Mutagenetix > Incidental Mutation

Incidental Mutation 'R9047:Spsb2'

688113

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

068873-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R9047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124785640-124787582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124786976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 236 (N236K)

Ref Sequence

ENSEMBL: ENSMUSP00000108092 (fasta)

Gene Model

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

AlphaFold

O88838

PDB Structure

SPRY domain-containing SOCS box protein 2 (SSB-2) [SOLUTION NMR]
SPRY Domain-containing SOCS Box Protein 2: Crystal Structure and Residues Critical for Protein Binding [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000047760

SMART Domains

Protein: ENSMUSP00000041585
Gene: ENSMUSG00000038451

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

SMART Domains

Protein: ENSMUSP00000060124
Gene: ENSMUSG00000038451

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: N236K

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

SMART Domains

Protein: ENSMUSP00000108092
Gene: ENSMUSG00000038451
AA Change: N236K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130160

SMART Domains

Protein: ENSMUSP00000122149
Gene: ENSMUSG00000038451

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143040

SMART Domains

Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (76/76)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,644,848 (GRCm39)	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,885,420 (GRCm39)	L146P		Het
Adra1a	T	A	14: 66,875,634 (GRCm39)	M203K	probably damaging	Het
Adtrp	G	A	13: 41,969,636 (GRCm39)	T89I	possibly damaging	Het
Akt3	G	T	1: 176,886,955 (GRCm39)	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,350,511 (GRCm39)		probably benign	Het
Aplf	T	C	6: 87,640,779 (GRCm39)	T77A	possibly damaging	Het
Arid4b	T	A	13: 14,355,815 (GRCm39)	W618R	probably damaging	Het
Asxl3	C	A	18: 22,585,465 (GRCm39)	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,585,471 (GRCm39)	K132R	probably damaging	Het
Atp11a	T	C	8: 12,878,483 (GRCm39)	M353T	probably damaging	Het
Atp11b	A	G	3: 35,861,038 (GRCm39)	D375G	probably damaging	Het
Cage1	C	T	13: 38,201,338 (GRCm39)	A656T	possibly damaging	Het
Casz1	C	T	4: 149,023,497 (GRCm39)	P801S	probably damaging	Het
Cdc14b	A	T	13: 64,368,758 (GRCm39)		probably benign	Het
Cdin1	A	G	2: 115,607,504 (GRCm39)	T286A	probably benign	Het
Cox6b2	A	G	7: 4,755,086 (GRCm39)	F63L	probably benign	Het
Cramp1	A	C	17: 25,198,603 (GRCm39)	V773G	possibly damaging	Het
Cul7	A	G	17: 46,965,448 (GRCm39)	E542G	probably benign	Het
Cyp2c55	T	C	19: 39,019,790 (GRCm39)	Y243H	possibly damaging	Het
Dnah9	C	A	11: 65,962,925 (GRCm39)	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 106,715,944 (GRCm39)	A298S		Het
Dvl3	G	A	16: 20,342,826 (GRCm39)		probably null	Het
Dynlt2a3	A	G	17: 15,187,942 (GRCm39)	Y111H	probably damaging	Het
Enpp3	T	C	10: 24,674,172 (GRCm39)	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,102,232 (GRCm39)	I289T	possibly damaging	Het
Gm5565	T	C	5: 146,094,849 (GRCm39)	Y299C	probably damaging	Het
Gm57858	A	G	3: 36,087,033 (GRCm39)	I187T	probably benign	Het
Gpat3	A	T	5: 100,994,788 (GRCm39)	M39L	probably benign	Het
Gpr153	T	C	4: 152,364,664 (GRCm39)	L240P	probably damaging	Het
Gpr182	T	C	10: 127,586,517 (GRCm39)	I145V	probably benign	Het
H2-Q4	A	T	17: 35,598,969 (GRCm39)	T80S	possibly damaging	Het
Hnf1a	T	A	5: 115,088,882 (GRCm39)	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261 (GRCm39)	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,877,167 (GRCm39)	C79Y	probably damaging	Het
Lama2	A	G	10: 26,882,697 (GRCm39)	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,391,375 (GRCm39)	Q1350L	probably damaging	Het
Map2k2	G	A	10: 80,955,498 (GRCm39)	V294I	probably benign	Het
Meak7	T	C	8: 120,489,050 (GRCm39)	N411S	probably benign	Het
Mtus1	G	A	8: 41,536,760 (GRCm39)	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,644,621 (GRCm39)	D67G	possibly damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nlrp9b	A	G	7: 19,757,401 (GRCm39)	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,275,803 (GRCm39)	R649H	possibly damaging	Het
Or14a258	A	G	7: 86,035,248 (GRCm39)	S207P	probably benign	Het
Or4a67	C	A	2: 88,598,299 (GRCm39)	R120L	probably damaging	Het
Or5d20-ps1	T	G	2: 87,931,416 (GRCm39)	D305A	unknown	Het
Pi4kb	T	A	3: 94,900,428 (GRCm39)	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,898,190 (GRCm39)	S944P	probably damaging	Het
Podn	C	T	4: 107,878,743 (GRCm39)	V375M	probably damaging	Het
Pramel12	C	A	4: 143,145,673 (GRCm39)	Q381K	possibly damaging	Het
Psmb2	T	A	4: 126,599,895 (GRCm39)	H110Q	probably benign	Het
Rasip1	A	G	7: 45,282,066 (GRCm39)	E523G	possibly damaging	Het
Ripor1	T	G	8: 106,342,783 (GRCm39)	C219G	probably damaging	Het
Rps6ka2	G	C	17: 7,567,678 (GRCm39)	V714L	probably damaging	Het
Sass6	G	T	3: 116,407,647 (GRCm39)	L254F	probably damaging	Het
Scarf2	G	A	16: 17,624,270 (GRCm39)	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,046,131 (GRCm39)		probably benign	Het
Sh3tc1	C	A	5: 35,863,827 (GRCm39)	A787S	probably benign	Het
Skint5	T	A	4: 113,512,919 (GRCm39)	N871I	unknown	Het
Slc48a1	T	G	15: 97,687,833 (GRCm39)	D62E	probably damaging	Het
Slc6a21	G	A	7: 44,936,398 (GRCm39)	M157I		Het
Slurp2	T	C	15: 74,614,961 (GRCm39)	D60G	probably benign	Het
Sparcl1	G	T	5: 104,240,979 (GRCm39)	N148K	possibly damaging	Het
Spata31e4	C	T	13: 50,856,128 (GRCm39)	R589*	probably null	Het
Sptb	G	T	12: 76,679,308 (GRCm39)		probably benign	Het
Ssc4d	A	T	5: 135,990,030 (GRCm39)	C41S	probably damaging	Het
Tecta	A	T	9: 42,286,375 (GRCm39)	D760E	probably benign	Het
Tesmin	G	T	19: 3,439,431 (GRCm39)		probably benign	Het
Tiam1	A	C	16: 89,601,776 (GRCm39)		probably benign	Het
Tnrc6a	T	C	7: 122,778,946 (GRCm39)	L1219S	probably damaging	Het
Tram1	T	G	1: 13,639,830 (GRCm39)	I306L	probably benign	Het
Trank1	A	C	9: 111,191,500 (GRCm39)	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,031,596 (GRCm39)	H1044R		Het
Ubac2	T	C	14: 122,145,626 (GRCm39)	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,326,296 (GRCm39)	M194L	probably benign	Het
Yju2b	C	T	8: 84,990,527 (GRCm39)	R35Q	probably damaging	Het
Zdhhc1	G	T	8: 106,205,533 (GRCm39)	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,652,292 (GRCm39)	V42I	probably damaging	Het
Zfp81	A	G	17: 33,553,387 (GRCm39)	C476R	probably damaging	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
R5983: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
R9418:Spsb2	UTSW	6	124,786,282 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCTTGGCTACTCTATTGGGG -3'
(R):5'- AACTCCAGGCATCCTTGAAC -3'

Sequencing Primer
(F):5'- CTACTCTATTGGGGGCACGTAC -3'
(R):5'- AGGCATCCTTGAACTTGAGATCCTG -3'

Posted On

2021-11-19