Mutagenetix > Incidental Mutation

Incidental Mutation 'R8259:Rhot2'

640480

Institutional Source

Beutler Lab

Gene Symbol

Rhot2

Ensembl Gene

ENSMUSG00000025733

Gene Name

ras homolog family member T2

Synonyms

Miro2, Arht2

MMRRC Submission

067650-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R8259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26057431-26063499 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26058864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 512 (R512L)

Ref Sequence

ENSEMBL: ENSMUSP00000044639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026831] [ENSMUST00000043897] [ENSMUST00000079461] [ENSMUST00000176709] [ENSMUST00000183929] [ENSMUST00000184865]

AlphaFold

Q8JZN7

Predicted Effect

probably benign
Transcript: ENSMUST00000026831

SMART Domains

Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735

Domain	Start	End	E-Value	Type
SCOP:d2mysb_	13	74	5e-7	SMART
Blast:EFh	43	71	9e-11	BLAST
transmembrane domain	129	151	N/A	INTRINSIC
Pfam:Rhomboid	174	331	6.7e-36	PFAM
transmembrane domain	339	361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043897
AA Change: R512L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000044639
Gene: ENSMUSG00000025733
AA Change: R512L

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

probably benign
Transcript: ENSMUST00000176591

Predicted Effect

probably benign
Transcript: ENSMUST00000176709

SMART Domains

Protein: ENSMUSP00000135436
Gene: ENSMUSG00000025733

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 benign
Transcript: ENSMUST00000183929

SMART Domains

Protein: ENSMUSP00000139046
Gene: ENSMUSG00000025735

Domain	Start	End	E-Value	Type
SCOP:d2mysb_	13	74	9e-6	SMART
Blast:EFh	43	70	2e-9	BLAST
transmembrane domain	136	155	N/A	INTRINSIC
Pfam:Rhomboid	178	327	1e-27	PFAM
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184865

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,939,422 (GRCm39)	H272L	probably benign	Het
Abcg5	T	G	17: 84,983,523 (GRCm39)	T144P	possibly damaging	Het
Adam34	G	A	8: 44,104,646 (GRCm39)	S333L	probably benign	Het
Adcy6	A	G	15: 98,498,919 (GRCm39)	F294S	probably damaging	Het
Adhfe1	A	G	1: 9,628,417 (GRCm39)	N263S	probably null	Het
Aebp2	A	T	6: 140,583,453 (GRCm39)	Q309L	possibly damaging	Het
Akap7	A	G	10: 25,047,054 (GRCm39)	Y281H	probably damaging	Het
Aplf	T	C	6: 87,606,987 (GRCm39)	R476G	probably benign	Het
Atg2a	G	A	19: 6,299,859 (GRCm39)	A588T	probably damaging	Het
Birc6	A	G	17: 74,905,073 (GRCm39)	T1289A	probably benign	Het
Cacna1d	A	G	14: 29,773,475 (GRCm39)	S1759P	probably benign	Het
Calcoco1	T	C	15: 102,624,228 (GRCm39)	D236G	probably damaging	Het
Camsap2	A	T	1: 136,208,077 (GRCm39)	D470E	probably benign	Het
Capn8	G	T	1: 182,392,698 (GRCm39)	V25L	probably benign	Het
Card10	A	G	15: 78,660,884 (GRCm39)	V1041A	probably damaging	Het
Ccr1	T	A	9: 123,764,119 (GRCm39)	H137L	probably damaging	Het
Cdh23	A	T	10: 60,151,435 (GRCm39)	D2483E	probably damaging	Het
Chd2	G	T	7: 73,085,532 (GRCm39)	Q1701K	probably benign	Het
Ckmt2	T	A	13: 92,007,335 (GRCm39)	R286S	probably damaging	Het
Clhc1	G	A	11: 29,503,746 (GRCm39)	R54Q	probably benign	Het
Cntnap3	T	A	13: 64,935,681 (GRCm39)	D394V	probably damaging	Het
Comp	A	G	8: 70,831,704 (GRCm39)	D441G	probably damaging	Het
Cyp20a1	G	A	1: 60,391,330 (GRCm39)		probably null	Het
Cyp27a1	A	T	1: 74,771,214 (GRCm39)	D133V	probably benign	Het
Cyp2a12	C	T	7: 26,732,083 (GRCm39)	Q275*	probably null	Het
Dnhd1	A	T	7: 105,343,995 (GRCm39)	I1780L	probably benign	Het
Dpy19l2	A	G	9: 24,580,702 (GRCm39)	V213A	probably benign	Het
Eml1	A	T	12: 108,476,458 (GRCm39)	I283F	probably damaging	Het
Ep300	A	G	15: 81,523,218 (GRCm39)	T1281A	unknown	Het
Ercc6l2	G	A	13: 64,020,285 (GRCm39)	E803K		Het
Fat3	A	G	9: 15,901,887 (GRCm39)	V3046A	possibly damaging	Het
Fbxw20	A	G	9: 109,063,763 (GRCm39)	V3A	probably benign	Het
Fcgr2b	A	G	1: 170,795,702 (GRCm39)	S76P	possibly damaging	Het
Fgg	C	T	3: 82,917,477 (GRCm39)	Q169*	probably null	Het
Flnb	A	G	14: 7,889,183 (GRCm38)	Y511C	probably damaging	Het
Ggt5	G	A	10: 75,450,666 (GRCm39)	V558I	probably benign	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Greb1	A	T	12: 16,774,925 (GRCm39)	C157*	probably null	Het
Grid2ip	A	G	5: 143,348,344 (GRCm39)	E145G	probably benign	Het
Hdac11	T	A	6: 91,149,210 (GRCm39)	V238E	probably damaging	Het
Herc2	A	G	7: 55,855,638 (GRCm39)	D3858G	probably damaging	Het
Hoxc4	A	G	15: 102,943,165 (GRCm39)	Y6C	probably damaging	Het
Incenp	A	G	19: 9,870,993 (GRCm39)	L212P	unknown	Het
Incenp	G	C	19: 9,871,005 (GRCm39)	T208R	unknown	Het
Mctp1	T	A	13: 76,949,666 (GRCm39)		probably null	Het
Megf8	T	C	7: 25,057,848 (GRCm39)	M2095T	probably benign	Het
Mroh2b	G	A	15: 4,941,391 (GRCm39)	V308I	probably benign	Het
Muc1	T	A	3: 89,139,341 (GRCm39)	H580Q	probably damaging	Het
Naip6	A	T	13: 100,452,920 (GRCm39)	M47K	probably benign	Het
Nectin3	C	T	16: 46,256,754 (GRCm39)	R419Q	probably benign	Het
Nlrp4g	T	G	9: 124,353,392 (GRCm38)	Y579D	noncoding transcript	Het
Nrxn1	C	A	17: 90,471,249 (GRCm39)	R1260L	probably damaging	Het
Nynrin	A	G	14: 56,100,815 (GRCm39)	I202V	possibly damaging	Het
Or14j7	T	C	17: 38,234,847 (GRCm39)	L130P	probably damaging	Het
Or51e2	A	G	7: 102,392,034 (GRCm39)	Y59H	probably damaging	Het
Or5ac17	T	C	16: 59,036,458 (GRCm39)	I173V	probably benign	Het
Or5b98	T	C	19: 12,931,727 (GRCm39)	M258T	possibly damaging	Het
Pard3	G	A	8: 128,098,021 (GRCm39)	W354*	probably null	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Prune2	A	G	19: 17,189,672 (GRCm39)	R3052G	unknown	Het
Prx	T	C	7: 27,218,808 (GRCm39)	L1242P	probably damaging	Het
Pxylp1	A	G	9: 96,707,633 (GRCm39)	I183T	probably benign	Het
Ranbp2	A	G	10: 58,291,755 (GRCm39)	E254G	probably benign	Het
Ren1	C	T	1: 133,278,534 (GRCm39)	R31*	probably null	Het
Rpa1	T	C	11: 75,193,550 (GRCm39)	N594D	probably benign	Het
Rpp14	T	G	14: 8,090,526 (GRCm38)	V150G	probably null	Het
Rxfp2	T	A	5: 149,983,365 (GRCm39)	I300K	probably damaging	Het
Sbno1	A	T	5: 124,519,759 (GRCm39)	V1173E	probably damaging	Het
Scarf1	T	A	11: 75,414,689 (GRCm39)	S486T	probably damaging	Het
Slc24a4	T	C	12: 102,220,928 (GRCm39)	V455A	probably damaging	Het
Slitrk1	A	G	14: 109,148,653 (GRCm39)	V686A	probably benign	Het
Spata31e2	T	C	1: 26,721,562 (GRCm39)	E1206G	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Syne2	C	A	12: 75,996,143 (GRCm39)	Q2228K	possibly damaging	Het
Tcf20	A	C	15: 82,736,474 (GRCm39)	F1659C	probably damaging	Het
Tenm4	G	A	7: 96,517,198 (GRCm39)	G1430S	probably damaging	Het
Tlr12	C	A	4: 128,511,492 (GRCm39)	A253S	probably benign	Het
Tmem87a	A	G	2: 120,227,928 (GRCm39)	F73S	possibly damaging	Het
Trpm1	G	A	7: 63,918,777 (GRCm39)	A1590T	probably benign	Het
Usp13	C	T	3: 32,971,748 (GRCm39)	Q743*	probably null	Het
Vmn1r184	T	A	7: 25,966,686 (GRCm39)	M144K	probably benign	Het
Wee2	A	G	6: 40,421,114 (GRCm39)	D68G	probably benign	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
R4749:Rhot2	UTSW	17	26,063,248 (GRCm39)	missense	probably damaging	1.00
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
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'- GTAAAGACATCTGTGCTGGGC -3'
(R):5'- TGTCCCAGCTGTGTGAAGTG -3'

Sequencing Primer
(F):5'- ACATCTGTGCTGGGCATTGC -3'
(R):5'- CCCAGCTGTGTGAAGTGAATGC -3'

Posted On

2020-07-28