Incidental Mutation 'R3770:Rhot2'
ID |
273242 |
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: 0.143)
|
Stock # |
R3770 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
26057431-26063499 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26059521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 407
(D407G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026831]
[ENSMUST00000043897]
[ENSMUST00000079461]
[ENSMUST00000176923]
[ENSMUST00000176709]
[ENSMUST00000184865]
[ENSMUST00000183929]
|
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: D407G
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000044639 Gene: ENSMUSG00000025733 AA Change: D407G
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: ENSMUST00000176247
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176522
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177122
|
Predicted Effect |
unknown
Transcript: ENSMUST00000176751
AA Change: D196G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176575
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176983
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177170
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176857
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177062
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176583
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176602
|
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: 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 |
noncoding transcript
Transcript: ENSMUST00000177470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177347
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177315
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184865
|
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 |
|
Meta Mutation Damage Score |
0.4496 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox1 |
T |
C |
11: 116,065,213 (GRCm39) |
D578G |
probably damaging |
Het |
Adgrb1 |
T |
A |
15: 74,460,157 (GRCm39) |
I543N |
probably damaging |
Het |
Agbl1 |
T |
C |
7: 76,075,677 (GRCm39) |
|
probably null |
Het |
Ano1 |
A |
G |
7: 144,149,306 (GRCm39) |
Y852H |
probably damaging |
Het |
Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
Atp1a1 |
T |
C |
3: 101,488,510 (GRCm39) |
D842G |
probably benign |
Het |
Brd7 |
A |
T |
8: 89,066,035 (GRCm39) |
|
probably null |
Het |
Btbd7 |
G |
A |
12: 102,761,451 (GRCm39) |
P578L |
probably damaging |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cfap54 |
C |
T |
10: 92,714,398 (GRCm39) |
M2660I |
unknown |
Het |
Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,391,989 (GRCm39) |
D410G |
probably benign |
Het |
Foxk2 |
CGGGGGG |
CGGGGGGGGG |
11: 121,151,317 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,814,755 (GRCm39) |
I2703V |
probably benign |
Het |
Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
Iqcg |
G |
A |
16: 32,870,378 (GRCm39) |
|
silent |
Het |
Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
Lipo5 |
G |
T |
19: 33,445,200 (GRCm39) |
T123N |
unknown |
Het |
Macf1 |
A |
G |
4: 123,268,560 (GRCm39) |
S4689P |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 19,900,765 (GRCm39) |
V313D |
probably damaging |
Het |
Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
Neurl1a |
T |
C |
19: 47,228,328 (GRCm39) |
L58P |
probably damaging |
Het |
Or5aq1 |
C |
T |
2: 86,966,158 (GRCm39) |
C169Y |
probably damaging |
Het |
Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
Rasal3 |
A |
T |
17: 32,611,125 (GRCm39) |
L912Q |
probably damaging |
Het |
Reln |
C |
T |
5: 22,153,564 (GRCm39) |
V2247M |
probably damaging |
Het |
Rreb1 |
C |
T |
13: 38,113,579 (GRCm39) |
R313W |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scn11a |
T |
A |
9: 119,613,115 (GRCm39) |
D825V |
probably damaging |
Het |
Slc12a3 |
A |
G |
8: 95,079,668 (GRCm39) |
H832R |
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,409,718 (GRCm39) |
D300G |
possibly damaging |
Het |
Sos1 |
A |
G |
17: 80,705,737 (GRCm39) |
V1278A |
probably damaging |
Het |
Sstr3 |
C |
A |
15: 78,424,577 (GRCm39) |
V57L |
probably damaging |
Het |
Tex2 |
T |
A |
11: 106,435,078 (GRCm39) |
R783W |
unknown |
Het |
Tjp2 |
A |
T |
19: 24,078,190 (GRCm39) |
I901N |
probably benign |
Het |
Top1 |
A |
T |
2: 160,563,442 (GRCm39) |
I758F |
probably damaging |
Het |
Trim41 |
T |
C |
11: 48,699,911 (GRCm39) |
E98G |
possibly damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,589,623 (GRCm39) |
N764K |
probably damaging |
Het |
Vmn2r81 |
A |
T |
10: 79,106,434 (GRCm39) |
I471F |
probably damaging |
Het |
Wdr25 |
G |
A |
12: 108,864,346 (GRCm39) |
V164M |
probably damaging |
Het |
Zdhhc13 |
T |
A |
7: 48,452,692 (GRCm39) |
L5M |
probably damaging |
Het |
Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
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 |
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 |
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'- GACCCGCACTGTATTGATGG -3'
(R):5'- ACCTTGGCTACCTGGGTTAC -3'
Sequencing Primer
(F):5'- CAGGAAGAGTTTTTGGCCCCAG -3'
(R):5'- GGTTACCCTACCCTCTGTGAACAG -3'
|
Posted On |
2015-03-25 |