Incidental Mutation 'R6479:Rhot2'
| ID |
517002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhot2
|
| Ensembl Gene |
ENSMUSG00000025733 |
| Gene Name |
ras homolog family member T2 |
| Synonyms |
Miro2, Arht2 |
| MMRRC Submission |
044611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R6479 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26057431-26063499 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26060054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 309
(V309E)
|
| 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: V309E
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000044639
Gene: ENSMUSG00000025733
AA Change: V309E
| 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: V98E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177062
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000177122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176575
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176602
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176591
|
| 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: ENSMUST00000177315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177470
|
| 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: ENSMUST00000177347
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.0%
|
| Validation Efficiency |
95% (55/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
A |
C |
8: 25,119,681 (GRCm39) |
S533A |
probably benign |
Het |
| Akap6 |
T |
G |
12: 53,187,952 (GRCm39) |
S1789A |
probably damaging |
Het |
| Alox15 |
A |
G |
11: 70,236,011 (GRCm39) |
S519P |
probably damaging |
Het |
| Anapc2 |
A |
G |
2: 25,175,407 (GRCm39) |
K816E |
probably benign |
Het |
| Atp6v1a |
T |
C |
16: 43,919,121 (GRCm39) |
D488G |
probably benign |
Het |
| Banp |
A |
G |
8: 122,718,176 (GRCm39) |
|
probably null |
Het |
| Camsap1 |
A |
G |
2: 25,825,874 (GRCm39) |
C1367R |
possibly damaging |
Het |
| Casz1 |
C |
A |
4: 149,021,535 (GRCm39) |
H539Q |
probably damaging |
Het |
| Ccl5 |
A |
G |
11: 83,421,212 (GRCm39) |
Y26H |
probably benign |
Het |
| Cops3 |
A |
T |
11: 59,723,898 (GRCm39) |
S86R |
probably benign |
Het |
| Cts7 |
A |
G |
13: 61,503,455 (GRCm39) |
S170P |
probably benign |
Het |
| Cxcl15 |
A |
T |
5: 90,943,104 (GRCm39) |
E35D |
possibly damaging |
Het |
| Dennd1b |
C |
T |
1: 138,969,698 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
T |
C |
12: 104,662,982 (GRCm39) |
D1533G |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,878,954 (GRCm39) |
E1531G |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,811,612 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Gm10309 |
A |
T |
17: 86,812,007 (GRCm39) |
M1K |
probably null |
Het |
| Gm4884 |
A |
T |
7: 40,690,211 (GRCm39) |
N36Y |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,553,053 (GRCm39) |
R2546* |
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,315,480 (GRCm39) |
D3743G |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,354,157 (GRCm39) |
E114V |
possibly damaging |
Het |
| Irak2 |
A |
T |
6: 113,663,902 (GRCm39) |
N423Y |
probably damaging |
Het |
| Jarid2 |
G |
A |
13: 45,001,765 (GRCm39) |
G26D |
probably benign |
Het |
| Kif13b |
A |
G |
14: 64,988,974 (GRCm39) |
K785R |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,777,413 (GRCm39) |
I20F |
probably benign |
Het |
| Limk1 |
G |
A |
5: 134,690,373 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,317,429 (GRCm39) |
T851I |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,248,353 (GRCm39) |
|
probably benign |
Het |
| Megf10 |
T |
C |
18: 57,379,642 (GRCm39) |
F273L |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,700,700 (GRCm39) |
D73E |
probably damaging |
Het |
| Mroh7 |
A |
G |
4: 106,560,385 (GRCm39) |
F640L |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,635,457 (GRCm39) |
S2448P |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,467,877 (GRCm39) |
V377A |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,750,086 (GRCm39) |
V183A |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,752 (GRCm39) |
R755H |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,110,207 (GRCm39) |
T275A |
probably benign |
Het |
| Or52n4 |
A |
G |
7: 104,294,333 (GRCm39) |
I80T |
probably benign |
Het |
| Osgepl1 |
T |
C |
1: 53,360,702 (GRCm39) |
V381A |
probably benign |
Het |
| Pcdha1 |
C |
T |
18: 37,064,509 (GRCm39) |
T391I |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,327 (GRCm39) |
N328S |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,740,147 (GRCm39) |
E340G |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,651,931 (GRCm39) |
T387A |
probably benign |
Het |
| Plxnb1 |
C |
A |
9: 108,940,733 (GRCm39) |
T1536K |
possibly damaging |
Het |
| Rbp7 |
T |
C |
4: 149,534,347 (GRCm39) |
T130A |
probably benign |
Het |
| Slc37a1 |
A |
G |
17: 31,557,964 (GRCm39) |
I421M |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,389,331 (GRCm39) |
L585H |
probably damaging |
Het |
| Spint4 |
C |
A |
2: 164,542,764 (GRCm39) |
A119D |
probably benign |
Het |
| Strip2 |
G |
T |
6: 29,944,496 (GRCm39) |
|
probably null |
Het |
| Stxbp4 |
T |
C |
11: 90,510,013 (GRCm39) |
Y59C |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,181,679 (GRCm39) |
Q4219* |
probably null |
Het |
| Syne1 |
A |
T |
10: 5,406,826 (GRCm39) |
I37N |
probably damaging |
Het |
| Syne4 |
G |
T |
7: 30,016,340 (GRCm39) |
G179* |
probably null |
Het |
| Tead1 |
T |
C |
7: 112,460,672 (GRCm39) |
V192A |
probably benign |
Het |
| Trim37 |
G |
T |
11: 87,107,313 (GRCm39) |
E317* |
probably null |
Het |
| Wdfy3 |
A |
C |
5: 102,061,045 (GRCm39) |
Y1390D |
probably damaging |
Het |
| Wdr81 |
A |
G |
11: 75,342,931 (GRCm39) |
F779L |
possibly damaging |
Het |
| Zfp1002 |
C |
T |
2: 150,096,511 (GRCm39) |
G306D |
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 |
|
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'- CTGTGTGTAAGAGTTCAGGGCC -3'
(R):5'- TGGTCTCTGAGCACACACTC -3'
Sequencing Primer
(F):5'- TGTAAGAGTTCAGGGCCCCATG -3'
(R):5'- GGTCTCTGAGCACACACTCATTAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation