Mutagenetix > Incidental Mutation

Incidental Mutation 'R8263:Sppl2b'

639800

Institutional Source

Beutler Lab

Gene Symbol

Sppl2b

Ensembl Gene

ENSMUSG00000035206

Gene Name

signal peptide peptidase like 2B

Synonyms

3110056O03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.854) question?

Stock #

R8263 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

80855275-80868708 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

TGTCACAGGT to TGT at 80866069 bp (GRCm38)

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: 99.6%
20x: 98.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095N17Rik	T	A	1: 75,232,039	R12S	unknown	Het
Ankrd10	C	T	8: 11,615,707	V298I	probably benign	Het
Atg4d	T	A	9: 21,267,039	M151K	probably damaging	Het
Casp8ap2	T	A	4: 32,644,072	H1048Q	probably damaging	Het
Cd300ld2	A	G	11: 115,012,366	S218P	unknown	Het
Clec3a	T	C	8: 114,425,629	V125A	probably benign	Het
Cnot6	A	T	11: 49,682,175	Y241N	probably damaging	Het
Dnah1	A	T	14: 31,293,177	F1686Y	probably damaging	Het
Dnah12	A	G	14: 26,891,464	K1285E	noncoding transcript	Het
Dopey2	T	C	16: 93,762,195	S610P	possibly damaging	Het
Ehhadh	A	T	16: 21,773,545	L136H	probably damaging	Het
Epha7	A	G	4: 28,821,149	T105A	probably damaging	Het
Etl4	A	T	2: 20,744,154	E434D	probably benign	Het
Fam208b	C	T	13: 3,575,286	V1555I	possibly damaging	Het
Fam208b	G	T	13: 3,590,016	P374T	probably benign	Het
Fam26e	C	A	10: 34,096,196	C81F	probably damaging	Het
Fastkd2	T	C	1: 63,731,809	V108A	probably benign	Het
Fat2	G	A	11: 55,284,136	T1917I	probably benign	Het
Fbxo45	A	G	16: 32,246,715	S33P	unknown	Het
Fig4	A	T	10: 41,267,715	Y249*	probably null	Het
Fryl	T	C	5: 73,081,005	Y1466C	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Glod4	T	C	11: 76,234,492	D147G	possibly damaging	Het
Gm12695	T	G	4: 96,762,809	M136L	probably benign	Het
Gm5422	A	G	10: 31,249,103	T313A	noncoding transcript	Het
Hydin	C	A	8: 110,452,073	A1100D	probably benign	Het
Ift172	G	A	5: 31,265,337	A923V	possibly damaging	Het
Irgc1	G	A	7: 24,432,682	H237Y	probably damaging	Het
Itga11	T	C	9: 62,696,980	I50T	possibly damaging	Het
Itpr3	C	T	17: 27,115,913	Q2134*	probably null	Het
Kat8	A	T	7: 127,924,481	D292V	possibly damaging	Het
Kdm2a	A	G	19: 4,324,364	M913T	possibly damaging	Het
Larp4	T	C	15: 99,986,080	V66A	probably benign	Het
Loxhd1	A	G	18: 77,375,162	D899G	probably damaging	Het
Lrrc47	G	T	4: 154,016,029	R354L	probably damaging	Het
Lss	C	T	10: 76,531,905	R24C	probably damaging	Het
Mmp14	C	T	14: 54,435,787	R51C	probably damaging	Het
Mon1a	C	T	9: 107,898,794	T37I	probably benign	Het
Nacc2	A	C	2: 26,062,228	V372G	probably damaging	Het
Ncapg	T	C	5: 45,691,792	V690A	probably benign	Het
Nhej1	A	G	1: 74,967,737	L152P	probably damaging	Het
Nol4l	A	T	2: 153,417,417	S522R	probably damaging	Het
Nr0b2	A	G	4: 133,553,930	Y169C	probably damaging	Het
Numa1	A	G	7: 101,999,284	M741V	probably benign	Het
Olfr149	A	G	9: 39,702,157	M204T	possibly damaging	Het
Olfr945	A	G	9: 39,258,603	L26P	probably damaging	Het
Pebp1	C	A	5: 117,287,408		probably null	Het
Pik3ip1	A	T	11: 3,341,581	I217F	probably damaging	Het
Plekhg1	T	A	10: 3,957,651	I911N		Het
Pnpla8	T	C	12: 44,296,063	I534T	probably damaging	Het
Ppp2r2a	A	T	14: 67,023,756	F172I	probably damaging	Het
Rab7	C	T	6: 88,012,310	M59I	probably benign	Het
Rbm34	T	C	8: 126,965,389	N201S	probably benign	Het
Rfx1	G	T	8: 84,094,854	R764L	probably damaging	Het
Rnase12	T	A	14: 51,057,123	D33V	probably damaging	Het
Rnf121	A	G	7: 102,035,325	L127P	probably damaging	Het
Rtl1	C	A	12: 109,593,746	R553L	probably damaging	Het
Scn8a	T	C	15: 100,983,855	L601P	probably damaging	Het
Scyl2	G	T	10: 89,640,663	Q867K	possibly damaging	Het
Sgtb	T	C	13: 104,132,184	F213L	probably benign	Het
Slc35f4	A	G	14: 49,313,627	V260A	probably damaging	Het
Slfn14	A	G	11: 83,283,473	Y231H	possibly damaging	Het
Soga1	A	G	2: 157,027,590	W1042R	possibly damaging	Het
Stard13	G	A	5: 151,233,641	A25V	possibly damaging	Het
Stk38	C	T	17: 28,984,187	R135H	probably damaging	Het
Svil	A	G	18: 5,108,679	D1939G	probably damaging	Het
Tbc1d7	A	G	13: 43,169,864	V17A	possibly damaging	Het
Trpc4	T	C	3: 54,222,335	V174A	probably damaging	Het
Ttn	G	T	2: 76,788,684	T16117K	probably damaging	Het
Tubb3	T	A	8: 123,421,129	M267K	possibly damaging	Het
Upk1b	T	C	16: 38,784,223	T147A	probably damaging	Het
Vmn2r107	G	T	17: 20,360,352	C517F	probably damaging	Het
Vmn2r112	A	G	17: 22,605,159	D465G	probably damaging	Het
Vmn2r73	A	T	7: 85,858,411	H564Q	probably benign	Het
Vmn2r79	A	G	7: 87,037,518	I702M	possibly damaging	Het
Vmn2r84	A	G	10: 130,391,168	V267A	probably damaging	Het
Zfp445	T	C	9: 122,852,813	I688V	probably benign	Het
Zfp955a	C	T	17: 33,244,113	V15M	probably damaging	Het
Zfp960	T	A	17: 17,087,940	C305*	probably null	Het
Zfp964	A	G	8: 69,663,695	D315G	possibly damaging	Het
Zmynd10	T	A	9: 107,549,317	I183K	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
IGL02376:Sppl2b	APN	10	80867598	nonsense	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
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

Predicted Primers

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

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

Posted On

2020-07-28