Mutagenetix > Incidental Mutation

Incidental Mutation 'R4749:Rhot2'

357439

Institutional Source

Beutler Lab

Gene Symbol

Rhot2

Ensembl Gene

ENSMUSG00000025733

Gene Name

ras homolog family member T2

Synonyms

Miro2, Arht2

MMRRC Submission

041969-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R4749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26057431-26063499 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26063248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 19 (G19V)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043897] [ENSMUST00000079461] [ENSMUST00000176709] [ENSMUST00000176923]

AlphaFold

Q8JZN7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043897
AA Change: G26V

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044639
Gene: ENSMUSG00000025733
AA Change: G26V

Domain	Start	End	E-Value	Type
Pfam:Roc	6	122	4.1e-11	PFAM
Pfam:Ras	6	168	2.3e-18	PFAM
EFh	188	216	1.27e1	SMART
Pfam:EF_assoc_2	219	305	2.2e-35	PFAM
EFh	308	336	1.23e-1	SMART
Pfam:EF_assoc_1	341	412	1.8e-25	PFAM
Blast:AAA	416	547	7e-18	BLAST
SCOP:d1mh1__	422	532	4e-8	SMART
transmembrane domain	595	617	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079461

SMART Domains

Protein: ENSMUSP00000078426
Gene: ENSMUSG00000073434

Domain	Start	End	E-Value	Type
low complexity region	32	53	N/A	INTRINSIC
Pfam:DUF667	60	183	5e-26	PFAM
Pfam:DUF667	210	271	3.7e-9	PFAM
low complexity region	381	396	N/A	INTRINSIC
WD40	478	519	5.94e0	SMART
WD40	522	565	3.2e0	SMART
WD40	572	612	3.3e1	SMART
WD40	687	725	1.15e1	SMART
WD40	728	766	5.75e-1	SMART
WD40	768	808	9.24e-4	SMART
WD40	811	850	4.13e0	SMART
WD40	853	892	4.62e-1	SMART
WD40	950	993	1.07e1	SMART
WD40	996	1035	5.75e-1	SMART
WD40	1040	1077	1.58e-2	SMART
WD40	1290	1334	5.23e-3	SMART
WD40	1337	1378	1.27e-1	SMART
WD40	1384	1419	1.83e2	SMART
WD40	1422	1469	3.08e0	SMART
WD40	1472	1509	9.9e0	SMART
WD40	1568	1607	9.02e-7	SMART
WD40	1610	1655	5.75e-1	SMART
WD40	1659	1697	2.98e-1	SMART
WD40	1700	1749	6.14e1	SMART
WD40	1850	1888	1.92e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176522

Predicted Effect

probably benign
Transcript: ENSMUST00000176709
AA Change: G26V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135436
Gene: ENSMUSG00000025733
AA Change: G26V

Domain	Start	End	E-Value	Type
Pfam:Arf	1	121	1.6e-6	PFAM
Pfam:MMR_HSR1	6	118	1.4e-6	PFAM
Pfam:Miro	6	120	7.8e-20	PFAM
Pfam:Ras	6	121	7.2e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000176591
AA Change: G19V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177122

Predicted Effect

probably benign
Transcript: ENSMUST00000176923

SMART Domains

Protein: ENSMUSP00000135420
Gene: ENSMUSG00000073434

Domain	Start	End	E-Value	Type
low complexity region	32	53	N/A	INTRINSIC
Pfam:DUF667	60	252	5.1e-14	PFAM
low complexity region	363	378	N/A	INTRINSIC
WD40	460	501	5.94e0	SMART
WD40	504	547	3.2e0	SMART
WD40	554	594	3.3e1	SMART
WD40	669	707	1.15e1	SMART
WD40	710	748	5.75e-1	SMART
WD40	750	790	9.24e-4	SMART
WD40	793	832	4.13e0	SMART
WD40	835	874	4.62e-1	SMART
WD40	932	975	1.07e1	SMART
WD40	978	1017	5.75e-1	SMART
WD40	1022	1059	1.58e-2	SMART
WD40	1272	1316	5.23e-3	SMART
WD40	1319	1360	1.27e-1	SMART
WD40	1366	1401	1.83e2	SMART
WD40	1404	1451	3.08e0	SMART
WD40	1454	1491	9.9e0	SMART
WD40	1550	1589	9.02e-7	SMART
WD40	1592	1637	5.75e-1	SMART
WD40	1641	1679	2.98e-1	SMART
WD40	1682	1731	6.14e1	SMART
WD40	1832	1870	1.92e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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 family of GTPases. The encoded protein is localized to the outer mitochondrial membrane and plays a role in mitochondrial trafficking and fusion-fission dynamics. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal mitochondria distribution in neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,204,153 (GRCm39)	D79E	probably benign	Het
Adgra2	A	G	8: 27,604,225 (GRCm39)	K472E	probably damaging	Het
Akap9	A	G	5: 4,018,737 (GRCm39)	D1106G	probably benign	Het
Arhgap35	T	C	7: 16,232,551 (GRCm39)	E1367G	possibly damaging	Het
Arsi	A	T	18: 61,050,533 (GRCm39)	Y472F	probably benign	Het
Asxl3	A	G	18: 22,649,826 (GRCm39)	D605G	probably damaging	Het
Atp6v1e2	C	T	17: 87,252,135 (GRCm39)	D88N	probably benign	Het
BC061237	T	A	14: 44,743,469 (GRCm39)	V169E	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm39)	E75G	probably benign	Het
C9	G	A	15: 6,519,311 (GRCm39)	V383I	probably benign	Het
Ccdc88a	A	G	11: 29,432,720 (GRCm39)	K222R	probably benign	Het
Ccna2	T	C	3: 36,620,391 (GRCm39)	S421G	probably benign	Het
Cflar	T	G	1: 58,779,431 (GRCm39)	V229G	possibly damaging	Het
Clcn1	A	G	6: 42,267,131 (GRCm39)		probably null	Het
Col14a1	T	A	15: 55,315,732 (GRCm39)	F1342L	unknown	Het
Colq	C	T	14: 31,251,472 (GRCm39)	R313H	possibly damaging	Het
Coro6	A	G	11: 77,359,974 (GRCm39)	E345G	probably damaging	Het
Cracd	T	C	5: 77,006,681 (GRCm39)	V1014A	unknown	Het
Cyb561	A	G	11: 105,826,708 (GRCm39)	F182L	probably benign	Het
Dap3	A	G	3: 88,833,617 (GRCm39)	S317P	probably benign	Het
Dnah9	G	A	11: 65,724,941 (GRCm39)	A4404V	probably damaging	Het
Dsg4	A	G	18: 20,579,888 (GRCm39)	E31G	possibly damaging	Het
Dsn1	G	A	2: 156,843,660 (GRCm39)	L147F	probably damaging	Het
Dysf	T	C	6: 84,043,990 (GRCm39)	V277A	probably damaging	Het
Eprs1	T	A	1: 185,128,327 (GRCm39)	I569K	probably damaging	Het
Erg	T	C	16: 95,162,029 (GRCm39)	N342S	probably damaging	Het
Fam114a1	G	A	5: 65,166,409 (GRCm39)	D247N	probably damaging	Het
Fat2	A	G	11: 55,202,294 (GRCm39)	V260A	probably benign	Het
Foxn4	T	C	5: 114,393,628 (GRCm39)	D497G	probably damaging	Het
Fsip2	A	G	2: 82,819,629 (GRCm39)	I5121V	probably benign	Het
Gcn1	T	A	5: 115,752,461 (GRCm39)	D2155E	probably benign	Het
Glra1	C	A	11: 55,427,210 (GRCm39)	D42Y	probably damaging	Het
Gpr171	A	G	3: 59,004,887 (GRCm39)	V296A	probably benign	Het
Grid1	T	A	14: 35,302,644 (GRCm39)	S970T	possibly damaging	Het
Hcn3	A	T	3: 89,057,370 (GRCm39)		probably null	Het
Helb	T	C	10: 119,920,754 (GRCm39)	D1063G	probably benign	Het
