Incidental Mutation 'R4008:Rabep2'
| ID |
311568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabep2
|
| Ensembl Gene |
ENSMUSG00000030727 |
| Gene Name |
rabaptin, RAB GTPase binding effector protein 2 |
| Synonyms |
2610011A08Rik |
| MMRRC Submission |
040946-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
R4008 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126027596-126045079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 126044546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 547
(D547E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032974]
[ENSMUST00000106405]
[ENSMUST00000106407]
|
| AlphaFold |
Q91WG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032974
|
| SMART Domains |
Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
3 |
77 |
4.39e-16 |
SMART |
|
Pfam:E1-E2_ATPase
|
92 |
340 |
1.5e-66 |
PFAM |
|
Pfam:Hydrolase
|
345 |
715 |
7.5e-20 |
PFAM |
|
Pfam:HAD
|
348 |
712 |
1.2e-18 |
PFAM |
|
Pfam:Cation_ATPase
|
418 |
528 |
3.2e-23 |
PFAM |
|
Pfam:Hydrolase_3
|
683 |
747 |
2.3e-7 |
PFAM |
|
Pfam:Cation_ATPase_C
|
784 |
987 |
4.8e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106405
AA Change: D504E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102013
Gene: ENSMUSG00000030727
AA Change: D504E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
2 |
107 |
1.4e-41 |
PFAM |
|
low complexity region
|
139 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
194 |
N/A |
INTRINSIC |
|
Pfam:Rabaptin
|
196 |
311 |
5.9e-10 |
PFAM |
|
Pfam:Rab5-bind
|
289 |
456 |
4.6e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106407
AA Change: D547E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102015
Gene: ENSMUSG00000030727
AA Change: D547E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
13 |
171 |
1.4e-39 |
PFAM |
|
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
237 |
N/A |
INTRINSIC |
|
Pfam:Rab5-bind
|
274 |
487 |
4.1e-21 |
PFAM |
|
Pfam:Rab5-bind
|
469 |
531 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133300
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146973
|
| SMART Domains |
Protein: ENSMUSP00000119018
Gene: ENSMUSG00000030730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_ATPase_C
|
6 |
132 |
6.3e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151304
|
| Meta Mutation Damage Score |
0.0877 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
| Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
| Batf2 |
G |
A |
19: 6,221,378 (GRCm39) |
E63K |
probably damaging |
Het |
| Chd1l |
A |
T |
3: 97,477,718 (GRCm39) |
M679K |
probably benign |
Het |
| Clvs2 |
G |
A |
10: 33,419,458 (GRCm39) |
H199Y |
probably damaging |
Het |
| F830045P16Rik |
A |
T |
2: 129,305,467 (GRCm39) |
N302K |
probably damaging |
Het |
| H2-K2 |
G |
A |
17: 34,218,525 (GRCm39) |
|
probably benign |
Het |
| Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
| Larp7 |
T |
C |
3: 127,334,519 (GRCm39) |
D490G |
probably benign |
Het |
| Map9 |
T |
C |
3: 82,266,390 (GRCm39) |
Y12H |
probably damaging |
Het |
| Mn1 |
G |
T |
5: 111,568,035 (GRCm39) |
E668D |
probably benign |
Het |
| Mrps18c |
T |
C |
5: 100,950,982 (GRCm39) |
|
probably benign |
Het |
| Npdc1 |
T |
A |
2: 25,298,992 (GRCm39) |
Y237* |
probably null |
Het |
| Oprm1 |
A |
G |
10: 6,782,520 (GRCm39) |
M388V |
probably benign |
Het |
| Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
| Or4n5 |
A |
G |
14: 50,132,464 (GRCm39) |
L265P |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Pkn2 |
T |
C |
3: 142,516,219 (GRCm39) |
D568G |
possibly damaging |
Het |
| Pwp1 |
A |
G |
10: 85,717,898 (GRCm39) |
T279A |
possibly damaging |
Het |
| Rbm34 |
T |
C |
8: 127,676,037 (GRCm39) |
K426R |
probably benign |
Het |
| Rgs14 |
T |
G |
13: 55,517,726 (GRCm39) |
L8V |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,880,521 (GRCm39) |
H407R |
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,456,928 (GRCm39) |
F603L |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,256,465 (GRCm39) |
S244P |
probably benign |
Het |
| St3gal3 |
T |
C |
4: 117,797,637 (GRCm39) |
I252V |
probably benign |
Het |
| Tars3 |
T |
A |
7: 65,327,876 (GRCm39) |
D528E |
probably damaging |
Het |
| Try10 |
A |
G |
6: 41,333,608 (GRCm39) |
T118A |
probably benign |
Het |
| Tshr |
C |
T |
12: 91,504,268 (GRCm39) |
S402L |
probably benign |
Het |
|
| Other mutations in Rabep2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02203:Rabep2
|
APN |
7 |
126,039,566 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0799:Rabep2
|
UTSW |
7 |
126,037,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1219:Rabep2
|
UTSW |
7 |
126,028,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Rabep2
|
UTSW |
7 |
126,043,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1735:Rabep2
|
UTSW |
7 |
126,043,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Rabep2
|
UTSW |
7 |
126,037,971 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1951:Rabep2
|
UTSW |
7 |
126,037,736 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2113:Rabep2
|
UTSW |
7 |
126,044,460 (GRCm39) |
splice site |
probably null |
|
|
R4357:Rabep2
|
UTSW |
7 |
126,047,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Rabep2
|
UTSW |
7 |
126,044,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5176:Rabep2
|
UTSW |
7 |
126,033,465 (GRCm39) |
intron |
probably benign |
|
|
R5512:Rabep2
|
UTSW |
7 |
126,037,971 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6729:Rabep2
|
UTSW |
7 |
126,039,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7055:Rabep2
|
UTSW |
7 |
126,044,485 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7288:Rabep2
|
UTSW |
7 |
126,043,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Rabep2
|
UTSW |
7 |
126,043,342 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7426:Rabep2
|
UTSW |
7 |
126,037,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7477:Rabep2
|
UTSW |
7 |
126,043,990 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7801:Rabep2
|
UTSW |
7 |
126,037,584 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7823:Rabep2
|
UTSW |
7 |
126,037,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Rabep2
|
UTSW |
7 |
126,039,580 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8265:Rabep2
|
UTSW |
7 |
126,043,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8476:Rabep2
|
UTSW |
7 |
126,034,915 (GRCm39) |
nonsense |
probably null |
|
|
R8679:Rabep2
|
UTSW |
7 |
126,034,848 (GRCm39) |
nonsense |
probably null |
|
|
R9022:Rabep2
|
UTSW |
7 |
126,043,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCCCATGTAAACACAGGTTG -3'
(R):5'- TGGGACCCTTTTCCAGGTATC -3'
Sequencing Primer
(F):5'- CCCCATGTAAACACAGGTTGATTCTG -3'
(R):5'- AGGTATCATCCCTGAGGGCAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation