Mutagenetix > Incidental Mutation

Incidental Mutation 'R7672:Rhot2'

592265

Institutional Source

Beutler Lab

Gene Symbol

Rhot2

Ensembl Gene

ENSMUSG00000025733

Gene Name

ras homolog family member T2

Synonyms

Miro2, Arht2

Accession Numbers

Essential gene?

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

Stock #

R7672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26057431-26063499 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 26062079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044639 (fasta)

Gene Model

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

AlphaFold

Q8JZN7

Predicted Effect

probably null
Transcript: ENSMUST00000043897

SMART Domains

Protein: ENSMUSP00000044639
Gene: ENSMUSG00000025733

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 null
Transcript: ENSMUST00000176591

Predicted Effect

probably null
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: ENSMUST00000176751

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,836,191 (GRCm39)	H134R	probably damaging	Het
Adcy4	A	G	14: 56,018,362 (GRCm39)	M195T	probably benign	Het
Aktip	T	C	8: 91,856,285 (GRCm39)	N64S	possibly damaging	Het
Aldoart1	C	A	4: 72,770,747 (GRCm39)	M20I	probably benign	Het
Alms1	T	C	6: 85,592,333 (GRCm39)	L395P	probably damaging	Het
Ankrd9	C	A	12: 110,943,180 (GRCm39)	V252F	probably benign	Het
Apof	A	T	10: 128,104,885 (GRCm39)	H13L	probably benign	Het
Bahcc1	T	C	11: 120,174,172 (GRCm39)	F1644S	possibly damaging	Het
Baz2a	A	G	10: 127,959,726 (GRCm39)	D1377G	possibly damaging	Het
Bbox1	T	A	2: 110,135,794 (GRCm39)	I62F	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTGCTGTGGTCACTGGT	3: 95,795,487 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,795,455 (GRCm39)		probably benign	Het
Bcas3	C	T	11: 85,286,213 (GRCm39)	R124*	probably null	Het
Bpnt1	T	C	1: 185,078,879 (GRCm39)	V114A	probably damaging	Het
Ccnd1	C	T	7: 144,487,793 (GRCm39)	R228H	possibly damaging	Het
Cd244a	T	C	1: 171,404,853 (GRCm39)	V235A	probably benign	Het
Cramp1	C	T	17: 25,201,440 (GRCm39)	E681K	probably damaging	Het
Crebbp	C	T	16: 3,902,574 (GRCm39)	A2222T	probably benign	Het
Cyp1a2	T	A	9: 57,589,620 (GRCm39)	T65S	probably benign	Het
Cyp26b1	T	G	6: 84,561,351 (GRCm39)	K104Q	probably benign	Het
D430041D05Rik	T	C	2: 104,071,581 (GRCm39)	I556V	probably benign	Het
Dnase1l2	A	G	17: 24,661,219 (GRCm39)	L102P	probably damaging	Het
Eef1ece2	C	A	16: 20,457,417 (GRCm39)	A483E	probably damaging	Het
Elac1	C	T	18: 73,871,925 (GRCm39)	G357S	probably benign	Het
Enam	C	A	5: 88,651,830 (GRCm39)	T1113N	possibly damaging	Het
Eogt	A	T	6: 97,090,870 (GRCm39)	I423N	probably damaging	Het
Epc2	T	C	2: 49,435,831 (GRCm39)	S612P	possibly damaging	Het
Fam107b	T	C	2: 3,773,959 (GRCm39)	V24A	probably damaging	Het
Fhip2a	A	G	19: 57,373,750 (GRCm39)	H670R	possibly damaging	Het
Foxj3	C	T	4: 119,477,429 (GRCm39)	P413L	unknown	Het
Frg1	T	C	8: 41,870,040 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,820,455 (GRCm39)	V5396D	possibly damaging	Het
Hdlbp	T	C	1: 93,364,821 (GRCm39)	T149A	possibly damaging	Het
Heatr1	A	T	13: 12,453,545 (GRCm39)	Q2140L	probably damaging	Het
Iqcd	T	C	5: 120,744,881 (GRCm39)	L403P	probably damaging	Het
Kifbp	A	G	10: 62,413,852 (GRCm39)	I102T	probably benign	Het
Kpna2	T	G	11: 106,879,789 (GRCm39)	N505T	probably benign	Het
Lipo3	T	A	19: 33,757,785 (GRCm39)	E228V	probably benign	Het
Map4k3	C	T	17: 80,922,500 (GRCm39)	V474I	possibly damaging	Het
Mrpl11	T	C	19: 5,012,424 (GRCm39)	S2P	probably damaging	Het
Mug2	A	G	6: 122,017,678 (GRCm39)	I472V	probably benign	Het
Myom1	G	A	17: 71,391,235 (GRCm39)	V915M	possibly damaging	Het
Nedd9	A	T	13: 41,492,198 (GRCm39)	I104N	possibly damaging	Het
Nphp3	A	G	9: 103,909,159 (GRCm39)	M790V	probably benign	Het
Nr3c2	C	T	8: 77,635,838 (GRCm39)	P313L	probably damaging	Het
Obsl1	A	G	1: 75,469,365 (GRCm39)	V1192A	probably benign	Het
Or10j2	C	T	1: 173,098,440 (GRCm39)	R233W	probably benign	Het
Or52e7	A	G	7: 104,684,750 (GRCm39)	H115R	probably damaging	Het
Or5t16	T	C	2: 86,818,663 (GRCm39)	I286V	possibly damaging	Het
Prr5l	T	G	2: 101,565,083 (GRCm39)	E151A	probably damaging	Het
Psmb8	G	T	17: 34,417,404 (GRCm39)	R11L	probably benign	Het
Ptprg	T	A	14: 12,211,668 (GRCm38)	H983Q	probably benign	Het
Ptprj	T	C	2: 90,290,940 (GRCm39)	N600D	possibly damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rc3h1	A	G	1: 160,778,454 (GRCm39)	S460G	probably damaging	Het
Sall1	T	C	8: 89,757,927 (GRCm39)	T726A	probably damaging	Het
Samd9l	G	A	6: 3,373,646 (GRCm39)	T1205I	probably benign	Het
Sh2b3	C	T	5: 121,956,822 (GRCm39)		probably null	Het
Slc22a18	G	T	7: 143,044,557 (GRCm39)	C170F	probably damaging	Het
Slc24a1	G	A	9: 64,855,209 (GRCm39)	T566I	unknown	Het
Slc4a5	T	A	6: 83,237,517 (GRCm39)	C167S	probably damaging	Het
Slc8b1	T	G	5: 120,671,100 (GRCm39)	V579G	probably damaging	Het
Snrnp200	T	C	2: 127,063,822 (GRCm39)	V667A	probably damaging	Het
Sp8	C	A	12: 118,813,070 (GRCm39)	S308R	possibly damaging	Het
Srsf9	T	A	5: 115,468,619 (GRCm39)	V85E	probably damaging	Het
Syne1	T	C	10: 5,168,527 (GRCm39)	I5285V	probably benign	Het
Tmem245	T	C	4: 56,947,069 (GRCm39)	I115V	probably benign	Het
Triqk	A	G	4: 12,980,502 (GRCm39)	D82G	probably benign	Het
Trmt11	A	T	10: 30,463,520 (GRCm39)	S198R	probably damaging	Het
Ube4b	C	T	4: 149,471,661 (GRCm39)	R75Q	probably benign	Het
Ugt3a1	C	T	15: 9,310,779 (GRCm39)	Q354*	probably null	Het
Vmn1r202	A	G	13: 22,685,850 (GRCm39)	V189A	probably benign	Het
Vmn2r26	A	G	6: 124,016,606 (GRCm39)	I357V	probably benign	Het
Wdr6	T	C	9: 108,450,947 (GRCm39)	K914R	probably benign	Het
Zfat	T	C	15: 68,130,535 (GRCm39)	M1V	probably null	Het
Zfp207	A	G	11: 80,280,116 (GRCm39)	M171V	probably benign	Het
Zfp568	C	T	7: 29,697,212 (GRCm39)	T44I	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
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
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'- CAACTAAGCCAGGCACTAGG -3'
(R):5'- AAAGGTGGACTTTCCTGGC -3'

Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- TGGACTTTCCTGGCCTCAGAG -3'

Posted On

2019-11-12