Hsd3b3	G	A	3: 98,649,931 (GRCm39)	P131S	probably damaging	Het
Hsp90b1	A	G	10: 86,537,672 (GRCm39)	V211A	probably damaging	Het
Htr2c	A	G	X: 145,976,793 (GRCm39)	T163A	probably benign	Het
Ifi208	T	A	1: 173,523,180 (GRCm39)	D483E	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,727 (GRCm39)	V474E	possibly damaging	Het
Kif21b	T	A	1: 136,072,487 (GRCm39)	Y64*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Map3k10	T	C	7: 27,357,786 (GRCm39)	D664G	possibly damaging	Het
Map3k5	C	A	10: 20,007,798 (GRCm39)	S1201Y	probably benign	Het
Mcm2	T	C	6: 88,868,973 (GRCm39)	E293G	possibly damaging	Het
Med21	T	A	6: 146,551,599 (GRCm39)		probably null	Het
Mettl18	T	C	1: 163,824,354 (GRCm39)	V225A	probably benign	Het
Mmp10	A	T	9: 7,508,169 (GRCm39)	I432F	probably damaging	Het
Muc5b	T	G	7: 141,415,185 (GRCm39)	Y2710*	probably null	Het
Neurl4	A	T	11: 69,801,894 (GRCm39)	I1282F	probably benign	Het
Nipbl	A	T	15: 8,395,313 (GRCm39)	H191Q	possibly damaging	Het
Nktr	A	G	9: 121,570,759 (GRCm39)	D167G	probably damaging	Het
Nrap	A	G	19: 56,368,669 (GRCm39)	I249T	probably damaging	Het
Nsfl1c	A	G	2: 151,351,526 (GRCm39)	T297A	probably benign	Het
Oit3	A	T	10: 59,259,904 (GRCm39)	C500S	probably damaging	Het
Or1e1	G	A	11: 73,245,322 (GRCm39)	V248M	probably damaging	Het
Or4a39	C	T	2: 89,236,599 (GRCm39)	V275I	probably benign	Het
Or4k6	A	G	14: 50,476,190 (GRCm39)	S51P	probably damaging	Het
Or5b24	C	T	19: 12,912,581 (GRCm39)	H160Y	probably benign	Het
Or5d36	T	A	2: 87,900,956 (GRCm39)	I257L	probably benign	Het
Pcnx2	T	C	8: 126,614,327 (GRCm39)	S375G	probably damaging	Het
Pgap6	T	C	17: 26,335,757 (GRCm39)	F48S	probably damaging	Het
Phf2	A	T	13: 48,975,185 (GRCm39)		probably null	Het
Piezo1	A	T	8: 123,213,678 (GRCm39)	M1739K	possibly damaging	Het
Piezo1	G	T	8: 123,224,945 (GRCm39)	Q654K	probably damaging	Het
Pml	C	T	9: 58,141,935 (GRCm39)	R299H	probably damaging	Het
Ppp3cb	A	T	14: 20,574,130 (GRCm39)	M236K	probably damaging	Het
Prkch	T	A	12: 73,739,734 (GRCm39)	C203S	probably damaging	Het
Prob1	C	T	18: 35,785,869 (GRCm39)	R795H	possibly damaging	Het
Prr22	G	C	17: 57,078,274 (GRCm39)	E142D	possibly damaging	Het
Prss56	C	A	1: 87,113,305 (GRCm39)	A211E	possibly damaging	Het
Qser1	A	C	2: 104,617,649 (GRCm39)	S1054R	probably benign	Het
Rhbdl2	T	C	4: 123,720,694 (GRCm39)		probably null	Het
Rp1l1	C	T	14: 64,267,249 (GRCm39)	T945M	probably damaging	Het
Ryr3	T	C	2: 112,794,750 (GRCm39)	T121A	possibly damaging	Het
Sdad1	C	T	5: 92,452,836 (GRCm39)	R134Q	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sharpin	T	A	15: 76,231,767 (GRCm39)	D314V	probably damaging	Het
Slc14a2	A	T	18: 78,198,796 (GRCm39)	L778Q	probably damaging	Het
Slc29a3	A	G	10: 60,552,105 (GRCm39)	V313A	probably benign	Het
Slc4a11	C	A	2: 130,532,787 (GRCm39)	R222L	probably damaging	Het
Slc7a10	C	T	7: 34,900,187 (GRCm39)	P502S	probably damaging	Het
Sort1	T	G	3: 108,263,639 (GRCm39)	Y812*	probably null	Het
Spata31d1b	G	A	13: 59,866,172 (GRCm39)	V1107M	probably damaging	Het
Tcp10b	G	A	17: 13,289,832 (GRCm39)		probably null	Het
Tnc	T	C	4: 63,913,876 (GRCm39)	D1312G	possibly damaging	Het
Tomm40l	G	A	1: 171,047,131 (GRCm39)	R296*	probably null	Het
Topors	A	T	4: 40,261,015 (GRCm39)	S756R	unknown	Het
Trim9	T	C	12: 70,295,047 (GRCm39)	N688D	probably damaging	Het
Ube2o	T	C	11: 116,432,734 (GRCm39)	D744G	probably benign	Het
Vmn1r224	A	G	17: 20,640,013 (GRCm39)	I197V	probably benign	Het
Zc3h18	A	T	8: 123,110,382 (GRCm39)	D77V	probably damaging	Het

