sppl2b	APN	10	80,703,432 (GRCm39)	nonsense	probably null
R1641:Sppl2b	UTSW	10	80,700,965 (GRCm39)	missense	probably damaging	0.96
R2228:Sppl2b	UTSW	10	80,701,451 (GRCm39)	missense	probably damaging	1.00
R3104:Sppl2b	UTSW	10	80,703,325 (GRCm39)	missense	probably benign	0.00
R3106:Sppl2b	UTSW	10	80,703,325 (GRCm39)	missense	probably benign	0.00
R4350:Sppl2b	UTSW	10	80,698,560 (GRCm39)	missense	probably benign	0.12
R5146:Sppl2b	UTSW	10	80,703,474 (GRCm39)	makesense	probably null
R5698:Sppl2b	UTSW	10	80,701,879 (GRCm39)	splice site	probably null
R7649:Sppl2b	UTSW	10	80,703,253 (GRCm39)	missense	probably benign	0.02
R8212:Sppl2b	UTSW	10	80,701,193 (GRCm39)	missense	probably damaging	1.00
R8263:Sppl2b	UTSW	10	80,701,903 (GRCm39)	frame shift	probably null
R8265:Sppl2b	UTSW	10	80,701,903 (GRCm39)	frame shift	probably null
R8367:Sppl2b	UTSW	10	80,699,025 (GRCm39)	missense	probably benign	0.02
R8398:Sppl2b	UTSW	10	80,701,903 (GRCm39)	frame shift	probably null
R8398:Sppl2b	UTSW	10	80,701,902 (GRCm39)	frame shift	probably null
R8400:Sppl2b	UTSW	10	80,701,903 (GRCm39)	frame shift	probably null
R8480:Sppl2b	UTSW	10	80,701,903 (GRCm39)	frame shift	probably null
R8481:Sppl2b	UTSW	10	80,701,903 (GRCm39)	frame shift	probably null
R8505:Sppl2b	UTSW	10	80,701,903 (GRCm39)	frame shift	probably null
R8817:Sppl2b	UTSW	10	80,701,903 (GRCm39)	frame shift	probably null
R8818:Sppl2b	UTSW	10	80,701,903 (GRCm39)	frame shift	probably null
R8832:Sppl2b	UTSW	10	80,701,903 (GRCm39)	frame shift	probably null
R9175:Sppl2b	UTSW	10	80,698,807 (GRCm39)	missense	probably benign
R9624:Sppl2b	UTSW	10	80,699,373 (GRCm39)	missense	probably benign	0.03
Z1176:Sppl2b	UTSW	10	80,703,259 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TGCTTGAAGCCATGCTGTG -3'
(R):5'- CGTAGATGAAGAGCACCAGC -3'

Sequencing Primer
(F):5'- CCATGCTGTGGTCCATGCTG -3'
(R):5'- GAGCACCAGCAGCAGCAG -3'

Posted On

2018-11-28