Mutagenetix > Incidental Mutation

Incidental Mutation 'R9264:Rhot2'

702451

Institutional Source

Beutler Lab

Gene Symbol

Rhot2

Ensembl Gene

ENSMUSG00000025733

Gene Name

ras homolog family member T2

Synonyms

Miro2, Arht2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R9264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25838457-25844851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25841766 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 210 (N210K)

Ref Sequence

ENSEMBL: ENSMUSP00000044639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026831] [ENSMUST00000043897] [ENSMUST00000079461] [ENSMUST00000176709] [ENSMUST00000176923] [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 damaging
Transcript: ENSMUST00000043897
AA Change: N210K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044639
Gene: ENSMUSG00000025733
AA Change: N210K

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: 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

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	A	19: 11,116,466	M1L	probably benign	Het
Abca15	A	T	7: 120,401,833	I1531L	probably benign	Het
Adam28	T	C	14: 68,607,465	Y791C	probably benign	Het
Ankrd40	T	A	11: 94,338,361	I262N	probably damaging	Het
BC067074	G	A	13: 113,319,480	V687M		Het
Catsperg2	A	T	7: 29,698,188	N1033K	possibly damaging	Het
Cdh10	A	T	15: 18,963,995	D81V	probably damaging	Het
Cep290	T	C	10: 100,498,016	V310A	possibly damaging	Het
Cep78	T	C	19: 15,974,466	Y325C	probably damaging	Het
Clstn3	T	A	6: 124,459,768	D197V	probably damaging	Het
Col11a1	T	C	3: 114,212,160	I1647T	unknown	Het
Col5a1	G	A	2: 27,964,111	R569K	unknown	Het
Cyp4a10	T	C	4: 115,524,278	S180P	probably benign	Het
D630045J12Rik	T	C	6: 38,158,238	I1336V	probably benign	Het
Dchs2	G	A	3: 83,270,477	V946M	probably damaging	Het
Dnah10	A	G	5: 124,736,836	R347G	probably damaging	Het
Dnah11	T	A	12: 118,027,527	D2368V	probably damaging	Het
Ganab	T	C	19: 8,912,864	I719T	possibly damaging	Het
Gm10944	C	A	10: 10,681,839	A11D	unknown	Het
Gmcl1	T	C	6: 86,714,213	M267V	probably benign	Het
Inhbe	T	A	10: 127,350,558	D251V	probably damaging	Het
Kcnj1	G	A	9: 32,396,358	R26Q	probably benign	Het
Lama5	A	G	2: 180,196,478		probably benign	Het
Lin9	T	A	1: 180,667,347	D251E	probably damaging	Het
Magel2	T	A	7: 62,378,596	I416N	possibly damaging	Het
Mdga2	T	C	12: 66,513,283	N772S	probably damaging	Het
Msh3	G	T	13: 92,349,304	Q171K	probably benign	Het
Mslnl	T	G	17: 25,742,532		probably benign	Het
Mtpn	A	G	6: 35,512,241	L116P	possibly damaging	Het
Myh7	T	C	14: 54,975,997	T1351A	probably benign	Het
Nectin3	A	T	16: 46,454,635	I353N	probably damaging	Het
Nprl3	A	T	11: 32,233,948	N500K	probably benign	Het
Nup93	T	A	8: 94,292,720	I181N	probably benign	Het
Olfr1198	T	C	2: 88,746,432	H152R	probably damaging	Het
Olfr362	G	A	2: 37,104,789	T287I	probably damaging	Het
Optc	T	C	1: 133,905,240	I41V	probably benign	Het
Pcdh7	C	A	5: 58,129,321	N1246K	probably benign	Het
Pcdhb3	T	A	18: 37,302,113	D377E	probably benign	Het
Pnpla6	C	T	8: 3,523,294	P386L	probably benign	Het
Polr3a	T	C	14: 24,470,831	T587A	probably benign	Het
Pramel1	T	G	4: 143,398,529	L341R	probably damaging	Het
Slc37a1	A	G	17: 31,300,485	I12V	probably benign	Het
Spata48	T	A	11: 11,464,678	D141E		Het
Sstr3	G	T	15: 78,539,592	N318K	probably damaging	Het
Ssx2ip	T	C	3: 146,437,200	V511A	probably benign	Het
Stfa1	G	A	16: 36,280,568	V57I	unknown	Het
Syne1	T	G	10: 5,262,793	R3265S	probably damaging	Het
Tacc2	G	T	7: 130,626,803	K1739N	probably damaging	Het
Tas2r143	A	T	6: 42,400,739	M168L	probably benign	Het
Tm4sf1	A	T	3: 57,294,610		probably null	Het
Ttc16	A	G	2: 32,763,005	I604T	possibly damaging	Het
Ugt1a10	T	A	1: 88,055,671	W64R	possibly damaging	Het
Usp34	A	T	11: 23,489,064	H3561L		Het
Vasp	C	T	7: 19,259,451	V276I	unknown	Het
Vwa3a	A	G	7: 120,775,464	N333S	probably benign	Het
Wipf3	A	G	6: 54,483,881	N105D	probably benign	Het
Zfp760	T	C	17: 21,723,682	S613P	possibly damaging	Het

Other mutations in Rhot2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Rhot2	APN	17	25841360	critical splice donor site	probably null
IGL02707:Rhot2	APN	17	25844296	missense	probably damaging	1.00
IGL03087:Rhot2	APN	17	25841141	unclassified	probably benign
Endless	UTSW	17	25840912	missense	probably damaging	1.00
eternal	UTSW	17	25842428	splice site	probably null
ewige	UTSW	17	25839420	missense	possibly damaging	0.69
R0634:Rhot2	UTSW	17	25842028	missense	possibly damaging	0.71
R1233:Rhot2	UTSW	17	25844097	missense	probably damaging	1.00
R1436:Rhot2	UTSW	17	25841400	missense	probably benign	0.16
R2902:Rhot2	UTSW	17	25843976	missense	probably damaging	0.99
R3617:Rhot2	UTSW	17	25840981	unclassified	probably benign
R3767:Rhot2	UTSW	17	25840547	missense	probably benign	0.11
R3768:Rhot2	UTSW	17	25840547	missense	probably benign	0.11
R3769:Rhot2	UTSW	17	25840547	missense	probably benign	0.11
R3770:Rhot2	UTSW	17	25840547	missense	probably benign	0.11
R4362:Rhot2	UTSW	17	25842091	missense	probably damaging	1.00
R4487:Rhot2	UTSW	17	25839493	missense	probably benign	0.01
R4670:Rhot2	UTSW	17	25841331	unclassified	probably benign
R4749:Rhot2	UTSW	17	25844274	missense	probably damaging	1.00
R5772:Rhot2	UTSW	17	25839807	missense	probably benign	0.00
R5840:Rhot2	UTSW	17	25840058	missense	probably benign
R5993:Rhot2	UTSW	17	25841111	missense	probably benign	0.45
R6479:Rhot2	UTSW	17	25841080	missense	probably benign	0.22
R6523:Rhot2	UTSW	17	25839420	missense	possibly damaging	0.69
R6597:Rhot2	UTSW	17	25840912	missense	probably damaging	1.00
R7269:Rhot2	UTSW	17	25842428	splice site	probably null
R7427:Rhot2	UTSW	17	25841609	missense	probably damaging	1.00
R7479:Rhot2	UTSW	17	25840749	missense	probably damaging	1.00
R7672:Rhot2	UTSW	17	25843105	critical splice donor site	probably null
R8176:Rhot2	UTSW	17	25844094	missense	probably damaging	1.00
R8258:Rhot2	UTSW	17	25839890	missense	probably benign	0.00
R8259:Rhot2	UTSW	17	25839890	missense	probably benign	0.00
R9409:Rhot2	UTSW	17	25841111	missense	probably benign	0.06
X0067:Rhot2	UTSW	17	25841466	missense	possibly damaging	0.84
Y5409:Rhot2	UTSW	17	25844295	missense	probably damaging	1.00
Z1177:Rhot2	UTSW	17	25840683	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAAGGTGATGTCTGCCTCAC -3'
(R):5'- TCCATGTGGGCCTTGGATAAG -3'

Sequencing Primer
(F):5'- AGCCGGTCATTCTGCACAC -3'
(R):5'- GGAGTACAAGTAAATACGCGTACC -3'

Posted On

2022-03-25