Mutagenetix > Incidental Mutation

Incidental Mutation 'R0827:Gab2'

78315

Institutional Source

Beutler Lab

Gene Symbol

Gab2

Ensembl Gene

ENSMUSG00000004508

Gene Name

growth factor receptor bound protein 2-associated protein 2

Synonyms

p97, D130058I17Rik

MMRRC Submission

039007-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R0827 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96730958-96958158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96949539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 411 (R411Q)

Ref Sequence

ENSEMBL: ENSMUSP00000004622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004622] [ENSMUST00000206791]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000004622
AA Change: R411Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000004622
Gene: ENSMUSG00000004508
AA Change: R411Q

Domain	Start	End	E-Value	Type
PH	9	121	1.07e-22	SMART
Blast:PH	268	314	4e-11	BLAST
low complexity region	348	355	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206791
AA Change: R411Q

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.6%

Validation Efficiency

100% (88/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impairments in passive cutaneous and systemic anaphylaxis, Fc gamma receptor-mediated phagocytosis, and mast cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,749,419 (GRCm39)	S1397P	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ankk1	A	G	9: 49,333,037 (GRCm39)	I149T	possibly damaging	Het
Ankrd63	A	G	2: 118,533,034 (GRCm39)	S296P	possibly damaging	Het
Arpc1b	T	G	5: 145,062,566 (GRCm39)	C227G	probably benign	Het
B4gat1	A	G	19: 5,089,725 (GRCm39)	R241G	possibly damaging	Het
Ccar2	T	C	14: 70,377,287 (GRCm39)	N751D	probably benign	Het
Cd55b	T	C	1: 130,341,973 (GRCm39)	I221M	probably damaging	Het
Cntn5	A	G	9: 9,666,943 (GRCm39)	V1032A	possibly damaging	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Colec10	G	A	15: 54,325,980 (GRCm39)	C270Y	probably damaging	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cyp2j12	T	G	4: 96,001,099 (GRCm39)		probably benign	Het
Dennd5a	G	A	7: 109,498,938 (GRCm39)	T999M	probably damaging	Het
Dusp13b	C	A	14: 21,792,839 (GRCm39)	V29L	probably benign	Het
Efr3a	A	C	15: 65,725,400 (GRCm39)	D83A	possibly damaging	Het
Elmod2	A	G	8: 84,043,424 (GRCm39)		probably null	Het
Eml3	C	A	19: 8,915,830 (GRCm39)	T640K	probably damaging	Het
Eps8l1	T	C	7: 4,480,388 (GRCm39)	V543A	possibly damaging	Het
Ermn	T	C	2: 57,938,263 (GRCm39)	K117E	probably damaging	Het
F830045P16Rik	A	G	2: 129,314,696 (GRCm39)	S194P	probably benign	Het
Faim2	A	G	15: 99,422,617 (GRCm39)	V60A	probably benign	Het
Fancd2	G	A	6: 113,563,210 (GRCm39)		probably null	Het
Fbxo43	A	T	15: 36,163,115 (GRCm39)	S31T	possibly damaging	Het
Gpm6a	A	T	8: 55,511,918 (GRCm39)	D264V	probably damaging	Het
H1f6	A	G	13: 23,880,204 (GRCm39)	D119G	probably benign	Het
Hsp90aa1	T	C	12: 110,659,129 (GRCm39)	E556G	probably benign	Het
Ifi203	A	T	1: 173,756,029 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnc3	A	G	7: 44,244,630 (GRCm39)	T307A	probably damaging	Het
Kin	C	A	2: 10,095,187 (GRCm39)		probably benign	Het
Knl1	T	C	2: 118,919,382 (GRCm39)		probably benign	Het
Lrp4	G	A	2: 91,325,386 (GRCm39)	V1404M	probably damaging	Het
Lrrc71	T	A	3: 87,649,952 (GRCm39)		probably null	Het
Med13l	T	C	5: 118,864,312 (GRCm39)		probably benign	Het
Mfap5	A	G	6: 122,497,879 (GRCm39)	D39G	probably damaging	Het
Mlxipl	T	C	5: 135,161,592 (GRCm39)	S504P	probably benign	Het
Myo3a	T	G	2: 22,448,227 (GRCm39)	Y1D	probably damaging	Het
Nek1	A	G	8: 61,558,682 (GRCm39)		probably benign	Het
Nfkbiz	T	C	16: 55,636,730 (GRCm39)	R524G	probably damaging	Het
Npbwr1	T	C	1: 5,987,008 (GRCm39)	T169A	possibly damaging	Het
Nuggc	T	C	14: 65,846,340 (GRCm39)	Y84H	probably damaging	Het
Nxph3	G	A	11: 95,402,252 (GRCm39)	S54L	probably benign	Het
Or13a21	A	G	7: 139,999,380 (GRCm39)	F102S	probably damaging	Het
Or9e1	T	C	11: 58,732,597 (GRCm39)	I219T	probably damaging	Het
Ostn	A	G	16: 27,143,381 (GRCm39)	N70D	probably damaging	Het
Pate7	A	T	9: 35,689,147 (GRCm39)	L12Q	probably damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pnpla6	A	T	8: 3,567,618 (GRCm39)	M109L	possibly damaging	Het
Ppil6	T	A	10: 41,370,500 (GRCm39)		probably benign	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Ptprd	A	T	4: 76,047,152 (GRCm39)	D371E	probably damaging	Het
Ripor2	T	A	13: 24,878,169 (GRCm39)	F315I	probably damaging	Het
Rmi2	G	A	16: 10,653,104 (GRCm39)	G51S	probably damaging	Het
Scg3	A	G	9: 75,590,979 (GRCm39)	I10T	possibly damaging	Het
Scn9a	T	A	2: 66,366,468 (GRCm39)	K761*	probably null	Het
Scyl2	A	G	10: 89,493,727 (GRCm39)	L347P	possibly damaging	Het
Sh3d21	A	G	4: 126,046,064 (GRCm39)		probably benign	Het
Shc1	T	A	3: 89,334,090 (GRCm39)		probably null	Het
Slbp	A	G	5: 33,801,166 (GRCm39)	S182P	probably damaging	Het
Slc24a1	C	T	9: 64,835,472 (GRCm39)	G885D	probably benign	Het
Slc24a3	T	C	2: 145,360,412 (GRCm39)		probably benign	Het
Sowahb	T	G	5: 93,191,145 (GRCm39)	N525H	probably damaging	Het
Sppl3	T	A	5: 115,220,392 (GRCm39)	C101*	probably null	Het
Srsf5	A	G	12: 80,996,314 (GRCm39)	K163E	probably damaging	Het
Sult2a4	A	G	7: 13,718,886 (GRCm39)	I119T	probably benign	Het
Svep1	A	G	4: 58,053,113 (GRCm39)		probably benign	Het
Tas1r3	G	A	4: 155,945,326 (GRCm39)	R632W	probably benign	Het
Tlr4	T	A	4: 66,752,117 (GRCm39)		probably null	Het
Tmf1	A	C	6: 97,135,011 (GRCm39)	L1001*	probably null	Het
Tnnt2	A	G	1: 135,771,534 (GRCm39)		probably benign	Het
Trank1	G	A	9: 111,178,485 (GRCm39)		probably benign	Het
Trdn	A	T	10: 33,275,154 (GRCm39)		probably benign	Het
Trmt6	A	T	2: 132,657,754 (GRCm39)	V34E	probably damaging	Het
Trrap	T	C	5: 144,751,640 (GRCm39)	F1699L	probably benign	Het
Ttk	A	G	9: 83,725,968 (GRCm39)	R250G	probably benign	Het
Ttn	T	A	2: 76,640,248 (GRCm39)	I13787F	probably damaging	Het
Uggt1	T	A	1: 36,195,394 (GRCm39)		probably null	Het
Ugt2b35	T	A	5: 87,155,989 (GRCm39)		probably benign	Het
Ugt2b36	C	A	5: 87,214,234 (GRCm39)	R470L	possibly damaging	Het
Unk	A	G	11: 115,943,935 (GRCm39)	D352G	possibly damaging	Het
Vmn2r77	G	T	7: 86,451,224 (GRCm39)	C370F	probably damaging	Het
Vmn2r85	A	G	10: 130,265,387 (GRCm39)	I32T	possibly damaging	Het
Zfp637	A	G	6: 117,822,405 (GRCm39)	I178V	possibly damaging	Het
Zfp943	A	G	17: 22,211,071 (GRCm39)		probably null	Het
Zyg11a	A	G	4: 108,067,239 (GRCm39)		probably benign	Het

