Incidental Mutation 'R1860:Rapgef4'
ID |
203766 |
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 |
039883-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.648)
|
Stock # |
R1860 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
71811584-72087818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72065064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 687
(V687A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028525]
[ENSMUST00000090826]
[ENSMUST00000102698]
|
AlphaFold |
Q9EQZ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028525
AA Change: V687A
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000028525 Gene: ENSMUSG00000049044 AA Change: V687A
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 benign
Transcript: ENSMUST00000090826
AA Change: V831A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000088336 Gene: ENSMUSG00000049044 AA Change: V831A
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 benign
Transcript: ENSMUST00000102698
AA Change: V813A
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000099759 Gene: ENSMUSG00000049044 AA Change: V813A
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: ENSMUST00000128165
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153887
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.7%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
G |
5: 109,884,098 (GRCm39) |
C587R |
probably damaging |
Het |
Abca16 |
T |
A |
7: 120,133,986 (GRCm39) |
S1320T |
probably benign |
Het |
Abra |
C |
A |
15: 41,732,430 (GRCm39) |
R212L |
probably damaging |
Het |
Acadsb |
T |
A |
7: 131,045,958 (GRCm39) |
|
probably null |
Het |
Adam26a |
A |
G |
8: 44,022,578 (GRCm39) |
V304A |
possibly damaging |
Het |
Adgre1 |
T |
C |
17: 57,748,363 (GRCm39) |
V521A |
probably benign |
Het |
Adh5 |
G |
A |
3: 138,159,539 (GRCm39) |
V288I |
probably benign |
Het |
Astn1 |
A |
C |
1: 158,429,515 (GRCm39) |
N753T |
probably damaging |
Het |
Atad2 |
A |
T |
15: 57,960,114 (GRCm39) |
|
probably null |
Het |
Best3 |
A |
G |
10: 116,829,178 (GRCm39) |
T153A |
probably damaging |
Het |
Ccdc122 |
G |
A |
14: 77,348,847 (GRCm39) |
V226I |
probably damaging |
Het |
Ccdc175 |
T |
C |
12: 72,152,700 (GRCm39) |
Q735R |
probably benign |
Het |
Cd19 |
T |
A |
7: 126,008,813 (GRCm39) |
I499F |
probably damaging |
Het |
Cftr |
T |
A |
6: 18,268,288 (GRCm39) |
L749H |
probably benign |
Het |
Clec2h |
G |
T |
6: 128,652,790 (GRCm39) |
G186W |
probably damaging |
Het |
Cpsf3 |
T |
A |
12: 21,346,733 (GRCm39) |
I202N |
probably damaging |
Het |
Crebbp |
G |
T |
16: 3,905,600 (GRCm39) |
T1669N |
possibly damaging |
Het |
Csmd3 |
A |
T |
15: 47,522,588 (GRCm39) |
C2694S |
probably damaging |
Het |
Cul4a |
G |
A |
8: 13,173,565 (GRCm39) |
R204Q |
probably damaging |
Het |
Derl2 |
A |
G |
11: 70,909,169 (GRCm39) |
F43S |
probably damaging |
Het |
Dnah14 |
T |
A |
1: 181,591,525 (GRCm39) |
N3348K |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,353,412 (GRCm39) |
V2855A |
probably benign |
Het |
Dpysl4 |
G |
T |
7: 138,670,215 (GRCm39) |
C27F |
probably benign |
Het |
Fam228b |
G |
A |
12: 4,798,314 (GRCm39) |
A163V |
probably damaging |
Het |
Fscn1 |
T |
C |
5: 142,955,818 (GRCm39) |
|
probably null |
Het |
Fzd5 |
C |
A |
1: 64,774,153 (GRCm39) |
R536L |
probably damaging |
Het |
Gm8180 |
T |
A |
14: 44,021,196 (GRCm39) |
H4L |
probably benign |
Het |
Gpr176 |
T |
A |
2: 118,203,659 (GRCm39) |
N4Y |
probably damaging |
Het |
Grin3a |
T |
C |
4: 49,665,309 (GRCm39) |
I1109V |
possibly damaging |
Het |
Hcar1 |
T |
A |
5: 124,017,092 (GRCm39) |
I200F |
probably damaging |
Het |
Heatr4 |
G |
A |
