Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02376:Sppl2b'

291125

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sppl2b

Ensembl Gene

ENSMUSG00000035206

Gene Name

signal peptide peptidase like 2B

Synonyms

3110056O03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.854) question?

Stock #

IGL02376

Quality Score

Status

Chromosome

Chromosomal Location

80855275-80868708 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 80867598 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 565 (E565*)

Ref Sequence

ENSEMBL: ENSMUSP00000036289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035597] [ENSMUST00000219817] [ENSMUST00000220091]

AlphaFold

Q3TD49

Predicted Effect

probably null
Transcript: ENSMUST00000035597
AA Change: E565*

SMART Domains

Protein: ENSMUSP00000036289
Gene: ENSMUSG00000035206
AA Change: E565*

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 benign
Transcript: ENSMUST00000218789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219366

Predicted Effect

probably benign
Transcript: ENSMUST00000219614

Predicted Effect

probably benign
Transcript: ENSMUST00000219817

Predicted Effect

probably benign
Transcript: ENSMUST00000219951

Predicted Effect

probably benign
Transcript: ENSMUST00000220091

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	G	10: 77,984,554		probably benign	Het
2700081O15Rik	C	T	19: 7,422,376	P496L	probably damaging	Het
Abtb1	A	G	6: 88,838,484		probably benign	Het
Adcy3	G	A	12: 4,201,031	E597K	possibly damaging	Het
Adcy9	A	G	16: 4,418,680	V289A	probably benign	Het
Akr1d1	A	T	6: 37,530,285	D14V	probably damaging	Het
Ankrd12	T	C	17: 66,042,529		probably benign	Het
Arap3	T	C	18: 37,978,453	T1137A	possibly damaging	Het
Arhgef4	A	T	1: 34,806,059	Q77L	probably damaging	Het
Arhgef7	A	G	8: 11,817,735	T444A	probably damaging	Het
Arr3	A	C	X: 100,614,675	K281Q	probably damaging	Het
Arrdc2	A	T	8: 70,838,979	I114N	probably benign	Het
Atg2b	A	T	12: 105,645,468	F1217Y	probably damaging	Het
C1qtnf1	A	C	11: 118,448,068	Y188S	probably benign	Het
Cbx6	C	A	15: 79,828,299	R309L	probably benign	Het
Chrna9	T	C	5: 65,971,159	S237P	probably damaging	Het
Dapk1	G	A	13: 60,696,394	V76I	probably benign	Het
Elk4	T	A	1: 132,014,550	N53K	probably benign	Het
Epha7	A	C	4: 28,951,287	T799P	probably damaging	Het
Exosc2	G	A	2: 31,679,875	V233M	possibly damaging	Het
Fam217b	A	G	2: 178,417,573	D3G	probably benign	Het
Farp1	T	A	14: 121,272,856	N755K	probably damaging	Het
Fer	A	G	17: 63,934,346	E327G	possibly damaging	Het
Fmnl3	A	T	15: 99,318,963	F1017Y	possibly damaging	Het
Gabbr2	A	C	4: 46,684,300	I658S	probably damaging	Het
Gemin2	A	G	12: 59,021,720	D195G	probably benign	Het
Gtf3c1	T	A	7: 125,668,996	Y875F	probably benign	Het
Hnrnpr	G	A	4: 136,319,455	G149D	probably damaging	Het
Krt74	A	C	15: 101,754,503		noncoding transcript	Het
Ltf	A	G	9: 111,029,624	D480G	probably benign	Het
Map1b	A	G	13: 99,435,595	L206P	probably damaging	Het
Meis1	T	C	11: 18,881,752	M429V	probably benign	Het
Myh4	C	A	11: 67,245,728	T444N	probably benign	Het
Nckap1l	A	T	15: 103,471,231	Y315F	possibly damaging	Het
Ndst3	A	G	3: 123,556,798	I646T	probably damaging	Het
Ndufv1	T	C	19: 4,007,823		probably null	Het
Ogdhl	T	C	14: 32,343,318	Y710H	probably damaging	Het
Olfr1263	A	G	2: 90,015,460	I177V	probably benign	Het
Otud7b	A	G	3: 96,155,037	K531R	possibly damaging	Het
Pax3	T	C	1: 78,132,292	Y243C	probably damaging	Het
Pde1a	A	G	2: 79,875,223		probably benign	Het
Pik3cb	C	T	9: 99,052,352	M813I	probably benign	Het
Prss42	A	T	9: 110,803,107	D302V	possibly damaging	Het
Rad52	T	C	6: 119,915,230		probably benign	Het
Reln	A	T	5: 22,080,791	Y393*	probably null	Het
Rhbdd3	T	C	11: 5,103,192		probably benign	Het
Sbf2	C	T	7: 110,462,956	G138D	probably damaging	Het
Slco1a1	A	T	6: 141,924,334		probably null	Het
Smg9	A	G	7: 24,415,030	I265V	probably benign	Het
Stx6	T	A	1: 155,201,979	V244D	probably benign	Het
Tle4	T	C	19: 14,594,404	N78D	probably damaging	Het
Tmcc3	A	G	10: 94,578,567	I44V	possibly damaging	Het
Tnnt3	C	T	7: 142,512,558	T220I	possibly damaging	Het
Ttn	A	T	2: 76,727,467	D29798E	possibly damaging	Het
Vtcn1	A	T	3: 100,892,665	M281L	probably benign	Het
Zfp595	T	C	13: 67,316,450	K586R	possibly damaging	Het

Other mutations in Sppl2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Sppl2b	APN	10	80864094	missense	probably damaging	1.00
IGL01835:Sppl2b	APN	10	80865341	missense	probably damaging	0.99
IGL01836:Sppl2b	APN	10	80861386	missense	probably benign	0.00
IGL01964:Sppl2b	APN	10	80865386	critical splice donor site	probably null
R1641:Sppl2b	UTSW	10	80865131	missense	probably damaging	0.96
R2228:Sppl2b	UTSW	10	80865617	missense	probably damaging	1.00
R3104:Sppl2b	UTSW	10	80867491	missense	probably benign	0.00
R3106:Sppl2b	UTSW	10	80867491	missense	probably benign	0.00
R4350:Sppl2b	UTSW	10	80862726	missense	probably benign	0.12
R5146:Sppl2b	UTSW	10	80867640	makesense	probably null
R5698:Sppl2b	UTSW	10	80866045	splice site	probably null
R6969:Sppl2b	UTSW	10	80865125	missense	probably damaging	1.00
R7649:Sppl2b	UTSW	10	80867419	missense	probably benign	0.02
R8212:Sppl2b	UTSW	10	80865359	missense	probably damaging	1.00
R8263:Sppl2b	UTSW	10	80866069	frame shift	probably null
R8265:Sppl2b	UTSW	10	80866069	frame shift	probably null
R8367:Sppl2b	UTSW	10	80863191	missense	probably benign	0.02
R8398:Sppl2b	UTSW	10	80866068	frame shift	probably null
R8398:Sppl2b	UTSW	10	80866069	frame shift	probably null
R8400:Sppl2b	UTSW	10	80866069	frame shift	probably null
R8480:Sppl2b	UTSW	10	80866069	frame shift	probably null
R8481:Sppl2b	UTSW	10	80866069	frame shift	probably null
R8505:Sppl2b	UTSW	10	80866069	frame shift	probably null
R8817:Sppl2b	UTSW	10	80866069	frame shift	probably null
R8818:Sppl2b	UTSW	10	80866069	frame shift	probably null
R8832:Sppl2b	UTSW	10	80866069	frame shift	probably null
R9175:Sppl2b	UTSW	10	80862973	missense	probably benign
R9624:Sppl2b	UTSW	10	80863539	missense	probably benign	0.03
Z1176:Sppl2b	UTSW	10	80867425	missense	possibly damaging	0.56

Posted On

2015-04-16