Other mutations in Gab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Gab2	APN	7	96,951,650 (GRCm39)	missense	possibly damaging	0.91
IGL00325:Gab2	APN	7	96,948,465 (GRCm39)	missense	probably damaging	1.00
IGL01832:Gab2	APN	7	96,953,445 (GRCm39)	missense	probably damaging	1.00
IGL01955:Gab2	APN	7	96,953,430 (GRCm39)	missense	probably damaging	1.00
IGL02664:Gab2	APN	7	96,953,389 (GRCm39)	missense	probably damaging	1.00
R0105:Gab2	UTSW	7	96,948,279 (GRCm39)	missense	probably damaging	1.00
R0105:Gab2	UTSW	7	96,948,279 (GRCm39)	missense	probably damaging	1.00
R0243:Gab2	UTSW	7	96,948,448 (GRCm39)	missense	probably damaging	0.96
R1696:Gab2	UTSW	7	96,872,840 (GRCm39)	missense	probably damaging	1.00
R1872:Gab2	UTSW	7	96,948,250 (GRCm39)	missense	probably damaging	0.99
R2973:Gab2	UTSW	7	96,872,759 (GRCm39)	missense	probably benign	0.07
R3195:Gab2	UTSW	7	96,921,236 (GRCm39)	missense	probably benign
R3827:Gab2	UTSW	7	96,872,948 (GRCm39)	missense	probably damaging	1.00
R3910:Gab2	UTSW	7	96,948,280 (GRCm39)	missense	probably damaging	1.00
R3911:Gab2	UTSW	7	96,948,280 (GRCm39)	missense	probably damaging	1.00
R3912:Gab2	UTSW	7	96,948,280 (GRCm39)	missense	probably damaging	1.00
R4604:Gab2	UTSW	7	96,953,420 (GRCm39)	missense	probably damaging	0.99
R5506:Gab2	UTSW	7	96,952,320 (GRCm39)	missense	probably damaging	1.00
R5655:Gab2	UTSW	7	96,948,099 (GRCm39)	missense	probably benign
R6299:Gab2	UTSW	7	96,731,066 (GRCm39)	missense	probably benign	0.00
R7038:Gab2	UTSW	7	96,952,290 (GRCm39)	missense	probably damaging	1.00
R7313:Gab2	UTSW	7	96,731,005 (GRCm39)	start gained	probably benign
R7586:Gab2	UTSW	7	96,950,645 (GRCm39)	missense	probably damaging	1.00
R7729:Gab2	UTSW	7	96,950,633 (GRCm39)	missense	probably damaging	1.00
R8434:Gab2	UTSW	7	96,948,337 (GRCm39)	missense	probably damaging	1.00
R9507:Gab2	UTSW	7	96,953,448 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATCCAGTTTAGAACTCTGCCG -3'
(R):5'- GCAGTTCCTGAGGGAAATGCCATC -3'

Sequencing Primer
(F):5'- TTACCAAAGTATTCCCAGAGGTGAG -3'
(R):5'- GAGGGAAATGCCATCATTCTTCG -3'

Posted On

2013-10-16