Incidental Mutation 'IGL02825:Rph3a'
| ID |
361170 |
| 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 # |
IGL02825
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121078562-121148155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121083509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 587
(K587R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079204]
[ENSMUST00000202326]
[ENSMUST00000202406]
|
| AlphaFold |
P47708 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079204
AA Change: K587R
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608
AA Change: K587R
| 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 |
possibly damaging
Transcript: ENSMUST00000202326
AA Change: K587R
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608
AA Change: K587R
| 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 |
possibly damaging
Transcript: ENSMUST00000202406
AA Change: K587R
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608
AA Change: K587R
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
A |
G |
2: 26,733,710 (GRCm39) |
V163A |
possibly damaging |
Het |
| Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
| B3gnt4 |
T |
C |
5: 123,649,114 (GRCm39) |
F160L |
possibly damaging |
Het |
| Brd3 |
T |
C |
2: 27,339,275 (GRCm39) |
E685G |
probably damaging |
Het |
| Cacna2d2 |
C |
T |
9: 107,401,659 (GRCm39) |
R746C |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chl1 |
T |
A |
6: 103,645,764 (GRCm39) |
V268E |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,303,889 (GRCm39) |
I392F |
probably damaging |
Het |
| Dnai1 |
T |
C |
4: 41,625,101 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 6,955,901 (GRCm39) |
|
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,617,243 (GRCm39) |
S1021P |
probably damaging |
Het |
| Exoc7 |
A |
C |
11: 116,188,411 (GRCm39) |
L296R |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 92,015,068 (GRCm39) |
|
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,862,125 (GRCm39) |
M232K |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,750,494 (GRCm39) |
S888T |
probably benign |
Het |
| Kirrel1 |
A |
T |
3: 86,996,595 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,378,474 (GRCm39) |
R4037Q |
probably damaging |
Het |
| Lrrc37 |
G |
A |
11: 103,507,894 (GRCm39) |
|
probably benign |
Het |
| Lrrn3 |
A |
T |
12: 41,502,592 (GRCm39) |
V575D |
probably damaging |
Het |
| Mapk11 |
A |
G |
15: 89,030,585 (GRCm39) |
Y103H |
probably damaging |
Het |
| Mrpl19 |
G |
T |
6: 81,942,796 (GRCm39) |
T38K |
probably benign |
Het |
| Nefl |
A |
T |
14: 68,321,795 (GRCm39) |
K128N |
possibly damaging |
Het |
| Olfm1 |
A |
G |
2: 28,119,090 (GRCm39) |
N242D |
probably damaging |
Het |
| Oprd1 |
T |
A |
4: 131,844,670 (GRCm39) |
T113S |
probably damaging |
Het |
| Or10d1 |
A |
T |
9: 39,483,877 (GRCm39) |
I226N |
probably damaging |
Het |
| Or52s19 |
T |
C |
7: 103,007,568 (GRCm39) |
I278V |
probably benign |
Het |
| Pds5b |
C |
T |
5: 150,652,435 (GRCm39) |
T234I |
possibly damaging |
Het |
| Prpf3 |
A |
T |
3: 95,760,792 (GRCm39) |
C37S |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 92,031,433 (GRCm39) |
T148M |
possibly damaging |
Het |
| Scn3b |
T |
C |
9: 40,188,441 (GRCm39) |
C5R |
probably damaging |
Het |
| Sirpa |
C |
T |
2: 129,457,372 (GRCm39) |
P149S |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,864,343 (GRCm39) |
C486S |
probably damaging |
Het |
| Spin1 |
C |
A |
13: 51,277,332 (GRCm39) |
|
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,644 (GRCm39) |
V126F |
probably damaging |
Het |
| Tom1 |
A |
G |
8: 75,783,883 (GRCm39) |
D64G |
probably damaging |
Het |
| Trbv4 |
T |
A |
6: 41,036,613 (GRCm39) |
L46Q |
probably damaging |
Het |
| Trhr |
A |
T |
15: 44,092,921 (GRCm39) |
D386V |
possibly damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,132 (GRCm39) |
I306N |
probably benign |
Het |
| Vmn2r51 |
C |
T |
7: 9,832,046 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,274 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
T |
C |
12: 40,367,175 (GRCm39) |
K494E |
probably benign |
Het |
| Zranb3 |
A |
T |
1: 127,887,489 (GRCm39) |
S979R |
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 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation