Mutagenetix > Incidental Mutation

Incidental Mutation 'R2021:Sh3bp2'

223973

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp2

Ensembl Gene

ENSMUSG00000054520

Gene Name

SH3-domain binding protein 2

Synonyms

3BP2

MMRRC Submission

040030-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2021 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34683182-34720985 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 34701569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067638] [ENSMUST00000101316] [ENSMUST00000125817] [ENSMUST00000138912] [ENSMUST00000138912]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067638

SMART Domains

Protein: ENSMUSP00000070890
Gene: ENSMUSG00000054520

Domain	Start	End	E-Value	Type
PH	27	132	1.33e-18	SMART
low complexity region	141	151	N/A	INTRINSIC
low complexity region	170	185	N/A	INTRINSIC
low complexity region	200	216	N/A	INTRINSIC
low complexity region	228	241	N/A	INTRINSIC
low complexity region	313	327	N/A	INTRINSIC
low complexity region	370	385	N/A	INTRINSIC
SH2	453	542	2.04e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101316

SMART Domains

Protein: ENSMUSP00000098874
Gene: ENSMUSG00000054520

Domain	Start	End	E-Value	Type
PH	71	176	1.33e-18	SMART
low complexity region	185	195	N/A	INTRINSIC
low complexity region	214	229	N/A	INTRINSIC
low complexity region	244	260	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC
low complexity region	357	371	N/A	INTRINSIC
low complexity region	414	429	N/A	INTRINSIC
SH2	497	586	2.04e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125817

Predicted Effect

probably benign
Transcript: ENSMUST00000138912

Predicted Effect

probably benign
Transcript: ENSMUST00000138912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153750

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,035,450 (GRCm39)	S316T	probably damaging	Het
Alox8	C	T	11: 69,077,114 (GRCm39)	V460I	probably damaging	Het
Aoc1l2	T	C	6: 48,908,385 (GRCm39)	S462P	probably damaging	Het
Arvcf	G	A	16: 18,218,482 (GRCm39)	A491T	probably damaging	Het
Asnsd1	A	G	1: 53,386,386 (GRCm39)	S414P	possibly damaging	Het
Btbd7	A	G	12: 102,756,968 (GRCm39)	L706P	probably damaging	Het
Camk2d	T	A	3: 126,574,105 (GRCm39)	W171R	probably damaging	Het
Casc3	T	A	11: 98,712,332 (GRCm39)	S124T	probably benign	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc182	T	C	11: 88,184,962 (GRCm39)	V14A	possibly damaging	Het
Ccdc80	A	T	16: 44,943,275 (GRCm39)	Q795L	probably damaging	Het
Ccdc88a	T	G	11: 29,453,480 (GRCm39)	S1614R	probably damaging	Het
Cemip2	G	A	19: 21,822,114 (GRCm39)	A1170T	possibly damaging	Het
Clcn6	A	G	4: 148,095,109 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,313,360 (GRCm39)	V3070A	probably benign	Het
Dst	G	A	1: 34,205,372 (GRCm39)	V1025I	possibly damaging	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Elk3	T	A	10: 93,101,539 (GRCm39)	I71F	probably damaging	Het
Flt3	A	T	5: 147,306,300 (GRCm39)	I276N	probably damaging	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Golph3l	T	A	3: 95,524,668 (GRCm39)	D306E	probably benign	Het
Grk2	T	A	19: 4,340,698 (GRCm39)	I254F	probably damaging	Het
Hgf	C	T	5: 16,781,919 (GRCm39)	T214I	probably benign	Het
Hoxc5	C	A	15: 102,922,814 (GRCm39)		probably null	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Ipp	A	G	4: 116,372,565 (GRCm39)	Y198C	probably benign	Het
Ism1	T	A	2: 139,582,047 (GRCm39)		probably null	Het
Klhl42	A	G	6: 146,993,394 (GRCm39)	Y122C	possibly damaging	Het
Klk1b21	A	T	7: 43,755,418 (GRCm39)	K206*	probably null	Het
Lcn11	A	G	2: 25,668,097 (GRCm39)	K85R	probably benign	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Matn4	A	G	2: 164,242,573 (GRCm39)	V175A	probably damaging	Het
Myh2	A	T	11: 67,082,545 (GRCm39)	N1372Y	probably damaging	Het
Ncl	A	G	1: 86,284,677 (GRCm39)		probably null	Het
Nudt2	A	G	4: 41,480,255 (GRCm39)	D46G	probably damaging	Het
Obscn	C	T	11: 58,958,000 (GRCm39)	D3567N	probably benign	Het
Or1j17	G	C	2: 36,578,487 (GRCm39)	V158L	probably benign	Het
Or2z9	G	T	8: 72,853,930 (GRCm39)	V109F	possibly damaging	Het
Or4a72	A	T	2: 89,405,305 (GRCm39)	M255K	possibly damaging	Het
Pamr1	T	A	2: 102,464,880 (GRCm39)	M343K	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Ppm1h	T	A	10: 122,714,433 (GRCm39)	L324*	probably null	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Prkdc	G	A	16: 15,494,873 (GRCm39)	V748I	probably benign	Het
Prss47	A	G	13: 65,199,591 (GRCm39)	V96A	probably benign	Het
Rsbn1	C	T	3: 103,821,789 (GRCm39)	T8I	probably benign	Het
Rsf1	GGCG	GGCGACGGCGGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Serpinb3d	A	G	1: 107,006,182 (GRCm39)	V302A	probably benign	Het
Sfrp4	A	T	13: 19,816,496 (GRCm39)	I177F	probably benign	Het
Slc7a12	A	G	3: 14,562,393 (GRCm39)	T257A	probably damaging	Het
Spata31e5	A	T	1: 28,817,234 (GRCm39)	V266D	probably damaging	Het
Specc1l	T	C	10: 75,103,425 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,534,716 (GRCm39)	T3658A	probably benign	Het
Styxl2	A	T	1: 165,928,392 (GRCm39)	W407R	probably benign	Het
Tmem30c	T	C	16: 57,101,725 (GRCm39)	T68A	probably damaging	Het
Tnr	A	G	1: 159,679,592 (GRCm39)	I189V	probably benign	Het
Trrap	A	G	5: 144,790,298 (GRCm39)	N3586S	possibly damaging	Het
Usp14	T	C	18: 10,024,632 (GRCm39)	T22A	probably damaging	Het
Vmn1r68	A	G	7: 10,261,918 (GRCm39)	L60P	probably damaging	Het
Vmn2r108	G	A	17: 20,691,252 (GRCm39)	H424Y	probably benign	Het
Wdr81	C	A	11: 75,336,788 (GRCm39)	E1534*	probably null	Het
Zc3h13	A	G	14: 75,567,635 (GRCm39)	E976G	probably damaging	Het
Zfp128	T	C	7: 12,623,956 (GRCm39)	L108P	possibly damaging	Het
Zfp644	T	C	5: 106,783,548 (GRCm39)	I1000V	possibly damaging	Het

Other mutations in Sh3bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01845:Sh3bp2	APN	5	34,713,347 (GRCm39)	missense	probably damaging	0.99
IGL02478:Sh3bp2	APN	5	34,709,006 (GRCm39)	missense	probably damaging	1.00
IGL03196:Sh3bp2	APN	5	34,714,687 (GRCm39)	missense	probably damaging	1.00
IGL03329:Sh3bp2	APN	5	34,716,546 (GRCm39)	missense	probably benign	0.00
R0718:Sh3bp2	UTSW	5	34,712,839 (GRCm39)	missense	probably damaging	0.99
R1322:Sh3bp2	UTSW	5	34,712,837 (GRCm39)	missense	probably damaging	1.00
R1501:Sh3bp2	UTSW	5	34,712,920 (GRCm39)	critical splice donor site	probably null
R1573:Sh3bp2	UTSW	5	34,718,034 (GRCm39)	missense	probably benign	0.01
R1649:Sh3bp2	UTSW	5	34,716,348 (GRCm39)	missense	possibly damaging	0.61
R1939:Sh3bp2	UTSW	5	34,708,963 (GRCm39)	missense	probably damaging	1.00
R2372:Sh3bp2	UTSW	5	34,716,840 (GRCm39)	missense	probably benign	0.00
R2903:Sh3bp2	UTSW	5	34,700,900 (GRCm39)	nonsense	probably null
R3709:Sh3bp2	UTSW	5	34,709,002 (GRCm39)	missense	probably damaging	1.00
R4344:Sh3bp2	UTSW	5	34,712,886 (GRCm39)	missense	possibly damaging	0.86
R4391:Sh3bp2	UTSW	5	34,707,062 (GRCm39)	missense	probably benign
R5068:Sh3bp2	UTSW	5	34,714,311 (GRCm39)	missense	probably benign	0.00
R5637:Sh3bp2	UTSW	5	34,718,392 (GRCm39)	missense	possibly damaging	0.69
R5658:Sh3bp2	UTSW	5	34,714,291 (GRCm39)	missense	probably damaging	1.00
R6005:Sh3bp2	UTSW	5	34,719,809 (GRCm39)	missense	possibly damaging	0.65
R6014:Sh3bp2	UTSW	5	34,716,971 (GRCm39)	missense	probably benign	0.00
R6391:Sh3bp2	UTSW	5	34,718,947 (GRCm39)	missense	probably damaging	1.00
R6737:Sh3bp2	UTSW	5	34,719,818 (GRCm39)	missense	probably damaging	1.00
R7144:Sh3bp2	UTSW	5	34,718,975 (GRCm39)	missense	probably benign	0.00
R7536:Sh3bp2	UTSW	5	34,700,901 (GRCm39)	missense	probably benign
R7871:Sh3bp2	UTSW	5	34,716,429 (GRCm39)	missense	not run
R8775:Sh3bp2	UTSW	5	34,719,751 (GRCm39)	missense	probably damaging	1.00
R8775-TAIL:Sh3bp2	UTSW	5	34,719,751 (GRCm39)	missense	probably damaging	1.00
R9052:Sh3bp2	UTSW	5	34,709,164 (GRCm39)	intron	probably benign
R9180:Sh3bp2	UTSW	5	34,718,377 (GRCm39)	nonsense	probably null
R9350:Sh3bp2	UTSW	5	34,718,453 (GRCm39)	critical splice donor site	probably null
R9687:Sh3bp2	UTSW	5	34,716,977 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTGCTCAAGGTTCTCACATAAAG -3'
(R):5'- GATGCTCTTCAGGGACCAAC -3'

Sequencing Primer
(F):5'- GTGGATAATCCCAAGGCCTCAG -3'
(R):5'- TCACCAGTGAAGATATCCAGGGTC -3'

Posted On

2014-08-25