Incidental Mutation 'R6084:Rapgef4'
| ID |
482352 |
| 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 |
044243-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.645)
|
| Stock # |
R6084 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
71811584-72087818 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 72026622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028525]
[ENSMUST00000090826]
[ENSMUST00000102698]
|
| AlphaFold |
Q9EQZ6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028525
|
| SMART Domains |
Protein: ENSMUSP00000028525
Gene: ENSMUSG00000049044
| 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 null
Transcript: ENSMUST00000090826
|
| SMART Domains |
Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044
| 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 null
Transcript: ENSMUST00000102698
|
| SMART Domains |
Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
C |
5: 62,828,297 (GRCm39) |
D958G |
possibly damaging |
Het |
| Bag4 |
T |
C |
8: 26,261,259 (GRCm39) |
T161A |
probably benign |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,374,720 (GRCm39) |
|
probably null |
Het |
| Cass4 |
G |
T |
2: 172,268,832 (GRCm39) |
A307S |
probably benign |
Het |
| Cbln4 |
A |
T |
2: 171,884,016 (GRCm39) |
V68E |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,826,015 (GRCm39) |
N2K |
probably benign |
Het |
| Ccnf |
T |
A |
17: 24,450,811 (GRCm39) |
D389V |
probably damaging |
Het |
| Cdipt |
T |
C |
7: 126,578,773 (GRCm39) |
S161P |
probably benign |
Het |
| Ceacam19 |
T |
C |
7: 19,616,812 (GRCm39) |
I161V |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,959,564 (GRCm39) |
I862T |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,652,019 (GRCm39) |
L230Q |
probably benign |
Het |
| Chac2 |
G |
A |
11: 30,936,159 (GRCm39) |
R30W |
probably damaging |
Het |
| Cmc2 |
G |
A |
8: 117,616,566 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
A |
T |
6: 4,505,840 (GRCm39) |
M1L |
probably benign |
Het |
| Cox8a |
C |
A |
19: 7,194,783 (GRCm39) |
R32L |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,435,708 (GRCm39) |
N1083Y |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,504 (GRCm39) |
D132G |
probably damaging |
Het |
| Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
| Dnaaf3 |
T |
C |
7: 4,527,212 (GRCm39) |
D358G |
probably benign |
Het |
| Dysf |
T |
A |
6: 83,996,586 (GRCm39) |
F29L |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,089,101 (GRCm39) |
L888P |
probably damaging |
Het |
| Ebf4 |
A |
G |
2: 130,151,643 (GRCm39) |
D277G |
probably damaging |
Het |
| Ecm2 |
T |
A |
13: 49,668,570 (GRCm39) |
L91* |
probably null |
Het |
| Foxs1 |
T |
C |
2: 152,774,762 (GRCm39) |
D97G |
possibly damaging |
Het |
| Frs2 |
A |
C |
10: 116,912,714 (GRCm39) |
|
probably null |
Het |
| Grp |
A |
T |
18: 66,013,008 (GRCm39) |
D58V |
probably damaging |
Het |
| Hif1a |
T |
G |
12: 73,988,616 (GRCm39) |
F537C |
probably damaging |
Het |
| Icam4 |
G |
A |
9: 20,940,835 (GRCm39) |
S29N |
probably benign |
Het |
| Itfg1 |
T |
C |
8: 86,452,799 (GRCm39) |
E523G |
probably benign |
Het |
| Jph2 |
T |
C |
2: 163,217,600 (GRCm39) |
K359E |
probably damaging |
Het |
| Katnip |
G |
A |
7: 125,414,037 (GRCm39) |
G394R |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,729,449 (GRCm39) |
V490E |
possibly damaging |
Het |
| Klhl18 |
C |
T |
9: 110,257,795 (GRCm39) |
M548I |
possibly damaging |
Het |
| Lpin3 |
A |
G |
2: 160,737,721 (GRCm39) |
Y197C |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,396,422 (GRCm39) |
N2381D |
probably benign |
Het |
| Man1a |
A |
T |
10: 53,795,307 (GRCm39) |
W649R |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,893,360 (GRCm39) |
L542P |
probably damaging |
Het |
| Mboat2 |
A |
T |
12: 24,928,284 (GRCm39) |
H52L |
probably damaging |
Het |
| Mok |
C |
G |
12: 110,781,380 (GRCm39) |
S91T |
probably benign |
Het |
| Mtmr11 |
G |
T |
3: 96,075,400 (GRCm39) |
R360L |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Ncoa4-ps |
A |
G |
12: 119,225,386 (GRCm39) |
|
noncoding transcript |
Het |
| Or1j13 |
A |
G |
2: 36,369,524 (GRCm39) |
V206A |
probably benign |
Het |
| Or4g7 |
A |
T |
2: 111,309,734 (GRCm39) |
N202Y |
probably damaging |
Het |
| Or52z1 |
C |
T |
7: 103,437,162 (GRCm39) |
M107I |
probably benign |
Het |
| Or55b4 |
T |
C |
7: 102,133,596 (GRCm39) |
T244A |
probably damaging |
Het |
| Or7d11 |
A |
T |
9: 19,966,179 (GRCm39) |
H75Q |
possibly damaging |
Het |
| Or7g21 |
A |
G |
9: 19,032,623 (GRCm39) |
D121G |
probably damaging |
Het |
| Padi3 |
G |
T |
4: 140,523,154 (GRCm39) |
T292N |
probably damaging |
Het |
| Pard6g |
A |
C |
18: 80,160,420 (GRCm39) |
T178P |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,740,726 (GRCm39) |
Y2124N |
probably damaging |
Het |
| Plxdc1 |
G |
A |
11: 97,819,289 (GRCm39) |
T398I |
probably damaging |
Het |
| Prickle2 |
A |
T |
6: 92,393,829 (GRCm39) |
C225* |
probably null |
Het |
| Prmt2 |
G |
A |
10: 76,046,278 (GRCm39) |
T317I |
probably benign |
Het |
| Psg22 |
T |
G |
7: 18,453,705 (GRCm39) |
N172K |
probably benign |
Het |
| Ptpn9 |
C |
T |
9: 56,940,447 (GRCm39) |
R196* |
probably null |
Het |
| Rap1b |
C |
T |
10: 117,660,516 (GRCm39) |
V14I |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,006,412 (GRCm39) |
M856K |
possibly damaging |
Het |
| Rnf149 |
A |
G |
1: 39,616,255 (GRCm39) |
L34P |
probably benign |
Het |
| Rock1 |
T |
C |
18: 10,101,007 (GRCm39) |
E636G |
probably benign |
Het |
| Rsad2 |
A |
T |
12: 26,504,122 (GRCm39) |
Y136N |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,738,838 (GRCm39) |
H563R |
probably damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,680,110 (GRCm39) |
M102V |
probably benign |
Het |
| Slc34a2 |
T |
A |
5: 53,224,989 (GRCm39) |
C377S |
possibly damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,492,496 (GRCm39) |
V293A |
probably benign |
Het |
| Spidr |
A |
T |
16: 15,957,888 (GRCm39) |
S80T |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 5,298,994 (GRCm39) |
E1031K |
probably damaging |
Het |
| Synj2 |
G |
A |
17: 6,067,889 (GRCm39) |
V121I |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,088,373 (GRCm39) |
T1430S |
probably damaging |
Het |
| Tecpr2 |
G |
T |
12: 110,895,543 (GRCm39) |
K343N |
probably damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,164 (GRCm39) |
I986F |
probably benign |
Het |
| Trib1 |
G |
A |
15: 59,526,324 (GRCm39) |
R298H |
probably damaging |
Het |
| Ttll10 |
T |
A |
4: 156,129,814 (GRCm39) |
D283V |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,645,123 (GRCm39) |
K673* |
probably null |
Het |
| Ubqlnl |
T |
A |
7: 103,797,905 (GRCm39) |
M531L |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,832,721 (GRCm39) |
W153R |
probably benign |
Het |
| Vmn2r2 |
A |
C |
3: 64,024,467 (GRCm39) |
S705A |
probably benign |
Het |
| Vmn2r32 |
T |
A |
7: 7,467,209 (GRCm39) |
D773V |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,366,205 (GRCm39) |
Q243L |
probably damaging |
Het |
| Wdr24 |
C |
A |
17: 26,043,504 (GRCm39) |
R109S |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,143,930 (GRCm39) |
M107V |
probably benign |
Het |
| Zfp426 |
G |
T |
9: 20,381,923 (GRCm39) |
Q341K |
possibly damaging |
Het |
| Zfp616 |
A |
T |
11: 73,974,672 (GRCm39) |
K314* |
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 |
|
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 |
|
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'- TGTGATAGATAACTTTAGGCGAGCC -3'
(R):5'- CAGGATGGAATAGTCACGAGTCC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation