Mutagenetix > Incidental Mutation

Incidental Mutation 'R7871:Sh3bp2'

608097

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp2

Ensembl Gene

ENSMUSG00000054520

Gene Name

SH3-domain binding protein 2

Synonyms

3BP2

MMRRC Submission

045923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7871 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34683182-34720985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34716429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 280 (H280R)

Ref Sequence

ENSEMBL: ENSMUSP00000112554 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

not run
Transcript: ENSMUST00000118545
AA Change: H280R

SMART Domains

Protein: ENSMUSP00000112554
Gene: ENSMUSG00000054520
AA Change: H280R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (64/66)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,331,092 (GRCm39)	S1041P	probably benign	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,361,864 (GRCm39)		probably null	Het
Arpin	A	T	7: 79,577,463 (GRCm39)	W195R	probably damaging	Het
Asap1	A	G	15: 63,963,925 (GRCm39)	V1091A	probably damaging	Het
Asxl3	A	G	18: 22,657,281 (GRCm39)	T1764A	not run	Het
Bmp7	C	A	2: 172,781,784 (GRCm39)	A27S	probably benign	Het
Ccnh	T	A	13: 85,359,991 (GRCm39)	Y297*	probably null	Het
Ccno	C	A	13: 113,124,647 (GRCm39)	D72E	probably benign	Het
Cd70	T	G	17: 57,455,770 (GRCm39)	T67P	probably damaging	Het
Chml	CTGTTTG	CTG	1: 175,514,966 (GRCm39)		probably null	Het
Chst4	A	G	8: 110,757,545 (GRCm39)	F106S	probably damaging	Het
Cntnap3	A	C	13: 65,051,587 (GRCm39)	L23R	probably benign	Het
Crybg2	T	A	4: 133,814,910 (GRCm39)	L1288H	probably damaging	Het
Cse1l	T	A	2: 166,777,591 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,133,177 (GRCm39)	H841R	probably damaging	Het
Cyp2c39	T	C	19: 39,549,405 (GRCm39)	Y308H	possibly damaging	Het
Cyp4f18	G	A	8: 72,742,487 (GRCm39)	P498S	possibly damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dnah3	T	A	7: 119,566,775 (GRCm39)	I97F		Het
Entpd3	A	G	9: 120,389,652 (GRCm39)	R313G	possibly damaging	Het
Erg28	G	A	12: 85,866,253 (GRCm39)	T75I	probably damaging	Het
Fam171a1	A	G	2: 3,226,421 (GRCm39)	H518R	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Galntl6	T	C	8: 58,290,222 (GRCm39)	E457G	probably damaging	Het
Glt8d1	A	T	14: 30,732,296 (GRCm39)	H192L	probably damaging	Het
Gm15446	T	A	5: 110,091,165 (GRCm39)	C472*	probably null	Het
Gm28363	A	T	1: 117,625,228 (GRCm39)	M1L	unknown	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gstp3	T	A	19: 4,108,746 (GRCm39)	K45*	probably null	Het
Hsd17b13	A	G	5: 104,113,681 (GRCm39)	F258L	possibly damaging	Het
Htt	T	C	5: 35,021,993 (GRCm39)	S1646P	probably benign	Het
Ipo11	T	C	13: 107,028,976 (GRCm39)	M326V	probably benign	Het
Itpr3	T	A	17: 27,336,153 (GRCm39)	I2293N	probably damaging	Het
Klk1b8	A	G	7: 43,448,750 (GRCm39)		probably null	Het
Kntc1	T	A	5: 123,922,290 (GRCm39)	L963H	probably damaging	Het
Lyst	T	A	13: 13,810,637 (GRCm39)	L769*	probably null	Het
Map3k13	A	G	16: 21,740,346 (GRCm39)	S558G	probably benign	Het
Mbd1	G	A	18: 74,407,128 (GRCm39)		probably null	Het
Mep1a	T	C	17: 43,790,126 (GRCm39)	N408D	probably benign	Het
Mtrf1	A	G	14: 79,644,378 (GRCm39)	T229A	probably benign	Het
Muc4	C	T	16: 32,754,935 (GRCm38)	S1603L	unknown	Het
Myo1b	A	C	1: 51,818,739 (GRCm39)	I512S	possibly damaging	Het
N4bp2	A	G	5: 65,964,446 (GRCm39)	I832V	probably benign	Het
Nadsyn1	T	A	7: 143,352,233 (GRCm39)	K618*	probably null	Het
Ncstn	T	C	1: 171,903,023 (GRCm39)	D87G	probably benign	Het
Neurl4	T	C	11: 69,794,012 (GRCm39)	V156A	probably benign	Het
Nfasc	C	A	1: 132,527,751 (GRCm39)	G885V	not run	Het
Nox4	A	T	7: 86,963,335 (GRCm39)	Y180F	possibly damaging	Het
Nuggc	A	G	14: 65,860,700 (GRCm39)	T449A	probably benign	Het
Or6c209	A	G	10: 129,483,281 (GRCm39)	I95V	probably benign	Het
Pik3r4	T	C	9: 105,540,316 (GRCm39)	S735P	probably damaging	Het
Ppp1r9b	T	C	11: 94,892,735 (GRCm39)	I645T	probably damaging	Het
Rras2	G	A	7: 113,716,783 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,962,822 (GRCm39)	M25T	probably damaging	Het
Serpinb3c	T	A	1: 107,200,883 (GRCm39)	Y178F	possibly damaging	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Skor1	T	C	9: 63,053,783 (GRCm39)	E62G	probably damaging	Het
Slc22a22	T	A	15: 57,126,751 (GRCm39)	N106I	possibly damaging	Het
Slc44a4	T	A	17: 35,142,828 (GRCm39)		probably null	Het
Sppl2c	A	G	11: 104,079,342 (GRCm39)		probably null	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Stx5a	T	A	19: 8,732,482 (GRCm39)	W384R	unknown	Het
Topaz1	A	G	9: 122,609,765 (GRCm39)	Y1111C	possibly damaging	Het
Ttbk1	T	A	17: 46,757,164 (GRCm39)	M1157L	probably benign	Het
Ttn	T	C	2: 76,578,489 (GRCm39)	T24135A	probably damaging	Het
Ttn	T	C	2: 76,795,481 (GRCm39)	E632G	unknown	Het
Ttn	T	C	2: 76,547,559 (GRCm39)	T32204A	probably benign	Het
Vmn2r109	T	C	17: 20,760,782 (GRCm39)	I858M	probably benign	Het
Vmn2r71	A	T	7: 85,272,869 (GRCm39)	Q561L	possibly damaging	Het
Yme1l1	A	G	2: 23,071,077 (GRCm39)	D271G	probably damaging	Het
Zfp629	A	G	7: 127,211,167 (GRCm39)	F214S	probably damaging	Het
Zfp709	A	G	8: 72,643,308 (GRCm39)	I246V	probably benign	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
R7144:Sh3bp2	UTSW	5	34,718,975 (GRCm39)	missense	probably benign	0.00
R7536:Sh3bp2	UTSW	5	34,700,901 (GRCm39)	missense	probably benign
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

Posted On

2019-12-20