Incidental Mutation 'R7138:Rapgef4'
ID |
553166 |
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 |
045249-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.648)
|
Stock # |
R7138 (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 72028707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 393
(S393P)
|
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: S249P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028525 Gene: ENSMUSG00000049044 AA Change: S249P
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: S393P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088336 Gene: ENSMUSG00000049044 AA Change: S393P
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: S375P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099759 Gene: ENSMUSG00000049044 AA Change: S375P
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: 99.1%
|
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 |
Abca4 |
T |
A |
3: 121,899,113 (GRCm39) |
C698* |
probably null |
Het |
Acacb |
G |
A |
5: 114,345,387 (GRCm39) |
V947M |
probably benign |
Het |
Acadsb |
T |
G |
7: 131,042,968 (GRCm39) |
L343R |
probably damaging |
Het |
Adgrf2 |
C |
T |
17: 43,021,874 (GRCm39) |
E317K |
probably damaging |
Het |
Agap2 |
A |
G |
10: 126,923,154 (GRCm39) |
T663A |
unknown |
Het |
Akap8 |
A |
T |
17: 32,535,515 (GRCm39) |
F166L |
possibly damaging |
Het |
Ankrd17 |
A |
T |
5: 90,390,836 (GRCm39) |
M2278K |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,705,242 (GRCm39) |
S148P |
probably damaging |
Het |
Brf1 |
T |
C |
12: 112,933,835 (GRCm39) |
E266G |
probably damaging |
Het |
Cabin1 |
T |
C |
10: 75,581,187 (GRCm39) |
K380E |
probably damaging |
Het |
Catsper2 |
T |
C |
2: 121,227,544 (GRCm39) |
D542G |
possibly damaging |
Het |
Cbln4 |
C |
A |
2: 171,884,095 (GRCm39) |
D42Y |
probably damaging |
Het |
Ccn6 |
T |
A |
10: 39,034,473 (GRCm39) |
Q43L |
possibly damaging |
Het |
Cd5 |
C |
T |
19: 10,697,668 (GRCm39) |
R437Q |
probably damaging |
Het |
Ceacam18 |
G |
C |
7: 43,288,706 (GRCm39) |
E152D |
possibly damaging |
Het |
Chd8 |
A |
G |
14: 52,451,955 (GRCm39) |
S1347P |
possibly damaging |
Het |
Chodl |
T |
G |
16: 78,738,335 (GRCm39) |
I101R |
probably damaging |
Het |
Clk4 |
T |
G |
11: 51,168,759 (GRCm39) |
F377L |
probably damaging |
Het |
Cntnap3 |
C |
T |
13: 64,929,539 (GRCm39) |
|
probably null |
Het |
Dab2 |
A |
G |
15: 6,458,780 (GRCm39) |
S231G |
probably benign |
Het |
Disp2 |
T |
A |
2: 118,617,361 (GRCm39) |
H118Q |
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,900,009 (GRCm39) |
F3869S |
probably damaging |
Het |
Edil3 |
C |
T |
13: 89,279,847 (GRCm39) |
T175I |
probably damaging |
Het |
Eif1ad18 |
T |
G |
12: 88,050,648 (GRCm39) |
I61R |
probably damaging |
Het |
Fap |
A |
G |
2: 62,372,522 (GRCm39) |
S319P |
probably benign |
Het |
Frmpd2 |
T |
A |
14: 33,293,761 (GRCm39) |
V1309E |
probably benign |
Het |
Galntl5 |
T |
A |
5: 25,394,842 (GRCm39) |
S70T |
probably benign |
Het |
Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
Gna15 |
G |
A |
10: 81,343,881 (GRCm39) |
T260M |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,705,342 (GRCm39) |
I531T |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,135,417 (GRCm39) |
V238A |
probably damaging |
Het |
Htr2a |
A |
G |
14: 74,943,182 (GRCm39) |
Y254C |
probably damaging |
Het |
Inpp5b |
A |
G |
4: 124,679,065 (GRCm39) |
R491G |
probably damaging |
Het |
Kcnt2 |
C |
T |
1: 140,523,778 (GRCm39) |
L1093F |
possibly damaging |
Het |
Kcp |
C |
A |
6: 29,491,861 (GRCm39) |
E922* |
probably null |
Het |
Lrp2 |
G |
A |
2: 69,296,089 (GRCm39) |
A3340V |
possibly damaging |
Het |
Lrrn1 |
T |
G |
6: 107,545,336 (GRCm39) |
V378G |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Net1 |
G |
A |
13: 3,938,510 (GRCm39) |
R126C |
probably damaging |
Het |
Nipsnap3a |
T |
C |
4: 52,993,978 (GRCm39) |
C20R |
probably benign |
Het |
Nxpe2 |
C |
T |
9: 48,232,006 (GRCm39) |
C317Y |
probably damaging |
Het |
Or10v9 |
T |
A |
19: 11,832,652 (GRCm39) |
I222F |
probably damaging |
Het |
Or52h1 |
T |
C |
7: 103,829,504 (GRCm39) |
Y37C |
probably damaging |
Het |
Or8b8 |
T |
C |
9: 37,809,360 (GRCm39) |
I220T |
probably damaging |
Het |
Or8g54 |
T |
G |
9: 39,707,086 (GRCm39) |
Y138* |
probably null |
Het |
Orm1 |
T |
A |
4: 63,262,949 (GRCm39) |
W39R |
probably damaging |
Het |
Pds5b |
A |
T |
5: 150,724,142 (GRCm39) |
K1240* |
probably null |
Het |
Pdss1 |
T |
A |
2: 22,802,681 (GRCm39) |
H173Q |
probably damaging |
Het |
Pebp1 |
A |
G |
5: 117,423,882 (GRCm39) |
W84R |
probably damaging |
Het |
Pla2g4e |
C |
T |
2: 120,001,759 (GRCm39) |
C630Y |
probably damaging |
Het |
Plaat3 |
T |
A |
19: 7,556,550 (GRCm39) |
V117E |
probably damaging |
Het |
Plekho2 |
G |
T |
9: 65,463,635 (GRCm39) |
Q405K |
probably benign |
Het |
Plppr2 |
T |
A |
9: 21,855,708 (GRCm39) |
V227E |
probably damaging |
Het |
Pphln1-ps1 |
T |
A |
16: 13,495,589 (GRCm39) |
D229E |
probably benign |
Het |
Rapgefl1 |
A |
G |
11: 98,737,900 (GRCm39) |
|
probably null |
Het |
Ripk3 |
C |
A |
14: 56,025,803 (GRCm39) |
R19L |
probably benign |
Het |
Rnase10 |
G |
T |
14: 51,247,167 (GRCm39) |
V182F |
probably damaging |
Het |
Rsf1 |
T |
A |
7: 97,319,002 (GRCm39) |
S917R |
|
Het |
Sephs2 |
T |
C |
7: 126,872,187 (GRCm39) |
N302S |
possibly damaging |
Het |
Slc13a2 |
C |
T |
11: 78,289,950 (GRCm39) |
V455M |
possibly damaging |
Het |
Slc30a2 |
A |
T |
4: 134,071,429 (GRCm39) |
D54V |
probably benign |
Het |
Slco6c1 |
T |
C |
1: 97,047,706 (GRCm39) |
E199G |
possibly damaging |
Het |
Snx27 |
A |
T |
3: 94,436,247 (GRCm39) |
M256K |
probably benign |
Het |
Spag4 |
T |
A |
2: 155,908,519 (GRCm39) |
S150T |
probably benign |
Het |
Spon1 |
T |
A |
7: 113,635,945 (GRCm39) |
C720S |
probably damaging |
Het |
Tbc1d22a |
T |
C |
15: 86,123,356 (GRCm39) |
S166P |
probably benign |
Het |
Tbc1d9 |
T |
C |
8: 83,937,113 (GRCm39) |
I65T |
probably damaging |
Het |
Tmem176a |
T |
A |
6: 48,820,953 (GRCm39) |
V141D |
probably damaging |
Het |
Tmem268 |
G |
A |
4: 63,480,687 (GRCm39) |
|
probably benign |
Het |
Tonsl |
A |
G |
15: 76,518,976 (GRCm39) |
V519A |
probably benign |
Het |
Ttn |
G |
A |
2: 76,612,376 (GRCm39) |
P17204S |
possibly damaging |
Het |
Wrap53 |
T |
A |
11: 69,454,694 (GRCm39) |
D225V |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,477,107 (GRCm39) |
A3241T |
possibly damaging |
Het |
Zfp1002 |
T |
C |
2: 150,097,372 (GRCm39) |
H47R |
probably damaging |
Het |
Znfx1 |
T |
C |
2: 166,898,697 (GRCm39) |
R76G |
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 |
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'- TCGTCCTTTTATGTTCCACAGAGAG -3'
(R):5'- TCTACATGGAGTAACAATGCCATG -3'
Sequencing Primer
(F):5'- CTACCTGAATTAGTTAGGATTTGCCG -3'
(R):5'- GCCATGGTAAATTTAATTGCAACAAC -3'
|
Posted On |
2019-05-15 |