Incidental Mutation 'R5993:Rhot2'
| ID |
480970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhot2
|
| Ensembl Gene |
ENSMUSG00000025733 |
| Gene Name |
ras homolog family member T2 |
| Synonyms |
Miro2, Arht2 |
| MMRRC Submission |
044172-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R5993 (G1)
|
| Quality Score |
199.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26057431-26063499 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26060085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 299
(T299S)
|
| 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: T299S
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044639
Gene: ENSMUSG00000025733
AA Change: T299S
| 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 |
probably benign
Transcript: ENSMUST00000176751
AA Change: T88S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176575
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177170
|
| 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: ENSMUST00000177315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,236,604 (GRCm39) |
N805K |
probably damaging |
Het |
| Add1 |
A |
C |
5: 34,758,877 (GRCm39) |
S64R |
probably damaging |
Het |
| Alas1 |
A |
G |
9: 106,111,328 (GRCm39) |
F613L |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,487,531 (GRCm39) |
|
probably benign |
Het |
| Anks3 |
C |
T |
16: 4,776,001 (GRCm39) |
G67D |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,407,269 (GRCm39) |
T2052I |
probably benign |
Het |
| Atp8b4 |
C |
T |
2: 126,245,154 (GRCm39) |
V332I |
probably benign |
Het |
| Bin2 |
CGGAGCTGA |
C |
15: 100,542,901 (GRCm39) |
|
probably null |
Het |
| Bpifb3 |
T |
A |
2: 153,771,234 (GRCm39) |
M382K |
probably benign |
Het |
| Ccdc149 |
C |
T |
5: 52,560,117 (GRCm39) |
R246Q |
probably damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,785,550 (GRCm39) |
K462E |
possibly damaging |
Het |
| Cux1 |
T |
C |
5: 136,392,125 (GRCm39) |
T9A |
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 44,000,799 (GRCm39) |
Y362H |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,998,412 (GRCm39) |
I998T |
probably damaging |
Het |
| Dclre1a |
A |
C |
19: 56,531,169 (GRCm39) |
Y726D |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,299,372 (GRCm39) |
V1578A |
probably benign |
Het |
| Dppa4 |
C |
T |
16: 48,109,709 (GRCm39) |
R110* |
probably null |
Het |
| Drc7 |
T |
A |
8: 95,800,820 (GRCm39) |
V614E |
probably benign |
Het |
| Garin2 |
C |
A |
12: 78,762,210 (GRCm39) |
N12K |
probably damaging |
Het |
| Gcc1 |
G |
A |
6: 28,424,851 (GRCm39) |
|
probably null |
Het |
| Greb1l |
G |
A |
18: 10,544,455 (GRCm39) |
D1350N |
probably benign |
Het |
| Kcnc1 |
G |
A |
7: 46,076,956 (GRCm39) |
V253M |
probably damaging |
Het |
| Krt78 |
T |
A |
15: 101,858,884 (GRCm39) |
I323F |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,978,324 (GRCm39) |
V320A |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,454,161 (GRCm39) |
F112Y |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,310,138 (GRCm39) |
T800A |
probably damaging |
Het |
| Mroh1 |
C |
A |
15: 76,330,880 (GRCm39) |
A1197E |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,526,220 (GRCm39) |
H39Q |
probably benign |
Het |
| Nop2 |
C |
T |
6: 125,120,982 (GRCm39) |
T588I |
probably benign |
Het |
| Oxld1 |
A |
G |
11: 120,347,835 (GRCm39) |
S121P |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,855,273 (GRCm39) |
K444E |
possibly damaging |
Het |
| Prox1 |
T |
A |
1: 189,894,436 (GRCm39) |
D3V |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,876,296 (GRCm39) |
T1052A |
probably benign |
Het |
| Rhov |
A |
G |
2: 119,100,533 (GRCm39) |
F235L |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,841,863 (GRCm39) |
R158S |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,875,490 (GRCm39) |
E431D |
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,274,307 (GRCm39) |
E186G |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,466,572 (GRCm39) |
L158H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,280,946 (GRCm39) |
T40A |
probably benign |
Het |
| Shroom3 |
A |
T |
5: 93,088,047 (GRCm39) |
S185C |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,666,276 (GRCm39) |
V1183D |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,739,732 (GRCm39) |
V3405A |
probably benign |
Het |
| Supt16 |
C |
A |
14: 52,415,791 (GRCm39) |
R357L |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,069,253 (GRCm39) |
|
probably null |
Het |
| Topaz1 |
T |
C |
9: 122,578,104 (GRCm39) |
L338S |
probably benign |
Het |
| Ttll3 |
T |
A |
6: 113,374,992 (GRCm39) |
Y139* |
probably null |
Het |
| Ttn |
T |
G |
2: 76,626,251 (GRCm39) |
D6641A |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,743,163 (GRCm39) |
D886G |
probably benign |
Het |
| Zc3h7a |
T |
A |
16: 10,968,526 (GRCm39) |
K484N |
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 |
|
|
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'- TGTGTAAGAGTTCAGGGCCC -3'
(R):5'- CTTGGTCTCTGAGCACACACTC -3'
Sequencing Primer
(F):5'- CACACTGAAGAGATTCTGTAGTTCCG -3'
(R):5'- GGTCTCTGAGCACACACTCATTAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation