Incidental Mutation 'R7397:Rapgef4'
ID |
573868 |
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 |
045479-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.645)
|
Stock # |
R7397 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
71811584-72087818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72036010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 501
(M501T)
|
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: M357T
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000028525 Gene: ENSMUSG00000049044 AA Change: M357T
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: M501T
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000088336 Gene: ENSMUSG00000049044 AA Change: M501T
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: M483T
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000099759 Gene: ENSMUSG00000049044 AA Change: M483T
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (77/77) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430550D23Rik |
T |
C |
2: 155,845,848 (GRCm39) |
H3R |
unknown |
Het |
Adam18 |
T |
A |
8: 25,136,321 (GRCm39) |
E400V |
possibly damaging |
Het |
Ak5 |
A |
T |
3: 152,183,989 (GRCm39) |
F473I |
probably damaging |
Het |
Arhgef10l |
G |
A |
4: 140,290,115 (GRCm39) |
P486S |
probably damaging |
Het |
Asphd1 |
T |
A |
7: 126,548,001 (GRCm39) |
R101W |
possibly damaging |
Het |
Bhlha15 |
G |
A |
5: 144,128,223 (GRCm39) |
E112K |
probably damaging |
Het |
C4b |
A |
T |
17: 34,961,364 (GRCm39) |
D198E |
possibly damaging |
Het |
Carmil1 |
G |
T |
13: 24,228,294 (GRCm39) |
P961T |
probably damaging |
Het |
Catsperb |
T |
C |
12: 101,554,282 (GRCm39) |
S659P |
possibly damaging |
Het |
Cdh3 |
C |
T |
8: 107,263,241 (GRCm39) |
R97* |
probably null |
Het |
Cep192 |
T |
C |
18: 67,989,268 (GRCm39) |
I1805T |
probably damaging |
Het |
Cep250 |
T |
G |
2: 155,823,331 (GRCm39) |
L995R |
probably damaging |
Het |
Cfap276 |
T |
A |
3: 108,450,864 (GRCm39) |
I102N |
probably benign |
Het |
Cfap53 |
T |
C |
18: 74,416,294 (GRCm39) |
V9A |
possibly damaging |
Het |
Chd5 |
A |
G |
4: 152,452,469 (GRCm39) |
K809E |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,559,130 (GRCm39) |
T1467A |
|
Het |
Ctla2a |
T |
A |
13: 61,083,463 (GRCm39) |
R60S |
probably damaging |
Het |
Cts6 |
A |
T |
13: 61,350,014 (GRCm39) |
D22E |
possibly damaging |
Het |
Ctsll3 |
T |
A |
13: 60,948,532 (GRCm39) |
E109V |
probably benign |
Het |
Dgka |
G |
A |
10: 128,556,594 (GRCm39) |
P701S |
possibly damaging |
Het |
Dnhd1 |
A |
T |
7: 105,354,504 (GRCm39) |
I3089F |
possibly damaging |
Het |
Dock2 |
T |
A |
11: 34,609,816 (GRCm39) |
D208V |
probably benign |
Het |
Fnbp1l |
G |
T |
3: 122,338,286 (GRCm39) |
Q520K |
probably benign |
Het |
Foxc1 |
A |
G |
13: 31,991,618 (GRCm39) |
D143G |
probably damaging |
Het |
Fsip2 |
G |
A |
2: 82,815,601 (GRCm39) |
R3778Q |
possibly damaging |
Het |
Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
Gm4871 |
A |
T |
5: 144,969,508 (GRCm39) |
C4S |
probably damaging |
Het |
Gpt |
C |
A |
15: 76,582,717 (GRCm39) |
T294K |
probably benign |
Het |
Hsd17b4 |
G |
T |
18: 50,279,491 (GRCm39) |
G157C |
probably damaging |
Het |
Iars1 |
G |
A |
13: 49,882,153 (GRCm39) |
E1066K |
probably benign |
Het |
Ifih1 |
G |
A |
2: 62,453,832 (GRCm39) |
T260I |
possibly damaging |
Het |
Ighv5-8 |
TATATATATATATATATATATA |
TATATATATATATATATATATATA |
12: 113,618,565 (GRCm39) |
|
probably null |
Het |
Ipcef1 |
T |
A |
10: 6,922,244 (GRCm39) |
*338R |
probably null |
Het |
Kif20a |
A |
G |
18: 34,760,729 (GRCm39) |
T166A |
probably damaging |
Het |
Map3k1 |
G |
A |
13: 111,891,742 (GRCm39) |
A1171V |
probably damaging |
Het |
Map3k21 |
T |
C |
8: 126,661,855 (GRCm39) |
F484S |
probably damaging |
Het |
Mbnl1 |
A |
T |
3: 60,523,051 (GRCm39) |
Q180L |
probably benign |
Het |
Mmp2 |
T |
C |
8: 93,562,755 (GRCm39) |
F331L |
possibly damaging |
Het |
Ms4a7 |
G |
T |
19: 11,298,916 (GRCm39) |
H257N |
probably benign |
Het |
Mtbp |
T |
A |
15: 55,432,547 (GRCm39) |
S285T |
probably benign |
Het |
Mtrex |
A |
T |
13: 113,058,220 (GRCm39) |
D70E |
probably benign |
Het |
Myo1c |
A |
G |
11: 75,562,068 (GRCm39) |
N852S |
probably benign |
Het |
Myom3 |
T |
A |
4: 135,510,429 (GRCm39) |
F574Y |
probably damaging |
Het |
Nbeal2 |
A |
G |
9: 110,457,100 (GRCm39) |
I2322T |
possibly damaging |
Het |
Nlrp10 |
A |
G |
7: 108,523,899 (GRCm39) |
L527P |
probably damaging |
Het |
Nudt16l2 |
A |
T |
9: 105,021,621 (GRCm39) |
W142R |
probably damaging |
Het |
Nxnl1 |
C |
T |
8: 72,019,105 (GRCm39) |
G40D |
probably damaging |
Het |
Or52n1 |
C |
T |
7: 104,382,815 (GRCm39) |
C252Y |
possibly damaging |
Het |
Or5af1 |
C |
T |
11: 58,722,115 (GRCm39) |
T45M |
probably benign |
Het |
Otof |
A |
T |
5: 30,533,051 (GRCm39) |
W1564R |
probably damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,850,327 (GRCm39) |
Y778C |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,617,624 (GRCm39) |
|
probably null |
Het |
Pdpr |
T |
A |
8: 111,839,385 (GRCm39) |
N169K |
possibly damaging |
Het |
Pkd1l2 |
C |
A |
8: 117,762,641 (GRCm39) |
V1379F |
possibly damaging |
Het |
Ppp4r1 |
T |
G |
17: 66,144,786 (GRCm39) |
I801S |
probably benign |
Het |
Ppp4r4 |
A |
T |
12: 103,579,065 (GRCm39) |
|
probably null |
Het |
Prl2c5 |
A |
G |
13: 13,366,327 (GRCm39) |
D202G |
probably benign |
Het |
Rap1gap2 |
T |
C |
11: 74,305,237 (GRCm39) |
T323A |
probably benign |
Het |
Rbm6 |
A |
G |
9: 107,729,718 (GRCm39) |
M310T |
probably benign |
Het |
Rdh1 |
A |
T |
10: 127,596,047 (GRCm39) |
I81F |
probably benign |
Het |
Rock1 |
C |
T |
18: 10,097,599 (GRCm39) |
A730T |
possibly damaging |
Het |
Rsl1 |
C |
T |
13: 67,330,101 (GRCm39) |
T183I |
possibly damaging |
Het |
Scyl3 |
T |
C |
1: 163,778,487 (GRCm39) |
|
probably null |
Het |
Snap29 |
T |
C |
16: 17,237,236 (GRCm39) |
F116L |
probably damaging |
Het |
Syt5 |
A |
T |
7: 4,545,395 (GRCm39) |
|
probably null |
Het |
Tat |
T |
C |
8: 110,724,200 (GRCm39) |
L363P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,601,316 (GRCm39) |
V18719A |
possibly damaging |
Het |
Ube2e2 |
T |
A |
14: 18,630,339 (GRCm38) |
D107V |
probably damaging |
Het |
Vmn1r64 |
A |
G |
7: 5,887,013 (GRCm39) |
S177P |
possibly damaging |
Het |
Vmn1r91 |
A |
T |
7: 19,835,695 (GRCm39) |
T205S |
possibly damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,282,947 (GRCm39) |
W214R |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,800,498 (GRCm39) |
F615I |
probably damaging |
Het |
Vmn2r91 |
G |
T |
17: 18,356,060 (GRCm39) |
V576L |
probably benign |
Het |
Vsig10l |
A |
C |
7: 43,117,431 (GRCm39) |
T573P |
probably damaging |
Het |
Wdr93 |
A |
G |
7: 79,416,172 (GRCm39) |
Q276R |
probably null |
Het |
Zc3h7b |
T |
C |
15: 81,653,354 (GRCm39) |
V86A |
possibly damaging |
Het |
Zeb1 |
T |
A |
18: 5,761,394 (GRCm39) |
Y231N |
probably damaging |
Het |
Zfp407 |
T |
C |
18: 84,579,944 (GRCm39) |
K390E |
possibly damaging |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
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 |
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'- CGTGGTCTTCCTCACTACAG -3'
(R):5'- CTGGGGATGCTCTTTAAAACTGG -3'
Sequencing Primer
(F):5'- TGGTCTTCCTCACTACAGGGAAG -3'
(R):5'- GCTCTTTAAAACTGGATGCTTACGG -3'
|
Posted On |
2019-09-13 |