Incidental Mutation 'IGL02203:Rabep2'
| ID |
284408 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rabep2
|
| Ensembl Gene |
ENSMUSG00000030727 |
| Gene Name |
rabaptin, RAB GTPase binding effector protein 2 |
| Synonyms |
2610011A08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
IGL02203
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126027596-126045079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 126039566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 331
(R331L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106405]
[ENSMUST00000106407]
[ENSMUST00000150530]
[ENSMUST00000150933]
|
| AlphaFold |
Q91WG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106405
AA Change: R288L
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102013
Gene: ENSMUSG00000030727
AA Change: R288L
| 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 |
possibly damaging
Transcript: ENSMUST00000106407
AA Change: R331L
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102015
Gene: ENSMUSG00000030727
AA Change: R331L
| 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: ENSMUST00000127154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141764
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148536
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150530
|
| SMART Domains |
Protein: ENSMUSP00000122141
Gene: ENSMUSG00000030727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
5 |
54 |
1.6e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151304
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150933
|
| SMART Domains |
Protein: ENSMUSP00000123559
Gene: ENSMUSG00000030727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
2 |
91 |
2e-37 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
C |
3: 121,973,457 (GRCm39) |
D1095A |
probably benign |
Het |
| Acmsd |
T |
C |
1: 127,666,342 (GRCm39) |
|
probably benign |
Het |
| Ap5m1 |
G |
A |
14: 49,317,715 (GRCm39) |
G324D |
probably damaging |
Het |
| Api5 |
T |
G |
2: 94,255,419 (GRCm39) |
N252T |
probably benign |
Het |
| Arhgap45 |
T |
A |
10: 79,863,387 (GRCm39) |
C743* |
probably null |
Het |
| Clpb |
A |
G |
7: 101,428,544 (GRCm39) |
T435A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,713,073 (GRCm39) |
|
probably null |
Het |
| Cyp3a11 |
T |
G |
5: 145,805,976 (GRCm39) |
R130S |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,721,173 (GRCm39) |
T612A |
probably benign |
Het |
| Dipk1a |
A |
G |
5: 108,059,647 (GRCm39) |
L57S |
probably benign |
Het |
| Eng |
A |
G |
2: 32,561,498 (GRCm39) |
I170V |
probably benign |
Het |
| Gfra2 |
T |
A |
14: 71,204,524 (GRCm39) |
M74K |
possibly damaging |
Het |
| Gpr137c |
A |
G |
14: 45,514,944 (GRCm39) |
T268A |
possibly damaging |
Het |
| Gramd2b |
T |
C |
18: 56,612,026 (GRCm39) |
|
probably null |
Het |
| Il13ra2 |
A |
G |
X: 146,166,669 (GRCm39) |
L367P |
possibly damaging |
Het |
| Insr |
T |
C |
8: 3,205,817 (GRCm39) |
H1324R |
probably benign |
Het |
| Lgi3 |
A |
G |
14: 70,771,958 (GRCm39) |
E215G |
possibly damaging |
Het |
| Mst1r |
A |
G |
9: 107,790,348 (GRCm39) |
T654A |
possibly damaging |
Het |
| Mst1r |
A |
G |
9: 107,785,068 (GRCm39) |
Y242C |
probably damaging |
Het |
| Myo16 |
A |
T |
8: 10,620,132 (GRCm39) |
Q1561L |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,973,134 (GRCm39) |
M2222R |
probably damaging |
Het |
| Or10ak13 |
A |
T |
4: 118,639,626 (GRCm39) |
V52D |
possibly damaging |
Het |
| Or13p10 |
A |
T |
4: 118,523,379 (GRCm39) |
I222F |
probably benign |
Het |
| Or2ag1 |
A |
G |
7: 106,313,837 (GRCm39) |
I17T |
probably benign |
Het |
| Or5ap2 |
T |
G |
2: 85,680,432 (GRCm39) |
F212C |
probably damaging |
Het |
| Or8b50 |
A |
G |
9: 38,518,719 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,606,160 (GRCm39) |
P1239L |
possibly damaging |
Het |
| Ptprm |
A |
T |
17: 67,260,118 (GRCm39) |
I499K |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sema7a |
A |
G |
9: 57,864,889 (GRCm39) |
T397A |
probably benign |
Het |
| Sftpc |
A |
C |
14: 70,759,309 (GRCm39) |
M124R |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,949,878 (GRCm39) |
Y198C |
probably damaging |
Het |
| Sppl2a |
A |
T |
2: 126,746,861 (GRCm39) |
M489K |
possibly damaging |
Het |
| Swt1 |
T |
A |
1: 151,246,377 (GRCm39) |
K849N |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,219,457 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,432 (GRCm39) |
V608A |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,619,369 (GRCm39) |
Y1349C |
probably damaging |
Het |
| Ybx3 |
A |
G |
6: 131,345,371 (GRCm39) |
V265A |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Rabep2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R4008:Rabep2
|
UTSW |
7 |
126,044,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation