Incidental Mutation 'R5652:Rapgef3'
ID |
441522 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rapgef3
|
Ensembl Gene |
ENSMUSG00000022469 |
Gene Name |
Rap guanine nucleotide exchange factor (GEF) 3 |
Synonyms |
Epac1, 9330170P05Rik, 2310016P22Rik |
MMRRC Submission |
043298-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.268)
|
Stock # |
R5652 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97656318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 328
(S328P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134371]
[ENSMUST00000134885]
[ENSMUST00000177352]
[ENSMUST00000149419]
[ENSMUST00000175894]
[ENSMUST00000146620]
|
AlphaFold |
Q8VCC8 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123397
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126854
AA Change: S370P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000116426 Gene: ENSMUSG00000022469 AA Change: S370P
Domain | Start | End | E-Value | Type |
DEP
|
111 |
186 |
2.05e-25 |
SMART |
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
cNMP
|
245 |
364 |
2.53e-12 |
SMART |
RasGEFN
|
383 |
514 |
7.04e-10 |
SMART |
Blast:RasGEF
|
547 |
644 |
6e-45 |
BLAST |
RasGEF
|
661 |
926 |
7.98e-95 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128775
AA Change: S370P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000120126 Gene: ENSMUSG00000022469 AA Change: S370P
Domain | Start | End | E-Value | Type |
DEP
|
111 |
186 |
2.05e-25 |
SMART |
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
cNMP
|
245 |
364 |
2.53e-12 |
SMART |
RasGEFN
|
383 |
514 |
7.04e-10 |
SMART |
Blast:RasGEF
|
547 |
644 |
7e-45 |
BLAST |
RasGEF
|
661 |
909 |
5.53e-80 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129223
AA Change: S370P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000118148 Gene: ENSMUSG00000022469 AA Change: S370P
Domain | Start | End | E-Value | Type |
DEP
|
111 |
186 |
2.05e-25 |
SMART |
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
cNMP
|
245 |
364 |
2.53e-12 |
SMART |
RasGEFN
|
383 |
514 |
7.04e-10 |
SMART |
Blast:RasGEF
|
547 |
644 |
6e-45 |
BLAST |
RasGEF
|
661 |
918 |
2.11e-85 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134371
AA Change: S23P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122746 Gene: ENSMUSG00000022469 AA Change: S23P
Domain | Start | End | E-Value | Type |
Blast:cNMP
|
1 |
24 |
9e-8 |
BLAST |
PDB:3CF6|E
|
1 |
67 |
5e-12 |
PDB |
Blast:RasGEFN
|
36 |
67 |
2e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134885
|
SMART Domains |
Protein: ENSMUSP00000135317 Gene: ENSMUSG00000022469
Domain | Start | End | E-Value | Type |
RasGEF
|
1 |
216 |
2.91e-56 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142196
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177352
AA Change: S328P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000135238 Gene: ENSMUSG00000022469 AA Change: S328P
Domain | Start | End | E-Value | Type |
DEP
|
69 |
144 |
2.05e-25 |
SMART |
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
cNMP
|
203 |
322 |
2.53e-12 |
SMART |
RasGEFN
|
341 |
472 |
7.04e-10 |
SMART |
Blast:RasGEF
|
505 |
602 |
3e-45 |
BLAST |
RasGEF
|
619 |
884 |
7.98e-95 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149373
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153241
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146214
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149419
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146620
|
SMART Domains |
Protein: ENSMUSP00000116673 Gene: ENSMUSG00000022469
Domain | Start | End | E-Value | Type |
DEP
|
69 |
144 |
2.05e-25 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis. Mice homozygous for a different allele exhibit impaired glucose homeostasis with decreased insulin secretion, increased susceptibility to diet-induced obesity and streptozotocin-induced insulitis and hyperglycemia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
T |
C |
14: 118,856,339 (GRCm39) |
I334V |
probably benign |
Het |
Adamts5 |
C |
T |
16: 85,696,156 (GRCm39) |
A334T |
probably damaging |
Het |
Adcy4 |
G |
C |
14: 56,010,900 (GRCm39) |
F672L |
probably benign |
Het |
Adgrl1 |
A |
G |
8: 84,656,444 (GRCm39) |
Y254C |
probably damaging |
Het |
Adnp2 |
A |
G |
18: 80,174,065 (GRCm39) |
S115P |
probably damaging |
Het |
Aox1 |
A |
T |
1: 58,134,356 (GRCm39) |
S1110C |
probably damaging |
Het |
Arhgap44 |
G |
T |
11: 64,915,064 (GRCm39) |
N401K |
probably damaging |
Het |
Atp23 |
A |
T |
10: 126,735,494 (GRCm39) |
N63K |
possibly damaging |
Het |
Atp8b1 |
G |
C |
18: 64,664,453 (GRCm39) |
I1238M |
probably benign |
Het |
Ccdc38 |
A |
T |
10: 93,391,448 (GRCm39) |
|
probably null |
Het |
Celsr2 |
T |
C |
3: 108,304,051 (GRCm39) |
D2364G |
probably null |
Het |
Celsr3 |
G |
A |
9: 108,715,671 (GRCm39) |
D2116N |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,389,279 (GRCm39) |
S1518P |
probably damaging |
Het |
Clcn3 |
C |
A |
8: 61,372,387 (GRCm39) |
V758L |
possibly damaging |
Het |
Cmklr2 |
A |
G |
1: 63,222,626 (GRCm39) |
V203A |
probably benign |
Het |
Ctsf |
T |
C |
19: 4,908,505 (GRCm39) |
L288P |
probably damaging |
Het |
Cwh43 |
A |
G |
5: 73,575,484 (GRCm39) |
T334A |
probably damaging |
Het |
Cyp3a57 |
A |
T |
5: 145,286,135 (GRCm39) |
|
probably null |
Het |
Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,691,138 (GRCm39) |
I260T |
probably benign |
Het |
Dgkh |
T |
C |
14: 78,865,201 (GRCm39) |
H47R |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,632,422 (GRCm39) |
V4514I |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 7,116,638 (GRCm39) |
M66K |
probably benign |
Het |
Fam186a |
T |
G |
15: 99,843,253 (GRCm39) |
Y997S |
possibly damaging |
Het |
Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
Fat4 |
C |
T |
3: 39,057,117 (GRCm39) |
T4271I |
probably damaging |
Het |
Fdxacb1 |
T |
A |
9: 50,679,705 (GRCm39) |
L41Q |
probably damaging |
Het |
Fgfr2 |
C |
T |
7: 129,863,593 (GRCm39) |
V18M |
probably damaging |
Het |
Gpa33 |
A |
C |
1: 165,992,714 (GRCm39) |
|
probably null |
Het |
Gpr107 |
A |
G |
2: 31,075,601 (GRCm39) |
I371V |
probably benign |
Het |
H1f6 |
A |
G |
13: 23,880,219 (GRCm39) |
K124R |
probably benign |
Het |
Hectd2 |
T |
C |
19: 36,581,720 (GRCm39) |
V420A |
probably damaging |
Het |
Iglc3 |
A |
G |
16: 18,884,420 (GRCm39) |
|
probably benign |
Het |
Igtp |
A |
G |
11: 58,097,455 (GRCm39) |
T209A |
probably benign |
Het |
Itgb7 |
T |
A |
15: 102,124,638 (GRCm39) |
N793I |
possibly damaging |
Het |
Kansl1 |
G |
A |
11: 104,228,992 (GRCm39) |
R870C |
probably damaging |
Het |
Kcnh6 |
C |
T |
11: 105,899,811 (GRCm39) |
R27C |
probably damaging |
Het |
Kif2b |
T |
A |
11: 91,466,656 (GRCm39) |
E542D |
possibly damaging |
Het |
Klhl24 |
C |
A |
16: 19,938,997 (GRCm39) |
Y517* |
probably null |
Het |
Klhl25 |
A |
G |
7: 75,515,895 (GRCm39) |
D267G |
probably benign |
Het |
Krr1 |
C |
A |
10: 111,813,288 (GRCm39) |
F195L |
possibly damaging |
Het |
Lsr |
C |
T |
7: 30,658,456 (GRCm39) |
G95D |
probably damaging |
Het |
Matcap2 |
A |
G |
9: 22,335,786 (GRCm39) |
T135A |
probably benign |
Het |
Med15 |
A |
T |
16: 17,473,055 (GRCm39) |
I504N |
probably damaging |
Het |
Mug1 |
A |
G |
6: 121,817,140 (GRCm39) |
R70G |
probably benign |
Het |
Mypn |
T |
A |
10: 62,971,580 (GRCm39) |
Q820L |
probably damaging |
Het |
Nlrp4f |
A |
T |
13: 65,330,803 (GRCm39) |
H863Q |
probably benign |
Het |
Nudt9 |
G |
A |
5: 104,207,646 (GRCm39) |
V213M |
probably benign |
Het |
Or5ak4 |
T |
A |
2: 85,161,717 (GRCm39) |
N175I |
probably damaging |
Het |
Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
Or7g16 |
A |
G |
9: 18,726,922 (GRCm39) |
S223P |
probably damaging |
Het |
Or8c13 |
T |
C |
9: 38,092,111 (GRCm39) |
T3A |
probably benign |
Het |
Orc2 |
A |
G |
1: 58,505,231 (GRCm39) |
F475L |
probably damaging |
Het |
Oxa1l |
T |
A |
14: 54,604,289 (GRCm39) |
L183* |
probably null |
Het |
Pcdh20 |
T |
C |
14: 88,704,760 (GRCm39) |
T847A |
probably damaging |
Het |
Pcdha6 |
G |
A |
18: 37,101,889 (GRCm39) |
|
probably null |
Het |
Pip5k1a |
T |
C |
3: 94,974,750 (GRCm39) |
N376S |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,859,889 (GRCm39) |
E573G |
probably benign |
Het |
Pkp1 |
T |
A |
1: 135,810,335 (GRCm39) |
|
probably null |
Het |
Pum1 |
T |
C |
4: 130,491,438 (GRCm39) |
I643T |
possibly damaging |
Het |
Raver1 |
A |
G |
9: 21,001,608 (GRCm39) |
V75A |
probably damaging |
Het |
Rbm28 |
T |
C |
6: 29,135,408 (GRCm39) |
E511G |
probably damaging |
Het |
Satb1 |
T |
A |
17: 52,049,823 (GRCm39) |
T544S |
probably damaging |
Het |
Sdcbp2 |
T |
C |
2: 151,431,135 (GRCm39) |
V248A |
probably benign |
Het |
Sema7a |
A |
G |
9: 57,867,942 (GRCm39) |
D506G |
probably damaging |
Het |
Septin8 |
A |
G |
11: 53,428,044 (GRCm39) |
E286G |
probably damaging |
Het |
Sh3pxd2b |
A |
G |
11: 32,372,812 (GRCm39) |
I660V |
probably damaging |
Het |
Stk38l |
G |
T |
6: 146,674,826 (GRCm39) |
D364Y |
possibly damaging |
Het |
Sycp2 |
T |
C |
2: 178,000,498 (GRCm39) |
|
probably null |
Het |
Tbc1d31 |
T |
A |
15: 57,815,062 (GRCm39) |
S580T |
probably damaging |
Het |
Tcerg1l |
G |
A |
7: 137,881,775 (GRCm39) |
R305C |
probably damaging |
Het |
Tek |
T |
A |
4: 94,743,561 (GRCm39) |
Y859N |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,962,191 (GRCm39) |
|
probably null |
Het |
Tmem132d |
A |
T |
5: 127,861,859 (GRCm39) |
I754N |
possibly damaging |
Het |
Togaram1 |
G |
A |
12: 65,063,424 (GRCm39) |
V1580I |
probably benign |
Het |
Troap |
A |
G |
15: 98,980,145 (GRCm39) |
T442A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,712,097 (GRCm39) |
|
probably benign |
Het |
Twnk |
T |
A |
19: 44,995,732 (GRCm39) |
V55E |
possibly damaging |
Het |
Uggt1 |
A |
T |
1: 36,255,234 (GRCm39) |
Y225* |
probably null |
Het |
Vmn2r109 |
A |
G |
17: 20,760,781 (GRCm39) |
*859Q |
probably null |
Het |
Vmn2r17 |
A |
T |
5: 109,577,430 (GRCm39) |
I494L |
probably benign |
Het |
Vmn2r88 |
T |
C |
14: 51,656,029 (GRCm39) |
V746A |
probably damaging |
Het |
Yae1d1 |
A |
G |
13: 18,166,291 (GRCm39) |
L57P |
probably damaging |
Het |
Zfp26 |
G |
A |
9: 20,349,137 (GRCm39) |
R476* |
probably null |
Het |
Zmynd8 |
T |
A |
2: 165,649,618 (GRCm39) |
Q816L |
probably damaging |
Het |
Zswim8 |
A |
T |
14: 20,763,495 (GRCm39) |
H414L |
possibly damaging |
Het |
|
Other mutations in Rapgef3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01314:Rapgef3
|
APN |
15 |
97,646,104 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01339:Rapgef3
|
APN |
15 |
97,655,940 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01670:Rapgef3
|
APN |
15 |
97,647,543 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01902:Rapgef3
|
APN |
15 |
97,648,181 (GRCm39) |
missense |
probably benign |
0.32 |
IGL02137:Rapgef3
|
APN |
15 |
97,648,025 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02419:Rapgef3
|
APN |
15 |
97,648,171 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02427:Rapgef3
|
APN |
15 |
97,645,017 (GRCm39) |
splice site |
probably null |
|
IGL02648:Rapgef3
|
APN |
15 |
97,656,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02834:Rapgef3
|
APN |
15 |
97,646,146 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03389:Rapgef3
|
APN |
15 |
97,647,397 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03055:Rapgef3
|
UTSW |
15 |
97,647,370 (GRCm39) |
splice site |
probably benign |
|
R0394:Rapgef3
|
UTSW |
15 |
97,655,700 (GRCm39) |
intron |
probably benign |
|
R0538:Rapgef3
|
UTSW |
15 |
97,655,698 (GRCm39) |
intron |
probably benign |
|
R0744:Rapgef3
|
UTSW |
15 |
97,659,466 (GRCm39) |
splice site |
probably benign |
|
R1288:Rapgef3
|
UTSW |
15 |
97,657,223 (GRCm39) |
missense |
probably benign |
0.31 |
R1512:Rapgef3
|
UTSW |
15 |
97,655,382 (GRCm39) |
missense |
probably benign |
0.24 |
R1676:Rapgef3
|
UTSW |
15 |
97,659,063 (GRCm39) |
missense |
probably benign |
0.35 |
R1745:Rapgef3
|
UTSW |
15 |
97,648,059 (GRCm39) |
missense |
probably benign |
0.22 |
R1928:Rapgef3
|
UTSW |
15 |
97,647,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R2063:Rapgef3
|
UTSW |
15 |
97,664,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Rapgef3
|
UTSW |
15 |
97,664,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R2092:Rapgef3
|
UTSW |
15 |
97,658,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R4358:Rapgef3
|
UTSW |
15 |
97,646,529 (GRCm39) |
missense |
probably benign |
0.05 |
R4624:Rapgef3
|
UTSW |
15 |
97,656,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Rapgef3
|
UTSW |
15 |
97,656,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R4727:Rapgef3
|
UTSW |
15 |
97,658,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R4812:Rapgef3
|
UTSW |
15 |
97,651,684 (GRCm39) |
missense |
probably benign |
0.21 |
R4928:Rapgef3
|
UTSW |
15 |
97,655,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R5161:Rapgef3
|
UTSW |
15 |
97,655,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R5442:Rapgef3
|
UTSW |
15 |
97,656,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R5837:Rapgef3
|
UTSW |
15 |
97,655,223 (GRCm39) |
splice site |
probably benign |
|
R6056:Rapgef3
|
UTSW |
15 |
97,656,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R6167:Rapgef3
|
UTSW |
15 |
97,665,292 (GRCm39) |
unclassified |
probably benign |
|
R6694:Rapgef3
|
UTSW |
15 |
97,657,865 (GRCm39) |
missense |
probably benign |
0.03 |
R7039:Rapgef3
|
UTSW |
15 |
97,659,449 (GRCm39) |
missense |
probably benign |
0.01 |
R7154:Rapgef3
|
UTSW |
15 |
97,651,758 (GRCm39) |
missense |
probably benign |
|
R7380:Rapgef3
|
UTSW |
15 |
97,664,672 (GRCm39) |
missense |
probably benign |
0.00 |
R7655:Rapgef3
|
UTSW |
15 |
97,659,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7656:Rapgef3
|
UTSW |
15 |
97,659,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7754:Rapgef3
|
UTSW |
15 |
97,655,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R7849:Rapgef3
|
UTSW |
15 |
97,656,271 (GRCm39) |
critical splice donor site |
probably null |
|
R8061:Rapgef3
|
UTSW |
15 |
97,659,401 (GRCm39) |
missense |
probably benign |
|
R8117:Rapgef3
|
UTSW |
15 |
97,648,747 (GRCm39) |
missense |
probably benign |
0.01 |
R8179:Rapgef3
|
UTSW |
15 |
97,658,621 (GRCm39) |
missense |
probably benign |
0.06 |
R8819:Rapgef3
|
UTSW |
15 |
97,646,538 (GRCm39) |
missense |
probably benign |
0.39 |
R8820:Rapgef3
|
UTSW |
15 |
97,646,538 (GRCm39) |
missense |
probably benign |
0.39 |
R8824:Rapgef3
|
UTSW |
15 |
97,664,789 (GRCm39) |
missense |
probably benign |
0.39 |
R9779:Rapgef3
|
UTSW |
15 |
97,643,479 (GRCm39) |
missense |
probably damaging |
0.99 |
R9781:Rapgef3
|
UTSW |
15 |
97,643,479 (GRCm39) |
missense |
probably damaging |
0.99 |
R9782:Rapgef3
|
UTSW |
15 |
97,643,479 (GRCm39) |
missense |
probably damaging |
0.99 |
RF024:Rapgef3
|
UTSW |
15 |
97,658,621 (GRCm39) |
missense |
probably benign |
0.06 |
X0011:Rapgef3
|
UTSW |
15 |
97,659,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CGATTGGCTAGCCCTATTCC -3'
(R):5'- AGGTCTGATGCAGGTGGATC -3'
Sequencing Primer
(F):5'- GGGGCATTGATTATCCTCTCAGTC -3'
(R):5'- GAGAAGAGCTGAGGCCCCTTAG -3'
|
Posted On |
2016-11-08 |