Incidental Mutation 'R2939:Rph3a'
ID |
264565 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rph3a
|
Ensembl Gene |
ENSMUSG00000029608 |
Gene Name |
rabphilin 3A |
Synonyms |
Doc2 family, 2900002P20Rik |
MMRRC Submission |
040516-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2939 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
121078562-121148155 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 121118212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079204]
[ENSMUST00000200792]
[ENSMUST00000202326]
[ENSMUST00000202406]
|
AlphaFold |
P47708 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079204
|
SMART Domains |
Protein: ENSMUSP00000078198 Gene: ENSMUSG00000029608
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 benign
Transcript: ENSMUST00000200792
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202326
|
SMART Domains |
Protein: ENSMUSP00000144291 Gene: ENSMUSG00000029608
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 benign
Transcript: ENSMUST00000202406
|
SMART Domains |
Protein: ENSMUSP00000143917 Gene: ENSMUSG00000029608
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
98% (62/63) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl11 |
T |
C |
9: 107,808,409 (GRCm39) |
Y911H |
possibly damaging |
Het |
Arhgef26 |
A |
C |
3: 62,288,331 (GRCm39) |
K467T |
possibly damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,625 (GRCm39) |
W69R |
probably damaging |
Het |
Asl |
T |
C |
5: 130,042,245 (GRCm39) |
Y277C |
probably damaging |
Het |
Atm |
T |
C |
9: 53,406,011 (GRCm39) |
Y1219C |
probably damaging |
Het |
Azin2 |
C |
T |
4: 128,828,397 (GRCm39) |
C270Y |
probably benign |
Het |
Brsk1 |
A |
T |
7: 4,711,139 (GRCm39) |
I545F |
possibly damaging |
Het |
Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
Cfap410 |
A |
G |
10: 77,817,507 (GRCm39) |
N78S |
probably benign |
Het |
Cfap69 |
G |
A |
5: 5,694,432 (GRCm39) |
A143V |
probably damaging |
Het |
Cldn14 |
T |
C |
16: 93,716,192 (GRCm39) |
K218R |
probably damaging |
Het |
Col5a3 |
T |
C |
9: 20,706,954 (GRCm39) |
K714R |
unknown |
Het |
Crybg2 |
A |
G |
4: 133,809,745 (GRCm39) |
H1517R |
possibly damaging |
Het |
Dagla |
A |
C |
19: 10,233,728 (GRCm39) |
F382C |
probably damaging |
Het |
Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
Eif5 |
T |
C |
12: 111,506,713 (GRCm39) |
C102R |
probably damaging |
Het |
Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
Fhdc1 |
A |
G |
3: 84,364,577 (GRCm39) |
V223A |
possibly damaging |
Het |
Garin4 |
T |
C |
1: 190,896,103 (GRCm39) |
D180G |
possibly damaging |
Het |
Gpatch8 |
A |
G |
11: 102,399,010 (GRCm39) |
V74A |
unknown |
Het |
Haghl |
A |
G |
17: 26,004,060 (GRCm39) |
V8A |
possibly damaging |
Het |
Ksr1 |
A |
G |
11: 78,936,007 (GRCm39) |
|
probably null |
Het |
Lama5 |
A |
C |
2: 179,840,747 (GRCm39) |
Y584D |
probably damaging |
Het |
Lgi4 |
C |
T |
7: 30,767,253 (GRCm39) |
R427* |
probably null |
Het |
Lrriq1 |
T |
A |
10: 102,980,750 (GRCm39) |
S1462C |
probably damaging |
Het |
Map3k4 |
C |
T |
17: 12,480,157 (GRCm39) |
E682K |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nherf1 |
C |
T |
11: 115,071,270 (GRCm39) |
R335C |
probably damaging |
Het |
Nmnat2 |
C |
A |
1: 152,950,474 (GRCm39) |
S53Y |
probably damaging |
Het |
Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
Pcsk7 |
C |
T |
9: 45,827,322 (GRCm39) |
A363V |
probably damaging |
Het |
Pdrg1 |
C |
T |
2: 152,854,355 (GRCm39) |
G62R |
probably damaging |
Het |
Pdzd7 |
A |
G |
19: 45,033,862 (GRCm39) |
I74T |
possibly damaging |
Het |
Plcb4 |
T |
C |
2: 135,781,123 (GRCm39) |
|
probably benign |
Het |
Pramel28 |
A |
G |
4: 143,693,247 (GRCm39) |
V77A |
probably benign |
Het |
Rnf25 |
A |
G |
1: 74,635,047 (GRCm39) |
V135A |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
Slc1a6 |
G |
T |
10: 78,650,448 (GRCm39) |
*562L |
probably null |
Het |
Slc26a6 |
G |
A |
9: 108,734,236 (GRCm39) |
V206I |
probably benign |
Het |
Slc45a3 |
A |
G |
1: 131,905,637 (GRCm39) |
E206G |
probably damaging |
Het |
Smc1a |
T |
A |
X: 150,816,695 (GRCm39) |
Y516N |
probably damaging |
Het |
Smpd3 |
A |
G |
8: 106,984,039 (GRCm39) |
V560A |
probably benign |
Het |
Spata31g1 |
A |
G |
4: 42,972,946 (GRCm39) |
K760E |
probably benign |
Het |
Ssc4d |
T |
C |
5: 135,994,578 (GRCm39) |
T51A |
possibly damaging |
Het |
Suco |
A |
G |
1: 161,676,220 (GRCm39) |
I386T |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
Tmprss11e |
G |
A |
5: 86,869,266 (GRCm39) |
R96W |
probably damaging |
Het |
Trim63 |
T |
C |
4: 134,050,308 (GRCm39) |
|
probably benign |
Het |
Trpv1 |
A |
G |
11: 73,145,675 (GRCm39) |
K403R |
probably damaging |
Het |
Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
Unc79 |
C |
T |
12: 102,957,684 (GRCm39) |
T33I |
probably damaging |
Het |
Usp47 |
G |
A |
7: 111,681,743 (GRCm39) |
S518N |
probably damaging |
Het |
Vmn2r22 |
T |
A |
6: 123,614,594 (GRCm39) |
D332V |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,385,832 (GRCm39) |
L716P |
probably damaging |
Het |
Zfp558 |
T |
C |
9: 18,367,924 (GRCm39) |
N288S |
possibly damaging |
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 |
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'- TTGCCTCAGAAGCACATCC -3'
(R):5'- CTGAACGATGTGGGTGTGAC -3'
Sequencing Primer
(F):5'- AGAAGCACATCCCATCTTCTTC -3'
(R):5'- ATATGCATGTATGAGTGGAGTACCC -3'
|
Posted On |
2015-02-05 |