Mutagenetix > Incidental Mutation

Incidental Mutation 'R5698:Sppl2b'

450801

Institutional Source

Beutler Lab

Gene Symbol

Sppl2b

Ensembl Gene

ENSMUSG00000035206

Gene Name

signal peptide peptidase like 2B

Synonyms

3110056O03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R5698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80691109-80704542 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 80701879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151737 (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

noncoding transcript
Transcript: ENSMUST00000217714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218727

Predicted Effect

probably null
Transcript: ENSMUST00000218789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219136

Predicted Effect

probably null
Transcript: ENSMUST00000219951

Predicted Effect

probably null
Transcript: ENSMUST00000220091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219366

Predicted Effect

probably benign
Transcript: ENSMUST00000219614

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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
4930556J24Rik	A	G	11: 3,926,366 (GRCm39)	K334E	possibly damaging	Het
Ache	G	A	5: 137,288,821 (GRCm39)	V176M	probably damaging	Het
Acss3	T	C	10: 106,784,605 (GRCm39)	D539G	probably damaging	Het
Adam6b	T	A	12: 113,455,083 (GRCm39)	D633E	probably benign	Het
Aldh16a1	G	A	7: 44,803,831 (GRCm39)		probably benign	Het
Amigo2	G	A	15: 97,143,607 (GRCm39)	Q272*	probably null	Het
Aoc1l1	A	G	6: 48,953,256 (GRCm39)	T394A	possibly damaging	Het
Appbp2	A	T	11: 85,100,925 (GRCm39)	H171Q	probably damaging	Het
Arhgef18	A	G	8: 3,489,499 (GRCm39)	D277G	probably damaging	Het
Armc8	A	G	9: 99,417,873 (GRCm39)	V95A	probably benign	Het
Atp6v0a4	C	T	6: 38,027,442 (GRCm39)		probably null	Het
Atp8a1	A	T	5: 67,924,496 (GRCm39)	N289K	probably benign	Het
Cand2	C	T	6: 115,768,704 (GRCm39)	L505F	probably damaging	Het
Ccnt2	A	G	1: 127,730,965 (GRCm39)	K614R	probably benign	Het
Col25a1	A	G	3: 130,272,632 (GRCm39)		probably null	Het
Copa	T	A	1: 171,946,511 (GRCm39)	L976*	probably null	Het
Ddx39b	T	C	17: 35,470,287 (GRCm39)	V267A	probably benign	Het
Dpp4	T	A	2: 62,164,655 (GRCm39)	Q709L	probably damaging	Het
Eno4	A	G	19: 58,956,904 (GRCm39)		probably null	Het
Exoc3	A	G	13: 74,322,134 (GRCm39)	L647P	probably benign	Het
Eya4	T	C	10: 23,015,975 (GRCm39)	S308G	possibly damaging	Het
Fbxo41	T	C	6: 85,454,638 (GRCm39)	T693A	possibly damaging	Het
Fcgbp	A	G	7: 27,791,447 (GRCm39)	T903A	possibly damaging	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Frem2	A	G	3: 53,559,926 (GRCm39)	I1527T	possibly damaging	Het
H13	T	A	2: 152,530,875 (GRCm39)	I220N	probably damaging	Het
Has2	T	C	15: 56,531,312 (GRCm39)	R468G	probably damaging	Het
Ighmbp2	A	G	19: 3,324,538 (GRCm39)	S243P	probably damaging	Het
Irs1	T	C	1: 82,266,455 (GRCm39)	H587R	probably benign	Het
Kcnk1	C	T	8: 126,752,144 (GRCm39)	T250M	probably damaging	Het
Kif9	T	C	9: 110,339,532 (GRCm39)	V458A	probably benign	Het
Krt14	T	C	11: 100,096,451 (GRCm39)	T208A	probably benign	Het
Mybpc3	C	A	2: 90,955,194 (GRCm39)	H349Q	possibly damaging	Het
Neurl3	T	A	1: 36,305,587 (GRCm39)	T207S	possibly damaging	Het
Nol9	T	C	4: 152,135,031 (GRCm39)	V388A	probably damaging	Het
Notch3	T	C	17: 32,376,961 (GRCm39)	N315D	probably damaging	Het
Oas1h	G	T	5: 121,009,045 (GRCm39)	A252S	probably damaging	Het
Or13c7b	C	A	4: 43,821,183 (GRCm39)	M59I	probably damaging	Het
Pcbp1	G	A	6: 86,502,134 (GRCm39)	T255M	possibly damaging	Het
Plec	A	G	15: 76,083,808 (GRCm39)	V18A	probably benign	Het
Ppp1r17	A	T	6: 56,003,529 (GRCm39)	E114V	probably damaging	Het
Scamp5	A	T	9: 57,352,716 (GRCm39)	M151K	possibly damaging	Het
Sestd1	T	C	2: 77,048,512 (GRCm39)	Y135C	possibly damaging	Het
Slc22a21	T	G	11: 53,842,175 (GRCm39)	K534N	probably benign	Het
Slc25a12	T	C	2: 71,112,917 (GRCm39)	E448G	probably damaging	Het
Slco3a1	A	G	7: 73,996,566 (GRCm39)	L280P	probably damaging	Het
Srd5a2	T	C	17: 74,334,014 (GRCm39)	E135G	possibly damaging	Het
Tfg	A	T	16: 56,521,467 (GRCm39)	M183K	probably damaging	Het
Ticrr	G	A	7: 79,328,881 (GRCm39)	M673I	probably benign	Het
Tm4sf20	T	G	1: 82,745,958 (GRCm39)	M61L	probably benign	Het
Ttll8	A	T	15: 88,823,209 (GRCm39)	S85T	possibly damaging	Het
Uggt2	G	A	14: 119,280,138 (GRCm39)	S780F	probably damaging	Het
Uroc1	T	C	6: 90,324,302 (GRCm39)	L442P	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly damaging	Het
Znrf3	A	G	11: 5,239,006 (GRCm39)		probably benign	Het
Zswim2	C	A	2: 83,755,527 (GRCm39)	D125Y	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGCATGCCCATTGTCAC -3'
(R):5'- TTGGGCCAGACACTCAACTAC -3'

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

Posted On

2017-01-03