Incidental Mutation 'R7770:Rapgef4'
| ID |
598508 |
| 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 |
045826-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.648)
|
| Stock # |
R7770 (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 A
at 72028739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 385
(N385K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028525]
[ENSMUST00000090826]
[ENSMUST00000102698]
|
| AlphaFold |
Q9EQZ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028525
AA Change: N259K
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028525
Gene: ENSMUSG00000049044
AA Change: N259K
| 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: N403K
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044
AA Change: N403K
| 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: N385K
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044
AA Change: N385K
| 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: ENSMUST00000122975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156031
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (55/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,165,894 (GRCm39) |
V160E |
probably damaging |
Het |
| Abhd8 |
C |
T |
8: 71,910,894 (GRCm39) |
G305S |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,231,579 (GRCm39) |
V870A |
probably benign |
Het |
| Agl |
A |
G |
3: 116,551,886 (GRCm39) |
|
probably null |
Het |
| Cav3 |
A |
T |
6: 112,449,147 (GRCm39) |
D55V |
probably damaging |
Het |
| Ccser2 |
T |
A |
14: 36,648,831 (GRCm39) |
D556V |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,193 (GRCm39) |
Y254H |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,317,223 (GRCm39) |
L182S |
probably damaging |
Het |
| Cyp1b1 |
G |
A |
17: 80,020,728 (GRCm39) |
A338V |
probably damaging |
Het |
| Def8 |
C |
A |
8: 124,186,798 (GRCm39) |
D459E |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,943,214 (GRCm39) |
Y554C |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,665,460 (GRCm39) |
|
probably null |
Het |
| Dnajc5b |
T |
A |
3: 19,633,181 (GRCm39) |
C135S |
probably benign |
Het |
| Dnpep |
G |
A |
1: 75,293,890 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
C |
T |
5: 30,507,856 (GRCm39) |
Q293* |
probably null |
Het |
| Glmp |
A |
G |
3: 88,233,077 (GRCm39) |
S72G |
probably benign |
Het |
| Gm5431 |
A |
T |
11: 48,779,285 (GRCm39) |
S546T |
probably benign |
Het |
| Gnptab |
T |
A |
10: 88,247,782 (GRCm39) |
C70S |
probably benign |
Het |
| Gpr83 |
G |
A |
9: 14,778,170 (GRCm39) |
R180Q |
probably damaging |
Het |
| Gucy1a1 |
A |
T |
3: 82,016,112 (GRCm39) |
L292Q |
possibly damaging |
Het |
| Gzmd |
T |
C |
14: 56,368,720 (GRCm39) |
D58G |
probably damaging |
Het |
| Hoxa10 |
A |
G |
6: 52,211,245 (GRCm39) |
S224P |
possibly damaging |
Het |
| Hoxa13 |
G |
A |
6: 52,237,247 (GRCm39) |
|
probably benign |
Het |
| Igsf6 |
A |
G |
7: 120,667,548 (GRCm39) |
V156A |
probably benign |
Het |
| Il6st |
A |
T |
13: 112,639,338 (GRCm39) |
I649F |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,131,147 (GRCm39) |
V507M |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,307,899 (GRCm39) |
I253T |
probably damaging |
Het |
| Met |
T |
A |
6: 17,491,406 (GRCm39) |
V56D |
possibly damaging |
Het |
| Mettl22 |
A |
T |
16: 8,303,764 (GRCm39) |
I277F |
possibly damaging |
Het |
| Nadsyn1 |
G |
A |
7: 143,359,740 (GRCm39) |
R411W |
probably damaging |
Het |
| Nrros |
T |
G |
16: 31,962,346 (GRCm39) |
E557A |
probably benign |
Het |
| Or10ak14 |
A |
T |
4: 118,611,254 (GRCm39) |
H162Q |
probably benign |
Het |
| Or5w1 |
T |
C |
2: 87,486,813 (GRCm39) |
I151V |
not run |
Het |
| Or8j3b |
C |
T |
2: 86,205,604 (GRCm39) |
V51M |
possibly damaging |
Het |
| Pih1d2 |
G |
A |
9: 50,533,101 (GRCm39) |
R243Q |
not run |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,977 (GRCm39) |
V90A |
probably benign |
Het |
| Prmt9 |
T |
A |
8: 78,285,814 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
G |
A |
6: 29,164,627 (GRCm39) |
|
probably benign |
Het |
| Rhobtb3 |
A |
T |
13: 76,065,934 (GRCm39) |
S150T |
probably damaging |
Het |
| Serpinb6b |
T |
C |
13: 33,161,512 (GRCm39) |
V195A |
probably benign |
Het |
| Sesn1 |
T |
A |
10: 41,770,054 (GRCm39) |
I99N |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,296,815 (GRCm39) |
|
probably benign |
Het |
| Slc22a19 |
T |
A |
19: 7,681,360 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,640,123 (GRCm39) |
I305T |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 74,884,687 (GRCm39) |
N3K |
unknown |
Het |
| Spta1 |
C |
A |
1: 174,023,547 (GRCm39) |
Y651* |
probably null |
Het |
| Tatdn3 |
G |
A |
1: 190,791,053 (GRCm39) |
P74S |
probably benign |
Het |
| Tet2 |
C |
T |
3: 133,186,056 (GRCm39) |
R1127Q |
possibly damaging |
Het |
| Tgfbi |
T |
A |
13: 56,780,657 (GRCm39) |
|
probably null |
Het |
| Tmprss9 |
A |
G |
10: 80,733,903 (GRCm39) |
|
probably null |
Het |
| Tox4 |
T |
C |
14: 52,517,299 (GRCm39) |
Y10H |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,046,679 (GRCm39) |
S407T |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,336 (GRCm39) |
C24R |
probably damaging |
Het |
| Wdr24 |
C |
A |
17: 26,046,070 (GRCm39) |
A465D |
probably benign |
Het |
| Wfdc8 |
A |
G |
2: 164,439,594 (GRCm39) |
S263P |
unknown |
Het |
| Zc3h15 |
T |
A |
2: 83,488,476 (GRCm39) |
I138N |
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 |
|
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'- CGTAACTCTGGAGCCTGAAAG -3'
(R):5'- ACTGTGTCTGTAAGTGGACTAC -3'
Sequencing Primer
(F):5'- CTCTGGAGCCTGAAAGCGATG -3'
(R):5'- TGACTCTGAGTGCAATAATTGAGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation