Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00596:Rnd2'

13834

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnd2

Ensembl Gene

ENSMUSG00000001313

Gene Name

Rho family GTPase 2

Synonyms

Rohn, Arhn

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00596

Quality Score

Status

Chromosome

Chromosomal Location

101359001-101362679 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101362017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 190 (R190H)

Ref Sequence

ENSEMBL: ENSMUSP00000001347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001347] [ENSMUST00000040430]

AlphaFold

Q9QYM5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001347
AA Change: R190H

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001347
Gene: ENSMUSG00000001313
AA Change: R190H

Domain	Start	End	E-Value	Type
RHO	10	184	5.22e-100	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040430

SMART Domains

Protein: ENSMUSP00000048350
Gene: ENSMUSG00000034993

Domain	Start	End	E-Value	Type
low complexity region	3	31	N/A	INTRINSIC
low complexity region	41	60	N/A	INTRINSIC
Pfam:ADH_N	89	157	8.8e-11	PFAM
Pfam:ADH_zinc_N	213	355	2.1e-21	PFAM
Pfam:ADH_zinc_N_2	245	398	6.9e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153185

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 Rho GTPase family, whose members play a key role in the regulation of actin cytoskeleton organization in response to extracellular growth factors. This particular family member has been implicated in the regulation of neuronal morphology and endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the breast-ovarian cancer susceptibility gene BRCA1. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,547,030 (GRCm39)	N366K	probably damaging	Het
Adgrl3	G	A	5: 81,794,314 (GRCm39)	R445Q	probably benign	Het
Cc2d1b	T	C	4: 108,484,503 (GRCm39)	I446T	probably damaging	Het
Cdhr2	A	T	13: 54,868,810 (GRCm39)	N591Y	probably damaging	Het
Cntnap5b	A	G	1: 100,306,886 (GRCm39)	R868G	possibly damaging	Het
Dkk2	A	T	3: 131,879,564 (GRCm39)	D81V	probably damaging	Het
Dsg1c	T	A	18: 20,414,899 (GRCm39)		probably benign	Het
Dym	T	A	18: 75,252,320 (GRCm39)	V362D	probably benign	Het
Epm2a	A	T	10: 11,324,384 (GRCm39)		probably null	Het
Grid2	G	T	6: 64,510,688 (GRCm39)	A773S	possibly damaging	Het
Iars2	A	G	1: 185,048,151 (GRCm39)	V527A	probably benign	Het
Kcnj16	T	C	11: 110,915,349 (GRCm39)	Y4H	probably damaging	Het
Krt6a	T	A	15: 101,602,665 (GRCm39)	I7F	possibly damaging	Het
Myo6	T	G	9: 80,189,025 (GRCm39)	F757V	possibly damaging	Het
Nbeal1	T	C	1: 60,220,900 (GRCm39)	L13P	probably damaging	Het
Nr2c2	A	T	6: 92,126,700 (GRCm39)	K63M	probably damaging	Het
Pcdh15	G	A	10: 74,466,576 (GRCm39)	G1511D	probably benign	Het
Pomgnt2	A	T	9: 121,812,191 (GRCm39)	W197R	probably benign	Het
Rint1	G	A	5: 24,016,863 (GRCm39)	V543M	probably damaging	Het
Sh3rf3	A	G	10: 58,885,178 (GRCm39)	S354G	probably benign	Het
Slc10a2	T	C	8: 5,141,680 (GRCm39)	I235V	probably benign	Het
Steap4	G	A	5: 8,026,979 (GRCm39)	R314H	probably damaging	Het
Ticrr	A	C	7: 79,327,041 (GRCm39)	N583T	probably damaging	Het
Tmem25	T	A	9: 44,706,816 (GRCm39)		probably benign	Het
Vps8	C	T	16: 21,267,162 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,345,226 (GRCm39)	K2489R	probably benign	Het
Xlr4b	T	A	X: 72,263,577 (GRCm39)		probably benign	Het

Other mutations in Rnd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01964:Rnd2	APN	11	101,361,632 (GRCm39)	splice site	probably null
Atkins	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R1581:Rnd2	UTSW	11	101,362,022 (GRCm39)	missense	probably benign
R4606:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R4797:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R4824:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R4825:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R4931:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5005:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5078:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5079:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5402:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5405:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5497:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5498:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5501:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5534:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5619:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5666:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5669:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5670:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5671:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5786:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5788:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5844:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5845:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5857:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5989:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5991:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R5992:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6018:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6019:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6020:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6122:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6144:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6148:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6208:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6209:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6226:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6230:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6332:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6333:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6335:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6491:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6541:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6605:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6606:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6607:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6677:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6678:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6726:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6796:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R6797:Rnd2	UTSW	11	101,359,825 (GRCm39)	missense	probably damaging	1.00
R8415:Rnd2	UTSW	11	101,362,011 (GRCm39)	missense	probably benign

Posted On

2012-12-06