Incidental Mutation 'R7703:Rapgef4'
ID |
594101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rapgef4
|
Ensembl Gene |
ENSMUSG00000049044 |
Gene Name |
Rap guanine nucleotide exchange factor (GEF) 4 |
Synonyms |
5730402K07Rik, 6330581N18Rik, Epac2, cAMP-GEFII, 1300003D15Rik |
MMRRC Submission |
045764-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.648)
|
Stock # |
R7703 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
71811584-72087818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72010315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 291
(D291G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028525]
[ENSMUST00000090826]
[ENSMUST00000102698]
|
AlphaFold |
Q9EQZ6 |
PDB Structure |
CRYSTAL STRUCTURE OF THE REGULATORY DOMAIN OF EPAC2 [X-RAY DIFFRACTION]
STRUCTURE OF THE CAMP RESPONSIVE EXCHANGE FACTOR EPAC2 IN ITS AUTO-INHIBITED STATE [X-RAY DIFFRACTION]
Structure of Epac2 in complex with cyclic-AMP and Rap [X-RAY DIFFRACTION]
Conformational dynamics of exchange protein directly activated by cAMP [X-RAY DIFFRACTION]
Selective activation of Epac1 and Epac2 [X-RAY DIFFRACTION]
Selective activation of Epac1 and Epac2 [X-RAY DIFFRACTION]
Selective activation of Epac1 and Epac2 [X-RAY DIFFRACTION]
Selective activation of Epac1 and Epac2 [X-RAY DIFFRACTION]
Selective activation of Epac1 and Epac2 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000028525
AA Change: D147G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000028525 Gene: ENSMUSG00000049044 AA Change: D147G
Domain | Start | End | E-Value | Type |
DEP
|
72 |
147 |
3.43e-27 |
SMART |
low complexity region
|
158 |
167 |
N/A |
INTRINSIC |
cNMP
|
212 |
331 |
4.02e-15 |
SMART |
RasGEFN
|
351 |
486 |
3.61e-7 |
SMART |
Blast:RasGEF
|
534 |
607 |
1e-33 |
BLAST |
RasGEF
|
624 |
866 |
8.09e-105 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090826
AA Change: D291G
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000088336 Gene: ENSMUSG00000049044 AA Change: D291G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
cNMP
|
43 |
162 |
4.62e-15 |
SMART |
DEP
|
216 |
291 |
3.43e-27 |
SMART |
low complexity region
|
302 |
311 |
N/A |
INTRINSIC |
cNMP
|
356 |
475 |
4.02e-15 |
SMART |
RasGEFN
|
495 |
630 |
3.61e-7 |
SMART |
Blast:RasGEF
|
678 |
751 |
2e-33 |
BLAST |
RasGEF
|
768 |
1010 |
8.09e-105 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102698
AA Change: D273G
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000099759 Gene: ENSMUSG00000049044 AA Change: D273G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
cNMP
|
43 |
162 |
4.62e-15 |
SMART |
DEP
|
198 |
273 |
3.43e-27 |
SMART |
low complexity region
|
284 |
293 |
N/A |
INTRINSIC |
cNMP
|
338 |
457 |
4.02e-15 |
SMART |
RasGEFN
|
477 |
612 |
3.61e-7 |
SMART |
Blast:RasGEF
|
660 |
733 |
2e-33 |
BLAST |
RasGEF
|
750 |
992 |
8.09e-105 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin granule fusion in pancreatic islet cells during the first phase of cAMP-dependent insulin granule exocytosis. Mice homozygous for a knock-out allele exhibit impaired isoproterenol-induced SR calcium leak and arrhythmia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
T |
C |
11: 58,316,593 (GRCm39) |
I191T |
probably damaging |
Het |
2310003L06Rik |
T |
C |
5: 88,120,671 (GRCm39) |
L476P |
possibly damaging |
Het |
Aasdh |
T |
C |
5: 77,035,924 (GRCm39) |
D387G |
probably damaging |
Het |
Ahsa2 |
T |
A |
11: 23,440,415 (GRCm39) |
T327S |
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,553,678 (GRCm39) |
V523E |
probably damaging |
Het |
Baz2b |
C |
A |
2: 59,747,769 (GRCm39) |
R1298L |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,765,503 (GRCm39) |
T802A |
possibly damaging |
Het |
Cdh23 |
G |
T |
10: 60,173,043 (GRCm39) |
T1714K |
probably damaging |
Het |
Chrna3 |
A |
T |
9: 54,923,408 (GRCm39) |
D133E |
probably benign |
Het |
Cnot1 |
C |
T |
8: 96,486,726 (GRCm39) |
|
probably null |
Het |
Col16a1 |
A |
T |
4: 129,990,295 (GRCm39) |
N1396Y |
unknown |
Het |
Cox11 |
A |
G |
11: 90,529,245 (GRCm39) |
N77S |
probably benign |
Het |
Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
Cytip |
A |
G |
2: 58,037,920 (GRCm39) |
V148A |
probably damaging |
Het |
Diaph1 |
T |
C |
18: 38,023,862 (GRCm39) |
I659V |
unknown |
Het |
Dmxl2 |
A |
T |
9: 54,368,370 (GRCm39) |
M26K |
probably benign |
Het |
Erp44 |
T |
A |
4: 48,196,904 (GRCm39) |
I340F |
probably benign |
Het |
Fam186a |
A |
G |
15: 99,852,678 (GRCm39) |
M180T |
unknown |
Het |
Frem2 |
C |
T |
3: 53,429,589 (GRCm39) |
V2793I |
probably benign |
Het |
Gm19410 |
A |
G |
8: 36,266,539 (GRCm39) |
E1064G |
probably damaging |
Het |
Gria4 |
T |
C |
9: 4,503,588 (GRCm39) |
I343V |
probably benign |
Het |
Grsf1 |
T |
A |
5: 88,819,150 (GRCm39) |
N228Y |
probably damaging |
Het |
H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
Ighv1-18 |
A |
T |
12: 114,646,381 (GRCm39) |
N74K |
probably benign |
Het |
Kcnh6 |
A |
T |
11: 105,914,703 (GRCm39) |
T703S |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,000,798 (GRCm39) |
D2256V |
|
Het |
Lrrc63 |
T |
C |
14: 75,360,447 (GRCm39) |
T352A |
possibly damaging |
Het |
Lztfl1 |
T |
C |
9: 123,531,194 (GRCm39) |
E258G |
probably damaging |
Het |
Mcph1 |
T |
C |
8: 18,721,122 (GRCm39) |
I650T |
possibly damaging |
Het |
Mep1a |
T |
C |
17: 43,788,997 (GRCm39) |
D606G |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,516,578 (GRCm39) |
I313M |
|
Het |
Myh7b |
A |
G |
2: 155,462,356 (GRCm39) |
Y353C |
probably null |
Het |
Nfatc1 |
A |
G |
18: 80,725,504 (GRCm39) |
L420P |
probably damaging |
Het |
Olfml1 |
A |
G |
7: 107,170,392 (GRCm39) |
E93G |
probably damaging |
Het |
Or6b1 |
A |
T |
6: 42,814,938 (GRCm39) |
E41V |
probably damaging |
Het |
Or8c11 |
A |
G |
9: 38,289,357 (GRCm39) |
H54R |
probably benign |
Het |
Pax1 |
A |
T |
2: 147,208,034 (GRCm39) |
N214I |
probably damaging |
Het |
Pcdhb17 |
C |
A |
18: 37,619,801 (GRCm39) |
H530Q |
probably benign |
Het |
Pcdhgb7 |
A |
T |
18: 37,885,321 (GRCm39) |
M164L |
probably benign |
Het |
Pcolce |
T |
C |
5: 137,603,474 (GRCm39) |
N453S |
probably benign |
Het |
Prr36 |
T |
C |
8: 4,262,982 (GRCm39) |
T895A |
probably benign |
Het |
Ptprq |
C |
T |
10: 107,480,007 (GRCm39) |
V1088I |
probably benign |
Het |
Rab5a |
T |
A |
17: 53,807,485 (GRCm39) |
F174I |
probably damaging |
Het |
Rbm25 |
A |
T |
12: 83,721,864 (GRCm39) |
K683N |
possibly damaging |
Het |
Rbpj |
T |
C |
5: 53,803,240 (GRCm39) |
I156T |
probably damaging |
Het |
Rgsl1 |
A |
G |
1: 153,669,610 (GRCm39) |
S259P |
possibly damaging |
Het |
Ring1 |
T |
C |
17: 34,242,109 (GRCm39) |
D100G |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,690,110 (GRCm39) |
D1166E |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,443,539 (GRCm39) |
K1862E |
possibly damaging |
Het |
Scamp5 |
A |
G |
9: 57,354,465 (GRCm39) |
I63T |
possibly damaging |
Het |
Septin14 |
C |
T |
5: 129,763,092 (GRCm39) |
A334T |
possibly damaging |
Het |
Sh3rf2 |
A |
T |
18: 42,289,201 (GRCm39) |
Q706L |
probably benign |
Het |
Skap2 |
A |
T |
6: 51,884,934 (GRCm39) |
H242Q |
probably benign |
Het |
Spmap2l |
T |
C |
5: 77,164,444 (GRCm39) |
I149T |
probably benign |
Het |
Tfpt |
A |
G |
7: 3,623,744 (GRCm39) |
|
probably null |
Het |
Thg1l |
T |
G |
11: 45,846,120 (GRCm39) |
D58A |
probably damaging |
Het |
Thyn1 |
A |
G |
9: 26,918,143 (GRCm39) |
E177G |
probably benign |
Het |
Tmem151b |
C |
T |
17: 45,856,724 (GRCm39) |
A239T |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,788,095 (GRCm39) |
V840A |
probably benign |
Het |
Usp32 |
A |
T |
11: 84,968,153 (GRCm39) |
V170E |
probably damaging |
Het |
Vmn2r29 |
A |
G |
7: 7,234,864 (GRCm39) |
V674A |
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,263,513 (GRCm39) |
N781S |
probably damaging |
Het |
Zbtb7c |
C |
A |
18: 76,270,433 (GRCm39) |
Q174K |
probably benign |
Het |
Zeb1 |
T |
C |
18: 5,766,917 (GRCm39) |
I476T |
probably benign |
Het |
Zfp91 |
A |
T |
19: 12,754,241 (GRCm39) |
D282E |
probably benign |
Het |
|
Other mutations in Rapgef4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00467:Rapgef4
|
APN |
2 |
72,086,656 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL00858:Rapgef4
|
APN |
2 |
72,029,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01408:Rapgef4
|
APN |
2 |
72,005,185 (GRCm39) |
nonsense |
probably null |
|
IGL01673:Rapgef4
|
APN |
2 |
72,071,781 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01678:Rapgef4
|
APN |
2 |
72,072,569 (GRCm39) |
splice site |
probably benign |
|
IGL01725:Rapgef4
|
APN |
2 |
72,005,218 (GRCm39) |
missense |
probably benign |
0.24 |
IGL01871:Rapgef4
|
APN |
2 |
72,028,704 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01935:Rapgef4
|
APN |
2 |
72,064,467 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02001:Rapgef4
|
APN |
2 |
72,055,396 (GRCm39) |
splice site |
probably benign |
|
IGL02041:Rapgef4
|
APN |
2 |
72,029,140 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02134:Rapgef4
|
APN |
2 |
72,010,405 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02410:Rapgef4
|
APN |
2 |
72,056,938 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02807:Rapgef4
|
APN |
2 |
72,035,993 (GRCm39) |
splice site |
probably benign |
|
IGL03066:Rapgef4
|
APN |
2 |
71,971,523 (GRCm39) |
splice site |
probably benign |
|
IGL03282:Rapgef4
|
APN |
2 |
72,036,096 (GRCm39) |
splice site |
probably benign |
|
IGL03291:Rapgef4
|
APN |
2 |
72,026,047 (GRCm39) |
missense |
probably damaging |
1.00 |
P0033:Rapgef4
|
UTSW |
2 |
71,967,675 (GRCm39) |
intron |
probably benign |
|
R0045:Rapgef4
|
UTSW |
2 |
72,029,122 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0045:Rapgef4
|
UTSW |
2 |
72,029,122 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0309:Rapgef4
|
UTSW |
2 |
72,056,374 (GRCm39) |
missense |
probably benign |
0.02 |
R0398:Rapgef4
|
UTSW |
2 |
71,861,385 (GRCm39) |
missense |
probably damaging |
0.99 |
R0747:Rapgef4
|
UTSW |
2 |
72,053,417 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1216:Rapgef4
|
UTSW |
2 |
72,038,492 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1264:Rapgef4
|
UTSW |
2 |
71,861,449 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1302:Rapgef4
|
UTSW |
2 |
71,875,504 (GRCm39) |
missense |
probably benign |
0.31 |
R1460:Rapgef4
|
UTSW |
2 |
71,861,520 (GRCm39) |
critical splice donor site |
probably null |
|
R1483:Rapgef4
|
UTSW |
2 |
71,885,370 (GRCm39) |
critical splice donor site |
probably null |
|
R1682:Rapgef4
|
UTSW |
2 |
72,056,912 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1768:Rapgef4
|
UTSW |
2 |
72,056,131 (GRCm39) |
splice site |
probably benign |
|
R1858:Rapgef4
|
UTSW |
2 |
71,861,408 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1860:Rapgef4
|
UTSW |
2 |
72,065,064 (GRCm39) |
missense |
probably benign |
0.05 |
R1952:Rapgef4
|
UTSW |
2 |
72,038,471 (GRCm39) |
missense |
probably benign |
0.07 |
R2025:Rapgef4
|
UTSW |
2 |
72,073,083 (GRCm39) |
missense |
probably benign |
0.01 |
R2128:Rapgef4
|
UTSW |
2 |
72,056,897 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2159:Rapgef4
|
UTSW |
2 |
72,005,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R2201:Rapgef4
|
UTSW |
2 |
71,875,533 (GRCm39) |
missense |
probably damaging |
0.96 |
R2883:Rapgef4
|
UTSW |
2 |
71,861,469 (GRCm39) |
missense |
probably benign |
|
R3015:Rapgef4
|
UTSW |
2 |
72,028,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R4278:Rapgef4
|
UTSW |
2 |
72,028,739 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5256:Rapgef4
|
UTSW |
2 |
71,864,378 (GRCm39) |
missense |
probably damaging |
0.97 |
R5572:Rapgef4
|
UTSW |
2 |
71,864,464 (GRCm39) |
critical splice donor site |
probably null |
|
R5574:Rapgef4
|
UTSW |
2 |
71,864,464 (GRCm39) |
critical splice donor site |
probably null |
|
R5575:Rapgef4
|
UTSW |
2 |
71,864,464 (GRCm39) |
critical splice donor site |
probably null |
|
R5749:Rapgef4
|
UTSW |
2 |
72,073,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R6007:Rapgef4
|
UTSW |
2 |
72,010,293 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6084:Rapgef4
|
UTSW |
2 |
72,026,622 (GRCm39) |
critical splice donor site |
probably null |
|
R6192:Rapgef4
|
UTSW |
2 |
71,811,661 (GRCm39) |
missense |
probably benign |
0.00 |
R6409:Rapgef4
|
UTSW |
2 |
72,008,581 (GRCm39) |
missense |
probably benign |
0.01 |
R6683:Rapgef4
|
UTSW |
2 |
71,885,123 (GRCm39) |
intron |
probably benign |
|
R6774:Rapgef4
|
UTSW |
2 |
72,056,119 (GRCm39) |
missense |
probably benign |
0.01 |
R6844:Rapgef4
|
UTSW |
2 |
72,064,970 (GRCm39) |
missense |
probably damaging |
0.99 |
R6999:Rapgef4
|
UTSW |
2 |
72,069,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R7077:Rapgef4
|
UTSW |
2 |
72,071,820 (GRCm39) |
missense |
probably damaging |
0.96 |
R7138:Rapgef4
|
UTSW |
2 |
72,028,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R7275:Rapgef4
|
UTSW |
2 |
72,038,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R7352:Rapgef4
|
UTSW |
2 |
72,010,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R7397:Rapgef4
|
UTSW |
2 |
72,036,010 (GRCm39) |
missense |
probably benign |
0.23 |
R7508:Rapgef4
|
UTSW |
2 |
72,036,077 (GRCm39) |
missense |
probably benign |
0.00 |
R7620:Rapgef4
|
UTSW |
2 |
72,059,422 (GRCm39) |
missense |
probably damaging |
0.99 |
R7770:Rapgef4
|
UTSW |
2 |
72,028,739 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7814:Rapgef4
|
UTSW |
2 |
72,053,461 (GRCm39) |
missense |
probably benign |
|
R7868:Rapgef4
|
UTSW |
2 |
72,031,481 (GRCm39) |
missense |
probably benign |
0.11 |
R8210:Rapgef4
|
UTSW |
2 |
72,056,364 (GRCm39) |
missense |
probably benign |
0.00 |
R8967:Rapgef4
|
UTSW |
2 |
72,056,854 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9113:Rapgef4
|
UTSW |
2 |
71,861,493 (GRCm39) |
missense |
probably benign |
0.43 |
R9157:Rapgef4
|
UTSW |
2 |
72,005,212 (GRCm39) |
missense |
probably benign |
0.06 |
R9314:Rapgef4
|
UTSW |
2 |
72,064,983 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9552:Rapgef4
|
UTSW |
2 |
72,008,561 (GRCm39) |
missense |
probably benign |
|
R9578:Rapgef4
|
UTSW |
2 |
72,026,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R9620:Rapgef4
|
UTSW |
2 |
72,036,051 (GRCm39) |
missense |
probably benign |
0.01 |
R9665:Rapgef4
|
UTSW |
2 |
72,036,018 (GRCm39) |
missense |
probably benign |
0.17 |
X0062:Rapgef4
|
UTSW |
2 |
72,056,951 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGACTCTGACTCTGCTGTTAG -3'
(R):5'- GGGAAGACCAGGACTTTTGC -3'
Sequencing Primer
(F):5'- AGCTGCACAACTCTTGTCAG -3'
(R):5'- GACCAGGACTTTTGCTGCCTTG -3'
|
Posted On |
2019-11-12 |