Incidental Mutation 'R5568:Rapgef2'
| ID |
436994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rapgef2
|
| Ensembl Gene |
ENSMUSG00000062232 |
| Gene Name |
Rap guanine nucleotide exchange factor (GEF) 2 |
| Synonyms |
CNRasGEF, nRapGEP, 5830453M24Rik, RA-GEF-1, Pdzgef1 |
| MMRRC Submission |
043125-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
78969823-79193824 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79011308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 259
(L259P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118100]
[ENSMUST00000118340]
[ENSMUST00000195708]
|
| AlphaFold |
Q8CHG7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118100
AA Change: L111P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114119
Gene: ENSMUSG00000062232
AA Change: L111P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
95 |
N/A |
INTRINSIC |
|
cNMP
|
135 |
253 |
2.48e-15 |
SMART |
|
RasGEFN
|
267 |
380 |
1.3e-31 |
SMART |
|
PDZ
|
395 |
467 |
1.28e-12 |
SMART |
|
RA
|
606 |
692 |
7.59e-23 |
SMART |
|
RasGEF
|
713 |
950 |
6.09e-100 |
SMART |
|
low complexity region
|
1030 |
1046 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1124 |
N/A |
INTRINSIC |
|
low complexity region
|
1140 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1392 |
1405 |
N/A |
INTRINSIC |
|
low complexity region
|
1440 |
1455 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118340
AA Change: L109P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113778
Gene: ENSMUSG00000062232
AA Change: L109P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
cNMP
|
133 |
251 |
2.48e-15 |
SMART |
|
RasGEFN
|
265 |
378 |
1.3e-31 |
SMART |
|
PDZ
|
393 |
465 |
1.28e-12 |
SMART |
|
RA
|
604 |
690 |
7.59e-23 |
SMART |
|
RasGEF
|
711 |
948 |
6.09e-100 |
SMART |
|
low complexity region
|
1028 |
1044 |
N/A |
INTRINSIC |
|
low complexity region
|
1108 |
1122 |
N/A |
INTRINSIC |
|
low complexity region
|
1138 |
1159 |
N/A |
INTRINSIC |
|
low complexity region
|
1390 |
1403 |
N/A |
INTRINSIC |
|
low complexity region
|
1438 |
1453 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195708
AA Change: L259P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141542
Gene: ENSMUSG00000062232
AA Change: L259P
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
24 |
131 |
3.9e-4 |
SMART |
|
low complexity region
|
186 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
243 |
N/A |
INTRINSIC |
|
cNMP
|
283 |
401 |
1.2e-17 |
SMART |
|
RasGEFN
|
415 |
528 |
6.4e-34 |
SMART |
|
PDZ
|
543 |
615 |
6.4e-15 |
SMART |
|
RA
|
754 |
840 |
4.8e-25 |
SMART |
|
RasGEF
|
861 |
1098 |
3.8e-102 |
SMART |
|
low complexity region
|
1178 |
1194 |
N/A |
INTRINSIC |
|
low complexity region
|
1258 |
1272 |
N/A |
INTRINSIC |
|
low complexity region
|
1288 |
1309 |
N/A |
INTRINSIC |
|
low complexity region
|
1540 |
1553 |
N/A |
INTRINSIC |
|
low complexity region
|
1588 |
1603 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for a null allele die at mid-gestation exhibiting growth arrest and defects in vascular development, neural tube closure and embryo turning. Homozygotes for another null allele show yolk sac vascular defects, impaired cell physiology and heart, primitive gut, liver and brain formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
C |
4: 144,349,364 (GRCm39) |
V207A |
probably benign |
Het |
| Abcc10 |
C |
A |
17: 46,614,834 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
A |
C |
6: 142,634,742 (GRCm39) |
V174G |
possibly damaging |
Het |
| Abl1 |
C |
T |
2: 31,669,086 (GRCm39) |
A155V |
probably damaging |
Het |
| Aco2 |
T |
A |
15: 81,787,787 (GRCm39) |
D212E |
probably damaging |
Het |
| Adam26b |
A |
T |
8: 43,973,529 (GRCm39) |
M491K |
probably benign |
Het |
| Anapc5 |
G |
A |
5: 122,929,988 (GRCm39) |
|
probably benign |
Het |
| Atf7 |
A |
G |
15: 102,471,757 (GRCm39) |
I46T |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,497,612 (GRCm39) |
S2100P |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 97,775,137 (GRCm39) |
D501V |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,866,433 (GRCm39) |
M748V |
probably damaging |
Het |
| Cd300c2 |
T |
C |
11: 114,891,662 (GRCm39) |
T71A |
probably damaging |
Het |
| Chmp2a |
T |
C |
7: 12,767,758 (GRCm39) |
M56V |
probably benign |
Het |
| Cilp |
A |
C |
9: 65,187,515 (GRCm39) |
R1203S |
probably benign |
Het |
| Clp1 |
T |
A |
2: 84,556,322 (GRCm39) |
K53* |
probably null |
Het |
| Crhbp |
T |
A |
13: 95,578,737 (GRCm39) |
D128V |
probably damaging |
Het |
| Crispld1 |
T |
A |
1: 17,820,495 (GRCm39) |
I292N |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,677,526 (GRCm39) |
I488N |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,456 (GRCm39) |
M149L |
probably benign |
Het |
| Ddx24 |
T |
A |
12: 103,390,547 (GRCm39) |
Q59L |
possibly damaging |
Het |
| Ddx27 |
A |
G |
2: 166,871,439 (GRCm39) |
H512R |
possibly damaging |
Het |
| Dlgap4 |
T |
A |
2: 156,604,821 (GRCm39) |
*993K |
probably null |
Het |
| Dmxl2 |
A |
T |
9: 54,330,643 (GRCm39) |
|
probably null |
Het |
| Dus4l |
A |
T |
12: 31,696,712 (GRCm39) |
F88L |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,904,071 (GRCm39) |
V176E |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,288,219 (GRCm39) |
K435* |
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,816,908 (GRCm39) |
C4214R |
probably benign |
Het |
| Garin5a |
T |
G |
7: 44,150,428 (GRCm39) |
S207A |
probably damaging |
Het |
| Gfral |
T |
C |
9: 76,072,087 (GRCm39) |
*394W |
probably null |
Het |
| Glis1 |
T |
C |
4: 107,476,832 (GRCm39) |
S518P |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,430,079 (GRCm39) |
|
probably null |
Het |
| Hsbp1l1 |
T |
C |
18: 80,278,679 (GRCm39) |
T35A |
possibly damaging |
Het |
| Ighv5-12 |
A |
G |
12: 113,665,837 (GRCm39) |
F87S |
probably damaging |
Het |
| Ints13 |
A |
C |
6: 146,477,855 (GRCm39) |
D31E |
probably damaging |
Het |
| Kbtbd12 |
C |
T |
6: 88,595,609 (GRCm39) |
D74N |
probably damaging |
Het |
| Klrb1c |
A |
G |
6: 128,765,877 (GRCm39) |
|
probably benign |
Het |
| Kmt5b |
A |
T |
19: 3,836,538 (GRCm39) |
H25L |
probably benign |
Het |
| Krt28 |
A |
T |
11: 99,262,210 (GRCm39) |
M260K |
probably damaging |
Het |
| Krt79 |
A |
G |
15: 101,838,220 (GRCm39) |
S512P |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,075,293 (GRCm39) |
|
probably null |
Het |
| Maneal |
T |
C |
4: 124,750,937 (GRCm39) |
E273G |
possibly damaging |
Het |
| Map4k3 |
T |
A |
17: 80,971,427 (GRCm39) |
Y80F |
possibly damaging |
Het |
| Mbd6 |
A |
G |
10: 127,119,297 (GRCm39) |
V946A |
possibly damaging |
Het |
| Mfsd14b |
A |
T |
13: 65,219,936 (GRCm39) |
|
probably null |
Het |
| Mrpl46 |
C |
G |
7: 78,430,242 (GRCm39) |
W176S |
probably damaging |
Het |
| Muc19 |
A |
G |
15: 91,768,468 (GRCm39) |
|
noncoding transcript |
Het |
| Mup3 |
T |
G |
4: 62,002,809 (GRCm39) |
E184A |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,781,911 (GRCm39) |
H1699R |
probably benign |
Het |
| Ndrg2 |
T |
A |
14: 52,144,420 (GRCm39) |
T269S |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,693,037 (GRCm39) |
V688D |
probably benign |
Het |
| Ninj2 |
T |
C |
6: 120,175,670 (GRCm39) |
I101T |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,523,468 (GRCm39) |
M671L |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,224,510 (GRCm39) |
L296I |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,983 (GRCm39) |
L28P |
probably benign |
Het |
| Or52r1b |
G |
T |
7: 102,691,517 (GRCm39) |
