Incidental Mutation 'R1952:Rapgef4'
ID |
217353 |
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 |
039966-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.648)
|
Stock # |
R1952 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
71811584-72087818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72038471 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 541
(M541V)
|
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: M397V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000028525 Gene: ENSMUSG00000049044 AA Change: M397V
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: M541V
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000088336 Gene: ENSMUSG00000049044 AA Change: M541V
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: M523V
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000099759 Gene: ENSMUSG00000049044 AA Change: M523V
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153887
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156031
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024G13Rik |
A |
G |
14: 32,110,293 (GRCm39) |
V6A |
possibly damaging |
Het |
Accsl |
G |
T |
2: 93,689,778 (GRCm39) |
H376Q |
probably damaging |
Het |
Adgrg1 |
T |
C |
8: 95,735,119 (GRCm39) |
|
probably null |
Het |
Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,338,566 (GRCm39) |
D128G |
probably damaging |
Het |
Bcl2l14 |
A |
G |
6: 134,409,329 (GRCm39) |
Y301C |
probably damaging |
Het |
Camsap3 |
A |
G |
8: 3,654,789 (GRCm39) |
T804A |
probably damaging |
Het |
Capn11 |
A |
T |
17: 45,953,885 (GRCm39) |
W154R |
probably damaging |
Het |
Cd44 |
T |
A |
2: 102,683,432 (GRCm39) |
T201S |
probably damaging |
Het |
Cers4 |
G |
A |
8: 4,573,461 (GRCm39) |
W319* |
probably null |
Het |
Col27a1 |
T |
A |
4: 63,202,130 (GRCm39) |
|
probably null |
Het |
Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,700,972 (GRCm39) |
Y282C |
probably benign |
Het |
Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
Dusp7 |
T |
A |
9: 106,248,028 (GRCm39) |
C219S |
probably benign |
Het |
Epha7 |
A |
G |
4: 28,950,474 (GRCm39) |
N759S |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,486,963 (GRCm39) |
V3413A |
probably benign |
Het |
Gls2 |
A |
G |
10: 128,045,231 (GRCm39) |
H576R |
probably benign |
Het |
Gm4884 |
G |
A |
7: 40,693,671 (GRCm39) |
V547M |
probably benign |
Het |
Hap1 |
A |
G |
11: 100,243,105 (GRCm39) |
V174A |
probably damaging |
Het |
Il12rb2 |
A |
G |
6: 67,269,300 (GRCm39) |
S838P |
probably damaging |
Het |
Ints8 |
T |
C |
4: 11,221,150 (GRCm39) |
I742V |
probably benign |
Het |
Katnal2 |
G |
T |
18: 77,067,707 (GRCm39) |
S411R |
probably benign |
Het |
Lrp1 |
A |
C |
10: 127,403,300 (GRCm39) |
V2091G |
probably damaging |
Het |
Mettl21c |
A |
T |
1: 44,056,368 (GRCm39) |
D20E |
probably damaging |
Het |
Mib1 |
A |
T |
18: 10,812,077 (GRCm39) |
E991D |
possibly damaging |
Het |
Mip |
T |
C |
10: 128,061,772 (GRCm39) |
S8P |
possibly damaging |
Het |
Mllt6 |
T |
C |
11: 97,568,048 (GRCm39) |
S826P |
probably damaging |
Het |
Mlst8 |
AT |
ATT |
17: 24,696,987 (GRCm39) |
|
probably null |
Het |
Myrfl |
C |
T |
10: 116,658,716 (GRCm39) |
V414I |
probably benign |
Het |
Nbeal1 |
T |
C |
1: 60,273,999 (GRCm39) |
V409A |
probably damaging |
Het |
Nin |
T |
A |
12: 70,077,700 (GRCm39) |
Q1035L |
probably damaging |
Het |
Nlgn1 |
T |
A |
3: 25,490,464 (GRCm39) |
D421V |
probably damaging |
Het |
Nlrp10 |
A |
G |
7: 108,523,770 (GRCm39) |
V570A |
probably benign |
Het |
Olfm3 |
A |
T |
3: 114,895,589 (GRCm39) |
E157V |
probably null |
Het |
Or8g24 |
T |
A |
9: 38,989,580 (GRCm39) |
I154F |
probably benign |
Het |
Or8g37 |
T |
C |
9: 39,731,363 (GRCm39) |
S143P |
probably benign |
Het |
Otud7a |
A |
G |
7: 63,300,624 (GRCm39) |
D21G |
probably damaging |
Het |
Pax2 |
A |
G |
19: 44,777,271 (GRCm39) |
T155A |
probably benign |
Het |
Pcf11 |
A |
T |
7: 92,310,546 (GRCm39) |
S481T |
probably damaging |
Het |
Prkab2 |
T |
C |
3: 97,573,943 (GRCm39) |
V194A |
probably benign |
Het |
Prl3a1 |
G |
A |
13: 27,454,136 (GRCm39) |
G38E |
possibly damaging |
Het |
Psmb8 |
T |
C |
17: 34,419,884 (GRCm39) |
V246A |
probably damaging |
Het |
Ptpn12 |
A |
T |
5: 21,203,308 (GRCm39) |
V490E |
probably benign |
Het |
Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
Qars1 |
G |
A |
9: 108,390,380 (GRCm39) |
R427H |
probably benign |
Het |
R3hdml |
T |
C |
2: 163,340,216 (GRCm39) |
F128L |
probably benign |
Het |
Rhbdf1 |
G |
A |
11: 32,164,277 (GRCm39) |
R234* |
probably null |
Het |
Rufy1 |
A |
T |
11: 50,297,233 (GRCm39) |
D406E |
probably benign |
Het |
Satb1 |
A |
T |
17: 52,047,173 (GRCm39) |
L683Q |
probably damaging |
Het |
Satb2 |
T |
C |
1: 56,938,229 (GRCm39) |
T132A |
probably damaging |
Het |
Sbspon |
A |
G |
1: 15,930,519 (GRCm39) |
S156P |
probably damaging |
Het |
Shb |
A |
T |
4: 45,458,347 (GRCm39) |
|
probably null |
Het |
She |
A |
G |
3: 89,756,792 (GRCm39) |
K282R |
possibly damaging |
Het |
Slc25a13 |
A |
G |
6: 6,152,482 (GRCm39) |
L85P |
probably damaging |
Het |
Slc7a13 |
A |
T |
4: 19,841,578 (GRCm39) |
H475L |
probably benign |
Het |
Sorl1 |
C |
T |
9: 41,957,920 (GRCm39) |
V575I |
probably benign |
Het |
Spag9 |
T |
A |
11: 93,988,184 (GRCm39) |
C833S |
possibly damaging |
Het |
Speer2 |
A |
C |
16: 69,654,052 (GRCm39) |
N232K |
probably damaging |
Het |
Syncrip |
A |
T |
9: 88,358,927 (GRCm39) |
M194K |
probably damaging |
Het |
Sytl3 |
A |
C |
17: 6,995,732 (GRCm39) |
T171P |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,925,747 (GRCm39) |
Y114N |
probably damaging |
Het |
Tamalin |
T |
C |
15: 101,122,381 (GRCm39) |
Y67H |
probably benign |
Het |
Tap1 |
C |
G |
17: 34,412,481 (GRCm39) |
P506R |
probably damaging |
Het |
Tle6 |
T |
C |
10: 81,431,319 (GRCm39) |
D212G |
possibly damaging |
Het |
Trim80 |
G |
T |
11: 115,332,155 (GRCm39) |
E116* |
probably null |
Het |
Ttll4 |
A |
G |
1: 74,726,718 (GRCm39) |
R745G |
probably damaging |
Het |
Vdac2 |
A |
T |
14: 21,887,947 (GRCm39) |
I85F |
possibly damaging |
Het |
Vmn1r188 |
A |
G |
13: 22,272,309 (GRCm39) |
R88G |
probably damaging |
Het |
Washc2 |
T |
C |
6: 116,232,052 (GRCm39) |
S821P |
possibly damaging |
Het |
Wdhd1 |
T |
C |
14: 47,507,647 (GRCm39) |
Y213C |
probably damaging |
Het |
Wdr55 |
C |
A |
18: 36,893,437 (GRCm39) |
P33Q |
probably damaging |
Het |
Yrdc |
C |
T |
4: 124,745,739 (GRCm39) |
A32V |
probably benign |
Het |
Zfp608 |
T |
A |
18: 55,030,851 (GRCm39) |
K1030* |
probably null |
Het |
Zfp618 |
T |
A |
4: 63,050,555 (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 |
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 |
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'- GGTTCCATCCATACAAGGCTG -3'
(R):5'- GGCGCTTCAGAGTCTGATAAG -3'
Sequencing Primer
(F):5'- CCATACAAGGCTGTCTTCCTATATG -3'
(R):5'- TTCAGAGTCTGATAAGACCAAAAGC -3'
|
Posted On |
2014-08-01 |