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: 0.893) question?

Stock #

IGL02376

Quality Score

Status

Chromosome

Chromosomal Location

80691109-80704542 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 80703432 bp (GRCm39)

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: ENSMUST00000220091

Predicted Effect

probably benign
Transcript: ENSMUST00000219951

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
Abtb1	A	G	6: 88,815,466 (GRCm39)		probably benign	Het
Adcy3	G	A	12: 4,251,031 (GRCm39)	E597K	possibly damaging	Het
Adcy9	A	G	16: 4,236,544 (GRCm39)	V289A	probably benign	Het
Akr1d1	A	T	6: 37,507,220 (GRCm39)	D14V	probably damaging	Het
Ankrd12	T	C	17: 66,349,524 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,111,506 (GRCm39)	T1137A	possibly damaging	Het
Arhgef4	A	T	1: 34,845,140 (GRCm39)	Q77L	probably damaging	Het
Arhgef7	A	G	8: 11,867,735 (GRCm39)	T444A	probably damaging	Het
Arr3	A	C	X: 99,658,281 (GRCm39)	K281Q	probably damaging	Het
Arrdc2	A	T	8: 71,291,623 (GRCm39)	I114N	probably benign	Het
Atg2b	A	T	12: 105,611,727 (GRCm39)	F1217Y	probably damaging	Het
C1qtnf1	A	C	11: 118,338,894 (GRCm39)	Y188S	probably benign	Het
Cbx6	C	A	15: 79,712,500 (GRCm39)	R309L	probably benign	Het
Cfap410	A	G	10: 77,820,388 (GRCm39)		probably benign	Het
Chrna9	T	C	5: 66,128,502 (GRCm39)	S237P	probably damaging	Het
Dapk1	G	A	13: 60,844,208 (GRCm39)	V76I	probably benign	Het
Elk4	T	A	1: 131,942,288 (GRCm39)	N53K	probably benign	Het
Epha7	A	C	4: 28,951,287 (GRCm39)	T799P	probably damaging	Het
Exosc2	G	A	2: 31,569,887 (GRCm39)	V233M	possibly damaging	Het
Fam217b	A	G	2: 178,059,366 (GRCm39)	D3G	probably benign	Het
Farp1	T	A	14: 121,510,268 (GRCm39)	N755K	probably damaging	Het
Fer	A	G	17: 64,241,341 (GRCm39)	E327G	possibly damaging	Het
Fmnl3	A	T	15: 99,216,844 (GRCm39)	F1017Y	possibly damaging	Het
Gabbr2	A	C	4: 46,684,300 (GRCm39)	I658S	probably damaging	Het
Gemin2	A	G	12: 59,068,506 (GRCm39)	D195G	probably benign	Het
Gtf3c1	T	A	7: 125,268,168 (GRCm39)	Y875F	probably benign	Het
Hnrnpr	G	A	4: 136,046,766 (GRCm39)	G149D	probably damaging	Het
Krt74	A	C	15: 101,662,938 (GRCm39)		noncoding transcript	Het
Ltf	A	G	9: 110,858,692 (GRCm39)	D480G	probably benign	Het
Map1b	A	G	13: 99,572,103 (GRCm39)	L206P	probably damaging	Het
Meis1	T	C	11: 18,831,752 (GRCm39)	M429V	probably benign	Het
Myh4	C	A	11: 67,136,554 (GRCm39)	T444N	probably benign	Het
Nckap1l	A	T	15: 103,379,658 (GRCm39)	Y315F	possibly damaging	Het
Ndst3	A	G	3: 123,350,447 (GRCm39)	I646T	probably damaging	Het
Ndufv1	T	C	19: 4,057,823 (GRCm39)		probably null	Het
Ogdhl	T	C	14: 32,065,275 (GRCm39)	Y710H	probably damaging	Het
Or4c52	A	G	2: 89,845,804 (GRCm39)	I177V	probably benign	Het
Otud7b	A	G	3: 96,062,354 (GRCm39)	K531R	possibly damaging	Het
Pax3	T	C	1: 78,108,929 (GRCm39)	Y243C	probably damaging	Het
Pde1a	A	G	2: 79,705,567 (GRCm39)		probably benign	Het
Pik3cb	C	T	9: 98,934,405 (GRCm39)	M813I	probably benign	Het
Prss42	A	T	9: 110,632,175 (GRCm39)	D302V	possibly damaging	Het
Rad52	T	C	6: 119,892,191 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,285,789 (GRCm39)	Y393*	probably null	Het
Rhbdd3	T	C	11: 5,053,192 (GRCm39)		probably benign	Het
Sbf2	C	T	7: 110,062,163 (GRCm39)	G138D	probably damaging	Het
Slco1a1	A	T	6: 141,870,060 (GRCm39)		probably null	Het
Smg9	A	G	7: 24,114,455 (GRCm39)	I265V	probably benign	Het
Stx6	T	A	1: 155,077,725 (GRCm39)	V244D	probably benign	Het
Tle4	T	C	19: 14,571,768 (GRCm39)	N78D	probably damaging	Het
Tmcc3	A	G	10: 94,414,429 (GRCm39)	I44V	possibly damaging	Het
Tnnt3	C	T	7: 142,066,295 (GRCm39)	T220I	possibly damaging	Het
Ttn	A	T	2: 76,557,811 (GRCm39)	D29798E	possibly damaging	Het
Vtcn1	A	T	3: 100,799,981 (GRCm39)	M281L	probably benign	Het
Zfp595	T	C	13: 67,464,514 (GRCm39)	K586R	possibly damaging	Het
Zfta	C	T	19: 7,399,741 (GRCm39)	P496L	probably damaging	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
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
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

Posted On

2015-04-16