Incidental Mutation 'R7275:Rapgef4'
ID |
565497 |
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 |
045358-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.648)
|
Stock # |
R7275 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
71811584-72087818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72038445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 532
(D532G)
|
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 damaging
Transcript: ENSMUST00000028525
AA Change: D388G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000028525 Gene: ENSMUSG00000049044 AA Change: D388G
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 damaging
Transcript: ENSMUST00000090826
AA Change: D532G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088336 Gene: ENSMUSG00000049044 AA Change: D532G
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 damaging
Transcript: ENSMUST00000102698
AA Change: D514G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099759 Gene: ENSMUSG00000049044 AA Change: D514G
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 |
|
Meta Mutation Damage Score |
0.9023 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (64/65) |
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 |
4930447C04Rik |
T |
A |
12: 72,956,795 (GRCm39) |
T132S |
possibly damaging |
Het |
4933412E24Rik |
A |
G |
15: 59,887,738 (GRCm39) |
V234A |
probably benign |
Het |
Abtb3 |
T |
A |
10: 85,490,346 (GRCm39) |
L1004Q |
probably damaging |
Het |
Acsm5 |
A |
G |
7: 119,136,511 (GRCm39) |
T361A |
possibly damaging |
Het |
Agxt2 |
G |
A |
15: 10,358,753 (GRCm39) |
R24H |
probably benign |
Het |
Asb16 |
G |
T |
11: 102,159,935 (GRCm39) |
W96L |
probably damaging |
Het |
Bche |
T |
A |
3: 73,607,969 (GRCm39) |
T486S |
probably benign |
Het |
Bpnt2 |
C |
A |
4: 4,792,962 (GRCm39) |
G48W |
probably damaging |
Het |
Cast |
T |
C |
13: 74,875,453 (GRCm39) |
T382A |
probably benign |
Het |
Cdcp1 |
T |
A |
9: 123,014,119 (GRCm39) |
K218N |
possibly damaging |
Het |
Ceacam18 |
G |
A |
7: 43,291,308 (GRCm39) |
G250D |
probably damaging |
Het |
Ciao3 |
T |
A |
17: 25,994,108 (GRCm39) |
V52E |
possibly damaging |
Het |
Ctnnd2 |
T |
C |
15: 30,905,855 (GRCm39) |
I834T |
possibly damaging |
Het |
Cyp11b2 |
C |
A |
15: 74,725,840 (GRCm39) |
G136W |
probably damaging |
Het |
Dis3 |
A |
G |
14: 99,324,925 (GRCm39) |
V502A |
probably damaging |
Het |
Dnai2 |
T |
A |
11: 114,648,054 (GRCm39) |
M610K |
unknown |
Het |
Drosha |
G |
A |
15: 12,846,169 (GRCm39) |
V435I |
possibly damaging |
Het |
Dsc2 |
T |
A |
18: 20,184,236 (GRCm39) |
R51* |
probably null |
Het |
Ergic2 |
A |
T |
6: 148,096,757 (GRCm39) |
C170S |
probably damaging |
Het |
Exoc7 |
A |
T |
11: 116,195,688 (GRCm39) |
|
probably null |
Het |
Fbxw25 |
G |
T |
9: 109,483,660 (GRCm39) |
A184E |
|
Het |
Gm4846 |
T |
A |
1: 166,314,648 (GRCm39) |
T332S |
probably benign |
Het |
Greb1l |
T |
A |
18: 10,544,561 (GRCm39) |
M1385K |
probably benign |
Het |
Grik1 |
T |
C |
16: 87,709,708 (GRCm39) |
N871S |
probably benign |
Het |
Il11ra1 |
T |
C |
4: 41,765,109 (GRCm39) |
L145P |
probably damaging |
Het |
Inpp5e |
A |
G |
2: 26,298,104 (GRCm39) |
S166P |
probably benign |
Het |
Kdm4b |
T |
A |
17: 56,703,333 (GRCm39) |
L676H |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,289,875 (GRCm39) |
K3655* |
probably null |
Het |
Lrrc74a |
A |
G |
12: 86,787,753 (GRCm39) |
N128S |
probably damaging |
Het |
Map3k14 |
T |
C |
11: 103,117,848 (GRCm39) |
E648G |
probably damaging |
Het |
Mbtps1 |
A |
T |
8: 120,269,489 (GRCm39) |
D200E |
probably benign |
Het |
Mttp |
T |
C |
3: 137,829,546 (GRCm39) |
D114G |
probably benign |
Het |
Mup13 |
G |
A |
4: 61,182,752 (GRCm39) |
T101M |
probably benign |
Het |
Neb |
T |
A |
2: 52,096,956 (GRCm39) |
T4953S |
probably benign |
Het |
Nfasc |
A |
C |
1: 132,562,001 (GRCm39) |
L147R |
probably damaging |
Het |
Obox6 |
T |
C |
7: 15,567,805 (GRCm39) |
E214G |
probably benign |
Het |
Opn3 |
T |
C |
1: 175,493,039 (GRCm39) |
N175S |
probably damaging |
Het |
Or1j12 |
A |
T |
2: 36,342,851 (GRCm39) |
M85L |
probably benign |
Het |
Or8g22 |
T |
A |
9: 38,958,815 (GRCm39) |
|
probably benign |
Het |
Or8k22 |
C |
A |
2: 86,163,136 (GRCm39) |
C188F |
possibly damaging |
Het |
Osbpl3 |
G |
T |
6: 50,323,410 (GRCm39) |
D224E |
probably benign |
Het |
Osr2 |
A |
G |
15: 35,301,032 (GRCm39) |
D196G |
probably damaging |
Het |
Pde8b |
T |
A |
13: 95,179,442 (GRCm39) |
N405Y |
probably damaging |
Het |
Pirb |
A |
G |
7: 3,719,177 (GRCm39) |
S571P |
probably benign |
Het |
Psmc3 |
T |
A |
2: 90,886,275 (GRCm39) |
I163N |
probably damaging |
Het |
Retreg1 |
A |
G |
15: 25,971,684 (GRCm39) |
D208G |
probably benign |
Het |
Rgsl1 |
T |
G |
1: 153,679,876 (GRCm39) |
|
probably null |
Het |
Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
Slc30a2 |
T |
A |
4: 134,076,581 (GRCm39) |
|
probably null |
Het |
Slc6a19 |
T |
C |
13: 73,834,197 (GRCm39) |
D335G |
probably benign |
Het |
Slco4c1 |
G |
A |
1: 96,799,497 (GRCm39) |
T113M |
probably benign |
Het |
Speer1c |
T |
C |
5: 10,295,192 (GRCm39) |
N71D |
|
Het |
Stxbp6 |
A |
G |
12: 44,948,786 (GRCm39) |
F108L |
probably benign |
Het |
Sulf1 |
T |
A |
1: 12,921,189 (GRCm39) |
|
probably null |
Het |
Syt16 |
C |
T |
12: 74,313,483 (GRCm39) |
R470C |
probably damaging |
Het |
Tbc1d19 |
T |
A |
5: 54,029,618 (GRCm39) |
D326E |
probably damaging |
Het |
Trappc14 |
T |
C |
5: 138,261,839 (GRCm39) |
S86G |
probably benign |
Het |
Trgv3 |
A |
G |
13: 19,427,188 (GRCm39) |
T24A |
probably benign |
Het |
Trpm3 |
T |
A |
19: 22,956,048 (GRCm39) |
M1170K |
possibly damaging |
Het |
Tubgcp6 |
G |
A |
15: 88,987,146 (GRCm39) |
Q1276* |
probably null |
Het |
Tyrp1 |
A |
G |
4: 80,755,821 (GRCm39) |
K197E |
possibly damaging |
Het |
Ube3d |
T |
C |
9: 86,322,679 (GRCm39) |
D165G |
probably damaging |
Het |
Zfp212 |
A |
G |
6: 47,897,678 (GRCm39) |
T7A |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,917,758 (GRCm39) |
T163A |
probably benign |
Het |
Zp2 |
A |
T |
7: 119,734,576 (GRCm39) |
|
probably null |
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 |
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 |
R7703:Rapgef4
|
UTSW |
2 |
72,010,315 (GRCm39) |
missense |
probably benign |
0.28 |
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'- TGGCTAAAGTGACTGGTTCC -3'
(R):5'- AGCTATAATACTGCCTGAGCC -3'
Sequencing Primer
(F):5'- GTGACTGGTTCCATCCATACAAGG -3'
(R):5'- CATGACTTACCGTCGGGAGATG -3'
|
Posted On |
2019-06-26 |