Mutagenetix > Incidental Mutation

Incidental Mutation 'R9687:Sh3bp2'

728901

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp2

Ensembl Gene

ENSMUSG00000054520

Gene Name

SH3-domain binding protein 2

Synonyms

3BP2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34525838-34563641 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34559633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 463 (P463S)

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: P407S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000070890
Gene: ENSMUSG00000054520
AA Change: P407S

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: P451S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000098874
Gene: ENSMUSG00000054520
AA Change: P451S

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: P463S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112554
Gene: ENSMUSG00000054520
AA Change: P463S

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: P407S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000136671
Gene: ENSMUSG00000054520
AA Change: P407S

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,948,422	L446P	probably damaging	Het
Abcc9	T	C	6: 142,633,163	T927A	probably benign	Het
Abraxas2	A	G	7: 132,880,848	T258A	probably benign	Het
Akna	A	T	4: 63,374,437	C1078*	probably null	Het
Arhgap24	T	A	5: 102,846,156	F34L	probably benign	Het
Cpa5	C	T	6: 30,614,042	T61I	probably benign	Het
Crebrf	A	G	17: 26,763,627	*654W	probably null	Het
Dchs1	C	A	7: 105,757,984	R2134L	probably damaging	Het
Dcps	T	C	9: 35,124,682	N303D	probably damaging	Het
Ddhd1	C	T	14: 45,610,733	E527K	probably damaging	Het
Dnah14	T	A	1: 181,598,413	M174K	probably benign	Het
Ehd1	A	G	19: 6,298,300	D436G		Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Etv1	T	C	12: 38,861,362	Y396H	probably damaging	Het
Fam189a2	A	G	19: 23,979,665	I327T	probably damaging	Het
Fbxo11	A	G	17: 88,009,066	I293T		Het
Gcfc2	T	A	6: 81,941,342	S338T	probably damaging	Het
Gm10272	T	C	10: 77,706,930	V102A	possibly damaging	Het
Gm11110	T	C	17: 57,103,439	T20A	unknown	Het
Gm17359	G	A	3: 79,429,992	D36N	possibly damaging	Het
Gna14	G	A	19: 16,604,986	R206Q		Het
Gpm6a	T	C	8: 55,050,174	Y153H	possibly damaging	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
H2-M10.6	G	A	17: 36,814,255	V313I	probably benign	Het
Igkv8-19	T	C	6: 70,341,021	I74V	probably benign	Het
Kif24	A	G	4: 41,428,546	L138P	probably damaging	Het
Kif26a	A	G	12: 112,177,191	E1293G	probably damaging	Het
Lrp1	A	C	10: 127,566,693	L2203R	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Myo1h	A	T	5: 114,320,708	D184V		Het
Ncdn	G	A	4: 126,748,674	R397W	probably damaging	Het
Ncor1	A	T	11: 62,369,367	I519N	possibly damaging	Het
Obsl1	A	G	1: 75,503,026	V575A	probably damaging	Het
Olfr1031	G	T	2: 85,991,876	V20L	probably benign	Het
Olfr1351	T	A	10: 79,018,009	I229N	probably damaging	Het
Olfr1387	T	C	11: 49,459,691	F4S	probably benign	Het
Osbpl5	A	G	7: 143,693,861	Y747H	possibly damaging	Het
Pcdh18	T	A	3: 49,756,587	D93V	probably damaging	Het
Ppef2	T	A	5: 92,238,887	D397V	probably benign	Het
Ppfia4	G	A	1: 134,317,956	T620I	probably benign	Het
Ppp1r9a	T	C	6: 4,905,978	S178P	probably damaging	Het
Ptchd4	A	G	17: 42,502,576	Y456C	probably damaging	Het
Pxk	A	G	14: 8,151,567	I461V	possibly damaging	Het
Rab18	T	A	18: 6,784,622	N104K	probably benign	Het
Sars	A	G	3: 108,435,905	L90P	probably benign	Het
Scaf8	T	A	17: 3,171,135	I299N	unknown	Het
Slc12a3	A	G	8: 94,348,580	N734S	possibly damaging	Het
Slc12a7	G	T	13: 73,790,677	R191L	probably damaging	Het
Slc7a12	A	G	3: 14,480,900	Y35C	possibly damaging	Het
Susd4	A	G	1: 182,895,197		probably null	Het
Taar7f	G	A	10: 24,049,829	R107K	probably benign	Het
Tarm1	T	C	7: 3,495,941	T237A	probably benign	Het
Tshr	C	A	12: 91,537,665	A459E	probably damaging	Het
Tubgcp5	G	T	7: 55,825,579		probably null	Het
Unc13b	T	C	4: 43,174,920	V1916A	unknown	Het
Unc45b	A	G	11: 82,919,736	D274G	probably damaging	Het
Vmn1r230	T	A	17: 20,847,342	Y264*	probably null	Het
Vmn2r109	G	T	17: 20,555,070	Q132K		Het
Zbtb20	A	G	16: 43,609,797	S151G	possibly damaging	Het
Zbtb22	A	C	17: 33,917,876	T332P	probably damaging	Het
Zc3h6	A	G	2: 129,017,361	D1104G	probably damaging	Het
Zfp748	A	G	13: 67,542,352	V263A	probably benign	Het
Zhx3	A	C	2: 160,781,758	V163G	probably benign	Het

Other mutations in Sh3bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01845:Sh3bp2	APN	5	34556003	missense	probably damaging	0.99
IGL02478:Sh3bp2	APN	5	34551662	missense	probably damaging	1.00
IGL03196:Sh3bp2	APN	5	34557343	missense	probably damaging	1.00
IGL03329:Sh3bp2	APN	5	34559202	missense	probably benign	0.00
R0718:Sh3bp2	UTSW	5	34555495	missense	probably damaging	0.99
R1322:Sh3bp2	UTSW	5	34555493	missense	probably damaging	1.00
R1501:Sh3bp2	UTSW	5	34555576	critical splice donor site	probably null
R1573:Sh3bp2	UTSW	5	34560690	missense	probably benign	0.01
R1649:Sh3bp2	UTSW	5	34559004	missense	possibly damaging	0.61
R1939:Sh3bp2	UTSW	5	34551619	missense	probably damaging	1.00
R2021:Sh3bp2	UTSW	5	34544225	critical splice acceptor site	probably benign
R2372:Sh3bp2	UTSW	5	34559496	missense	probably benign	0.00
R2903:Sh3bp2	UTSW	5	34543556	nonsense	probably null
R3709:Sh3bp2	UTSW	5	34551658	missense	probably damaging	1.00
R4344:Sh3bp2	UTSW	5	34555542	missense	possibly damaging	0.86
R4391:Sh3bp2	UTSW	5	34549718	missense	probably benign
R5068:Sh3bp2	UTSW	5	34556967	missense	probably benign	0.00
R5637:Sh3bp2	UTSW	5	34561048	missense	possibly damaging	0.69
R5658:Sh3bp2	UTSW	5	34556947	missense	probably damaging	1.00
R6005:Sh3bp2	UTSW	5	34562465	missense	possibly damaging	0.65
R6014:Sh3bp2	UTSW	5	34559627	missense	probably benign	0.00
R6391:Sh3bp2	UTSW	5	34561603	missense	probably damaging	1.00
R6737:Sh3bp2	UTSW	5	34562474	missense	probably damaging	1.00
R7144:Sh3bp2	UTSW	5	34561631	missense	probably benign	0.00
R7536:Sh3bp2	UTSW	5	34543557	missense	probably benign
R7871:Sh3bp2	UTSW	5	34559085	missense	not run
R8775:Sh3bp2	UTSW	5	34562407	missense	probably damaging	1.00
R8775-TAIL:Sh3bp2	UTSW	5	34562407	missense	probably damaging	1.00
R9052:Sh3bp2	UTSW	5	34551820	intron	probably benign
R9180:Sh3bp2	UTSW	5	34561033	nonsense	probably null
R9350:Sh3bp2	UTSW	5	34561109	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGACAAACTCAAGTCATTCCAC -3'
(R):5'- GGATGCACAAGGCTAGACATC -3'

Sequencing Primer
(F):5'- AACTCAAGTCATTCCACCTGTC -3'
(R):5'- AGGCTAGACATCACCCCC -3'

Posted On

2022-10-06