Mutagenetix > Incidental Mutation

Incidental Mutation 'R5983:Spsb2'

481520

Institutional Source

Beutler Lab

Gene Symbol

Spsb2

Ensembl Gene

ENSMUSG00000038451

Gene Name

splA/ryanodine receptor domain and SOCS box containing 2

Synonyms

Grcc9, SSB2

MMRRC Submission

044164-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R5983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124785640-124787582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 124786711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 148 (E148A)

Ref Sequence

ENSEMBL: ENSMUSP00000118347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047760] [ENSMUST00000052727] [ENSMUST00000112473] [ENSMUST00000130160] [ENSMUST00000143040] [ENSMUST00000149610] [ENSMUST00000172132]

AlphaFold

O88838

Predicted Effect

probably benign
Transcript: ENSMUST00000047760
AA Change: E148A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041585
Gene: ENSMUSG00000038451
AA Change: E148A

Domain	Start	End	E-Value	Type
SPRY	86	220	9.85e-28	SMART
SOCS	219	264	7.93e-13	SMART
SOCS_box	225	264	8.27e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052727
AA Change: E148A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060124
Gene: ENSMUSG00000038451
AA Change: E148A

Domain	Start	End	E-Value	Type
SPRY	86	220	9.85e-28	SMART
SOCS	219	264	7.93e-13	SMART
SOCS_box	225	264	8.27e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112473
AA Change: E148A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108092
Gene: ENSMUSG00000038451
AA Change: E148A

Domain	Start	End	E-Value	Type
SPRY	86	220	9.85e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130160
AA Change: E148A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000122149
Gene: ENSMUSG00000038451
AA Change: E148A

Domain	Start	End	E-Value	Type
SPRY	86	208	1.1e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139716

Predicted Effect

probably benign
Transcript: ENSMUST00000143040
AA Change: E148A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451
AA Change: E148A

Domain	Start	End	E-Value	Type
SPRY	86	220	9.85e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204602

Predicted Effect

probably benign
Transcript: ENSMUST00000149610

SMART Domains

Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456

Domain	Start	End	E-Value	Type
Pfam:TIM	1	163	1.1e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172132

SMART Domains

Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456

Domain	Start	End	E-Value	Type
Pfam:TIM	57	295	9.2e-86	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (29/29)

MGI Phenotype

FUNCTION: This gene encodes a member of the SSB family of proteins that contain a central SPRY (repeats in splA and ryanodine receptors) domain and a C-terminal SOCS (suppressor of cytokine signaling) box. The encoded protein is an adaptor protein in the E3 ubiquitin ligase complex that ubiquitinates inducible nitric oxide synthase and targets it for proteasomal degradation. Mice lacking the encoded protein exhibit lower blood urea nitrogen levels and mild thrombocytopenia due to reduced platelet production. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice exhibit mild thrombocytopenia and decreased blood urea nitrogen levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,807,942 (GRCm39)	M861K	probably benign	Het
Abhd18	T	A	3: 40,864,979 (GRCm39)	F73L	probably damaging	Het
Abraxas1	A	G	5: 100,955,777 (GRCm39)	V237A	probably benign	Het
Adam26b	T	C	8: 43,974,378 (GRCm39)	Y208C	probably damaging	Het
Aire	A	G	10: 77,878,903 (GRCm39)	L48P	probably damaging	Het
Bach2	A	T	4: 32,563,324 (GRCm39)	E597V	probably damaging	Het
Ccdc170	A	T	10: 4,470,851 (GRCm39)	R232*	probably null	Het
Cfap100	A	C	6: 90,396,373 (GRCm39)		probably benign	Het
Dppa2	G	A	16: 48,136,204 (GRCm39)	M185I	probably benign	Het
Ecsit	C	T	9: 21,989,443 (GRCm39)		probably null	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Grm8	T	C	6: 27,760,220 (GRCm39)	K370R	probably benign	Het
Ide	C	T	19: 37,249,549 (GRCm39)		probably null	Het
Katnip	T	A	7: 125,449,545 (GRCm39)	W870R	probably damaging	Het
Morn3	T	C	5: 123,175,851 (GRCm39)	D179G	possibly damaging	Het
Nkapd1	A	G	9: 50,519,142 (GRCm39)	S157P	probably damaging	Het
Nvl	A	T	1: 180,964,471 (GRCm39)	D102E	probably benign	Het
Or5an10	T	A	19: 12,276,467 (GRCm39)	I10F	probably benign	Het
Rbm5	G	A	9: 107,622,141 (GRCm39)	P611L	probably damaging	Het
Rsph9	A	G	17: 46,440,406 (GRCm39)	M230T	probably benign	Het
Sacs	G	A	14: 61,442,648 (GRCm39)	V1565M	probably damaging	Het
Serpina3n	T	C	12: 104,375,288 (GRCm39)	L120P	probably damaging	Het
Tmc2	T	A	2: 130,089,896 (GRCm39)	M627K	probably damaging	Het
Tmem147	T	C	7: 30,427,484 (GRCm39)	D111G	probably damaging	Het
Ttn	A	G	2: 76,572,725 (GRCm39)	V17729A	possibly damaging	Het
Vmn2r104	G	A	17: 20,261,970 (GRCm39)	P387S	probably damaging	Het
Zfp940	C	T	7: 29,544,477 (GRCm39)	V477M	possibly damaging	Het
Zw10	A	G	9: 48,988,745 (GRCm39)		probably null	Het

Other mutations in Spsb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03268:Spsb2	APN	6	124,786,450 (GRCm39)	missense	probably damaging	1.00
BB004:Spsb2	UTSW	6	124,786,336 (GRCm39)	missense	probably benign	0.07
BB014:Spsb2	UTSW	6	124,786,336 (GRCm39)	missense	probably benign	0.07
R0557:Spsb2	UTSW	6	124,787,355 (GRCm39)	missense	probably damaging	1.00
R1752:Spsb2	UTSW	6	124,787,292 (GRCm39)	missense	probably benign	0.01
R1993:Spsb2	UTSW	6	124,786,329 (GRCm39)	splice site	probably null
R1994:Spsb2	UTSW	6	124,786,329 (GRCm39)	splice site	probably null
R2010:Spsb2	UTSW	6	124,787,339 (GRCm39)	missense	probably damaging	0.98
R3764:Spsb2	UTSW	6	124,786,518 (GRCm39)	missense	probably damaging	1.00
R4914:Spsb2	UTSW	6	124,786,711 (GRCm39)	missense	probably benign	0.00
R4918:Spsb2	UTSW	6	124,786,711 (GRCm39)	missense	probably benign	0.00
R7107:Spsb2	UTSW	6	124,787,244 (GRCm39)	missense	probably benign
R7732:Spsb2	UTSW	6	124,786,656 (GRCm39)	missense	probably damaging	1.00
R7927:Spsb2	UTSW	6	124,786,336 (GRCm39)	missense	probably benign	0.07
R9047:Spsb2	UTSW	6	124,786,976 (GRCm39)	missense	probably benign
R9418:Spsb2	UTSW	6	124,786,282 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTATTCGAGAGGTCTGCAC -3'
(R):5'- AGTGATCTCCCCACACCTAG -3'

Sequencing Primer
(F):5'- TCTGCACGCCTGGGAGATC -3'
(R):5'- ATGCGGACCTGGCACTG -3'

Posted On

2017-06-26