Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Sh2b2'

5522

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh2b2

Ensembl Gene

ENSMUSG00000005057

Gene Name

SH2B adaptor protein 2

Synonyms

Aps

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

136247001-136275410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136253273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 327 (E327G)

Ref Sequence

ENSEMBL: ENSMUSP00000142728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005188] [ENSMUST00000196397] [ENSMUST00000196447]

AlphaFold

Q9JID9

Predicted Effect

probably damaging
Transcript: ENSMUST00000005188
AA Change: E327G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005188
Gene: ENSMUSG00000005057
AA Change: E327G

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
Pfam:Phe_ZIP	17	73	9.3e-22	PFAM
Blast:PH	95	168	2e-21	BLAST
low complexity region	169	180	N/A	INTRINSIC
PH	187	301	4.97e-9	SMART
low complexity region	340	350	N/A	INTRINSIC
low complexity region	388	404	N/A	INTRINSIC
SH2	407	492	1.38e-21	SMART
low complexity region	509	525	N/A	INTRINSIC
low complexity region	548	576	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000196397
AA Change: E327G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142398
Gene: ENSMUSG00000005057
AA Change: E327G

Domain	Start	End	E-Value	Type
Pfam:Phe_ZIP	16	74	1.5e-30	PFAM
Blast:PH	95	168	2e-21	BLAST
low complexity region	169	180	N/A	INTRINSIC
PH	187	301	4.97e-9	SMART
low complexity region	340	350	N/A	INTRINSIC
low complexity region	388	404	N/A	INTRINSIC
SH2	407	492	1.38e-21	SMART
low complexity region	509	525	N/A	INTRINSIC
low complexity region	548	576	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000196447
AA Change: E327G

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

SMART Domains

Protein: ENSMUSP00000142728
Gene: ENSMUSG00000005057
AA Change: E327G

Domain	Start	End	E-Value	Type
Pfam:Phe_ZIP	16	74	9.1e-28	PFAM
Blast:PH	95	168	9e-22	BLAST
low complexity region	169	180	N/A	INTRINSIC
PH	187	301	2.2e-11	SMART
low complexity region	340	350	N/A	INTRINSIC
low complexity region	406	417	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197324

Coding Region Coverage

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 is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009]
PHENOTYPE: Inactivation of this gene results in increased insulin sensitivity accompanied by hypoinsulinemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,083,737 (GRCm39)	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,620,996 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,378,667 (GRCm39)	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,233,662 (GRCm39)		probably benign	Het
Apba3	C	T	10: 81,108,901 (GRCm39)	P555S	probably damaging	Het
Aplnr	A	G	2: 84,967,985 (GRCm39)	S337G	probably benign	Het
Arhgef40	A	G	14: 52,226,417 (GRCm39)	N154D	probably damaging	Het
Asb14	A	G	14: 26,633,998 (GRCm39)	K401R	probably benign	Het
Aspn	C	A	13: 49,719,968 (GRCm39)	T328K	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brca2	T	A	5: 150,463,363 (GRCm39)	H1042Q	probably benign	Het
C3	A	G	17: 57,533,004 (GRCm39)	L167P	probably benign	Het
Ccdc33	A	G	9: 57,977,257 (GRCm39)		probably benign	Het
Cdk10	T	A	8: 123,957,063 (GRCm39)	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,362,912 (GRCm39)		probably benign	Het
Chil3	T	A	3: 106,056,017 (GRCm39)	N352I	probably damaging	Het
Chn2	G	T	6: 54,272,907 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cpt1b	T	C	15: 89,305,066 (GRCm39)	E394G	probably benign	Het
Fcgr2b	T	A	1: 170,788,799 (GRCm39)	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,333,480 (GRCm39)	Q337*	probably null	Het
Fras1	T	A	5: 96,887,217 (GRCm39)	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,824,601 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr75	C	T	11: 30,841,590 (GRCm39)	T165I	probably damaging	Het
Gzmd	A	T	14: 56,367,737 (GRCm39)	C179S	probably damaging	Het
Hand1	T	G	11: 57,722,575 (GRCm39)	H13P	probably damaging	Het
Irak3	C	T	10: 120,013,972 (GRCm39)		probably null	Het
Isl2	T	A	9: 55,452,253 (GRCm39)	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,393,240 (GRCm39)	V367A	probably damaging	Het
Katna1	T	C	10: 7,638,758 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,184,450 (GRCm39)	M1627T	probably benign	Het
Naprt	A	G	15: 75,765,164 (GRCm39)	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,642,371 (GRCm39)	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,884,954 (GRCm39)	V252A	possibly damaging	Het
Or8k39	T	C	2: 86,563,579 (GRCm39)	I126V	possibly damaging	Het
Or9i16	C	T	19: 13,864,945 (GRCm39)	V210I	probably benign	Het
P2ry2	A	G	7: 100,647,393 (GRCm39)	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,674,593 (GRCm39)	N108D	probably benign	Het
Pdgfrl	A	G	8: 41,438,660 (GRCm39)	T199A	probably damaging	Het
Plaa	A	G	4: 94,470,844 (GRCm39)	Y431H	probably benign	Het
Pls1	A	T	9: 95,664,472 (GRCm39)	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,472,138 (GRCm39)	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,564,729 (GRCm39)		probably null	Het
Prpf4b	T	C	13: 35,067,890 (GRCm39)	S240P	probably benign	Het
Reg2	T	A	6: 78,383,204 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,682,965 (GRCm39)	T361I	probably benign	Het
Rps4l	A	G	6: 148,256,383 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,598,982 (GRCm39)	F1183I	probably damaging	Het
Shank2	A	G	7: 143,965,584 (GRCm39)	K1057R	probably damaging	Het
Sim2	T	A	16: 93,915,803 (GRCm39)	Y255*	probably null	Het
Snx9	A	G	17: 5,949,636 (GRCm39)	N112S	probably benign	Het
Sphkap	T	A	1: 83,258,237 (GRCm39)	I169F	probably damaging	Het
Spink5	A	G	18: 44,100,111 (GRCm39)	T43A	probably benign	Het
Stac2	C	T	11: 97,932,005 (GRCm39)	S265N	probably benign	Het
Tbx20	A	G	9: 24,670,044 (GRCm39)	V91A	probably damaging	Het
Tgfbr2	C	T	9: 115,939,257 (GRCm39)	R190H	probably damaging	Het
Ubr2	A	G	17: 47,301,916 (GRCm39)		probably null	Het
Wdfy3	C	T	5: 102,063,204 (GRCm39)		probably null	Het
Wdr82	T	C	9: 106,061,449 (GRCm39)	V166A	probably benign	Het
Zfhx4	C	T	3: 5,307,401 (GRCm39)	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,831,109 (GRCm39)	T299S	possibly damaging	Het

Other mutations in Sh2b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01456:Sh2b2	APN	5	136,253,321 (GRCm39)	missense	probably damaging	0.98
IGL01612:Sh2b2	APN	5	136,260,656 (GRCm39)	missense	probably benign	0.02
IGL02798:Sh2b2	APN	5	136,250,817 (GRCm39)	missense	probably damaging	1.00
BB002:Sh2b2	UTSW	5	136,253,115 (GRCm39)	missense	probably benign	0.04
BB012:Sh2b2	UTSW	5	136,253,115 (GRCm39)	missense	probably benign	0.04
R0492:Sh2b2	UTSW	5	136,261,117 (GRCm39)	missense	probably damaging	1.00
R0539:Sh2b2	UTSW	5	136,254,155 (GRCm39)	splice site	probably benign
R0707:Sh2b2	UTSW	5	136,261,117 (GRCm39)	missense	probably damaging	1.00
R1569:Sh2b2	UTSW	5	136,260,589 (GRCm39)	missense	possibly damaging	0.89
R1777:Sh2b2	UTSW	5	136,256,276 (GRCm39)	missense	probably damaging	1.00
R2088:Sh2b2	UTSW	5	136,260,968 (GRCm39)	missense	possibly damaging	0.87
R3702:Sh2b2	UTSW	5	136,253,087 (GRCm39)	missense	probably damaging	0.99
R4223:Sh2b2	UTSW	5	136,247,907 (GRCm39)	missense	possibly damaging	0.91
R4597:Sh2b2	UTSW	5	136,260,616 (GRCm39)	missense	probably damaging	0.99
R4683:Sh2b2	UTSW	5	136,260,574 (GRCm39)	missense	probably damaging	1.00
R4766:Sh2b2	UTSW	5	136,260,811 (GRCm39)	missense	probably damaging	0.99
R5486:Sh2b2	UTSW	5	136,260,944 (GRCm39)	missense	probably benign	0.10
R6060:Sh2b2	UTSW	5	136,261,209 (GRCm39)	missense	possibly damaging	0.72
R6322:Sh2b2	UTSW	5	136,253,042 (GRCm39)	missense	probably damaging	0.99
R7020:Sh2b2	UTSW	5	136,253,153 (GRCm39)	missense	possibly damaging	0.69
R7034:Sh2b2	UTSW	5	136,247,739 (GRCm39)	missense	probably benign	0.18
R7036:Sh2b2	UTSW	5	136,247,739 (GRCm39)	missense	probably benign	0.18
R7615:Sh2b2	UTSW	5	136,248,511 (GRCm39)	missense	probably damaging	1.00
R7715:Sh2b2	UTSW	5	136,247,889 (GRCm39)	missense	probably benign	0.09
R7925:Sh2b2	UTSW	5	136,253,115 (GRCm39)	missense	probably benign	0.04
R8244:Sh2b2	UTSW	5	136,256,291 (GRCm39)	nonsense	probably null
R8291:Sh2b2	UTSW	5	136,261,209 (GRCm39)	missense	possibly damaging	0.72
R8786:Sh2b2	UTSW	5	136,260,658 (GRCm39)	missense	probably benign	0.29
R9293:Sh2b2	UTSW	5	136,260,893 (GRCm39)	missense	possibly damaging	0.90
R9364:Sh2b2	UTSW	5	136,253,006 (GRCm39)	missense	probably benign	0.03
R9554:Sh2b2	UTSW	5	136,253,006 (GRCm39)	missense	probably benign	0.03

Posted On

2012-04-20