Mutagenetix > Incidental Mutation

Incidental Mutation 'R1939:Sh3bp2'

213801

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp2

Ensembl Gene

ENSMUSG00000054520

Gene Name

SH3-domain binding protein 2

Synonyms

3BP2

MMRRC Submission

039957-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34683182-34720985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34708963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 19 (N19D)

Ref Sequence

ENSEMBL: ENSMUSP00000136671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067638] [ENSMUST00000101316] [ENSMUST00000118545] [ENSMUST00000125817] [ENSMUST00000138912] [ENSMUST00000179943]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067638
AA Change: N19D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070890
Gene: ENSMUSG00000054520
AA Change: N19D

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

possibly damaging
Transcript: ENSMUST00000101316
AA Change: N63D

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098874
Gene: ENSMUSG00000054520
AA Change: N63D

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 damaging
Transcript: ENSMUST00000118545
AA Change: N75D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112554
Gene: ENSMUSG00000054520
AA Change: N75D

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 damaging
Transcript: ENSMUST00000125817
AA Change: N19D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000138912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153750

Predicted Effect

probably damaging
Transcript: ENSMUST00000179943
AA Change: N19D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136671
Gene: ENSMUSG00000054520
AA Change: N19D

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

noncoding transcript
Transcript: ENSMUST00000202745

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	A	11: 83,331,130 (GRCm39)	W11R	probably damaging	Het
2700049A03Rik	A	G	12: 71,207,186 (GRCm39)		probably null	Het
4933409G03Rik	T	C	2: 68,419,328 (GRCm39)	S26P	possibly damaging	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Acot3	A	G	12: 84,105,325 (GRCm39)	N264S	probably benign	Het
Acvr1c	A	T	2: 58,173,517 (GRCm39)	N248K	probably damaging	Het
Adam22	A	T	5: 8,380,015 (GRCm39)	F94L	probably damaging	Het
Adarb2	T	C	13: 8,253,358 (GRCm39)		probably null	Het
Aldh1b1	A	G	4: 45,802,755 (GRCm39)	M98V	possibly damaging	Het
Arfgef2	T	A	2: 166,715,548 (GRCm39)	V1331D	probably damaging	Het
Atf2	G	A	2: 73,676,563 (GRCm39)	P184S	probably damaging	Het
Atp8b3	A	T	10: 80,361,220 (GRCm39)	C785*	probably null	Het
Birc6	T	C	17: 74,977,332 (GRCm39)	S4362P	probably damaging	Het
Brd10	A	G	19: 29,731,077 (GRCm39)	F712S	possibly damaging	Het
Chn1	A	G	2: 73,455,245 (GRCm39)	C39R	probably damaging	Het
Cngb1	C	A	8: 96,026,320 (GRCm39)	G154W	probably damaging	Het
Cntnap5b	A	G	1: 99,895,073 (GRCm39)	H115R	probably benign	Het
Col23a1	A	G	11: 51,442,816 (GRCm39)	D159G	unknown	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Dnase2a	G	T	8: 85,637,524 (GRCm39)	A309S	possibly damaging	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Engase	T	A	11: 118,370,012 (GRCm39)	N97K	probably damaging	Het
Fam83b	A	T	9: 76,400,362 (GRCm39)	M247K	probably damaging	Het
Fer	T	C	17: 64,280,123 (GRCm39)	S65P	probably damaging	Het
Fgf10	A	G	13: 118,925,688 (GRCm39)	R156G	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm904	T	C	13: 50,798,772 (GRCm39)		probably null	Het
Gpat2	T	A	2: 127,277,879 (GRCm39)	*802K	probably null	Het
Hcfc2	G	T	10: 82,538,284 (GRCm39)	R107L	probably damaging	Het
Itga8	T	G	2: 12,305,657 (GRCm39)	D111A	probably damaging	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lgals8	T	G	13: 12,474,069 (GRCm39)	I10L	probably benign	Het
Lrp1b	A	G	2: 40,587,601 (GRCm39)	S116P	unknown	Het
Mcpt1	A	T	14: 56,256,546 (GRCm39)	K94I	possibly damaging	Het
Mpnd	T	C	17: 56,322,920 (GRCm39)	F384S	probably damaging	Het
Mrgprb5	A	T	7: 47,818,686 (GRCm39)	N16K	probably benign	Het
Myo15b	A	G	11: 115,778,529 (GRCm39)	T1139A	probably benign	Het
Nat8f5	A	C	6: 85,794,801 (GRCm39)	I53R	possibly damaging	Het
Nav1	A	T	1: 135,393,636 (GRCm39)	L1034Q	probably damaging	Het
Nudt6	T	C	3: 37,459,379 (GRCm39)	Y54C	probably damaging	Het
Or10j3b	G	T	1: 173,043,499 (GRCm39)	A94S	probably benign	Het
Or5p58	A	G	7: 107,694,348 (GRCm39)	V143A	probably benign	Het
Or6c217	A	C	10: 129,737,970 (GRCm39)	M203R	probably damaging	Het
Or8b35	A	G	9: 37,904,385 (GRCm39)	N199S	probably benign	Het
Or8c15	T	A	9: 38,120,725 (GRCm39)	Y72*	probably null	Het
Osbpl8	A	T	10: 111,125,672 (GRCm39)	H784L	probably benign	Het
Osr1	T	G	12: 9,629,687 (GRCm39)	S187A	probably damaging	Het
Pcdhgc5	A	G	18: 37,955,003 (GRCm39)	Y759C	probably damaging	Het
Pkd1l2	G	T	8: 117,772,921 (GRCm39)	Y1035*	probably null	Het
Pla2g15	A	G	8: 106,889,927 (GRCm39)	T400A	probably damaging	Het
Pms1	A	C	1: 53,236,135 (GRCm39)	L715R	probably damaging	Het
Prkd1	T	C	12: 50,441,777 (GRCm39)	N254S	probably benign	Het
Prkdc	T	C	16: 15,653,777 (GRCm39)	V3868A	possibly damaging	Het
Ptprt	T	C	2: 161,769,560 (GRCm39)	N435S	probably benign	Het
Purb	T	C	11: 6,424,943 (GRCm39)	E315G	unknown	Het
Rap1b	A	T	10: 117,654,491 (GRCm39)	N116K	probably damaging	Het
Rmc1	T	C	18: 12,313,562 (GRCm39)	L15P	probably damaging	Het
Rp1l1	A	G	14: 64,267,042 (GRCm39)	N876S	probably benign	Het
Rps6ka4	T	A	19: 6,816,834 (GRCm39)	I114F	probably damaging	Het
Semp2l1	T	C	1: 32,584,627 (GRCm39)	I428V	probably damaging	Het
Slc16a4	A	G	3: 107,208,317 (GRCm39)	M276V	probably benign	Het
Slc17a1	A	G	13: 24,059,864 (GRCm39)	T172A	probably benign	Het
Slc4a7	C	T	14: 14,748,581 (GRCm38)	A320V	probably damaging	Het
Slco1a6	T	A	6: 142,078,956 (GRCm39)	Y113F	probably damaging	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
St3gal6	A	T	16: 58,293,924 (GRCm39)		probably null	Het
Tdp2	A	G	13: 25,025,260 (GRCm39)	D343G	probably benign	Het
Tecpr2	T	A	12: 110,899,603 (GRCm39)	L657Q	probably damaging	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Trappc6a	T	A	7: 19,248,426 (GRCm39)	F28I	probably damaging	Het
Trim32	G	A	4: 65,532,303 (GRCm39)	V287I	probably benign	Het
Trpd52l3	T	C	19: 29,981,289 (GRCm39)	S15P	probably damaging	Het
Tsnaxip1	A	G	8: 106,566,670 (GRCm39)	I169V	probably benign	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttll11	T	A	2: 35,830,765 (GRCm39)	Q18L	probably null	Het
Ttll8	A	T	15: 88,799,689 (GRCm39)	I584N	probably damaging	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ucp3	T	C	7: 100,129,871 (GRCm39)	V171A	probably benign	Het
Vmn1r174	T	A	7: 23,453,532 (GRCm39)	I66N	probably damaging	Het
Vmn2r13	T	C	5: 109,339,852 (GRCm39)	D41G	possibly damaging	Het
Vmn2r4	T	C	3: 64,305,976 (GRCm39)	D393G	probably benign	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zfp976	C	A	7: 42,263,105 (GRCm39)	C244F	unknown	Het
Zmym5	A	G	14: 57,036,577 (GRCm39)	V190A	probably 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
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
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'- CTCAGAAGCCTGGGGACTTATG -3'
(R):5'- TGTGCCAGCTGCTAGAAAAGG -3'

Sequencing Primer
(F):5'- GGGACTTATGAAGAGTCCTCCTC -3'
(R):5'- GGAAAAGAAATCTCAGGAGACCCAC -3'

Posted On

2014-07-14