Incidental Mutation 'R1436:Rhot2'
ID |
160666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rhot2
|
Ensembl Gene |
ENSMUSG00000025733 |
Gene Name |
ras homolog family member T2 |
Synonyms |
Miro2, Arht2 |
MMRRC Submission |
039491-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R1436 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26057431-26063499 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 26060374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 277
(S277R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026831]
[ENSMUST00000043897]
[ENSMUST00000079461]
[ENSMUST00000176923]
[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: S277R
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000044639 Gene: ENSMUSG00000025733 AA Change: S277R
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 |
unknown
Transcript: ENSMUST00000176751
AA Change: S66R
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176583
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176602
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177170
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176857
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177122
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177062
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176575
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176983
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176591
|
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: 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: ENSMUST00000180868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177315
|
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 86.8%
|
Validation Efficiency |
94% (65/69) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,621,172 (GRCm39) |
F292S |
probably benign |
Het |
Aadacl2fm3 |
A |
T |
3: 59,772,760 (GRCm39) |
D88V |
probably damaging |
Het |
Abca13 |
T |
C |
11: 9,242,646 (GRCm39) |
V1503A |
probably damaging |
Het |
AI661453 |
C |
T |
17: 47,777,627 (GRCm39) |
|
probably benign |
Het |
Ano2 |
T |
C |
6: 125,844,134 (GRCm39) |
|
probably null |
Het |
Areg |
G |
T |
5: 91,287,664 (GRCm39) |
|
probably benign |
Het |
Atg16l2 |
A |
G |
7: 100,940,757 (GRCm39) |
V453A |
probably damaging |
Het |
BC034090 |
A |
G |
1: 155,101,662 (GRCm39) |
S563P |
probably benign |
Het |
Bhmt-ps1 |
A |
G |
4: 26,369,591 (GRCm39) |
|
noncoding transcript |
Het |
Birc6 |
C |
A |
17: 74,959,700 (GRCm39) |
P3855Q |
probably damaging |
Het |
Cd151 |
A |
T |
7: 141,049,197 (GRCm39) |
K8M |
probably damaging |
Het |
Cd163 |
T |
C |
6: 124,304,890 (GRCm39) |
V1089A |
possibly damaging |
Het |
Chd3 |
A |
T |
11: 69,248,400 (GRCm39) |
|
probably null |
Het |
Cnot6l |
T |
A |
5: 96,281,971 (GRCm39) |
E9V |
probably damaging |
Het |
Col22a1 |
A |
G |
15: 71,794,806 (GRCm39) |
|
probably benign |
Het |
Cyp2c68 |
A |
G |
19: 39,729,484 (GRCm39) |
M1T |
probably null |
Het |
Dbp |
T |
C |
7: 45,357,879 (GRCm39) |
V149A |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,839,285 (GRCm39) |
V1241A |
probably benign |
Het |
Galnt10 |
T |
C |
11: 57,662,295 (GRCm39) |
S314P |
probably damaging |
Het |
Glce |
C |
T |
9: 61,977,292 (GRCm39) |
|
probably null |
Het |
Gm5093 |
C |
G |
17: 46,750,680 (GRCm39) |
D116H |
probably damaging |
Het |
Golim4 |
A |
G |
3: 75,785,951 (GRCm39) |
|
probably null |
Het |
Helz2 |
A |
T |
2: 180,877,317 (GRCm39) |
I1107N |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,890,304 (GRCm39) |
S74P |
probably benign |
Het |
Ikbkb |
T |
A |
8: 23,163,419 (GRCm39) |
N297I |
probably benign |
Het |
Il20ra |
T |
A |
10: 19,625,000 (GRCm39) |
I93N |
probably damaging |
Het |
Itch |
C |
A |
2: 155,034,065 (GRCm39) |
N412K |
probably damaging |
Het |
Kcna5 |
T |
A |
6: 126,511,724 (GRCm39) |
T135S |
probably damaging |
Het |
Lncpint |
G |
A |
6: 31,157,974 (GRCm39) |
|
noncoding transcript |
Het |
Lrrc39 |
A |
T |
3: 116,373,293 (GRCm39) |
|
probably null |
Het |
Mad2l1 |
T |
A |
6: 66,516,797 (GRCm39) |
V163E |
possibly damaging |
Het |
Moxd1 |
C |
T |
10: 24,120,256 (GRCm39) |
T128M |
probably damaging |
Het |
Mpeg1 |
C |
T |
19: 12,439,823 (GRCm39) |
S427F |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,953,798 (GRCm39) |
Y854C |
possibly damaging |
Het |
Ncln |
C |
T |
10: 81,325,727 (GRCm39) |
E373K |
probably damaging |
Het |
Neurod4 |
T |
C |
10: 130,106,540 (GRCm39) |
T245A |
possibly damaging |
Het |
Nsun5 |
T |
C |
5: 135,399,067 (GRCm39) |
L39P |
probably damaging |
Het |
Or2ad1 |
G |
T |
13: 21,327,162 (GRCm39) |
Q22K |
probably benign |
Het |
Or4c105 |
A |
T |
2: 88,648,336 (GRCm39) |
T274S |
possibly damaging |
Het |
Or4f7 |
A |
G |
2: 111,644,906 (GRCm39) |
L55S |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,162,678 (GRCm39) |
T815A |
probably benign |
Het |
Pofut2 |
C |
T |
10: 77,104,398 (GRCm39) |
R392W |
probably damaging |
Het |
Ppip5k2 |
G |
A |
1: 97,639,507 (GRCm39) |
T1186I |
probably benign |
Het |
Satb1 |
T |
G |
17: 52,111,391 (GRCm39) |
|
probably null |
Het |
Sec31b |
T |
C |
19: 44,524,634 (GRCm39) |
I88V |
probably damaging |
Het |
Selenon |
T |
A |
4: 134,267,997 (GRCm39) |
E483V |
probably damaging |
Het |
Serpinc1 |
A |
G |
1: 160,820,981 (GRCm39) |
T22A |
possibly damaging |
Het |
Sf3a2 |
G |
A |
10: 80,640,040 (GRCm39) |
|
probably benign |
Het |
Sf3b1 |
A |
G |
1: 55,040,580 (GRCm39) |
Y561H |
possibly damaging |
Het |
Smarcc1 |
T |
A |
9: 109,947,708 (GRCm39) |
|
probably benign |
Het |
Stard3nl |
C |
T |
13: 19,556,819 (GRCm39) |
R107Q |
probably damaging |
Het |
Syce1 |
C |
T |
7: 140,357,593 (GRCm39) |
R324H |
possibly damaging |
Het |
Tnk1 |
G |
T |
11: 69,743,119 (GRCm39) |
|
probably benign |
Het |
Trim46 |
A |
G |
3: 89,150,968 (GRCm39) |
F198L |
probably damaging |
Het |
Trip4 |
A |
T |
9: 65,788,233 (GRCm39) |
W71R |
probably damaging |
Het |
Ubox5 |
A |
C |
2: 130,439,213 (GRCm39) |
|
probably benign |
Het |
Ust |
G |
A |
10: 8,183,202 (GRCm39) |
T167M |
probably damaging |
Het |
Zbtb2 |
T |
C |
10: 4,318,697 (GRCm39) |
Q443R |
probably benign |
Het |
Zfp407 |
A |
G |
18: 84,361,196 (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 |
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 |
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'- GTCACAAGGCAGGGTTACTGTCAC -3'
(R):5'- TGGTGTGCAAGAACGTGTCAGG -3'
Sequencing Primer
(F):5'- CCTGTGACAGTTAAAAGTGCCTG -3'
(R):5'- TGCAGAATGACCGGCTGAC -3'
|
Posted On |
2014-03-14 |