Incidental Mutation 'R7077:Rapgef4'
| ID |
549258 |
| 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 |
045172-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.648)
|
| Stock # |
R7077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
71811584-72087818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72071820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 900
(M900T)
|
| 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: M756T
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028525
Gene: ENSMUSG00000049044
AA Change: M756T
| 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: M900T
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044
AA Change: M900T
| 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: M882T
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044
AA Change: M882T
| 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 |
0.4451 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (54/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
C |
T |
12: 81,605,893 (GRCm39) |
C623Y |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,265,325 (GRCm39) |
K322R |
probably null |
Het |
| Ankrd17 |
T |
C |
5: 90,433,723 (GRCm39) |
H682R |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,094,276 (GRCm39) |
D187G |
probably damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,879,231 (GRCm39) |
D840G |
unknown |
Het |
| AW551984 |
C |
T |
9: 39,502,723 (GRCm39) |
V650I |
probably benign |
Het |
| Bok |
T |
A |
1: 93,616,911 (GRCm39) |
Y86N |
probably damaging |
Het |
| Ccdc146 |
T |
A |
5: 21,510,272 (GRCm39) |
N580I |
possibly damaging |
Het |
| Ccng2 |
T |
C |
5: 93,417,199 (GRCm39) |
S72P |
possibly damaging |
Het |
| Cfap74 |
T |
G |
4: 155,540,134 (GRCm39) |
I977S |
unknown |
Het |
| Cobl |
T |
C |
11: 12,203,441 (GRCm39) |
N1087S |
probably benign |
Het |
| Cyp21a1 |
C |
A |
17: 35,021,333 (GRCm39) |
R346L |
probably damaging |
Het |
| Eif4a1 |
A |
C |
11: 69,561,490 (GRCm39) |
F52L |
probably damaging |
Het |
| Eif4ebp2 |
A |
C |
10: 61,269,580 (GRCm39) |
I120S |
probably damaging |
Het |
| Enpp2 |
A |
C |
15: 54,764,787 (GRCm39) |
D146E |
probably benign |
Het |
| Exosc9 |
T |
C |
3: 36,607,205 (GRCm39) |
Y30H |
probably damaging |
Het |
| Fam117a |
G |
A |
11: 95,268,498 (GRCm39) |
G300S |
probably benign |
Het |
| Focad |
C |
A |
4: 88,328,914 (GRCm39) |
A1709E |
unknown |
Het |
| Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,813,496 (GRCm39) |
F3272L |
probably benign |
Het |
| Gcnt2 |
G |
A |
13: 41,013,896 (GRCm39) |
M22I |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,928 (GRCm39) |
E50G |
probably damaging |
Het |
| Gm10375 |
G |
T |
14: 43,840,427 (GRCm39) |
T162K |
probably benign |
Het |
| Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
| Gm4924 |
T |
C |
10: 82,215,057 (GRCm39) |
F952L |
unknown |
Het |
| Heatr1 |
T |
C |
13: 12,433,045 (GRCm39) |
F1132L |
possibly damaging |
Het |
| Hnrnpu |
A |
G |
1: 178,159,756 (GRCm39) |
Y442H |
unknown |
Het |
| Hp1bp3 |
C |
A |
4: 137,966,929 (GRCm39) |
T408N |
probably damaging |
Het |
| Htra3 |
A |
G |
5: 35,825,660 (GRCm39) |
V198A |
probably damaging |
Het |
| Katnal1 |
T |
C |
5: 148,828,547 (GRCm39) |
T300A |
probably benign |
Het |
| Lipo5 |
G |
T |
19: 33,445,170 (GRCm39) |
P133Q |
|
Het |
| Lrp1b |
A |
T |
2: 41,660,858 (GRCm39) |
H197Q |
|
Het |
| Mdc1 |
C |
A |
17: 36,156,839 (GRCm39) |
A82D |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,408 (GRCm39) |
D248V |
probably benign |
Het |
| Myo1d |
C |
T |
11: 80,565,460 (GRCm39) |
E426K |
probably damaging |
Het |
| Ola1 |
G |
A |
2: 72,972,308 (GRCm39) |
T221I |
probably damaging |
Het |
| Or52z1 |
A |
G |
7: 103,436,593 (GRCm39) |
I297T |
probably damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,236 (GRCm39) |
Y147C |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,428 (GRCm39) |
S102T |
probably benign |
Het |
| Or8c20 |
T |
A |
9: 38,261,266 (GRCm39) |
Y290N |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,623,201 (GRCm39) |
T618A |
possibly damaging |
Het |
| Pkd1 |
T |
G |
17: 24,810,093 (GRCm39) |
W3565G |
probably damaging |
Het |
| Prl3a1 |
A |
T |
13: 27,460,086 (GRCm39) |
N190I |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Ptpn11 |
C |
T |
5: 121,281,633 (GRCm39) |
R484Q |
probably benign |
Het |
| Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
| Smarcd3 |
G |
T |
5: 24,799,960 (GRCm39) |
A270D |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,272,187 (GRCm39) |
M33T |
|
Het |
| Tle1 |
G |
C |
4: 72,076,612 (GRCm39) |
P139A |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
C |
A |
17: 34,659,856 (GRCm39) |
T93N |
possibly damaging |
Het |
| Zfp658 |
T |
A |
7: 43,223,413 (GRCm39) |
S563T |
probably benign |
Het |
| Zswim9 |
G |
A |
7: 12,993,679 (GRCm39) |
R826C |
probably 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 |
|
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'- CTTCCCCTGGATTGGCTATG -3'
(R):5'- GGGGCCATTCATTAGTCAGAC -3'
Sequencing Primer
(F):5'- CTTTAATCCTAGCACCTGGGAGG -3'
(R):5'- GGCCATTCATTAGTCAGACATGCTTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation