Incidental Mutation 'R4949:Rph3a'
| ID |
383661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rph3a
|
| Ensembl Gene |
ENSMUSG00000029608 |
| Gene Name |
rabphilin 3A |
| Synonyms |
Doc2 family, 2900002P20Rik |
| MMRRC Submission |
042546-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4949 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121078562-121148155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121101897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 113
(D113G)
|
| 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: D113G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608
AA Change: D113G
| 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: D113G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608
AA Change: D113G
| 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: D113G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608
AA Change: D113G
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.3%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,450 (GRCm39) |
V692A |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,864,191 (GRCm39) |
G382W |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,557 (GRCm39) |
N353I |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,113,408 (GRCm39) |
S170P |
possibly damaging |
Het |
| Clp1 |
A |
C |
2: 84,554,086 (GRCm39) |
M361R |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,229,804 (GRCm39) |
K382R |
unknown |
Het |
| Dsg2 |
T |
A |
18: 20,723,241 (GRCm39) |
D422E |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Gm14295 |
A |
C |
2: 176,501,469 (GRCm39) |
T320P |
probably damaging |
Het |
| Ido2 |
T |
G |
8: 25,023,970 (GRCm39) |
|
probably null |
Het |
| Ift140 |
T |
A |
17: 25,313,639 (GRCm39) |
S1357T |
probably benign |
Het |
| Insr |
T |
G |
8: 3,235,059 (GRCm39) |
E145A |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,327 (GRCm39) |
M265T |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,947,521 (GRCm39) |
N442K |
probably damaging |
Het |
| Kifc5b |
C |
A |
17: 27,144,488 (GRCm39) |
R536S |
probably damaging |
Het |
| Klf6 |
A |
T |
13: 5,914,947 (GRCm39) |
S129C |
probably benign |
Het |
| Lpin2 |
C |
G |
17: 71,538,334 (GRCm39) |
P327A |
probably damaging |
Het |
| Lsm1 |
T |
C |
8: 26,292,065 (GRCm39) |
V114A |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,128,846 (GRCm39) |
W218* |
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,979,142 (GRCm39) |
|
probably null |
Het |
| Nt5el |
T |
A |
13: 105,246,214 (GRCm39) |
S258R |
probably damaging |
Het |
| Rheb |
A |
T |
5: 25,008,729 (GRCm39) |
I163K |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,663 (GRCm39) |
N1381D |
probably damaging |
Het |
| Sdsl |
T |
A |
5: 120,597,870 (GRCm39) |
N208Y |
possibly damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,591 (GRCm39) |
N8S |
possibly damaging |
Het |
| Sox18 |
G |
A |
2: 181,313,017 (GRCm39) |
Q100* |
probably null |
Het |
| Taar8b |
C |
T |
10: 23,967,825 (GRCm39) |
C123Y |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,100,359 (GRCm39) |
H331N |
probably benign |
Het |
| Tmbim1 |
T |
G |
1: 74,334,524 (GRCm39) |
D12A |
probably damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,086,841 (GRCm39) |
I307V |
possibly damaging |
Het |
| Ttll1 |
A |
T |
15: 83,386,374 (GRCm39) |
M77K |
probably null |
Het |
| Ttpal |
G |
A |
2: 163,455,671 (GRCm39) |
R220Q |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,625 (GRCm39) |
H271Q |
probably benign |
Het |
| Vmn2r32 |
A |
G |
7: 7,467,083 (GRCm39) |
I815T |
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 |
|
|
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 |
|
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'- TGGGAGACTGAGCATCCTACAC -3'
(R):5'- AGTCTCAAGAATGGAGACTCGG -3'
Sequencing Primer
(F):5'- GGAGACTGAGCATCCTACACAATTC -3'
(R):5'- CTCTCTGCATGGGATACACTGGAG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation