Mutagenetix > Incidental Mutation

Incidental Mutation 'R8818:Sppl2b'

672874

Institutional Source

Beutler Lab

Gene Symbol

Sppl2b

Ensembl Gene

ENSMUSG00000035206

Gene Name

signal peptide peptidase like 2B

Synonyms

3110056O03Rik

MMRRC Submission

068651-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R8818 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

80691109-80704542 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TGTCACAGGT to TGT at 80701903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036289 (fasta)

Gene Model

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

AlphaFold

Q3TD49

Predicted Effect

probably null
Transcript: ENSMUST00000035597

SMART Domains

Protein: ENSMUSP00000036289
Gene: ENSMUSG00000035206

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 null
Transcript: ENSMUST00000218789

Predicted Effect

probably benign
Transcript: ENSMUST00000219614

Predicted Effect

probably null
Transcript: ENSMUST00000219951

Predicted Effect

probably null
Transcript: ENSMUST00000220091

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (55/56)

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. 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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	T	7: 119,815,524 (GRCm39)	M257I	probably benign	Het
Adam23	T	C	1: 63,584,627 (GRCm39)	V345A	probably damaging	Het
Anxa6	T	G	11: 54,902,578 (GRCm39)	N52T	possibly damaging	Het
Arhgef15	G	A	11: 68,841,938 (GRCm39)	H496Y	probably damaging	Het
Atp2a3	A	G	11: 72,872,765 (GRCm39)	E771G	probably damaging	Het
B3gnt5	A	G	16: 19,588,347 (GRCm39)	T189A	possibly damaging	Het
Becn1	A	T	11: 101,186,230 (GRCm39)	S125T	probably damaging	Het
Bltp1	T	G	3: 37,050,697 (GRCm39)	M3011R	possibly damaging	Het
Ccdc180	A	G	4: 45,900,484 (GRCm39)	M283V	probably benign	Het
Cdh17	T	C	4: 11,771,323 (GRCm39)	F35S	probably damaging	Het
Clcn1	T	A	6: 42,282,477 (GRCm39)	I515N	probably damaging	Het
Cyp4f17	A	G	17: 32,743,068 (GRCm39)	Y247C	probably damaging	Het
Dcp1a	T	A	14: 30,240,899 (GRCm39)	H236Q	possibly damaging	Het
Dnah11	T	A	12: 117,874,764 (GRCm39)	N4034Y	probably damaging	Het
Dsg1a	A	G	18: 20,473,599 (GRCm39)	I891V	possibly damaging	Het
Eid3	A	G	10: 82,703,441 (GRCm39)	N301D	probably damaging	Het
Fbrs	C	A	7: 127,078,694 (GRCm39)	D108E	unknown	Het
Fbxw14	A	C	9: 109,116,071 (GRCm39)		probably benign	Het
Fzd8	A	G	18: 9,214,474 (GRCm39)	T519A	probably benign	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Gpr3	C	A	4: 132,938,538 (GRCm39)	V45L	possibly damaging	Het
Gramd1b	A	T	9: 40,215,780 (GRCm39)	I690K	probably benign	Het
Grhl2	T	A	15: 37,270,912 (GRCm39)	D33E	probably damaging	Het
Kcnj4	C	A	15: 79,369,920 (GRCm39)	R20L	probably damaging	Het
Klhl5	A	G	5: 65,305,989 (GRCm39)	I319V	probably benign	Het
Lars2	A	T	9: 123,221,892 (GRCm39)	E135D	possibly damaging	Het
Map9	T	A	3: 82,291,270 (GRCm39)	Y602N	possibly damaging	Het
Mphosph9	A	T	5: 124,463,027 (GRCm39)	L6*	probably null	Het
Naa35	C	T	13: 59,748,761 (GRCm39)	T131M	probably damaging	Het
Nucb2	T	A	7: 116,121,136 (GRCm39)	L22Q	possibly damaging	Het
Or8g26	A	G	9: 39,096,062 (GRCm39)	Y193C	probably damaging	Het
Or8k28	C	A	2: 86,286,078 (GRCm39)	C179F	probably damaging	Het
Pcdhb6	C	T	18: 37,468,837 (GRCm39)	T586I	probably benign	Het
Ppcs	A	T	4: 119,279,330 (GRCm39)	L74Q	probably damaging	Het
Ppp6r3	A	T	19: 3,517,216 (GRCm39)	V677D	probably benign	Het
Psg27	C	T	7: 18,294,337 (GRCm39)	G357S	probably damaging	Het
Ptgdr2	A	G	19: 10,918,380 (GRCm39)	N299S	probably damaging	Het
Relb	T	A	7: 19,353,762 (GRCm39)	I39F	probably damaging	Het
Ripor2	T	A	13: 24,901,651 (GRCm39)	S907R	possibly damaging	Het
Rnf170	T	G	8: 26,629,043 (GRCm39)	D172E	probably benign	Het
Rnf31	C	A	14: 55,832,396 (GRCm39)	Q273K	probably benign	Het
Rrp36	A	T	17: 46,983,336 (GRCm39)	S93T	probably damaging	Het
Rsad1	A	T	11: 94,439,100 (GRCm39)	V120D	probably benign	Het
Ryr3	C	T	2: 112,661,441 (GRCm39)	A1870T	probably damaging	Het
Serpina10	T	G	12: 103,595,063 (GRCm39)	D52A	probably benign	Het
Slc47a1	A	G	11: 61,261,055 (GRCm39)	I115T	probably benign	Het
Spag17	T	A	3: 99,920,543 (GRCm39)	M426K	probably benign	Het
Sptbn4	T	G	7: 27,063,592 (GRCm39)	E2283A	possibly damaging	Het
Top3a	A	G	11: 60,633,877 (GRCm39)	C740R	probably damaging	Het
Tpgs2	A	T	18: 25,291,365 (GRCm39)	V33E	probably damaging	Het
Treh	T	C	9: 44,592,823 (GRCm39)	I116T	probably damaging	Het
Trpm3	A	T	19: 22,955,952 (GRCm39)	N1138I	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vamp9	A	T	5: 100,089,094 (GRCm39)	N120Y	probably damaging	Het
Zswim9	G	T	7: 12,994,456 (GRCm39)	Q567K	probably benign	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
R6969:Sppl2b	UTSW	10	80,700,959 (GRCm39)	missense	probably damaging	1.00
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
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'- ATGTGCATGCCCATTGTCAC -3'
(R):5'- CTTGGGCCAGACACTCAACTAC -3'

Sequencing Primer
(F):5'- ATTGTCACCATCCACCTGGCAG -3'
(R):5'- GGGCCAGACACTCAACTACTCAAG -3'

Posted On

2021-04-30