Incidental Mutation 'R9314:Rapgef4'
ID |
705755 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.648)
|
Stock # |
R9314 (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 T
at 72064983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 804
(H804L)
|
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 |
possibly damaging
Transcript: ENSMUST00000028525
AA Change: H660L
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000028525 Gene: ENSMUSG00000049044 AA Change: H660L
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 |
possibly damaging
Transcript: ENSMUST00000090826
AA Change: H804L
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000088336 Gene: ENSMUSG00000049044 AA Change: H804L
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 |
possibly damaging
Transcript: ENSMUST00000102698
AA Change: H786L
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099759 Gene: ENSMUSG00000049044 AA Change: H786L
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: 99.2%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
C |
17: 24,547,593 (GRCm39) |
N260K |
possibly damaging |
Het |
Anapc1 |
G |
A |
2: 128,464,420 (GRCm39) |
S1692L |
possibly damaging |
Het |
Brca2 |
A |
G |
5: 150,474,359 (GRCm39) |
R2421G |
probably damaging |
Het |
Cad |
A |
G |
5: 31,234,988 (GRCm39) |
Y2143C |
probably damaging |
Het |
Calr3 |
T |
A |
8: 73,178,535 (GRCm39) |
D356V |
possibly damaging |
Het |
Cd207 |
T |
A |
6: 83,652,699 (GRCm39) |
T144S |
probably damaging |
Het |
Cntln |
T |
C |
4: 84,924,719 (GRCm39) |
L608P |
probably damaging |
Het |
Dnah8 |
A |
T |
17: 30,990,857 (GRCm39) |
Y3300F |
probably benign |
Het |
Emb |
T |
C |
13: 117,408,604 (GRCm39) |
I315T |
probably damaging |
Het |
Esr1 |
T |
A |
10: 4,916,181 (GRCm39) |
V456E |
possibly damaging |
Het |
Evpl |
A |
T |
11: 116,118,503 (GRCm39) |
H701Q |
probably benign |
Het |
F5 |
C |
T |
1: 164,029,146 (GRCm39) |
T1715I |
probably benign |
Het |
Fut10 |
T |
A |
8: 31,691,504 (GRCm39) |
H116Q |
probably damaging |
Het |
Gm40460 |
ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,447 (GRCm39) |
|
probably benign |
Het |
Gm5591 |
T |
C |
7: 38,221,884 (GRCm39) |
T62A |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,437,708 (GRCm39) |
|
probably null |
Het |
Ifit1bl1 |
G |
C |
19: 34,576,693 (GRCm39) |
Q3E |
probably benign |
Het |
Ighg3 |
A |
T |
12: 113,323,946 (GRCm39) |
D147E |
|
Het |
Ighv8-13 |
A |
G |
12: 115,728,996 (GRCm39) |
V87A |
possibly damaging |
Het |
Kdelr1 |
A |
G |
7: 45,531,050 (GRCm39) |
T160A |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,372,510 (GRCm39) |
L945P |
probably damaging |
Het |
Krt36 |
C |
T |
11: 99,994,227 (GRCm39) |
W283* |
probably null |
Het |
Lamp3 |
T |
C |
16: 19,492,192 (GRCm39) |
M351V |
probably benign |
Het |
Lox |
C |
G |
18: 52,653,911 (GRCm39) |
R395P |
probably damaging |
Het |
Lrrtm3 |
T |
C |
10: 63,925,499 (GRCm39) |
|
probably benign |
Het |
Madcam1 |
C |
A |
10: 79,501,481 (GRCm39) |
T182K |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,029,297 (GRCm39) |
H280Q |
probably damaging |
Het |
Mrgprb5 |
A |
G |
7: 47,818,174 (GRCm39) |
I187T |
probably benign |
Het |
Muc1 |
T |
C |
3: 89,138,825 (GRCm39) |
V478A |
probably damaging |
Het |
Mug1 |
T |
G |
6: 121,834,296 (GRCm39) |
V359G |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,151,141 (GRCm39) |
H1932R |
probably benign |
Het |
Naaladl1 |
A |
C |
19: 6,162,401 (GRCm39) |
N448H |
probably damaging |
Het |
Or52b1 |
A |
T |
7: 104,979,081 (GRCm39) |
I106N |
probably damaging |
Het |
Or5a1 |
C |
T |
19: 12,097,144 (GRCm39) |
E311K |
probably benign |
Het |
Pkd1l1 |
A |
T |
11: 8,829,153 (GRCm39) |
Y1480N |
|
Het |
Poll |
T |
C |
19: 45,547,091 (GRCm39) |
E127G |
probably benign |
Het |
Ppl |
T |
C |
16: 4,922,367 (GRCm39) |
N305S |
possibly damaging |
Het |
Prss53 |
A |
G |
7: 127,490,039 (GRCm39) |
V17A |
probably benign |
Het |
Ptprj |
A |
G |
2: 90,301,631 (GRCm39) |
V74A |
possibly damaging |
Het |
Rassf8 |
A |
G |
6: 145,762,296 (GRCm39) |
T356A |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,786,772 (GRCm39) |
S1246P |
probably benign |
Het |
Setdb2 |
A |
T |
14: 59,650,240 (GRCm39) |
I458N |
probably benign |
Het |
Sgtb |
A |
G |
13: 104,254,933 (GRCm39) |
K68E |
possibly damaging |
Het |
Slc19a3 |
T |
G |
1: 83,000,094 (GRCm39) |
I308L |
possibly damaging |
Het |
Slc22a5 |
T |
C |
11: 53,762,487 (GRCm39) |
D320G |
possibly damaging |
Het |
Slc34a2 |
T |
C |
5: 53,218,143 (GRCm39) |
S141P |
possibly damaging |
Het |
Slc37a2 |
T |
C |
9: 37,150,482 (GRCm39) |
T158A |
possibly damaging |
Het |
Slc7a1 |
T |
C |
5: 148,269,327 (GRCm39) |
I598V |
probably benign |
Het |
Sphk2 |
T |
C |
7: 45,361,158 (GRCm39) |
D282G |
probably damaging |
Het |
Spty2d1 |
G |
T |
7: 46,648,486 (GRCm39) |
P148T |
probably damaging |
Het |
Supt3 |
A |
G |
17: 45,352,250 (GRCm39) |
T310A |
probably benign |
Het |
Supt5 |
T |
A |
7: 28,019,799 (GRCm39) |
D457V |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,070,347 (GRCm39) |
G2480R |
probably damaging |
Het |
Tbcd |
T |
C |
11: 121,487,297 (GRCm39) |
V803A |
probably benign |
Het |
Tex2 |
A |
T |
11: 106,435,075 (GRCm39) |
C784S |
unknown |
Het |
Thrb |
A |
G |
14: 17,963,208 (GRCm38) |
H57R |
probably benign |
Het |
Tmc4 |
T |
C |
7: 3,679,723 (GRCm39) |
T34A |
possibly damaging |
Het |
Tmprss2 |
T |
C |
16: 97,400,459 (GRCm39) |
N4S |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,195,049 (GRCm39) |
I1024M |
probably damaging |
Het |
Trnau1ap |
C |
A |
4: 132,056,697 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,566,710 (GRCm39) |
V28061A |
probably damaging |
Het |
Txnl4b |
C |
A |
8: 110,299,331 (GRCm39) |
P97Q |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,854,023 (GRCm39) |
T573A |
probably benign |
Het |
Vit |
A |
T |
17: 78,927,044 (GRCm39) |
T330S |
probably benign |
Het |
Wdr3 |
T |
C |
3: 100,050,288 (GRCm39) |
I750V |
probably benign |
Het |
Zfp59 |
C |
T |
7: 27,554,029 (GRCm39) |
L494F |
possibly damaging |
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 |
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 |
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'- GCCCTTCAAATCTATATGACAAGG -3'
(R):5'- GGTGTTTTCCATGAGAACAGAG -3'
Sequencing Primer
(F):5'- TCTATATGACAAGGTACATCCGGG -3'
(R):5'- GTTTTCCATGAGAACAGAGTTCAGG -3'
|
Posted On |
2022-03-25 |