Incidental Mutation 'R4176:Rab3gap2'
| ID |
319494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab3gap2
|
| Ensembl Gene |
ENSMUSG00000039318 |
| Gene Name |
RAB3 GTPase activating protein subunit 2 |
| Synonyms |
1110059F07Rik |
| MMRRC Submission |
041014-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4176 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
184936314-185018956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 184978863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 280
(M280K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069652]
[ENSMUST00000194740]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069652
AA Change: M280K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066325
Gene: ENSMUSG00000039318
AA Change: M280K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
62 |
N/A |
INTRINSIC |
|
Pfam:RAB3GAP2_N
|
73 |
497 |
1.3e-167 |
PFAM |
|
low complexity region
|
667 |
686 |
N/A |
INTRINSIC |
|
Pfam:RAB3GAP2_C
|
767 |
1366 |
3.2e-245 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193245
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194740
AA Change: M280K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141608
Gene: ENSMUSG00000039318
AA Change: M280K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
62 |
N/A |
INTRINSIC |
|
Pfam:RAB3GAP2_N
|
73 |
497 |
1.3e-157 |
PFAM |
|
low complexity region
|
667 |
686 |
N/A |
INTRINSIC |
|
Pfam:RAB3GAP2_C
|
766 |
1346 |
2.5e-233 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196796
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| 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 belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,522,000 (GRCm39) |
E1274G |
possibly damaging |
Het |
| Abi3bp |
A |
G |
16: 56,472,563 (GRCm39) |
E424G |
probably damaging |
Het |
| Ankrd10 |
A |
G |
8: 11,662,644 (GRCm39) |
I363T |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,334,361 (GRCm39) |
N204K |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,463,098 (GRCm39) |
S954* |
probably null |
Het |
| Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
| Dagla |
G |
T |
19: 10,240,461 (GRCm39) |
D256E |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,713,720 (GRCm39) |
F230L |
probably benign |
Het |
| Elp5 |
T |
C |
11: 69,861,388 (GRCm39) |
Q197R |
probably null |
Het |
| Emilin2 |
A |
T |
17: 71,581,258 (GRCm39) |
D489E |
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,091,754 (GRCm39) |
V87A |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,623,365 (GRCm39) |
|
probably null |
Het |
| Fam149a |
A |
G |
8: 45,794,321 (GRCm39) |
Y614H |
probably benign |
Het |
| Fnbp1 |
T |
C |
2: 30,926,131 (GRCm39) |
|
probably null |
Het |
| Gabrb3 |
T |
C |
7: 57,241,061 (GRCm39) |
F13S |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,320,452 (GRCm39) |
A4499T |
probably benign |
Het |
| Islr2 |
A |
T |
9: 58,107,183 (GRCm39) |
C26S |
probably damaging |
Het |
| Jup |
T |
A |
11: 100,263,287 (GRCm39) |
D696V |
probably benign |
Het |
| Kcnq5 |
A |
C |
1: 21,605,392 (GRCm39) |
V171G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,914,680 (GRCm39) |
S667A |
possibly damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,418,755 (GRCm39) |
T293A |
possibly damaging |
Het |
| Lrp1b |
C |
A |
2: 41,298,405 (GRCm39) |
C138F |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,427,426 (GRCm39) |
H1388L |
unknown |
Het |
| Mctp2 |
A |
G |
7: 71,909,085 (GRCm39) |
I76T |
probably benign |
Het |
| Or2z8 |
A |
G |
8: 72,812,028 (GRCm39) |
Y168C |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,947 (GRCm39) |
D19G |
probably benign |
Het |
| Pbx1 |
A |
G |
1: 168,018,841 (GRCm39) |
|
probably null |
Het |
| Pelp1 |
A |
T |
11: 70,287,693 (GRCm39) |
W410R |
probably damaging |
Het |
| Phaf1 |
T |
C |
8: 105,967,763 (GRCm39) |
L218P |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,806,971 (GRCm39) |
L3482P |
probably benign |
Het |
| Plekhn1 |
C |
T |
4: 156,306,258 (GRCm39) |
G604E |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,793,561 (GRCm39) |
T571A |
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,760,828 (GRCm39) |
S252T |
probably damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,996,206 (GRCm39) |
M293V |
probably benign |
Het |
| Six4 |
G |
A |
12: 73,155,605 (GRCm39) |
T454I |
probably damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,866,973 (GRCm39) |
E585D |
probably benign |
Het |
| Slc34a2 |
T |
G |
5: 53,224,910 (GRCm39) |
C350W |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,394,586 (GRCm39) |
|
probably null |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Trpm7 |
T |
C |
2: 126,671,083 (GRCm39) |
K633R |
possibly damaging |
Het |
| Usp38 |
A |
C |
8: 81,719,928 (GRCm39) |
S434A |
probably benign |
Het |
| Zbtb16 |
A |
G |
9: 48,571,101 (GRCm39) |
F555S |
probably damaging |
Het |
| Zfp141 |
A |
T |
7: 42,125,705 (GRCm39) |
S256T |
probably benign |
Het |
|
| Other mutations in Rab3gap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Rab3gap2
|
APN |
1 |
184,971,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01620:Rab3gap2
|
APN |
1 |
184,936,523 (GRCm39) |
missense |
probably benign |
|
|
IGL01977:Rab3gap2
|
APN |
1 |
184,999,220 (GRCm39) |
nonsense |
probably null |
|
|
IGL02183:Rab3gap2
|
APN |
1 |
185,003,665 (GRCm39) |
nonsense |
probably null |
|
|
IGL02229:Rab3gap2
|
APN |
1 |
184,991,580 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02231:Rab3gap2
|
APN |
1 |
184,999,095 (GRCm39) |
splice site |
probably benign |
|
|
IGL02506:Rab3gap2
|
APN |
1 |
184,984,221 (GRCm39) |
splice site |
probably benign |
|
|
IGL02618:Rab3gap2
|
APN |
1 |
184,983,938 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02643:Rab3gap2
|
APN |
1 |
184,999,197 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03239:Rab3gap2
|
APN |
1 |
184,982,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4498001:Rab3gap2
|
UTSW |
1 |
185,013,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0173:Rab3gap2
|
UTSW |
1 |
184,982,104 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0372:Rab3gap2
|
UTSW |
1 |
184,994,891 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0492:Rab3gap2
|
UTSW |
1 |
184,984,589 (GRCm39) |
splice site |
probably benign |
|
|
R0510:Rab3gap2
|
UTSW |
1 |
184,992,705 (GRCm39) |
splice site |
probably benign |
|
|
R0708:Rab3gap2
|
UTSW |
1 |
184,982,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0711:Rab3gap2
|
UTSW |
1 |
184,982,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1135:Rab3gap2
|
UTSW |
1 |
185,008,140 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1428:Rab3gap2
|
UTSW |
1 |
184,980,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Rab3gap2
|
UTSW |
1 |
184,983,223 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1758:Rab3gap2
|
UTSW |
1 |
185,016,081 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1903:Rab3gap2
|
UTSW |
1 |
184,954,099 (GRCm39) |
missense |
probably benign |
|
|
R1929:Rab3gap2
|
UTSW |
1 |
185,015,739 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1994:Rab3gap2
|
UTSW |
1 |
184,968,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Rab3gap2
|
UTSW |
1 |
185,010,478 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2102:Rab3gap2
|
UTSW |
1 |
185,014,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2120:Rab3gap2
|
UTSW |
1 |
184,993,564 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2219:Rab3gap2
|
UTSW |
1 |
185,008,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2259:Rab3gap2
|
UTSW |
1 |
184,954,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2270:Rab3gap2
|
UTSW |
1 |
185,015,739 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2272:Rab3gap2
|
UTSW |
1 |
185,015,739 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3083:Rab3gap2
|
UTSW |
1 |
184,936,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3776:Rab3gap2
|
UTSW |
1 |
185,009,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4050:Rab3gap2
|
UTSW |
1 |
185,004,840 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4130:Rab3gap2
|
UTSW |
1 |
184,936,494 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4296:Rab3gap2
|
UTSW |
1 |
184,988,034 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4416:Rab3gap2
|
UTSW |
1 |
185,014,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4426:Rab3gap2
|
UTSW |
1 |
184,967,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4516:Rab3gap2
|
UTSW |
1 |
184,999,265 (GRCm39) |
missense |
probably benign |
|
|
R4518:Rab3gap2
|
UTSW |
1 |
184,999,265 (GRCm39) |
missense |
probably benign |
|
|
R4891:Rab3gap2
|
UTSW |
1 |
184,991,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4913:Rab3gap2
|
UTSW |
1 |
184,995,026 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4955:Rab3gap2
|
UTSW |
1 |
184,999,352 (GRCm39) |
intron |
probably benign |
|
|
R5411:Rab3gap2
|
UTSW |
1 |
185,009,342 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5516:Rab3gap2
|
UTSW |
1 |
184,967,684 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5670:Rab3gap2
|
UTSW |
1 |
185,009,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Rab3gap2
|
UTSW |
1 |
184,954,096 (GRCm39) |
missense |
probably benign |
|
|
R6380:Rab3gap2
|
UTSW |
1 |
184,968,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6533:Rab3gap2
|
UTSW |
1 |
184,965,151 (GRCm39) |
splice site |
probably null |
|
|
R6655:Rab3gap2
|
UTSW |
1 |
184,982,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6676:Rab3gap2
|
UTSW |
1 |
185,015,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6726:Rab3gap2
|
UTSW |
1 |
184,980,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6969:Rab3gap2
|
UTSW |
1 |
184,968,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Rab3gap2
|
UTSW |
1 |
184,980,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7168:Rab3gap2
|
UTSW |
1 |
184,936,494 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7196:Rab3gap2
|
UTSW |
1 |
185,013,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7201:Rab3gap2
|
UTSW |
1 |
184,999,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7371:Rab3gap2
|
UTSW |
1 |
184,983,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Rab3gap2
|
UTSW |
1 |
185,014,579 (GRCm39) |
missense |
probably benign |
|
|
R7779:Rab3gap2
|
UTSW |
1 |
184,991,641 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7913:Rab3gap2
|
UTSW |
1 |
184,995,013 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7922:Rab3gap2
|
UTSW |
1 |
184,982,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8115:Rab3gap2
|
UTSW |
1 |
184,999,447 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8203:Rab3gap2
|
UTSW |
1 |
184,999,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8242:Rab3gap2
|
UTSW |
1 |
184,954,050 (GRCm39) |
missense |
probably benign |
|
|
R8322:Rab3gap2
|
UTSW |
1 |
184,978,877 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8360:Rab3gap2
|
UTSW |
1 |
184,999,270 (GRCm39) |
intron |
probably benign |
|
|
R8515:Rab3gap2
|
UTSW |
1 |
184,995,017 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8678:Rab3gap2
|
UTSW |
1 |
184,983,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Rab3gap2
|
UTSW |
1 |
184,990,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9175:Rab3gap2
|
UTSW |
1 |
185,009,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Rab3gap2
|
UTSW |
1 |
184,983,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9312:Rab3gap2
|
UTSW |
1 |
185,015,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9443:Rab3gap2
|
UTSW |
1 |
184,967,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Rab3gap2
|
UTSW |
1 |
185,014,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9642:Rab3gap2
|
UTSW |
1 |
184,967,692 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1088:Rab3gap2
|
UTSW |
1 |
185,013,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTCTAACGTGGGTATTTGTAGC -3'
(R):5'- TTAGCTTCAGGTGAAACATGCAAC -3'
Sequencing Primer
(F):5'- GGGTATTTGTAGCTTGGCAAATTAC -3'
(R):5'- CATGCAACTTAATCTCTCTAAGGC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation