Mutagenetix > Incidental Mutation

Incidental Mutation 'R9364:Sh2b2'

708832

Institutional Source

Beutler Lab

Gene Symbol

Sh2b2

Ensembl Gene

ENSMUSG00000005057

Gene Name

SH2B adaptor protein 2

Synonyms

Aps

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R9364 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136247001-136275410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136253006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 389 (T389A)

Ref Sequence

ENSEMBL: ENSMUSP00000142728 (fasta)

Gene Model

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

AlphaFold

Q9JID9

Predicted Effect

probably null
Transcript: ENSMUST00000005188

SMART Domains

Protein: ENSMUSP00000005188
Gene: ENSMUSG00000005057

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 null
Transcript: ENSMUST00000196397

SMART Domains

Protein: ENSMUSP00000142398
Gene: ENSMUSG00000005057

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 benign
Transcript: ENSMUST00000196447
AA Change: T389A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142728
Gene: ENSMUSG00000005057
AA Change: T389A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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 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
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Ccdc136	C	T	6: 29,405,960 (GRCm39)	A102V	probably damaging	Het
Ccn4	G	A	15: 66,784,900 (GRCm39)	R191K	probably benign	Het
Ccnyl1	A	G	1: 64,753,750 (GRCm39)	Y187C	probably damaging	Het
Copa	G	A	1: 171,944,831 (GRCm39)	V882I	probably benign	Het
Cyp17a1	C	T	19: 46,657,165 (GRCm39)	R361H	probably damaging	Het
Ddx49	T	C	8: 70,746,226 (GRCm39)	T459A	probably benign	Het
Depdc5	A	G	5: 33,122,076 (GRCm39)	N1133S	probably benign	Het
Dnajc18	T	C	18: 35,808,260 (GRCm39)	D329G	probably damaging	Het
Dusp16	G	A	6: 134,695,982 (GRCm39)	P283L	probably damaging	Het
Efcab12	A	G	6: 115,814,975 (GRCm39)	V40A	probably benign	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Fam120b	G	A	17: 15,626,020 (GRCm39)	A458T	possibly damaging	Het
Fgd4	G	A	16: 16,308,353 (GRCm39)	T9I	probably benign	Het
Hivep1	G	A	13: 42,308,251 (GRCm39)	D164N	possibly damaging	Het
Klf13	T	A	7: 63,574,609 (GRCm39)		probably benign	Het
Lrrc47	T	C	4: 154,100,398 (GRCm39)	S325P	possibly damaging	Het
Mast3	C	T	8: 71,238,826 (GRCm39)	V493M	probably damaging	Het
Med22	T	C	2: 26,795,821 (GRCm39)	T200A	probably benign	Het
Mettl15	T	A	2: 108,961,960 (GRCm39)	Q216H	probably benign	Het
Mmel1	A	G	4: 154,976,967 (GRCm39)	D561G	probably null	Het
Ms4a4a	G	A	19: 11,367,708 (GRCm39)	M191I	probably benign	Het
Mtcl3	G	A	10: 29,072,775 (GRCm39)	R689Q	probably damaging	Het
Myh11	T	A	16: 14,018,580 (GRCm39)	N1922I		Het
Myo7b	T	C	18: 32,133,413 (GRCm39)	I371V	probably benign	Het
Myo9b	T	C	8: 71,808,483 (GRCm39)	S1697P	probably damaging	Het
Neurod4	T	C	10: 130,106,840 (GRCm39)	T145A	probably benign	Het
Nfx1	T	C	4: 41,023,756 (GRCm39)	V1055A	probably benign	Het
Ntng1	C	T	3: 110,042,680 (GRCm39)	A49T	probably damaging	Het
Oc90	G	A	15: 65,761,437 (GRCm39)	P194S	probably benign	Het
Opcml	A	C	9: 28,814,624 (GRCm39)	N292T	probably damaging	Het
Oplah	A	G	15: 76,193,787 (GRCm39)	S57P	probably benign	Het
Or1x6	T	A	11: 50,939,223 (GRCm39)	Y96*	probably null	Het
Or2a12	T	A	6: 42,904,534 (GRCm39)	I123N	probably damaging	Het
Or2aj4	T	A	16: 19,384,722 (GRCm39)	I304F	possibly damaging	Het
Or8k3b	A	T	2: 86,520,575 (GRCm39)	V248D	possibly damaging	Het
Pdzd8	A	T	19: 59,333,574 (GRCm39)	L149Q	probably damaging	Het
Pid1	A	G	1: 84,137,032 (GRCm39)	V33A	probably benign	Het
Prpsap1	A	G	11: 116,385,015 (GRCm39)		probably benign	Het
R3hdml	T	C	2: 163,334,535 (GRCm39)	W42R	probably benign	Het
Rnase6	A	T	14: 51,367,862 (GRCm39)	N85Y	possibly damaging	Het
Scn3a	T	A	2: 65,291,596 (GRCm39)	M1717L	possibly damaging	Het
Setbp1	C	T	18: 78,826,599 (GRCm39)	S1338N	probably benign	Het
Sh2d4a	G	A	8: 68,747,018 (GRCm39)	G82D	probably damaging	Het
Skint9	A	T	4: 112,248,915 (GRCm39)	M171K	probably benign	Het
Slc5a11	C	T	7: 122,868,324 (GRCm39)	R505W	probably damaging	Het
Slx4	C	A	16: 3,805,820 (GRCm39)	M577I	probably benign	Het
Tarbp1	C	T	8: 127,177,462 (GRCm39)	V737I	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem100	A	T	11: 89,926,533 (GRCm39)	E120V	probably damaging	Het
Trim72	C	T	7: 127,609,173 (GRCm39)	T325M	possibly damaging	Het
Trpc2	G	A	7: 101,739,819 (GRCm39)	G581D	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubn1	T	C	16: 4,888,492 (GRCm39)	S154P	unknown	Het
Uchl1	T	A	5: 66,833,649 (GRCm39)	M6K	probably damaging	Het
Vmn1r193	A	T	13: 22,403,989 (GRCm39)	M1K	probably null	Het
Zfp429	T	A	13: 67,538,531 (GRCm39)	K304N	probably benign	Het
Zfp618	A	G	4: 63,036,824 (GRCm39)	N375D	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp78	A	T	7: 6,382,354 (GRCm39)	D468V	probably benign	Het
Zfp809	A	C	9: 22,150,394 (GRCm39)	Y297S	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
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
R9554:Sh2b2	UTSW	5	136,253,006 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTCCTGAGTTCTGGGATTACTG -3'
(R):5'- GGATAAGAGACATGCTTCCCC -3'

Sequencing Primer
(F):5'- GGTGTGTACTAATGTCCCCAGATC -3'
(R):5'- ATTTCCCCTGCAGCAGACATG -3'

Posted On

2022-04-18