Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01964:Rnd2'

181498

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 #

IGL01964

Quality Score

Status

Chromosome

Chromosomal Location

101359001-101362679 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 101361632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048350 (fasta)

Gene Model

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

AlphaFold

Q9QYM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000001347
AA Change: L130P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001347
Gene: ENSMUSG00000001313
AA Change: L130P

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

Predicted Effect

probably null
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
Adam34l	A	C	8: 44,079,798 (GRCm39)	I142S	probably benign	Het
Aknad1	T	C	3: 108,685,593 (GRCm39)	V579A	probably benign	Het
Ankrd11	A	G	8: 123,616,475 (GRCm39)	I2438T	probably damaging	Het
Cdh11	A	G	8: 103,391,375 (GRCm39)	V287A	probably benign	Het
Cdyl2	G	A	8: 117,350,768 (GRCm39)	S121L	probably benign	Het
Cyp2e1	A	T	7: 140,343,779 (GRCm39)	I6F	probably damaging	Het
Cyp3a16	A	T	5: 145,392,372 (GRCm39)	D194E	probably benign	Het
Eapp	G	T	12: 54,732,720 (GRCm39)	P126Q	probably damaging	Het
Efr3b	A	T	12: 4,032,928 (GRCm39)	L143Q	probably damaging	Het
Grin2c	C	T	11: 115,144,673 (GRCm39)	E618K	probably damaging	Het
Haus3	A	T	5: 34,323,405 (GRCm39)	Y402N	probably benign	Het
Iffo1	A	G	6: 125,128,364 (GRCm39)	D316G	probably damaging	Het
Kctd19	A	T	8: 106,115,157 (GRCm39)	M468K	probably damaging	Het
Kdm4b	T	A	17: 56,696,256 (GRCm39)		probably null	Het
Naip6	T	A	13: 100,435,238 (GRCm39)		probably benign	Het
Or5k15	A	T	16: 58,709,827 (GRCm39)	I252K	probably damaging	Het
Polr3c	T	C	3: 96,619,291 (GRCm39)		probably benign	Het
Poteg	A	T	8: 27,938,036 (GRCm39)	E60V	probably damaging	Het
Rufy3	A	G	5: 88,762,929 (GRCm39)	Q153R	probably damaging	Het
Shank1	T	A	7: 43,975,102 (GRCm39)	I399N	unknown	Het
Sin3a	T	C	9: 57,014,631 (GRCm39)		probably benign	Het
Sppl2b	T	A	10: 80,701,220 (GRCm39)		probably null	Het
Srgap1	G	A	10: 121,640,871 (GRCm39)	P665L	possibly damaging	Het
Srgap2	G	T	1: 131,217,316 (GRCm39)	Q999K	probably benign	Het
Tbxas1	G	A	6: 39,060,748 (GRCm39)	V496I	probably benign	Het
Vmn1r198	A	G	13: 22,538,576 (GRCm39)	M21V	probably benign	Het
Wdr90	T	C	17: 26,067,383 (GRCm39)	I1479V	probably benign	Het

Other mutations in Rnd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Rnd2	APN	11	101,362,017 (GRCm39)	missense	possibly damaging	0.81
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

2014-05-07