Mutagenetix > Incidental Mutation

Incidental Mutation 'R2228:Sppl2b'

239867

Institutional Source

Beutler Lab

Gene Symbol

Sppl2b

Ensembl Gene

ENSMUSG00000035206

Gene Name

signal peptide peptidase like 2B

Synonyms

3110056O03Rik

MMRRC Submission

040229-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R2228 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80691109-80704542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80701451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 389 (V389M)

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: V389M

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

SMART Domains

Protein: ENSMUSP00000036289
Gene: ENSMUSG00000035206
AA Change: V389M

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 benign
Transcript: ENSMUST00000218789
AA Change: V258M

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219136

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219951
AA Change: V134M

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219366

Predicted Effect

probably benign
Transcript: ENSMUST00000220091

Predicted Effect

probably benign
Transcript: ENSMUST00000219614

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,559,935 (GRCm39)	T242A	probably benign	Het
Adam24	A	T	8: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Aldh3b2	C	T	19: 4,031,133 (GRCm39)	P461S	probably benign	Het
Araf	T	C	X: 20,717,912 (GRCm39)	F144L	probably benign	Het
Atp11b	G	T	3: 35,861,091 (GRCm39)	D193Y	probably damaging	Het
Atp6v1b2	C	A	8: 69,555,411 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,215,624 (GRCm39)		probably benign	Het
Cadps	A	G	14: 12,465,935 (GRCm38)	Y987H	probably benign	Het
Capn6	T	G	X: 142,587,785 (GRCm39)	T498P	possibly damaging	Het
Ccdc153	T	A	9: 44,154,314 (GRCm39)	L47Q	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm39)		probably null	Het
Cep162	G	T	9: 87,126,384 (GRCm39)	T176K	probably benign	Het
Cpsf2	A	G	12: 101,956,088 (GRCm39)	D297G	probably benign	Het
Entpd8	T	C	2: 24,975,028 (GRCm39)	M453T	probably damaging	Het
Eprs1	T	A	1: 185,099,734 (GRCm39)	L18Q	probably damaging	Het
Fem1b	G	T	9: 62,704,020 (GRCm39)	C413*	probably null	Het
Flrt1	T	A	19: 7,072,723 (GRCm39)	D608V	probably damaging	Het
Fstl5	C	A	3: 76,389,659 (GRCm39)	N285K	probably damaging	Het
Golga1	T	C	2: 38,913,183 (GRCm39)	D543G	probably benign	Het
Hivep2	A	G	10: 14,004,107 (GRCm39)	H235R	probably damaging	Het
Htr2c	G	C	X: 145,977,186 (GRCm39)	W325C	probably damaging	Het
Htr2c	G	T	X: 145,977,188 (GRCm39)	C326F	probably damaging	Het
Ifit1bl2	G	T	19: 34,596,630 (GRCm39)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,244,792 (GRCm39)	S920P	probably damaging	Het
Macroh2a1	C	T	13: 56,232,075 (GRCm39)	G235S	probably damaging	Het
Mcm8	T	A	2: 132,662,041 (GRCm39)	I125K	possibly damaging	Het
Micall1	C	T	15: 79,014,036 (GRCm39)	R644W	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo9a	A	G	9: 59,801,463 (GRCm39)	E1887G	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm39)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,364,361 (GRCm39)		probably null	Het
Neb	T	C	2: 52,123,007 (GRCm39)	R3734G	probably benign	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Or5bw2	A	T	7: 6,573,802 (GRCm39)	M271L	probably benign	Het
P2ry4	A	G	X: 99,637,553 (GRCm39)	L115P	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r26	T	C	2: 28,343,798 (GRCm39)	F1143L	possibly damaging	Het
Ppp1r3c	C	A	19: 36,711,098 (GRCm39)	R224L	probably benign	Het
Ptafr	T	G	4: 132,306,691 (GRCm39)	I27R	possibly damaging	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Reln	A	G	5: 22,192,076 (GRCm39)	F1455L	possibly damaging	Het
Rufy1	C	T	11: 50,288,611 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,376,910 (GRCm39)	H117R	probably benign	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Sipa1l3	T	A	7: 29,077,364 (GRCm39)	K803*	probably null	Het
Smim23	C	A	11: 32,771,870 (GRCm39)	Q65H	probably damaging	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Srbd1	T	C	17: 86,292,651 (GRCm39)	I973V	probably damaging	Het
Ssx2ip	C	T	3: 146,123,531 (GRCm39)	P10L	probably damaging	Het
Taf2	A	C	15: 54,928,042 (GRCm39)	D120E	possibly damaging	Het
Tanc1	T	C	2: 59,555,068 (GRCm39)	L42S	probably benign	Het
Tex15	C	A	8: 34,061,265 (GRCm39)	H232N	probably benign	Het
Tg	A	T	15: 66,545,860 (GRCm39)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,198,513 (GRCm39)		probably null	Het
Tro	A	T	X: 149,438,477 (GRCm39)	M60K	probably benign	Het
Ttc38	G	A	15: 85,728,704 (GRCm39)	V219I	probably benign	Het
U2af2	T	C	7: 5,078,672 (GRCm39)	I417T	probably damaging	Het
Ube2r2	C	T	4: 41,174,044 (GRCm39)	H61Y	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r113	C	T	7: 20,521,832 (GRCm39)	S208F	probably damaging	Het
Wdr35	A	G	12: 9,024,955 (GRCm39)	K16E	possibly damaging	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc4	A	C	5: 143,306,162 (GRCm39)	W189G	probably damaging	Het
Zfp512	A	T	5: 31,622,919 (GRCm39)	K73N	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
IGL02376:Sppl2b	APN	10	80,703,432 (GRCm39)	nonsense	probably null
R1641:Sppl2b	UTSW	10	80,700,965 (GRCm39)	missense	probably damaging	0.96
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

Predicted Primers

PCR Primer
(F):5'- CCTTTCTTGTGCAGAGTGGC -3'
(R):5'- AGGTGTGGCCATACAATAGTCATG -3'

Sequencing Primer
(F):5'- ATCCACCCATGAGAAGGT -3'
(R):5'- ATAGTCATGCACTACCCGGGAG -3'

Posted On

2014-10-15