R272L |
possibly damaging |
Het |
| Pacsin1 |
T |
A |
17: 27,927,022 (GRCm39) |
D242E |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,330,420 (GRCm39) |
Y861C |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,153,443 (GRCm39) |
L54P |
probably damaging |
Het |
| Pcdhb18 |
T |
A |
18: 37,624,853 (GRCm39) |
S728T |
probably benign |
Het |
| Phyhd1 |
T |
A |
2: 30,167,022 (GRCm39) |
H108Q |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,212,513 (GRCm39) |
I1035F |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,735,309 (GRCm39) |
S217P |
possibly damaging |
Het |
| Plppr2 |
G |
A |
9: 21,852,425 (GRCm39) |
R103H |
probably damaging |
Het |
| Plxnb2 |
G |
A |
15: 89,041,638 (GRCm39) |
T1722I |
probably damaging |
Het |
| Pole3 |
T |
C |
4: 62,442,668 (GRCm39) |
N53S |
probably damaging |
Het |
| Ptk6 |
A |
T |
2: 180,841,488 (GRCm39) |
N140K |
possibly damaging |
Het |
| Rab12 |
C |
T |
17: 66,804,418 (GRCm39) |
R180H |
probably damaging |
Het |
| Rab36 |
G |
T |
10: 74,888,311 (GRCm39) |
V252L |
probably benign |
Het |
| Ranbp3 |
T |
C |
17: 57,008,543 (GRCm39) |
|
probably null |
Het |
| Rigi |
T |
A |
4: 40,222,140 (GRCm39) |
M380L |
probably benign |
Het |
| Scaf4 |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
16: 90,026,745 (GRCm39) |
|
probably benign |
Het |
| Scd2 |
T |
C |
19: 44,288,142 (GRCm39) |
F178S |
probably damaging |
Het |
| Shmt2 |
A |
G |
10: 127,356,250 (GRCm39) |
S87P |
probably damaging |
Het |
| Slf1 |
T |
A |
13: 77,194,823 (GRCm39) |
D834V |
probably damaging |
Het |
| Sorcs2 |
A |
C |
5: 36,203,874 (GRCm39) |
Y540* |
probably null |
Het |
| Srpk2 |
T |
A |
5: 23,730,697 (GRCm39) |
Q274L |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,031,901 (GRCm39) |
M271K |
possibly damaging |
Het |
| Tfec |
T |
A |
6: 16,867,592 (GRCm39) |
Q16L |
possibly damaging |
Het |
| Tfg |
T |
C |
16: 56,521,450 (GRCm39) |
T63A |
probably benign |
Het |
| Ticrr |
G |
A |
7: 79,339,715 (GRCm39) |
|
probably null |
Het |
| Ticrr |
T |
A |
7: 79,345,044 (GRCm39) |
C1636* |
probably null |
Het |
| Tln2 |
A |
G |
9: 67,219,147 (GRCm39) |
I266T |
probably damaging |
Het |
| Tmcc1 |
G |
C |
6: 115,999,071 (GRCm39) |
R323G |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,065,777 (GRCm39) |
E138G |
probably damaging |
Het |
| Tpm2 |
C |
A |
4: 43,522,692 (GRCm39) |
E75* |
probably null |
Het |
| Ttn |
T |
G |
2: 76,580,922 (GRCm39) |
T23324P |
probably damaging |
Het |
| Ubr4 |
T |
G |
4: 139,119,349 (GRCm39) |
L176R |
probably damaging |
Het |
| Uhrf2 |
G |
T |
19: 30,016,488 (GRCm39) |
D46Y |
probably damaging |
Het |
| Ulbp1 |
A |
C |
10: 7,423,281 (GRCm39) |
S21A |
unknown |
Het |
| Usp17lb |
C |
T |
7: 104,490,415 (GRCm39) |
G170R |
probably damaging |
Het |
| Utp15 |
T |
C |
13: 98,394,433 (GRCm39) |
N153S |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,836,790 (GRCm39) |
E2918V |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,919 (GRCm39) |
I195K |
probably damaging |
Het |
| Vmn1r76 |
C |
T |
7: 11,665,062 (GRCm39) |
V16I |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,250,880 (GRCm39) |
D24G |
possibly damaging |
Het |
| Xylb |
T |
A |
9: 119,190,198 (GRCm39) |
H68Q |
probably benign |
Het |
|
| Other mutations in Rapgef2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Rapgef2
|
APN |
3 |
78,999,332 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01024:Rapgef2
|
APN |
3 |
78,977,445 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01448:Rapgef2
|
APN |
3 |
79,011,269 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01448:Rapgef2
|
APN |
3 |
78,976,244 (GRCm39) |
missense |
probably benign |
|
|
IGL01928:Rapgef2
|
APN |
3 |
79,011,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01973:Rapgef2
|
APN |
3 |
78,999,116 (GRCm39) |
splice site |
probably null |
|
|
IGL02015:Rapgef2
|
APN |
3 |
78,999,371 (GRCm39) |
splice site |
probably benign |
|
|
IGL02498:Rapgef2
|
APN |
3 |
78,974,060 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02631:Rapgef2
|
APN |
3 |
78,990,533 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02835:Rapgef2
|
APN |
3 |
79,000,293 (GRCm39) |
splice site |
probably benign |
|
|
IGL02887:Rapgef2
|
APN |
3 |
78,976,187 (GRCm39) |
splice site |
probably benign |
|
|
IGL03030:Rapgef2
|
APN |
3 |
78,981,614 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03035:Rapgef2
|
APN |
3 |
79,001,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03222:Rapgef2
|
APN |
3 |
78,995,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03227:Rapgef2
|
APN |
3 |
78,999,920 (GRCm39) |
splice site |
probably benign |
|
|
IGL03326:Rapgef2
|
APN |
3 |
78,999,140 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03335:Rapgef2
|
APN |
3 |
79,006,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03384:Rapgef2
|
APN |
3 |
78,990,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bulge
|
UTSW |
3 |
78,986,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
Hai_phat
|
UTSW |
3 |
78,993,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Rapgef2
|
UTSW |
3 |
78,995,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Rapgef2
|
UTSW |
3 |
78,995,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Rapgef2
|
UTSW |
3 |
78,976,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0117:Rapgef2
|
UTSW |
3 |
78,986,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0225:Rapgef2
|
UTSW |
3 |
79,011,412 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0723:Rapgef2
|
UTSW |
3 |
78,986,481 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0788:Rapgef2
|
UTSW |
3 |
79,006,502 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1311:Rapgef2
|
UTSW |
3 |
78,990,854 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1374:Rapgef2
|
UTSW |
3 |
78,995,275 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1507:Rapgef2
|
UTSW |
3 |
78,988,600 (GRCm39) |
splice site |
probably benign |
|
|
R1523:Rapgef2
|
UTSW |
3 |
79,000,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Rapgef2
|
UTSW |
3 |
78,996,098 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1759:Rapgef2
|
UTSW |
3 |
78,974,038 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1766:Rapgef2
|
UTSW |
3 |
79,000,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2436:Rapgef2
|
UTSW |
3 |
78,996,079 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3033:Rapgef2
|
UTSW |
3 |
78,981,613 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3766:Rapgef2
|
UTSW |
3 |
78,996,057 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4118:Rapgef2
|
UTSW |
3 |
78,976,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4416:Rapgef2
|
UTSW |
3 |
78,976,364 (GRCm39) |
nonsense |
probably null |
|
|
R4722:Rapgef2
|
UTSW |
3 |
78,976,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4743:Rapgef2
|
UTSW |
3 |
79,080,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4780:Rapgef2
|
UTSW |
3 |
79,077,076 (GRCm39) |
splice site |
probably benign |
|
|
R4825:Rapgef2
|
UTSW |
3 |
78,990,534 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4861:Rapgef2
|
UTSW |
3 |
78,981,743 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4861:Rapgef2
|
UTSW |
3 |
78,981,743 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4900:Rapgef2
|
UTSW |
3 |
78,981,670 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4943:Rapgef2
|
UTSW |
3 |
78,971,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5291:Rapgef2
|
UTSW |
3 |
78,977,366 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5369:Rapgef2
|
UTSW |
3 |
78,976,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5413:Rapgef2
|
UTSW |
3 |
78,995,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5561:Rapgef2
|
UTSW |
3 |
78,995,950 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5642:Rapgef2
|
UTSW |
3 |
79,002,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5783:Rapgef2
|
UTSW |
3 |
78,995,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6041:Rapgef2
|
UTSW |
3 |
78,976,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6193:Rapgef2
|
UTSW |
3 |
78,976,751 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6324:Rapgef2
|
UTSW |
3 |
78,986,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6551:Rapgef2
|
UTSW |
3 |
79,122,342 (GRCm39) |
splice site |
probably null |
|
|
R6688:Rapgef2
|
UTSW |
3 |
78,976,435 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6908:Rapgef2
|
UTSW |
3 |
79,011,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6913:Rapgef2
|
UTSW |
3 |
78,993,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6933:Rapgef2
|
UTSW |
3 |
78,993,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Rapgef2
|
UTSW |
3 |
78,993,353 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7106:Rapgef2
|
UTSW |
3 |
78,973,915 (GRCm39) |
missense |
probably benign |
|
|
R7228:Rapgef2
|
UTSW |
3 |
78,976,525 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7242:Rapgef2
|
UTSW |
3 |
78,995,210 (GRCm39) |
nonsense |
probably null |
|
|
R7257:Rapgef2
|
UTSW |
3 |
78,989,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7322:Rapgef2
|
UTSW |
3 |
79,053,130 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R7443:Rapgef2
|
UTSW |
3 |
78,988,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Rapgef2
|
UTSW |
3 |
79,080,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7472:Rapgef2
|
UTSW |
3 |
78,976,580 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7884:Rapgef2
|
UTSW |
3 |
78,973,933 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7954:Rapgef2
|
UTSW |
3 |
78,977,454 (GRCm39) |
nonsense |
probably null |
|
|
R7957:Rapgef2
|
UTSW |
3 |
79,122,276 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8071:Rapgef2
|
UTSW |
3 |
79,000,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Rapgef2
|
UTSW |
3 |
78,993,325 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8268:Rapgef2
|
UTSW |
3 |
78,993,263 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8309:Rapgef2
|
UTSW |
3 |
78,990,509 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8505:Rapgef2
|
UTSW |
3 |
78,986,349 (GRCm39) |
nonsense |
probably null |
|
|
R8783:Rapgef2
|
UTSW |
3 |
79,005,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Rapgef2
|
UTSW |
3 |
79,019,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8965:Rapgef2
|
UTSW |
3 |
78,999,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Rapgef2
|
UTSW |
3 |
78,981,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9284:Rapgef2
|
UTSW |
3 |
79,000,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9371:Rapgef2
|
UTSW |
3 |
79,082,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Rapgef2
|
UTSW |
3 |
79,019,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9493:Rapgef2
|
UTSW |
3 |
79,019,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Rapgef2
|
UTSW |
3 |
79,019,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Rapgef2
|
UTSW |
3 |
78,974,093 (GRCm39) |
missense |
probably benign |
|
|
R9657:Rapgef2
|
UTSW |
3 |
78,999,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCACACGGAGCTGGAAGG -3'
(R):5'- TTGAGCACACCATAGGTTGACTG -3'
Sequencing Primer
(F):5'- AAGGGTTCTGCAGCCACTC -3'
(R):5'- ACACCATAGGTTGACTGTCTTCCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation