Mutagenetix > Incidental Mutation

Incidental Mutation 'R0751:Rac2'

70359

Institutional Source

Beutler Lab

Gene Symbol

Rac2

Ensembl Gene

ENSMUSG00000033220

Gene Name

Rac family small GTPase 2

Synonyms

MMRRC Submission

038931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78443369-78456983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 78450145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 65 (D65A)

Ref Sequence

ENSEMBL: ENSMUSP00000036384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043214] [ENSMUST00000229394]

AlphaFold

Q05144

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043214
AA Change: D65A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036384
Gene: ENSMUSG00000033220
AA Change: D65A

Domain	Start	End	E-Value	Type
RHO	6	179	3.36e-135	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229394

Predicted Effect

probably benign
Transcript: ENSMUST00000230952

Meta Mutation Damage Score

0.9109

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit peripheral blood lymphocytosis, reductions in peritoneal B-1a lymphocytes, marginal zone lymphocytes, and IgM-secreting plasma cells, decreased levels of serum IgM and IgA, and abnormal T cell migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	A	4: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alox12	T	C	11: 70,137,776 (GRCm39)	I455V	probably benign	Het
Ankrd28	A	G	14: 31,486,225 (GRCm39)	L89P	probably damaging	Het
Aqp9	A	T	9: 71,045,487 (GRCm39)	C41S	probably damaging	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Aspm	A	T	1: 139,384,636 (GRCm39)		probably benign	Het
Cacfd1	T	C	2: 26,908,993 (GRCm39)		probably null	Het
Cd33	T	C	7: 43,181,545 (GRCm39)	D205G	probably damaging	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Chtf8	A	G	8: 107,613,109 (GRCm39)		probably null	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Clock	A	T	5: 76,377,208 (GRCm39)	I696K	possibly damaging	Het
Crtc2	T	A	3: 90,169,940 (GRCm39)	Y445*	probably null	Het
Dapk1	A	T	13: 60,844,112 (GRCm39)	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,270,204 (GRCm39)		probably null	Het
Derl2	T	C	11: 70,905,373 (GRCm39)		probably null	Het
Dnah7c	A	G	1: 46,505,065 (GRCm39)	T154A	probably benign	Het
Dnmt3b	T	A	2: 153,516,762 (GRCm39)		probably null	Het
Dusp3	A	T	11: 101,872,554 (GRCm39)	S106T	probably benign	Het
Eftud2	A	G	11: 102,730,079 (GRCm39)	V897A	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Fbxo33	A	C	12: 59,265,878 (GRCm39)	F130V	probably damaging	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fig4	T	C	10: 41,148,978 (GRCm39)	D158G	probably damaging	Het
Fyco1	A	G	9: 123,648,218 (GRCm39)	F1239L	probably damaging	Het
Gabra2	A	G	5: 71,249,442 (GRCm39)		probably benign	Het
Gabra6	C	A	11: 42,205,844 (GRCm39)	R336S	probably benign	Het
Hkdc1	T	C	10: 62,234,452 (GRCm39)	D581G	probably damaging	Het
Ift70a2	C	T	2: 75,808,375 (GRCm39)	A46T	probably damaging	Het
Iqgap1	A	G	7: 80,375,321 (GRCm39)		probably benign	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lcp1	A	T	14: 75,436,827 (GRCm39)	M58L	probably benign	Het
Lrrc8a	T	C	2: 30,146,362 (GRCm39)	V392A	possibly damaging	Het
Mavs	A	T	2: 131,088,684 (GRCm39)	Y496F	probably damaging	Het
Mpi	A	T	9: 57,457,897 (GRCm39)	S102T	probably damaging	Het
Mroh9	G	A	1: 162,893,693 (GRCm39)	R161W	possibly damaging	Het
Myo1h	A	T	5: 114,458,747 (GRCm39)	S161C	probably damaging	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Nelfcd	C	A	2: 174,264,807 (GRCm39)	A182D	probably benign	Het
Ntsr2	G	T	12: 16,704,031 (GRCm39)	K91N	probably damaging	Het
Obscn	A	G	11: 58,972,645 (GRCm39)	S2134P	probably damaging	Het
Ogfod2	G	A	5: 124,251,539 (GRCm39)		probably benign	Het
Or13a19	G	A	7: 139,903,238 (GRCm39)	V209I	probably benign	Het
Or1e26	G	T	11: 73,479,970 (GRCm39)	T198K	probably benign	Het
Pcdha8	T	C	18: 37,127,123 (GRCm39)	V535A	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pik3r1	T	C	13: 101,822,866 (GRCm39)		probably null	Het
Pimreg	C	A	11: 71,933,939 (GRCm39)	Q22K	probably benign	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ppip5k2	A	T	1: 97,677,377 (GRCm39)	C306*	probably null	Het
Ptprc	A	G	1: 138,020,668 (GRCm39)	Y588H	probably damaging	Het
Rgl3	A	G	9: 21,888,676 (GRCm39)		probably null	Het
Serpinb1a	T	C	13: 33,027,199 (GRCm39)	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,443,757 (GRCm39)	E259A	probably benign	Het
Slc12a4	A	T	8: 106,678,532 (GRCm39)	V266E	probably damaging	Het
Slc8b1	A	G	5: 120,662,260 (GRCm39)		probably benign	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Ssb	T	A	2: 69,700,909 (GRCm39)	S330T	probably benign	Het
Stard9	G	T	2: 120,527,966 (GRCm39)	V1408F	probably benign	Het
Sumf2	A	T	5: 129,878,846 (GRCm39)	T61S	probably benign	Het
Sypl2	T	C	3: 108,124,072 (GRCm39)	T157A	probably damaging	Het
Tgfbr3	A	T	5: 107,287,749 (GRCm39)	D483E	probably damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Tradd	T	C	8: 105,986,403 (GRCm39)	E123G	probably damaging	Het
Trim36	T	C	18: 46,329,318 (GRCm39)	T41A	probably damaging	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Uqcc5	G	T	14: 30,810,953 (GRCm39)		probably benign	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vmn2r63	A	C	7: 42,577,459 (GRCm39)	F360V	probably damaging	Het
Vmn2r78	G	A	7: 86,603,588 (GRCm39)	V589M	possibly damaging	Het
Vmn2r-ps158	A	G	7: 42,696,833 (GRCm39)	Y630C	probably damaging	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		probably benign	Het

Other mutations in Rac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02931:Rac2	APN	15	78,454,947 (GRCm39)	missense	possibly damaging	0.79
Big_bend	UTSW	15	78,450,145 (GRCm39)	missense	possibly damaging	0.95
bingo	UTSW	15	78,449,168 (GRCm39)	missense	probably damaging	1.00
Lamb	UTSW	15	78,449,134 (GRCm39)	missense	possibly damaging	0.68
Migrant	UTSW	15	78,450,223 (GRCm39)	missense	probably damaging	0.96
Potter	UTSW	15	78,454,943 (GRCm39)	nonsense	probably null
Potter2	UTSW	15	78,449,654 (GRCm39)	missense	probably damaging	0.97
wheel	UTSW	15	78,450,206 (GRCm39)	missense	probably benign	0.29
R0557:Rac2	UTSW	15	78,449,174 (GRCm39)	missense	probably damaging	1.00
R0627:Rac2	UTSW	15	78,449,168 (GRCm39)	missense	probably damaging	1.00
R1184:Rac2	UTSW	15	78,450,145 (GRCm39)	missense	possibly damaging	0.95
R2349:Rac2	UTSW	15	78,449,675 (GRCm39)	missense	possibly damaging	0.51
R3816:Rac2	UTSW	15	78,450,199 (GRCm39)	missense	possibly damaging	0.75
R4436:Rac2	UTSW	15	78,454,943 (GRCm39)	nonsense	probably null
R5051:Rac2	UTSW	15	78,449,134 (GRCm39)	missense	possibly damaging	0.68
R5207:Rac2	UTSW	15	78,449,654 (GRCm39)	missense	probably damaging	0.97
R7384:Rac2	UTSW	15	78,446,131 (GRCm39)	nonsense	probably null
R8482:Rac2	UTSW	15	78,450,206 (GRCm39)	missense	probably benign	0.29
R8938:Rac2	UTSW	15	78,446,112 (GRCm39)	missense	probably damaging	0.98
R9231:Rac2	UTSW	15	78,450,223 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGCCTGGCACACACTGAGAAAG -3'
(R):5'- GTTGTGGAAACAGCCAGTTGCAC -3'

Sequencing Primer
(F):5'- CTCGGGGCATGGTGATACTC -3'
(R):5'- GGTCACAGTCCCTCTCTGAG -3'

Posted On

2013-09-30