Incidental Mutation 'IGL02383:Rph3a'
ID |
291445 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rph3a
|
Ensembl Gene |
ENSMUSG00000029608 |
Gene Name |
rabphilin 3A |
Synonyms |
Doc2 family, 2900002P20Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02383
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
121078562-121148155 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 121102002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 78
(R78H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079204]
[ENSMUST00000202326]
[ENSMUST00000202406]
|
AlphaFold |
P47708 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079204
AA Change: R78H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078198 Gene: ENSMUSG00000029608 AA Change: R78H
Domain | Start | End | E-Value | Type |
Pfam:FYVE_2
|
44 |
158 |
1e-38 |
PFAM |
low complexity region
|
271 |
300 |
N/A |
INTRINSIC |
low complexity region
|
347 |
377 |
N/A |
INTRINSIC |
C2
|
395 |
500 |
2.93e-22 |
SMART |
C2
|
553 |
667 |
1.85e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202326
AA Change: R78H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144291 Gene: ENSMUSG00000029608 AA Change: R78H
Domain | Start | End | E-Value | Type |
Pfam:FYVE_2
|
44 |
158 |
1e-38 |
PFAM |
low complexity region
|
271 |
300 |
N/A |
INTRINSIC |
low complexity region
|
347 |
377 |
N/A |
INTRINSIC |
C2
|
395 |
500 |
2.93e-22 |
SMART |
C2
|
553 |
667 |
1.85e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202406
AA Change: R78H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143917 Gene: ENSMUSG00000029608 AA Change: R78H
Domain | Start | End | E-Value | Type |
Pfam:FYVE_2
|
44 |
158 |
1e-38 |
PFAM |
low complexity region
|
271 |
300 |
N/A |
INTRINSIC |
low complexity region
|
347 |
377 |
N/A |
INTRINSIC |
C2
|
395 |
500 |
2.93e-22 |
SMART |
C2
|
553 |
667 |
1.85e-19 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016] PHENOTYPE: Homozygous mutants are viable and fertile and do not exhibit any obvious abnormal phenotypes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
T |
C |
6: 133,269,205 (GRCm39) |
|
probably benign |
Het |
Adap2 |
C |
A |
11: 80,051,015 (GRCm39) |
A115D |
probably damaging |
Het |
Ankrd1 |
A |
G |
19: 36,097,165 (GRCm39) |
V6A |
probably benign |
Het |
Apobr |
T |
A |
7: 126,185,779 (GRCm39) |
V430E |
probably benign |
Het |
Arhgap28 |
A |
G |
17: 68,203,084 (GRCm39) |
V123A |
probably benign |
Het |
Atp2b2 |
A |
G |
6: 113,790,903 (GRCm39) |
V167A |
probably damaging |
Het |
B3galnt2 |
A |
T |
13: 14,171,618 (GRCm39) |
*505C |
probably null |
Het |
Bcat2 |
T |
A |
7: 45,237,431 (GRCm39) |
L305Q |
probably damaging |
Het |
Coa8 |
T |
A |
12: 111,690,847 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
T |
C |
1: 24,224,339 (GRCm39) |
S174P |
unknown |
Het |
Ddx41 |
A |
T |
13: 55,680,170 (GRCm39) |
D418E |
probably benign |
Het |
Defa40 |
A |
G |
8: 21,740,377 (GRCm39) |
D61G |
probably damaging |
Het |
Exoc6 |
T |
C |
19: 37,566,922 (GRCm39) |
F240L |
probably benign |
Het |
Fbln7 |
G |
A |
2: 128,737,477 (GRCm39) |
V431I |
probably benign |
Het |
Gfral |
T |
A |
9: 76,104,374 (GRCm39) |
N213Y |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,706,562 (GRCm39) |
D22G |
probably benign |
Het |
H2-M1 |
G |
A |
17: 36,981,141 (GRCm39) |
T298I |
unknown |
Het |
Haus3 |
A |
T |
5: 34,323,580 (GRCm39) |
Y343* |
probably null |
Het |
Hid1 |
T |
C |
11: 115,243,446 (GRCm39) |
E534G |
probably damaging |
Het |
Il4ra |
T |
C |
7: 125,170,676 (GRCm39) |
V196A |
probably benign |
Het |
Itm2b |
C |
A |
14: 73,600,536 (GRCm39) |
E255* |
probably null |
Het |
Kidins220 |
A |
T |
12: 25,047,332 (GRCm39) |
|
probably benign |
Het |
Klhl22 |
T |
A |
16: 17,594,762 (GRCm39) |
F297Y |
possibly damaging |
Het |
Krt9 |
T |
C |
11: 100,082,041 (GRCm39) |
E253G |
probably damaging |
Het |
Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
Map3k6 |
T |
A |
4: 132,973,932 (GRCm39) |
|
probably null |
Het |
Med29 |
C |
A |
7: 28,086,448 (GRCm39) |
R120L |
possibly damaging |
Het |
Napa |
C |
T |
7: 15,846,503 (GRCm39) |
|
probably benign |
Het |
Ncapd3 |
T |
A |
9: 26,961,624 (GRCm39) |
Y351N |
probably benign |
Het |
Nphs1 |
C |
T |
7: 30,181,060 (GRCm39) |
|
probably benign |
Het |
Or5b94 |
A |
G |
19: 12,651,899 (GRCm39) |
D110G |
probably benign |
Het |
Prss16 |
T |
C |
13: 22,193,697 (GRCm39) |
I33V |
probably benign |
Het |
Ripk1 |
A |
G |
13: 34,199,227 (GRCm39) |
Y193C |
probably damaging |
Het |
Rrp9 |
T |
A |
9: 106,362,471 (GRCm39) |
I452N |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,737,607 (GRCm39) |
|
probably benign |
Het |
Sec23a |
A |
G |
12: 59,048,813 (GRCm39) |
L103P |
probably damaging |
Het |
Slc17a9 |
A |
C |
2: 180,377,674 (GRCm39) |
D190A |
probably benign |
Het |
Slc44a4 |
G |
A |
17: 35,146,686 (GRCm39) |
V422I |
probably benign |
Het |
Smc5 |
C |
T |
19: 23,191,996 (GRCm39) |
|
probably benign |
Het |
Tax1bp1 |
C |
T |
6: 52,730,351 (GRCm39) |
S611F |
probably benign |
Het |
Tmem38b |
G |
A |
4: 53,854,345 (GRCm39) |
M192I |
probably benign |
Het |
Unc45a |
G |
T |
7: 79,989,410 (GRCm39) |
C34* |
probably null |
Het |
Usp46 |
T |
A |
5: 74,190,014 (GRCm39) |
M6L |
probably benign |
Het |
Uspl1 |
G |
A |
5: 149,150,212 (GRCm39) |
V471M |
probably damaging |
Het |
Vmn1r35 |
T |
A |
6: 66,655,875 (GRCm39) |
Q265L |
probably damaging |
Het |
Vmn1r35 |
G |
T |
6: 66,655,876 (GRCm39) |
Q265K |
probably damaging |
Het |
Vmn1r50 |
A |
G |
6: 90,084,461 (GRCm39) |
I69V |
possibly damaging |
Het |
Vps33b |
A |
G |
7: 79,935,082 (GRCm39) |
|
probably null |
Het |
Xntrpc |
A |
C |
7: 101,742,802 (GRCm39) |
D604A |
probably damaging |
Het |
Yeats4 |
T |
A |
10: 117,051,716 (GRCm39) |
R180S |
probably benign |
Het |
|
Other mutations in Rph3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02281:Rph3a
|
APN |
5 |
121,086,896 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02394:Rph3a
|
APN |
5 |
121,084,411 (GRCm39) |
splice site |
probably null |
|
IGL02429:Rph3a
|
APN |
5 |
121,118,187 (GRCm39) |
splice site |
probably null |
|
IGL02825:Rph3a
|
APN |
5 |
121,083,509 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0282:Rph3a
|
UTSW |
5 |
121,101,973 (GRCm39) |
nonsense |
probably null |
|
R0325:Rph3a
|
UTSW |
5 |
121,081,127 (GRCm39) |
missense |
probably benign |
0.22 |
R0402:Rph3a
|
UTSW |
5 |
121,080,317 (GRCm39) |
missense |
probably damaging |
0.99 |
R0648:Rph3a
|
UTSW |
5 |
121,097,333 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1807:Rph3a
|
UTSW |
5 |
121,083,456 (GRCm39) |
missense |
probably damaging |
0.99 |
R2273:Rph3a
|
UTSW |
5 |
121,111,367 (GRCm39) |
missense |
probably damaging |
0.98 |
R2519:Rph3a
|
UTSW |
5 |
121,092,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R2865:Rph3a
|
UTSW |
5 |
121,085,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R2939:Rph3a
|
UTSW |
5 |
121,118,212 (GRCm39) |
splice site |
probably benign |
|
R3153:Rph3a
|
UTSW |
5 |
121,111,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R4289:Rph3a
|
UTSW |
5 |
121,111,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Rph3a
|
UTSW |
5 |
121,092,551 (GRCm39) |
missense |
probably benign |
0.00 |
R4949:Rph3a
|
UTSW |
5 |
121,101,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Rph3a
|
UTSW |
5 |
121,101,906 (GRCm39) |
missense |
probably damaging |
0.96 |
R5008:Rph3a
|
UTSW |
5 |
121,083,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R5027:Rph3a
|
UTSW |
5 |
121,092,512 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5155:Rph3a
|
UTSW |
5 |
121,086,833 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5497:Rph3a
|
UTSW |
5 |
121,080,253 (GRCm39) |
missense |
probably benign |
0.28 |
R5931:Rph3a
|
UTSW |
5 |
121,101,936 (GRCm39) |
missense |
probably damaging |
0.99 |
R6273:Rph3a
|
UTSW |
5 |
121,083,485 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7630:Rph3a
|
UTSW |
5 |
121,081,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7664:Rph3a
|
UTSW |
5 |
121,099,339 (GRCm39) |
missense |
probably benign |
|
R8210:Rph3a
|
UTSW |
5 |
121,099,312 (GRCm39) |
missense |
probably benign |
0.00 |
R8294:Rph3a
|
UTSW |
5 |
121,099,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R8445:Rph3a
|
UTSW |
5 |
121,111,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R8693:Rph3a
|
UTSW |
5 |
121,100,501 (GRCm39) |
missense |
probably damaging |
0.99 |
R8758:Rph3a
|
UTSW |
5 |
121,097,365 (GRCm39) |
missense |
probably benign |
|
R9147:Rph3a
|
UTSW |
5 |
121,086,880 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9148:Rph3a
|
UTSW |
5 |
121,086,880 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9157:Rph3a
|
UTSW |
5 |
121,101,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R9212:Rph3a
|
UTSW |
5 |
121,086,005 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9520:Rph3a
|
UTSW |
5 |
121,101,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R9733:Rph3a
|
UTSW |
5 |
121,100,521 (GRCm39) |
missense |
probably benign |
0.08 |
RF017:Rph3a
|
UTSW |
5 |
121,100,562 (GRCm39) |
splice site |
probably null |
|
Z1177:Rph3a
|
UTSW |
5 |
121,099,338 (GRCm39) |
missense |
probably benign |
0.06 |
Z1177:Rph3a
|
UTSW |
5 |
121,080,329 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |