Incidental Mutation 'R4487:Rhot2'
| ID |
371141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhot2
|
| Ensembl Gene |
ENSMUSG00000025733 |
| Gene Name |
ras homolog family member T2 |
| Synonyms |
Miro2, Arht2 |
| MMRRC Submission |
041743-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R4487 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26057431-26063499 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26058467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 580
(H580Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026831]
[ENSMUST00000043897]
[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: H580Y
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000044639
Gene: ENSMUSG00000025733
AA Change: H580Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000177122
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176751
AA Change: H369Y
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176857
|
| 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 |
probably benign
Transcript: ENSMUST00000176591
|
| 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 |
0.3741 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
A |
G |
9: 50,651,931 (GRCm39) |
L99P |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,588,185 (GRCm39) |
I4467T |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,622 (GRCm39) |
D1500E |
possibly damaging |
Het |
| C1ql2 |
A |
T |
1: 120,269,409 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,512 (GRCm39) |
S891P |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif9 |
A |
G |
9: 110,323,552 (GRCm39) |
E225G |
probably null |
Het |
| Krt76 |
T |
C |
15: 101,798,917 (GRCm39) |
K256R |
possibly damaging |
Het |
| Mapk4 |
T |
C |
18: 74,064,046 (GRCm39) |
D392G |
probably damaging |
Het |
| Mthfr |
A |
G |
4: 148,135,884 (GRCm39) |
K278R |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,960,547 (GRCm39) |
E18V |
probably damaging |
Het |
| Nepro |
A |
G |
16: 44,556,089 (GRCm39) |
K416E |
probably damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,491,909 (GRCm39) |
|
probably null |
Het |
| Nt5m |
A |
G |
11: 59,739,173 (GRCm39) |
Y73C |
probably damaging |
Het |
| Oaz3 |
A |
T |
3: 94,342,437 (GRCm39) |
|
probably null |
Het |
| Pgap1 |
A |
G |
1: 54,567,751 (GRCm39) |
S365P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,429,498 (GRCm39) |
I440T |
possibly damaging |
Het |
| Raph1 |
C |
T |
1: 60,542,028 (GRCm39) |
S362N |
possibly damaging |
Het |
| Rftn2 |
A |
G |
1: 55,241,311 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Rnase2a |
A |
T |
14: 51,493,302 (GRCm39) |
M21K |
unknown |
Het |
| Rusf1 |
T |
C |
7: 127,887,530 (GRCm39) |
D24G |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Snx1 |
A |
T |
9: 65,996,877 (GRCm39) |
V459E |
possibly damaging |
Het |
| Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
| Tg |
G |
A |
15: 66,543,245 (GRCm39) |
C53Y |
probably damaging |
Het |
| Tor1aip1 |
G |
T |
1: 155,882,870 (GRCm39) |
T326K |
probably damaging |
Het |
| Vmn1r61 |
C |
A |
7: 5,613,924 (GRCm39) |
C130F |
possibly damaging |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
|
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'- TAAGGCACCACAGTGTGCTG -3'
(R):5'- AACTTGCTACCATGGCCAC -3'
Sequencing Primer
(F):5'- CAGTGTGCTGTGCCTGG -3'
(R):5'- TGAGTATACCGCAGCCTCAATGTG -3'
|
| Posted On |
2016-02-25 |
Incidental Mutation