Mutagenetix > Incidental Mutation

Incidental Mutation 'R7586:Gab2'

587142

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

045668-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R7586 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96730958-96958158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96950645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 446 (P446L)

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: P446L

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

SMART Domains

Protein: ENSMUSP00000004622
Gene: ENSMUSG00000004508
AA Change: P446L

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

possibly damaging
Transcript: ENSMUST00000206791
AA Change: P446L

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.5031

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1a	C	T	9: 65,409,466 (GRCm39)		probably null	Het
Ankrd31	A	G	13: 96,968,562 (GRCm39)	E733G	possibly damaging	Het
Cars2	C	T	8: 11,580,321 (GRCm39)	W239*	probably null	Het
Catsperz	A	T	19: 6,899,929 (GRCm39)	L192*	probably null	Het
Ccdc168	G	A	1: 44,099,173 (GRCm39)	R642W	probably benign	Het
Cdh3	T	C	8: 107,237,975 (GRCm39)		probably null	Het
Cfh	C	T	1: 140,075,459 (GRCm39)	V260M	probably damaging	Het
Clcn4	T	A	7: 7,296,958 (GRCm39)	S227C	probably benign	Het
Cntn3	A	T	6: 102,397,388 (GRCm39)	W62R	probably damaging	Het
Col27a1	C	A	4: 63,143,278 (GRCm39)	A322D	probably damaging	Het
Egflam	C	T	15: 7,238,082 (GRCm39)	G934S	probably damaging	Het
Eloa	A	G	4: 135,734,510 (GRCm39)	V665A	probably damaging	Het
Epg5	A	G	18: 78,073,275 (GRCm39)	T2433A	probably benign	Het
Ercc5	A	G	1: 44,215,011 (GRCm39)	N848S	possibly damaging	Het
Fbrsl1	A	C	5: 110,526,020 (GRCm39)	F61V	probably damaging	Het
Fry	T	C	5: 150,349,683 (GRCm39)	Y1595H	probably damaging	Het
Fstl4	A	G	11: 52,963,256 (GRCm39)	N213D	probably benign	Het
Ganab	A	T	19: 8,888,716 (GRCm39)	Y552F	possibly damaging	Het
Gfy	C	T	7: 44,826,962 (GRCm39)	R378Q	probably damaging	Het
Gm3285	T	C	10: 77,697,875 (GRCm39)	V8A	unknown	Het
Grip1	A	T	10: 119,913,043 (GRCm39)		probably null	Het
Gtf3c3	A	G	1: 54,442,752 (GRCm39)	L764P	probably damaging	Het
Igfbp2	A	T	1: 72,888,307 (GRCm39)	M150L	probably benign	Het
Jakmip2	C	T	18: 43,673,676 (GRCm39)	R796Q	probably damaging	Het
Jpt1	T	A	11: 115,389,021 (GRCm39)	R141W	probably damaging	Het
Junb	T	C	8: 85,704,802 (GRCm39)	E86G	probably damaging	Het
Klhl41	A	T	2: 69,505,068 (GRCm39)	D457V	probably benign	Het
Lama2	T	C	10: 26,977,389 (GRCm39)	Y1930C	probably benign	Het
Med13	A	T	11: 86,161,828 (GRCm39)	I2167N	probably damaging	Het
Msh3	A	G	13: 92,485,840 (GRCm39)		probably benign	Het
Myo1b	A	C	1: 51,817,483 (GRCm39)	I593S	probably damaging	Het
Myo1c	A	T	11: 75,548,345 (GRCm39)	T16S	possibly damaging	Het
Ndufaf4	C	T	4: 24,901,829 (GRCm39)	L126F	probably damaging	Het
Nlrp9a	A	T	7: 26,256,721 (GRCm39)	N113I	possibly damaging	Het
Or5d43	T	A	2: 88,104,794 (GRCm39)	I200F	probably damaging	Het
Or5g23	G	C	2: 85,438,528 (GRCm39)	S242C	probably damaging	Het
Or5p6	T	A	7: 107,631,128 (GRCm39)	T141S	probably benign	Het
Pabpc6	A	T	17: 9,887,611 (GRCm39)	D313E	probably damaging	Het
Pcdhb2	G	T	18: 37,428,857 (GRCm39)	G277*	probably null	Het
Phkb	T	G	8: 86,756,226 (GRCm39)	V840G	probably damaging	Het
Pip4k2c	A	G	10: 127,034,955 (GRCm39)	F415S	probably damaging	Het
Ptprb	A	G	10: 116,179,779 (GRCm39)	E1112G	probably damaging	Het
Pum2	A	G	12: 8,797,206 (GRCm39)	D847G	probably damaging	Het
Qrich2	C	T	11: 116,346,450 (GRCm39)	R1458H	probably benign	Het
Rdh11	T	C	12: 79,231,957 (GRCm39)	Y199C	probably damaging	Het
Resf1	A	T	6: 149,228,291 (GRCm39)	N446Y	possibly damaging	Het
Scamp3	A	G	3: 89,087,673 (GRCm39)	Y171C	probably damaging	Het
Serpinb9b	T	C	13: 33,223,743 (GRCm39)	S312P	probably damaging	Het
Slain2	G	A	5: 73,123,165 (GRCm39)	S461N	probably benign	Het
Slc23a1	G	A	18: 35,758,891 (GRCm39)	T100I	probably damaging	Het
Spata31d1b	T	A	13: 59,866,194 (GRCm39)	I1114N	probably damaging	Het
Spinkl	A	G	18: 44,307,656 (GRCm39)	S2P	probably damaging	Het
Srrt	T	C	5: 137,300,457 (GRCm39)	N173S	probably damaging	Het
Stk24	C	T	14: 121,539,699 (GRCm39)	A166T	probably damaging	Het
Supt16	A	T	14: 52,411,013 (GRCm39)	V697E	probably damaging	Het
Taf6l	C	T	19: 8,761,210 (GRCm39)	E53K	probably damaging	Het
Tmem81	A	T	1: 132,435,511 (GRCm39)	I106F	probably damaging	Het
Tnxb	C	A	17: 34,935,382 (GRCm39)	L2561I	probably damaging	Het
Top3b	G	A	16: 16,709,232 (GRCm39)	R640H	probably benign	Het
Trpm7	A	T	2: 126,652,085 (GRCm39)	S1463T	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Tubal3	A	C	13: 3,978,198 (GRCm39)	D38A	possibly damaging	Het
Vps13a	T	A	19: 16,624,962 (GRCm39)	I2766F	probably benign	Het
Wwc1	A	T	11: 35,735,022 (GRCm39)	V951E	possibly damaging	Het
Zfp777	A	T	6: 48,006,152 (GRCm39)	M414K	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
R0827:Gab2	UTSW	7	96,949,539 (GRCm39)	missense	probably damaging	1.00
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
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'- GCAGAGCTCATTTCTCCTTGG -3'
(R):5'- ACCTTTTCTGTCAGGCTTGAGG -3'

Sequencing Primer
(F):5'- ACATCTTTATTTGATCTTCCCAAGG -3'
(R):5'- CAGGCTTGAGGTTTCGGTTGAC -3'

Posted On

2019-10-24