Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:Rnd2'

480902

Institutional Source

Beutler Lab

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 #

R5992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101359001-101362679 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101359825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 57 (L57F)

Ref Sequence

ENSEMBL: ENSMUSP00000001347 (fasta)

Gene Model

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

AlphaFold

Q9QYM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000001347
AA Change: L57F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001347
Gene: ENSMUSG00000001313
AA Change: L57F

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

Meta Mutation Damage Score

0.1630

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,819,549 (GRCm39)	L188*	probably null	Het
Acod1	C	T	14: 103,292,471 (GRCm39)	R332C	probably damaging	Het
Adamts3	T	A	5: 89,839,194 (GRCm39)	K852M	probably damaging	Het
Adm	A	T	7: 110,226,903 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,263,837 (GRCm39)	S286G	probably damaging	Het
Ank2	A	G	3: 126,753,300 (GRCm39)		probably null	Het
Aqr	A	T	2: 113,973,530 (GRCm39)	Y427*	probably null	Het
Arid1b	C	A	17: 5,045,231 (GRCm39)		probably benign	Het
Arpp21	T	A	9: 111,972,553 (GRCm39)	R259*	probably null	Het
Cep290	C	T	10: 100,379,183 (GRCm39)	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Clcn2	T	C	16: 20,532,404 (GRCm39)	E68G	possibly damaging	Het
Corin	T	A	5: 72,473,732 (GRCm39)	H699L	probably benign	Het
Cyld	T	C	8: 89,459,681 (GRCm39)	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,259,883 (GRCm39)	E613V	probably damaging	Het
Dlk1	T	C	12: 109,421,507 (GRCm39)	C74R	probably damaging	Het
Dnah12	A	C	14: 26,418,496 (GRCm39)	K128T	probably benign	Het
Dspp	T	A	5: 104,326,317 (GRCm39)	S893R	unknown	Het
Dtl	A	T	1: 191,300,684 (GRCm39)		probably null	Het
F2rl1	T	A	13: 95,650,778 (GRCm39)	S35C	probably benign	Het
Fcgbp	A	T	7: 27,819,959 (GRCm39)	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,852,044 (GRCm39)	D42V	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm21190	T	A	5: 15,729,849 (GRCm39)	E256D	probably damaging	Het
Gm5157	A	G	7: 20,919,346 (GRCm39)	S66P	probably damaging	Het
Hal	T	G	10: 93,326,778 (GRCm39)	L138R	probably damaging	Het
Hsd17b3	T	C	13: 64,207,284 (GRCm39)		probably null	Het
Lrrc37	A	T	11: 103,504,618 (GRCm39)	M2450K	possibly damaging	Het
Lrsam1	T	C	2: 32,845,234 (GRCm39)	T94A	probably benign	Het
Macc1	T	C	12: 119,411,320 (GRCm39)	V696A	probably damaging	Het
Magi2	G	A	5: 19,432,289 (GRCm39)	M1I	probably null	Het
Marchf7	C	A	2: 60,075,564 (GRCm39)	N674K	probably benign	Het
Mfap1b	A	G	2: 121,300,776 (GRCm39)	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069 (GRCm39)	S40L	probably benign	Het
Ndufs2	A	T	1: 171,063,987 (GRCm39)	V386E	probably damaging	Het
Nfic	C	T	10: 81,256,581 (GRCm39)	A19T	probably damaging	Het
Nfs1	G	A	2: 155,976,373 (GRCm39)	R174W	probably damaging	Het
Nin	G	T	12: 70,092,298 (GRCm39)	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,930,935 (GRCm39)	I754V	probably benign	Het
Nwd1	T	C	8: 73,380,201 (GRCm39)		probably null	Het
Or4a39	T	A	2: 89,237,223 (GRCm39)	M67L	probably benign	Het
Or4c1	T	A	2: 89,133,703 (GRCm39)	T78S	possibly damaging	Het
Or51a6	G	T	7: 102,604,216 (GRCm39)	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,896,502 (GRCm39)	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,246,723 (GRCm39)	R638*	probably null	Het
Pkmyt1	G	C	17: 23,954,300 (GRCm39)	W360S	probably benign	Het
Plxnd1	C	A	6: 115,944,748 (GRCm39)		probably null	Het
Poldip3	A	T	15: 83,013,430 (GRCm39)	N322K	probably damaging	Het
Prmt3	A	T	7: 49,478,695 (GRCm39)	I419L	probably benign	Het
Prss36	A	T	7: 127,544,002 (GRCm39)	V123E	probably damaging	Het
Prss58	A	G	6: 40,874,703 (GRCm39)	I46T	probably damaging	Het
Rac1	T	C	5: 143,492,753 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,304,220 (GRCm39)	Y36C	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rp1	A	T	1: 4,218,926 (GRCm39)	F951L	unknown	Het
Rps6ka5	G	T	12: 100,541,509 (GRCm39)	P417T	possibly damaging	Het
Ryr1	A	G	7: 28,767,062 (GRCm39)	W2967R	probably damaging	Het
Sacs	T	A	14: 61,442,992 (GRCm39)	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,165,800 (GRCm39)	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,373,726 (GRCm39)	Y114C	probably damaging	Het
Son	T	C	16: 91,455,792 (GRCm39)	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534 (GRCm39)	V447M	probably benign	Het
St3gal2	T	A	8: 111,696,185 (GRCm39)	Y257N	probably damaging	Het
Tars1	A	T	15: 11,397,282 (GRCm39)	D40E	probably damaging	Het
Tlr3	T	C	8: 45,850,851 (GRCm39)	H158R	probably benign	Het
Tppp2	G	T	14: 52,156,392 (GRCm39)	V50L	probably benign	Het
Trrap	T	C	5: 144,746,994 (GRCm39)	S1503P	probably benign	Het
Ttll4	T	G	1: 74,724,550 (GRCm39)	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,249,747 (GRCm39)	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,167,068 (GRCm39)	C688S	probably damaging	Het
Vps16	T	C	2: 130,266,369 (GRCm39)		probably null	Het
Zfp608	G	A	18: 55,032,320 (GRCm39)	T540I	probably benign	Het
Zfp775	G	A	6: 48,596,750 (GRCm39)	R208Q	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGTCTAGGGACTGAGCTG -3'
(R):5'- GGCCGATATTAGACTTCCTACG -3'

Sequencing Primer
(F):5'- TCTAGGGACTGAGCTGGACCG -3'
(R):5'- GGTTTCTGTCAGGCCTAAGAAACTC -3'

Posted On

2017-06-26