Mutagenetix > Incidental Mutation

Incidental Mutation 'R7144:Sh3bp2'

553619

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp2

Ensembl Gene

ENSMUSG00000054520

Gene Name

SH3-domain binding protein 2

Synonyms

3BP2

MMRRC Submission

045328-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34683182-34720985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34718975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 560 (N560S)

Ref Sequence

ENSEMBL: ENSMUSP00000112554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067638] [ENSMUST00000101316] [ENSMUST00000118545] [ENSMUST00000179943]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067638
AA Change: N504S

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

SMART Domains

Protein: ENSMUSP00000070890
Gene: ENSMUSG00000054520
AA Change: N504S

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
AA Change: N548S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000098874
Gene: ENSMUSG00000054520
AA Change: N548S

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: ENSMUST00000118545
AA Change: N560S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112554
Gene: ENSMUSG00000054520
AA Change: N560S

Domain	Start	End	E-Value	Type
PH	83	188	1.33e-18	SMART
low complexity region	197	207	N/A	INTRINSIC
low complexity region	226	241	N/A	INTRINSIC
low complexity region	256	272	N/A	INTRINSIC
low complexity region	284	297	N/A	INTRINSIC
low complexity region	369	383	N/A	INTRINSIC
low complexity region	426	441	N/A	INTRINSIC
SH2	509	598	2.04e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179943
AA Change: N504S

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

SMART Domains

Protein: ENSMUSP00000136671
Gene: ENSMUSG00000054520
AA Change: N504S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (95/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,032,796 (GRCm39)	I272F	possibly damaging	Het
Adcy10	G	T	1: 165,337,939 (GRCm39)	M184I	probably benign	Het
Aldoa	G	T	7: 126,396,034 (GRCm39)	T124N	possibly damaging	Het
Ap4e1	T	A	2: 126,853,727 (GRCm39)	I55N	probably damaging	Het
Arhgap21	T	C	2: 20,870,198 (GRCm39)	T913A	probably benign	Het
Atrnl1	G	A	19: 58,030,784 (GRCm39)	E1309K	probably damaging	Het
BC034090	A	T	1: 155,117,777 (GRCm39)	C114S	probably damaging	Het
Brinp2	A	G	1: 158,122,994 (GRCm39)		probably null	Het
Ccn4	T	A	15: 66,784,879 (GRCm39)	V184E	probably damaging	Het
Ccna1	G	T	3: 54,953,120 (GRCm39)	H408Q	probably benign	Het
Cd209g	T	G	8: 4,185,189 (GRCm39)		probably benign	Het
Cdc20b	A	G	13: 113,219,905 (GRCm39)	I433V	probably benign	Het
Cdk2ap1	G	A	5: 124,492,421 (GRCm39)	P5L	probably damaging	Het
Cep128	T	C	12: 91,260,933 (GRCm39)	E310G	probably damaging	Het
Cflar	G	T	1: 58,793,007 (GRCm39)	V458F		Het
Clec4b2	A	G	6: 123,158,343 (GRCm39)	T70A	probably benign	Het
Cntnap5c	A	G	17: 58,593,883 (GRCm39)	T741A	probably benign	Het
Csf3r	A	T	4: 125,937,515 (GRCm39)	T800S	probably benign	Het
Csnk1g2	T	C	10: 80,473,733 (GRCm39)	Y67H	probably damaging	Het
Cyp2c67	A	T	19: 39,604,138 (GRCm39)	V406E	probably benign	Het
Dnah10	A	G	5: 124,900,006 (GRCm39)	D3868G	probably damaging	Het
Dnah7a	A	T	1: 53,737,867 (GRCm39)		probably null	Het
Dst	A	G	1: 34,191,324 (GRCm39)	N208S	probably damaging	Het
Echdc3	A	G	2: 6,211,224 (GRCm39)		probably null	Het
Edrf1	T	C	7: 133,239,578 (GRCm39)	S13P	probably benign	Het
Ephb1	T	C	9: 101,841,276 (GRCm39)	Y734C	probably damaging	Het
Eps8l1	A	G	7: 4,475,184 (GRCm39)	Y325C	probably damaging	Het
Evc2	A	G	5: 37,544,183 (GRCm39)	D644G	probably damaging	Het
Eya4	A	C	10: 23,048,943 (GRCm39)	D54E	probably benign	Het
Filip1	T	C	9: 79,727,495 (GRCm39)	S375G	possibly damaging	Het
Fmo9	A	G	1: 166,505,189 (GRCm39)	M68T	probably benign	Het
Gemin5	G	C	11: 58,032,489 (GRCm39)	P772A	probably benign	Het
Gle1	T	G	2: 29,833,805 (GRCm39)	C401G	probably damaging	Het
Gm7298	A	T	6: 121,738,546 (GRCm39)	I376F	probably damaging	Het
Gpr35	A	C	1: 92,910,353 (GRCm39)	I22L	probably benign	Het
Grin2b	T	G	6: 135,710,474 (GRCm39)	D1024A	possibly damaging	Het
Hmcn1	T	C	1: 150,539,624 (GRCm39)	N2956D	probably damaging	Het
Htt	T	C	5: 35,003,350 (GRCm39)	L1275P	probably damaging	Het
Ibtk	T	C	9: 85,625,744 (GRCm39)	D2G	probably benign	Het
Il16	T	A	7: 83,295,659 (GRCm39)	D1170V	probably damaging	Het
Iqgap3	T	A	3: 88,024,217 (GRCm39)	I1513N	probably damaging	Het
Kiz	T	G	2: 146,792,430 (GRCm39)		probably null	Het
Krt12	A	T	11: 99,306,839 (GRCm39)	*488K	probably null	Het
Lap3	A	T	5: 45,654,290 (GRCm39)	T83S	probably benign	Het
Lars2	T	A	9: 123,261,058 (GRCm39)	S410T	probably damaging	Het
Limch1	A	G	5: 67,175,001 (GRCm39)	T518A	probably benign	Het
Lrrc49	A	T	9: 60,522,439 (GRCm39)	S381T	probably damaging	Het
Lrrk2	A	G	15: 91,618,258 (GRCm39)	D919G	possibly damaging	Het
Mmp1a	A	T	9: 7,475,319 (GRCm39)	S363C	probably damaging	Het
Mrps22	A	C	9: 98,483,524 (GRCm39)		probably null	Het
Mybpc3	T	C	2: 90,964,949 (GRCm39)	I1066T	probably benign	Het
Myo10	A	T	15: 25,724,011 (GRCm39)	N215I	probably damaging	Het
Myocd	A	C	11: 65,109,474 (GRCm39)	L99R	probably damaging	Het
Nadk	T	G	4: 155,673,793 (GRCm39)	I394S	probably damaging	Het
Nadsyn1	T	C	7: 143,364,952 (GRCm39)	N251S	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Ncapd2	G	A	6: 125,153,633 (GRCm39)	P694L	probably benign	Het
Or2ag1	T	A	7: 106,473,075 (GRCm39)	I126F	probably damaging	Het
Or2w3b	A	C	11: 58,623,571 (GRCm39)	L140R	probably damaging	Het
Or4a71	T	C	2: 89,357,901 (GRCm39)	I284M	probably damaging	Het
Or5t16	G	T	2: 86,819,164 (GRCm39)	R119S	probably damaging	Het
Pcdhb13	T	A	18: 37,576,309 (GRCm39)	I229K	probably damaging	Het
Pgbd5	A	T	8: 125,101,056 (GRCm39)	M400K	possibly damaging	Het
Phactr3	A	G	2: 177,944,529 (GRCm39)	N409S	probably damaging	Het
Pik3c2g	C	A	6: 139,606,868 (GRCm39)	P305Q	probably damaging	Het
Pik3r4	G	A	9: 105,527,783 (GRCm39)	V379M	probably damaging	Het
Pira12	A	G	7: 3,900,615 (GRCm39)	V45A	probably damaging	Het
Pkd1l2	A	T	8: 117,802,870 (GRCm39)	C250*	probably null	Het
Pramel14	A	C	4: 143,718,103 (GRCm39)	S447A	probably benign	Het
Rapgef6	A	C	11: 54,548,191 (GRCm39)	T792P	possibly damaging	Het
Rexo5	A	G	7: 119,404,414 (GRCm39)	D170G	probably damaging	Het
Rnf17	G	A	14: 56,749,789 (GRCm39)		probably null	Het
Septin11	A	G	5: 93,304,725 (GRCm39)	I181V	probably benign	Het
Serpina1e	T	G	12: 103,913,277 (GRCm39)	*414C	probably null	Het
Serpine1	C	A	5: 137,099,918 (GRCm39)	Q80H	probably damaging	Het
Slc25a25	A	G	2: 32,309,178 (GRCm39)	F221S	probably damaging	Het
Spag17	G	T	3: 99,934,717 (GRCm39)		probably null	Het
Sspn	T	C	6: 145,906,881 (GRCm39)	L104P	probably damaging	Het
St18	A	C	1: 6,903,818 (GRCm39)	E693A	probably damaging	Het
St6galnac3	T	C	3: 153,117,169 (GRCm39)	I185V	possibly damaging	Het
St8sia1	T	C	6: 142,822,395 (GRCm39)	D156G	probably damaging	Het
Syne2	C	A	12: 76,052,152 (GRCm39)	S4092R	probably benign	Het
Tll1	T	A	8: 64,577,979 (GRCm39)	D76V	possibly damaging	Het
Tmco1	C	T	1: 167,136,022 (GRCm39)		probably benign	Het
Tnfaip3	T	A	10: 18,883,029 (GRCm39)	T179S	probably benign	Het
Trav16	T	C	14: 53,981,096 (GRCm39)	I95T	possibly damaging	Het
Trip12	A	T	1: 84,771,435 (GRCm39)	S280T	probably damaging	Het
Unc79	A	G	12: 103,108,885 (GRCm39)	M2166V	probably benign	Het
Vmn2r1	A	G	3: 63,997,362 (GRCm39)	I339M	probably damaging	Het
Vwa5b1	A	G	4: 138,332,742 (GRCm39)		probably null	Het
Washc4	A	T	10: 83,409,638 (GRCm39)		probably null	Het
Wiz	A	G	17: 32,576,602 (GRCm39)	S642P	possibly damaging	Het
Zeb2	T	A	2: 45,000,053 (GRCm39)	K60N	possibly damaging	Het
Zfat	T	A	15: 68,050,631 (GRCm39)	T797S	probably benign	Het
Zfp74	T	C	7: 29,634,590 (GRCm39)	K373E	probably damaging	Het
Zswim5	T	C	4: 116,833,173 (GRCm39)		probably null	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
R2021:Sh3bp2	UTSW	5	34,701,569 (GRCm39)	critical splice acceptor site	probably benign
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
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'- GCGACTGTAGCTAGAACGTAG -3'
(R):5'- TAAAACCAAGGGCGGCTACC -3'

Sequencing Primer
(F):5'- AACGTAGCTTCCATTATCCCTGAGAG -3'
(R):5'- GGCTACCCAGTACTTCTAGAGTAAG -3'

Posted On

2019-05-15