Incidental Mutation 'R2865:Rph3a'
| ID |
253150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rph3a
|
| Ensembl Gene |
ENSMUSG00000029608 |
| Gene Name |
rabphilin 3A |
| Synonyms |
Doc2 family, 2900002P20Rik |
| MMRRC Submission |
040454-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2865 (G1)
|
| Quality Score |
162 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121078562-121148155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121085990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 482
(G482D)
|
| 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: G482D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608
AA Change: G482D
| 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: G482D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608
AA Change: G482D
| 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: G482D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608
AA Change: G482D
| 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 |
|
| Meta Mutation Damage Score |
0.8265 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (30/30) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
G |
8: 12,329,635 (GRCm39) |
Q30R |
unknown |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Cic |
T |
A |
7: 24,972,646 (GRCm39) |
D792E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,537,343 (GRCm39) |
C192Y |
probably benign |
Het |
| Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,059,543 (GRCm39) |
K714R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,531,431 (GRCm39) |
Q844R |
possibly damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,170,117 (GRCm39) |
K495E |
probably benign |
Het |
| Gria2 |
C |
T |
3: 80,639,392 (GRCm39) |
V207I |
probably benign |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,905,611 (GRCm39) |
H2240R |
probably damaging |
Het |
| Ighv8-9 |
G |
A |
12: 115,432,066 (GRCm39) |
P82S |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,310,525 (GRCm39) |
V436A |
probably benign |
Het |
| Ldb3 |
T |
G |
14: 34,251,460 (GRCm39) |
D609A |
probably damaging |
Het |
| Lgalsl2 |
G |
T |
7: 5,362,668 (GRCm39) |
D100Y |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,335 (GRCm39) |
Q112K |
probably damaging |
Het |
| Marchf4 |
C |
T |
1: 72,491,734 (GRCm39) |
R179H |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,960,788 (GRCm39) |
T75A |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,198 (GRCm39) |
D34V |
probably benign |
Het |
| Or8h10 |
A |
T |
2: 86,808,805 (GRCm39) |
C112S |
possibly damaging |
Het |
| Parp4 |
C |
T |
14: 56,851,181 (GRCm39) |
T728M |
probably damaging |
Het |
| Ppp1r10 |
A |
G |
17: 36,239,384 (GRCm39) |
T398A |
possibly damaging |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,991,765 (GRCm39) |
F388I |
probably benign |
Het |
| Slc12a6 |
G |
A |
2: 112,177,662 (GRCm39) |
V594I |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,836,942 (GRCm39) |
S134F |
probably damaging |
Het |
| Tead4 |
A |
T |
6: 128,225,062 (GRCm39) |
|
probably null |
Het |
| Usp40 |
G |
A |
1: 87,877,701 (GRCm39) |
Q1152* |
probably null |
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 |
|
IGL02383:Rph3a
|
APN |
5 |
121,102,002 (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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAGTCACTGTCCTGACCAGC -3'
(R):5'- CAGGCTGTGAACTGAGTCAC -3'
Sequencing Primer
(F):5'- TGACCAGCTGGACTCAGTGAG -3'
(R):5'- AGGCTGTGAACTGAGTCACTTACC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation