Mutagenetix > Incidental Mutation

Incidental Mutation 'R9350:Sh3bp2'

708006

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 #

R9350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34683182-34720985 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 34718453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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 null
Transcript: ENSMUST00000118545

SMART Domains

Protein: ENSMUSP00000112554
Gene: ENSMUSG00000054520

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

SMART Domains

Protein: ENSMUSP00000136671
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,022,669 (GRCm39)	M274L	probably benign	Het
Adarb1	T	A	10: 77,158,267 (GRCm39)	N60I	possibly damaging	Het
Adgrv1	T	A	13: 81,654,274 (GRCm39)	N2919I	probably damaging	Het
Adora3	C	T	3: 105,814,613 (GRCm39)	T121M	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,260 (GRCm39)	N423Y	probably damaging	Het
Arhgap19	A	T	19: 41,761,566 (GRCm39)	F466Y	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atxn7l1	C	T	12: 33,417,315 (GRCm39)	T492I	probably benign	Het
B3galnt2	T	C	13: 14,170,393 (GRCm39)	S248P	probably damaging	Het
Casp2	T	C	6: 42,246,332 (GRCm39)	V230A	probably benign	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Ctnnbl1	G	A	2: 157,651,445 (GRCm39)	G240E	possibly damaging	Het
Dennd2c	T	C	3: 103,039,308 (GRCm39)	L152P	possibly damaging	Het
Dhx16	T	A	17: 36,200,203 (GRCm39)	F874Y	probably damaging	Het
Dnah14	A	T	1: 181,562,369 (GRCm39)	Y2643F	possibly damaging	Het
Dnah2	C	A	11: 69,384,073 (GRCm39)	V1048L	probably benign	Het
Dnah7a	T	C	1: 53,436,307 (GRCm39)	I4012V	probably benign	Het
Duox2	G	A	2: 122,115,729 (GRCm39)	R1002*	probably null	Het
Ears2	T	A	7: 121,643,786 (GRCm39)	K391*	probably null	Het
Eif4e	T	C	3: 138,259,470 (GRCm39)	V176A	probably benign	Het
Erbb4	T	A	1: 68,329,638 (GRCm39)	I626L	probably benign	Het
Fam171a1	C	T	2: 3,226,037 (GRCm39)	T390I	probably benign	Het
Fam187b	A	G	7: 30,677,037 (GRCm39)	E182G	possibly damaging	Het
Fam204a	A	G	19: 60,209,685 (GRCm39)	V15A	probably benign	Het
Fscn3	C	T	6: 28,430,432 (GRCm39)	R201*	probably null	Het
Fzd6	A	G	15: 38,895,043 (GRCm39)	D403G	probably damaging	Het
Gars1	G	A	6: 55,029,249 (GRCm39)	A210T	probably null	Het
Gmcl1	A	T	6: 86,677,569 (GRCm39)	I428N	probably damaging	Het
Gmip	T	A	8: 70,263,832 (GRCm39)	I92N	probably damaging	Het
Il17rc	G	A	6: 113,456,048 (GRCm39)	V298I	probably damaging	Het
Kifap3	A	G	1: 163,610,630 (GRCm39)	I37V	probably benign	Het
Marf1	T	C	16: 13,963,789 (GRCm39)	K505E	probably damaging	Het
Masp2	A	T	4: 148,692,396 (GRCm39)		probably null	Het
Mmp15	G	A	8: 96,093,002 (GRCm39)	R127H	probably damaging	Het
Nrdc	A	G	4: 108,889,658 (GRCm39)	T402A	possibly damaging	Het
Or10d1c	A	T	9: 38,894,081 (GRCm39)	N86K	probably benign	Het
Or4k6	T	A	14: 50,475,407 (GRCm39)	I312L	probably benign	Het
Papln	A	T	12: 83,833,638 (GRCm39)	I1185F	probably damaging	Het
Pcdhgb1	A	G	18: 37,814,705 (GRCm39)	N399D	probably benign	Het
Pcdhgb6	T	A	18: 37,876,872 (GRCm39)	S527T	probably benign	Het
Phkb	T	A	8: 86,743,493 (GRCm39)	Y530*	probably null	Het
Pira2	A	G	7: 3,844,030 (GRCm39)	S581P	probably benign	Het
Pou4f3	A	T	18: 42,528,329 (GRCm39)	T91S	probably benign	Het
Prpf38a	A	G	4: 108,424,112 (GRCm39)	S296P	unknown	Het
Rnf213	T	C	11: 119,332,975 (GRCm39)	V2729A		Het
Rtl1	G	A	12: 109,557,226 (GRCm39)	Q1538*	probably null	Het
Sars2	T	C	7: 28,447,273 (GRCm39)	S224P	probably damaging	Het
Senp8	A	G	9: 59,645,105 (GRCm39)	V17A	probably benign	Het
Serpinb13	T	A	1: 106,923,562 (GRCm39)	L89*	probably null	Het
Shank2	A	G	7: 143,960,945 (GRCm39)	T254A	probably benign	Het
Smdt1	A	T	15: 82,231,504 (GRCm39)	E12D	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Taar2	A	G	10: 23,817,345 (GRCm39)	N295S	probably damaging	Het
Trim24	A	G	6: 37,892,208 (GRCm39)	Q247R	probably damaging	Het
Trpc4	T	A	3: 54,209,610 (GRCm39)	N658K	probably damaging	Het
Ube2e1	T	C	14: 18,284,348 (GRCm38)	D137G	probably damaging	Het
Ubn1	T	A	16: 4,899,422 (GRCm39)	H1055Q	probably benign	Het
Vmn1r235	A	G	17: 21,482,190 (GRCm39)	T172A	probably benign	Het
Vps13d	A	G	4: 144,882,333 (GRCm39)	F1087L		Het
Xirp2	T	C	2: 67,349,653 (GRCm39)	S3283P	probably damaging	Het
Zeb2	C	A	2: 44,887,158 (GRCm39)	S633I	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
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
R9687:Sh3bp2	UTSW	5	34,716,977 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GATAGCAGTGGGTCTGAATCG -3'
(R):5'- ATGGATGCTCACCCTCTTGC -3'

Sequencing Primer
(F):5'- GCTTTATAGCCTCTATTACAACCG -3'
(R):5'- CTCTGCACAAACCCCATTCTAATTC -3'

Posted On

2022-04-18