Other mutations in Rhot2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Rhot2	APN	17	26,060,334 (GRCm39)	critical splice donor site	probably null
IGL02707:Rhot2	APN	17	26,063,270 (GRCm39)	missense	probably damaging	1.00
IGL03087:Rhot2	APN	17	26,060,115 (GRCm39)	unclassified	probably benign
Endless	UTSW	17	26,059,886 (GRCm39)	missense	probably damaging	1.00
eternal	UTSW	17	26,061,402 (GRCm39)	splice site	probably null
ewige	UTSW	17	26,058,394 (GRCm39)	missense	possibly damaging	0.69
R0634:Rhot2	UTSW	17	26,061,002 (GRCm39)	missense	possibly damaging	0.71
R1233:Rhot2	UTSW	17	26,063,071 (GRCm39)	missense	probably damaging	1.00
R1436:Rhot2	UTSW	17	26,060,374 (GRCm39)	missense	probably benign	0.16
R2902:Rhot2	UTSW	17	26,062,950 (GRCm39)	missense	probably damaging	0.99
R3617:Rhot2	UTSW	17	26,059,955 (GRCm39)	unclassified	probably benign
R3767:Rhot2	UTSW	17	26,059,521 (GRCm39)	missense	probably benign	0.11
R3768:Rhot2	UTSW	17	26,059,521 (GRCm39)	missense	probably benign	0.11
R3769:Rhot2	UTSW	17	26,059,521 (GRCm39)	missense	probably benign	0.11
R3770:Rhot2	UTSW	17	26,059,521 (GRCm39)	missense	probably benign	0.11
R4362:Rhot2	UTSW	17	26,061,065 (GRCm39)	missense	probably damaging	1.00
R4487:Rhot2	UTSW	17	26,058,467 (GRCm39)	missense	probably benign	0.01
R4670:Rhot2	UTSW	17	26,060,305 (GRCm39)	unclassified	probably benign
R5772:Rhot2	UTSW	17	26,058,781 (GRCm39)	missense	probably benign	0.00
R5840:Rhot2	UTSW	17	26,059,032 (GRCm39)	missense	probably benign
R5993:Rhot2	UTSW	17	26,060,085 (GRCm39)	missense	probably benign	0.45
R6479:Rhot2	UTSW	17	26,060,054 (GRCm39)	missense	probably benign	0.22
R6523:Rhot2	UTSW	17	26,058,394 (GRCm39)	missense	possibly damaging	0.69
R6597:Rhot2	UTSW	17	26,059,886 (GRCm39)	missense	probably damaging	1.00
R7269:Rhot2	UTSW	17	26,061,402 (GRCm39)	splice site	probably null
R7427:Rhot2	UTSW	17	26,060,583 (GRCm39)	missense	probably damaging	1.00
R7479:Rhot2	UTSW	17	26,059,723 (GRCm39)	missense	probably damaging	1.00
R7672:Rhot2	UTSW	17	26,062,079 (GRCm39)	critical splice donor site	probably null
R8176:Rhot2	UTSW	17	26,063,068 (GRCm39)	missense	probably damaging	1.00
R8258:Rhot2	UTSW	17	26,058,864 (GRCm39)	missense	probably benign	0.00
R8259:Rhot2	UTSW	17	26,058,864 (GRCm39)	missense	probably benign	0.00
R9264:Rhot2	UTSW	17	26,060,740 (GRCm39)	missense	probably damaging	0.96
R9409:Rhot2	UTSW	17	26,060,085 (GRCm39)	missense	probably benign	0.06
X0067:Rhot2	UTSW	17	26,060,440 (GRCm39)	missense	possibly damaging	0.84
Y5409:Rhot2	UTSW	17	26,063,269 (GRCm39)	missense	probably damaging	1.00
Z1177:Rhot2	UTSW	17	26,059,657 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGATACCTGAGTAATCCACGATATG -3'
(R):5'- TTGCCTTAGCCCAACCACTAG -3'

Sequencing Primer
(F):5'- CAACAGGTGGGTCAGTAT -3'
(R):5'- GCCTGAGCGGGTTGAAG -3'

Posted On

2015-11-11