Mutagenetix > Incidental Mutation

Incidental Mutation 'R3816:Rac2'

274328

Institutional Source

Beutler Lab

Gene Symbol

Rac2

Ensembl Gene

ENSMUSG00000033220

Gene Name

Rac family small GTPase 2

Synonyms

MMRRC Submission

040881-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78443369-78456983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78450199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 47 (D47G)

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: D47G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000036384
Gene: ENSMUSG00000033220
AA Change: D47G

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

0.4905

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

100% (62/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,024 (GRCm39)		probably benign	Het
Abca2	A	G	2: 25,336,083 (GRCm39)	Y2151C	probably damaging	Het
Adamts3	T	A	5: 89,853,123 (GRCm39)	H509L	probably damaging	Het
Agfg2	T	C	5: 137,652,036 (GRCm39)	D441G	probably benign	Het
Arl8b	T	A	6: 108,790,658 (GRCm39)	V65D	probably damaging	Het
As3mt	A	T	19: 46,696,216 (GRCm39)	D8V	probably benign	Het
Ass1	G	T	2: 31,400,117 (GRCm39)		probably benign	Het
Cdc42bpa	A	G	1: 179,972,451 (GRCm39)	I634V	possibly damaging	Het
Cflar	T	C	1: 58,791,582 (GRCm39)	V298A	probably benign	Het
Csmd1	C	T	8: 16,052,522 (GRCm39)	A2201T	probably damaging	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Dlec1	C	T	9: 118,953,911 (GRCm39)	A610V	probably damaging	Het
Dock1	C	T	7: 134,346,015 (GRCm39)	R186*	probably null	Het
E130018O15Rik	T	C	5: 35,540,110 (GRCm39)		noncoding transcript	Het
Gabrg3	G	A	7: 57,031,412 (GRCm39)	Q43*	probably null	Het
Gipc2	T	C	3: 151,871,481 (GRCm39)	K15R	probably benign	Het
Gjb2	A	G	14: 57,337,530 (GRCm39)	V226A	probably benign	Het
Glipr2	G	T	4: 43,977,522 (GRCm39)	A51S	possibly damaging	Het
Gsdme	A	C	6: 50,196,391 (GRCm39)	S340A	probably benign	Het
H2-M10.2	A	T	17: 36,597,254 (GRCm39)	Y20*	probably null	Het
Hapstr1	T	A	16: 8,648,358 (GRCm39)	I12N	probably damaging	Het
Hlcs	A	G	16: 93,933,947 (GRCm39)	V242A	probably benign	Het
Ifi44	T	C	3: 151,454,894 (GRCm39)	I110M	possibly damaging	Het
Il18r1	T	C	1: 40,526,132 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Khk	T	C	5: 31,084,060 (GRCm39)	S80P	probably damaging	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myo1g	A	G	11: 6,460,926 (GRCm39)	V706A	probably benign	Het
Npat	T	C	9: 53,481,216 (GRCm39)	S1008P	probably damaging	Het
Or2ag18	A	G	7: 106,405,027 (GRCm39)	I214T	probably damaging	Het
Or5p59	A	G	7: 107,702,705 (GRCm39)	Y63C	possibly damaging	Het
Or8b12c	C	T	9: 37,715,465 (GRCm39)	S86L	probably benign	Het
Or8b40	A	T	9: 38,027,922 (GRCm39)	T277S	possibly damaging	Het
Or8b55	A	G	9: 38,727,722 (GRCm39)	K308E	possibly damaging	Het
Pcdha2	A	G	18: 37,074,748 (GRCm39)	Y793C	probably benign	Het
Pcdhb4	A	T	18: 37,441,065 (GRCm39)	D125V	probably damaging	Het
Pdgfrb	A	G	18: 61,212,017 (GRCm39)	D844G	probably damaging	Het
Phf3	T	C	1: 30,844,834 (GRCm39)	D1375G	probably damaging	Het
Pigu	A	T	2: 155,141,063 (GRCm39)	F276I	probably damaging	Het
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Psmd9	C	T	5: 123,372,653 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sall1	G	T	8: 89,759,303 (GRCm39)	A267E	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpina3k	A	G	12: 104,307,221 (GRCm39)	E151G	probably benign	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Slc51b	A	G	9: 65,321,300 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Sspo	A	T	6: 48,458,037 (GRCm39)	E3269V	possibly damaging	Het
Star	G	A	8: 26,299,905 (GRCm39)	M82I	probably benign	Het
Tnfrsf11a	C	T	1: 105,737,085 (GRCm39)	T64I	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Usp32	A	G	11: 84,885,210 (GRCm39)		probably null	Het
Vmn2r18	T	C	5: 151,485,148 (GRCm39)	N782S	probably benign	Het
Vwa3a	A	G	7: 120,399,602 (GRCm39)	T1028A	probably benign	Het
Xrn2	G	A	2: 146,870,120 (GRCm39)	G270R	probably damaging	Het
Zbbx	G	T	3: 74,992,802 (GRCm39)	Q231K	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
R0751:Rac2	UTSW	15	78,450,145 (GRCm39)	missense	possibly damaging	0.95
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
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'- ATCTCGGGGCATGGTGATACTC -3'
(R):5'- TGGAAACAGCCAGTTGCAC -3'

Sequencing Primer
(F):5'- TGATACTCGGGGCAGCATG -3'
(R):5'- CCAGTTGCACGGTGCTGTG -3'

Posted On

2015-04-02