Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02931:Rac2'

364087

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rac2

Ensembl Gene

ENSMUSG00000033220

Gene Name

Rac family small GTPase 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02931

Quality Score

Status

Chromosome

Chromosomal Location

78443369-78456983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78454947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 31 (E31G)

Ref Sequence

ENSEMBL: ENSMUSP00000154826 (fasta)

Gene Model

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

AlphaFold

Q05144

Predicted Effect

probably benign
Transcript: ENSMUST00000043214
AA Change: E31G

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036384
Gene: ENSMUSG00000033220
AA Change: E31G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229394
AA Change: E31G

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229702

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,029,012 (GRCm39)	R254Q	probably benign	Het
Adgrv1	T	C	13: 81,727,833 (GRCm39)	Y269C	probably damaging	Het
Apol7a	C	A	15: 77,277,650 (GRCm39)	E33*	probably null	Het
Arhgap29	T	C	3: 121,786,509 (GRCm39)	V358A	probably benign	Het
B3galt1	T	C	2: 67,948,728 (GRCm39)	S148P	probably damaging	Het
BC061237	A	G	14: 44,740,779 (GRCm39)	N60D	possibly damaging	Het
Bcl9l	C	T	9: 44,412,047 (GRCm39)	P11L	probably damaging	Het
Ccdc89	A	C	7: 90,076,110 (GRCm39)	K107Q	probably benign	Het
Col27a1	T	C	4: 63,249,663 (GRCm39)		probably benign	Het
Col5a2	T	C	1: 45,424,225 (GRCm39)	D1067G	probably damaging	Het
Col9a2	A	T	4: 120,910,389 (GRCm39)	R511S	probably benign	Het
Disp3	G	A	4: 148,333,658 (GRCm39)	S1060F	possibly damaging	Het
Dusp8	T	C	7: 141,636,667 (GRCm39)	T308A	probably benign	Het
Ern1	T	C	11: 106,314,266 (GRCm39)	N178S	probably damaging	Het
Gas6	C	A	8: 13,527,136 (GRCm39)	C204F	probably damaging	Het
Gga1	T	C	15: 78,777,522 (GRCm39)	S558P	possibly damaging	Het
Gli1	T	C	10: 127,168,279 (GRCm39)	T525A	probably benign	Het
Gse1	A	G	8: 121,304,808 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,532,958 (GRCm39)	S3075L	probably benign	Het
Hnf4a	G	A	2: 163,408,037 (GRCm39)		probably benign	Het
Htt	A	T	5: 35,034,097 (GRCm39)	E1894D	probably damaging	Het
Kcnh8	G	A	17: 53,263,650 (GRCm39)	E716K	probably benign	Het
Kntc1	A	G	5: 123,937,874 (GRCm39)	Y1524C	probably damaging	Het
Krtap9-5	A	G	11: 99,839,931 (GRCm39)	T211A	unknown	Het
Lin54	T	C	5: 100,628,180 (GRCm39)	I8V	possibly damaging	Het
Lipe	A	G	7: 25,082,760 (GRCm39)		probably benign	Het
Lpin2	T	A	17: 71,545,678 (GRCm39)	V508E	probably damaging	Het
Lrrc9	C	A	12: 72,500,923 (GRCm39)	H216Q	probably damaging	Het
Lrrn1	T	C	6: 107,544,709 (GRCm39)	L169P	probably damaging	Het
Map9	C	A	3: 82,284,428 (GRCm39)	T334K	possibly damaging	Het
Msantd5f1	G	A	4: 73,605,602 (GRCm39)	A338T	probably damaging	Het
Mst1	A	T	9: 107,961,841 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,549,421 (GRCm39)	F602I	probably benign	Het
Mylpf	T	A	7: 126,812,798 (GRCm39)	D98E	probably benign	Het
Naca	C	A	10: 127,883,551 (GRCm39)	Q2059K	probably damaging	Het
Nefh	G	A	11: 4,891,356 (GRCm39)	T421I	possibly damaging	Het
Nlrp4g	T	A	9: 124,348,940 (GRCm38)		noncoding transcript	Het
Npat	C	T	9: 53,482,341 (GRCm39)	Q1350*	probably null	Het
Oaz3	T	C	3: 94,342,287 (GRCm39)	N123S	probably benign	Het
Patj	A	G	4: 98,299,410 (GRCm39)		probably benign	Het
Pgap6	T	A	17: 26,336,923 (GRCm39)	F280L	probably benign	Het
Piezo1	A	C	8: 123,210,258 (GRCm39)	D2224E	probably damaging	Het
Pnpla7	A	T	2: 24,905,241 (GRCm39)	I610F	possibly damaging	Het
Psapl1	A	T	5: 36,362,233 (GRCm39)	D275V	probably damaging	Het
Ptpdc1	T	A	13: 48,744,095 (GRCm39)		probably benign	Het
Sdhc	T	C	1: 170,971,124 (GRCm39)		probably benign	Het
Smim23	G	T	11: 32,770,667 (GRCm39)	P80T	probably damaging	Het
Snupn	C	T	9: 56,864,364 (GRCm39)	T21I	probably benign	Het
Tjp2	A	G	19: 24,073,996 (GRCm39)	V1097A	probably benign	Het
Ttc16	A	G	2: 32,661,939 (GRCm39)	Y164H	probably damaging	Het
Txlnb	A	G	10: 17,703,730 (GRCm39)	E296G	probably damaging	Het
Ube2l6	G	A	2: 84,633,195 (GRCm39)	V34M	probably damaging	Het
Vwf	A	C	6: 125,592,931 (GRCm39)	S764R	possibly damaging	Het
Zfand3	A	G	17: 30,411,611 (GRCm39)	S146G	probably benign	Het
Zfp280d	T	G	9: 72,203,307 (GRCm39)	F18L	probably benign	Het

Other mutations in Rac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-12-18