Incidental Mutation 'R6523:Rhot2'
ID |
521561 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rhot2
|
Ensembl Gene |
ENSMUSG00000025733 |
Gene Name |
ras homolog family member T2 |
Synonyms |
Miro2, Arht2 |
MMRRC Submission |
044649-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R6523 (G1)
|
Quality Score |
200.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26057431-26063499 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26058394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 393
(V393A)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026831]
[ENSMUST00000043897]
[ENSMUST00000183929]
[ENSMUST00000176709]
[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 |
possibly damaging
Transcript: ENSMUST00000043897
AA Change: V604A
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000044639 Gene: ENSMUSG00000025733 AA Change: V604A
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 |
noncoding transcript
Transcript: ENSMUST00000175790
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176247
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176522
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176583
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176751
AA Change: V393A
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177062
|
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 |
noncoding transcript
Transcript: ENSMUST00000176604
|
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 |
noncoding transcript
Transcript: ENSMUST00000177347
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176602
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177315
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177122
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176882
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176857
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184865
|
Meta Mutation Damage Score |
0.1197 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
97% (68/70) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr1 |
A |
G |
1: 173,160,120 (GRCm39) |
|
probably null |
Het |
Alg2 |
A |
T |
4: 47,472,071 (GRCm39) |
S246T |
possibly damaging |
Het |
Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
Arid4a |
A |
G |
12: 71,114,115 (GRCm39) |
|
probably null |
Het |
AU040320 |
G |
A |
4: 126,762,553 (GRCm39) |
|
probably null |
Het |
B430306N03Rik |
A |
G |
17: 48,626,193 (GRCm39) |
T129A |
possibly damaging |
Het |
Blvrb |
C |
A |
7: 27,165,142 (GRCm39) |
|
probably null |
Het |
Ccdc175 |
T |
C |
12: 72,191,565 (GRCm39) |
N337S |
probably benign |
Het |
Ccdc28b |
A |
C |
4: 129,514,780 (GRCm39) |
F110V |
probably damaging |
Het |
Cd200 |
A |
G |
16: 45,220,633 (GRCm39) |
Y16H |
probably benign |
Het |
Cfh |
T |
G |
1: 140,029,445 (GRCm39) |
E950A |
possibly damaging |
Het |
Clec3a |
A |
T |
8: 115,152,345 (GRCm39) |
Y117F |
probably damaging |
Het |
CN725425 |
A |
G |
15: 91,115,784 (GRCm39) |
S9G |
probably benign |
Het |
Coasy |
T |
A |
11: 100,976,944 (GRCm39) |
W535R |
probably damaging |
Het |
Cox4i1 |
T |
A |
8: 121,399,480 (GRCm39) |
S30R |
probably benign |
Het |
Csnk1a1 |
G |
A |
18: 61,688,829 (GRCm39) |
S3N |
probably benign |
Het |
Dcst2 |
C |
G |
3: 89,280,808 (GRCm39) |
L669V |
probably benign |
Het |
Dnah14 |
A |
G |
1: 181,471,186 (GRCm39) |
I1346V |
probably benign |
Het |
Fbxw24 |
G |
A |
9: 109,434,048 (GRCm39) |
R421* |
probably null |
Het |
Fstl5 |
G |
A |
3: 76,443,641 (GRCm39) |
V329I |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,888,235 (GRCm39) |
|
probably null |
Het |
Gna11 |
A |
T |
10: 81,380,688 (GRCm39) |
I25N |
probably damaging |
Het |
Greb1 |
C |
T |
12: 16,734,374 (GRCm39) |
V1539I |
possibly damaging |
Het |
Hipk3 |
T |
A |
2: 104,269,753 (GRCm39) |
T479S |
possibly damaging |
Het |
Hspa1b |
A |
G |
17: 35,176,167 (GRCm39) |
I606T |
probably benign |
Het |
Idnk |
T |
A |
13: 58,311,457 (GRCm39) |
F141L |
probably damaging |
Het |
Ifit3 |
A |
G |
19: 34,565,555 (GRCm39) |
N367S |
probably benign |
Het |
Kcnn1 |
A |
T |
8: 71,299,169 (GRCm39) |
D448E |
possibly damaging |
Het |
Krt14 |
T |
C |
11: 100,095,923 (GRCm39) |
T212A |
possibly damaging |
Het |
Ldlr |
G |
A |
9: 21,648,549 (GRCm39) |
C285Y |
probably damaging |
Het |
Mark3 |
G |
A |
12: 111,593,669 (GRCm39) |
V234I |
probably damaging |
Het |
Meikin |
T |
A |
11: 54,289,327 (GRCm39) |
Y233* |
probably null |
Het |
Mtcl2 |
G |
A |
2: 156,902,263 (GRCm39) |
Q251* |
probably null |
Het |
Muc20 |
T |
C |
16: 32,613,820 (GRCm39) |
D519G |
possibly damaging |
Het |
Nalcn |
T |
A |
14: 123,555,255 (GRCm39) |
H876L |
probably benign |
Het |
Ncaph |
A |
T |
2: 126,947,809 (GRCm39) |
I698K |
probably damaging |
Het |
Nipal1 |
A |
T |
5: 72,824,951 (GRCm39) |
I215F |
probably damaging |
Het |
Nrde2 |
A |
T |
12: 100,100,664 (GRCm39) |
D607E |
possibly damaging |
Het |
Nt5dc2 |
T |
C |
14: 30,857,662 (GRCm39) |
F217S |
probably damaging |
Het |
Ntsr2 |
T |
A |
12: 16,706,697 (GRCm39) |
S156T |
probably benign |
Het |
Or13c9 |
A |
T |
4: 52,935,500 (GRCm39) |
I261N |
probably damaging |
Het |
Or5b110-ps1 |
A |
C |
19: 13,259,728 (GRCm39) |
D231E |
probably benign |
Het |
Or5p4 |
A |
C |
7: 107,680,762 (GRCm39) |
T254P |
probably benign |
Het |
Pfas |
A |
T |
11: 68,881,283 (GRCm39) |
I1028K |
probably benign |
Het |
Pnpla5 |
C |
A |
15: 83,999,912 (GRCm39) |
R329L |
possibly damaging |
Het |
Pramel30 |
T |
C |
4: 144,058,218 (GRCm39) |
V275A |
probably benign |
Het |
Rigi |
T |
A |
4: 40,205,947 (GRCm39) |
T882S |
probably benign |
Het |
Rnase9 |
T |
A |
14: 51,276,684 (GRCm39) |
Y98F |
possibly damaging |
Het |
Sacs |
C |
A |
14: 61,440,410 (GRCm39) |
L819I |
probably damaging |
Het |
Sall3 |
C |
T |
18: 81,016,403 (GRCm39) |
M508I |
possibly damaging |
Het |
Scube3 |
G |
A |
17: 28,381,362 (GRCm39) |
C301Y |
probably damaging |
Het |
Sgo2b |
G |
T |
8: 64,380,538 (GRCm39) |
H765N |
probably benign |
Het |
Sh3gl1 |
A |
T |
17: 56,324,617 (GRCm39) |
Y344N |
possibly damaging |
Het |
Slc15a2 |
A |
G |
16: 36,572,683 (GRCm39) |
V635A |
probably benign |
Het |
Slc1a4 |
T |
A |
11: 20,282,114 (GRCm39) |
Y40F |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,117,305 (GRCm39) |
K755* |
probably null |
Het |
Slco1a5 |
C |
T |
6: 142,212,121 (GRCm39) |
G38R |
probably damaging |
Het |
Snx25 |
T |
A |
8: 46,508,892 (GRCm39) |
D564V |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,486,018 (GRCm39) |
D189E |
probably benign |
Het |
Sptbn5 |
T |
C |
2: 119,896,095 (GRCm39) |
|
probably null |
Het |
Ssbp2 |
A |
G |
13: 91,841,170 (GRCm39) |
I317V |
probably benign |
Het |
Stil |
AAGATTTCCAG |
A |
4: 114,889,911 (GRCm39) |
|
probably null |
Het |
Strn3 |
A |
T |
12: 51,689,881 (GRCm39) |
|
probably null |
Het |
Tcaf2 |
A |
T |
6: 42,619,953 (GRCm39) |
F25I |
probably benign |
Het |
Themis |
C |
T |
10: 28,657,894 (GRCm39) |
T154I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,626,390 (GRCm39) |
R13176G |
probably damaging |
Het |
Utp4 |
G |
A |
8: 107,625,095 (GRCm39) |
V125M |
probably damaging |
Het |
Vmn1r119 |
T |
A |
7: 20,745,777 (GRCm39) |
M202L |
possibly damaging |
Het |
Zfp292 |
G |
C |
4: 34,816,301 (GRCm39) |
F329L |
probably benign |
Het |
Zfp541 |
C |
T |
7: 15,829,445 (GRCm39) |
P1281L |
probably damaging |
Het |
Zfp616 |
A |
T |
11: 73,973,968 (GRCm39) |
Q79L |
possibly 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 |
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'- TGTAGCCAGCCACACAGATATTAC -3'
(R):5'- TGTCTGGGTACAAAGGTGTCAG -3'
Sequencing Primer
(F):5'- AGATATTACTCCAACAGGCCG -3'
(R):5'- CCCAGAGAGCTATGCTGGATG -3'
|
Posted On |
2018-06-06 |