Mutagenetix > Incidental Mutation

Incidental Mutation 'R0707:Sh2b2'

63164

Institutional Source

Beutler Lab

Gene Symbol

Sh2b2

Ensembl Gene

ENSMUSG00000005057

Gene Name

SH2B adaptor protein 2

Synonyms

Aps

MMRRC Submission

038890-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R0707 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

136247001-136275410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136261117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 33 (F33S)

Ref Sequence

ENSEMBL: ENSMUSP00000142398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005188] [ENSMUST00000196245] [ENSMUST00000196397] [ENSMUST00000196447]

AlphaFold

Q9JID9

Predicted Effect

probably damaging
Transcript: ENSMUST00000005188
AA Change: F33S

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

SMART Domains

Protein: ENSMUSP00000005188
Gene: ENSMUSG00000005057
AA Change: F33S

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

possibly damaging
Transcript: ENSMUST00000196245
AA Change: F33S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000196397
AA Change: F33S

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

SMART Domains

Protein: ENSMUSP00000142398
Gene: ENSMUSG00000005057
AA Change: F33S

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: F33S

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

SMART Domains

Protein: ENSMUSP00000142728
Gene: ENSMUSG00000005057
AA Change: F33S

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

Meta Mutation Damage Score

0.9316

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,617,329 (GRCm39)	F259S	probably damaging	Het
Aldh16a1	T	A	7: 44,793,931 (GRCm39)		probably benign	Het
Ankrd24	A	T	10: 81,478,547 (GRCm39)		probably benign	Het
Arhgap5	T	C	12: 52,564,951 (GRCm39)	S641P	probably damaging	Het
Arpp21	A	C	9: 111,986,824 (GRCm39)	S242R	probably benign	Het
Bpifb5	A	G	2: 154,070,820 (GRCm39)	T204A	probably benign	Het
Bud31	A	G	5: 145,083,265 (GRCm39)	Y77C	probably damaging	Het
Ccdc65	G	A	15: 98,607,095 (GRCm39)	V101I	possibly damaging	Het
Ccr7	T	A	11: 99,036,809 (GRCm39)	T38S	probably damaging	Het
Cdc14a	T	C	3: 116,087,362 (GRCm39)		probably benign	Het
Ces2f	C	T	8: 105,677,618 (GRCm39)	H208Y	possibly damaging	Het
Chst1	C	A	2: 92,443,964 (GRCm39)	N145K	possibly damaging	Het
Clock	A	G	5: 76,374,976 (GRCm39)	V731A	possibly damaging	Het
Cog6	C	T	3: 52,921,283 (GRCm39)	V108I	possibly damaging	Het
Cplane1	T	A	15: 8,287,805 (GRCm39)	N2881K	unknown	Het
Crtc2	T	A	3: 90,170,804 (GRCm39)	F626I	probably damaging	Het
Dicer1	A	T	12: 104,673,144 (GRCm39)	F792I	probably damaging	Het
Dnajc13	T	C	9: 104,049,781 (GRCm39)	K1780R	probably benign	Het
Dph5	A	C	3: 115,708,782 (GRCm39)	N155H	probably benign	Het
Dscam	T	C	16: 96,626,982 (GRCm39)		probably null	Het
Etl4	C	A	2: 20,810,382 (GRCm39)		probably benign	Het
Flt3l	T	C	7: 44,785,450 (GRCm39)	S9G	probably benign	Het
Fmnl2	A	G	2: 52,944,498 (GRCm39)	E159G	possibly damaging	Het
Fryl	A	G	5: 73,240,715 (GRCm39)	I1295T	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Herc6	G	A	6: 57,639,347 (GRCm39)	G905E	possibly damaging	Het
Hhip	T	A	8: 80,724,884 (GRCm39)	N296I	probably damaging	Het
Hmgcr	A	T	13: 96,787,151 (GRCm39)		probably benign	Het
Kalrn	T	G	16: 33,830,951 (GRCm39)	N723H	possibly damaging	Het
Mroh5	T	A	15: 73,662,588 (GRCm39)	Y242F	possibly damaging	Het
Msh3	T	A	13: 92,483,848 (GRCm39)	K258*	probably null	Het
Myo1a	T	C	10: 127,555,732 (GRCm39)		probably benign	Het
Nlrp4f	C	T	13: 65,342,317 (GRCm39)	E443K	probably benign	Het
Nupr2	A	G	5: 129,937,533 (GRCm39)	Y34C	probably damaging	Het
Ociad1	T	C	5: 73,452,255 (GRCm39)		probably benign	Het
Or1af1	A	T	2: 37,110,208 (GRCm39)	K236*	probably null	Het
Or5af2	T	A	11: 58,708,577 (GRCm39)	L248M	probably damaging	Het
Or5b3	A	T	19: 13,388,784 (GRCm39)	M284L	probably benign	Het
Or5p5	A	G	7: 107,414,331 (GRCm39)	D182G	probably damaging	Het
Or6ae1	T	C	7: 139,742,002 (GRCm39)	N287S	probably damaging	Het
P2ry12	C	A	3: 59,124,908 (GRCm39)	V256F	probably damaging	Het
Pcdhb22	T	A	18: 37,651,904 (GRCm39)	I124N	probably damaging	Het
Pcnt	A	G	10: 76,256,375 (GRCm39)	F622L	probably damaging	Het
Pfas	A	T	11: 68,888,863 (GRCm39)	N361K	probably benign	Het
Plod2	T	G	9: 92,487,480 (GRCm39)	L600V	possibly damaging	Het
Pole	T	C	5: 110,446,854 (GRCm39)	Y631H	probably damaging	Het
Proser1	T	C	3: 53,386,197 (GRCm39)	L693P	probably damaging	Het
Ptprd	A	G	4: 75,875,476 (GRCm39)	Y1195H	probably damaging	Het
Rbm27	T	A	18: 42,459,091 (GRCm39)		probably null	Het
Ric8a	A	G	7: 140,437,886 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rimkla	C	T	4: 119,335,177 (GRCm39)	V69M	probably damaging	Het
Scfd1	A	T	12: 51,459,360 (GRCm39)	K307M	probably damaging	Het
Smg7	T	G	1: 152,746,508 (GRCm39)		probably null	Het
Srebf1	T	C	11: 60,094,942 (GRCm39)	T486A	probably benign	Het
Strn3	G	A	12: 51,657,187 (GRCm39)	T642I	probably damaging	Het
Syne2	T	C	12: 76,028,837 (GRCm39)		probably null	Het
Syne3	A	G	12: 104,935,619 (GRCm39)	L53P	probably damaging	Het
Tcea1	T	A	1: 4,950,569 (GRCm39)		probably benign	Het
Tmem30b	T	C	12: 73,592,942 (GRCm39)	N58D	probably benign	Het
Tnpo1	A	G	13: 98,991,954 (GRCm39)	Y641H	probably damaging	Het
Trim25	A	T	11: 88,890,564 (GRCm39)	T84S	probably benign	Het
Trip4	A	T	9: 65,746,286 (GRCm39)	F537I	possibly damaging	Het
Uaca	G	A	9: 60,755,900 (GRCm39)		probably benign	Het
Ugt2b34	T	A	5: 87,040,758 (GRCm39)	Y388F	possibly damaging	Het
Vmn2r71	T	C	7: 85,268,640 (GRCm39)	V281A	probably benign	Het
Vps13d	A	T	4: 144,882,502 (GRCm39)	D1030E	probably damaging	Het
Vps8	C	A	16: 21,261,107 (GRCm39)	F82L	probably damaging	Het
Zfp296	A	G	7: 19,313,661 (GRCm39)	D172G	probably benign	Het
Zfp977	C	A	7: 42,229,958 (GRCm39)	C189F	probably damaging	Het

Other mutations in Sh2b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Sh2b2	APN	5	136,253,273 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCATGTTACGCAGCGAGAATCCC -3'
(R):5'- TCTGTGGTGGACAGACGATATCCC -3'

Sequencing Primer
(F):5'- AGTCTTGAGCGCAGATGTCAC -3'
(R):5'- aaaaaaaagaagaaaaaagggaggg -3'

Posted On

2013-07-30