12: 84,026,502 (GRCm39) |
Q252* |
probably null |
Het |
Hps1 |
G |
A |
19: 42,750,888 (GRCm39) |
H371Y |
probably damaging |
Het |
Ikzf2 |
T |
C |
1: 69,609,661 (GRCm39) |
T195A |
probably damaging |
Het |
Kdm1b |
G |
A |
13: 47,202,666 (GRCm39) |
A34T |
probably benign |
Het |
Lef1 |
A |
G |
3: 130,905,290 (GRCm39) |
N57S |
probably damaging |
Het |
Ltn1 |
A |
T |
16: 87,213,231 (GRCm39) |
D443E |
probably benign |
Het |
Macroh2a1 |
A |
G |
13: 56,231,017 (GRCm39) |
L287P |
probably damaging |
Het |
Mamdc2 |
T |
C |
19: 23,336,517 (GRCm39) |
T331A |
probably damaging |
Het |
Marchf10 |
A |
T |
11: 105,287,904 (GRCm39) |
S133T |
probably damaging |
Het |
Mb |
A |
G |
15: 76,901,784 (GRCm39) |
Y104H |
probably damaging |
Het |
Mrc1 |
C |
A |
2: 14,333,390 (GRCm39) |
P1357Q |
probably benign |
Het |
Nfib |
C |
T |
4: 82,241,917 (GRCm39) |
V425M |
probably damaging |
Het |
Or12j2 |
G |
A |
7: 139,916,132 (GRCm39) |
R119H |
possibly damaging |
Het |
Or4a27 |
T |
G |
2: 88,559,674 (GRCm39) |
I90L |
probably damaging |
Het |
Or4b1b |
C |
A |
2: 90,112,502 (GRCm39) |
C139F |
probably damaging |
Het |
Or4c127 |
G |
A |
2: 89,833,490 (GRCm39) |
V247I |
probably benign |
Het |
Or4n4 |
A |
T |
14: 50,518,848 (GRCm39) |
Y287* |
probably null |
Het |
Or52u1 |
T |
C |
7: 104,237,112 (GRCm39) |
S34P |
probably damaging |
Het |
Or5b113 |
T |
A |
19: 13,342,705 (GRCm39) |
S238T |
possibly damaging |
Het |
Or5p53 |
A |
G |
7: 107,533,597 (GRCm39) |
Y290C |
probably damaging |
Het |
Or6c208 |
T |
C |
10: 129,223,955 (GRCm39) |
F151S |
probably damaging |
Het |
Or8b51 |
A |
T |
9: 38,569,661 (GRCm39) |
V9E |
probably damaging |
Het |
Phaf1 |
A |
G |
8: 105,966,703 (GRCm39) |
E150G |
probably null |
Het |
Piezo1 |
T |
C |
8: 123,222,489 (GRCm39) |
N919S |
possibly damaging |
Het |
Prkaca |
T |
C |
8: 84,707,852 (GRCm39) |
S46P |
probably benign |
Het |
Prkcb |
T |
G |
7: 122,167,424 (GRCm39) |
V378G |
probably damaging |
Het |
Ptprf |
A |
T |
4: 118,081,129 (GRCm39) |
L576Q |
probably damaging |
Het |
Rsad2 |
C |
T |
12: 26,500,616 (GRCm39) |
V224I |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,708,977 (GRCm39) |
D4796E |
unknown |
Het |
Scn1a |
C |
T |
2: 66,148,326 (GRCm39) |
S1073N |
probably damaging |
Het |
Slc26a3 |
A |
G |
12: 31,515,845 (GRCm39) |
M582V |
probably benign |
Het |
Tbc1d32 |
A |
T |
10: 55,999,633 (GRCm39) |
Y846* |
probably null |
Het |
Tbk1 |
A |
T |
10: 121,383,076 (GRCm39) |
M719K |
probably benign |
Het |
Timeless |
A |
G |
10: 128,081,983 (GRCm39) |
K536R |
probably benign |
Het |
Tle6 |
G |
T |
10: 81,430,163 (GRCm39) |
Q330K |
probably damaging |
Het |
Tmem208 |
A |
G |
8: 106,061,438 (GRCm39) |
K155E |
possibly damaging |
Het |
Toe1 |
T |
C |
4: 116,662,426 (GRCm39) |
Y273C |
probably damaging |
Het |
Tppp2 |
A |
C |
14: 52,158,062 (GRCm39) |
N169T |
probably benign |
Het |
Ttll6 |
T |
A |
11: 96,029,700 (GRCm39) |
Y204* |
probably null |
Het |
Ubxn11 |
G |
A |
4: 133,852,149 (GRCm39) |
S32N |
probably damaging |
Het |
Usp8 |
G |
A |
2: 126,597,960 (GRCm39) |
C961Y |
probably damaging |
Het |
Vdac3 |
A |
T |
8: 23,070,515 (GRCm39) |
I132K |
possibly damaging |
Het |
Vmn2r124 |
G |
T |
17: 18,269,759 (GRCm39) |
W5L |
probably benign |
Het |
Vmn2r71 |
A |
T |
7: 85,264,782 (GRCm39) |
D38V |
probably damaging |
Het |
Vmn2r87 |
C |
T |
10: 130,315,755 (GRCm39) |
V104I |
probably benign |
Het |
Vmn2r97 |
C |
T |
17: 19,167,648 (GRCm39) |
T634I |
probably benign |
Het |
Vps50 |
T |
C |
6: 3,520,279 (GRCm39) |
|
probably null |
Het |
Wwc2 |
T |
C |
8: 48,443,137 (GRCm39) |
N32S |
possibly damaging |
Het |
Ythdc2 |
T |
A |
18: 45,006,023 (GRCm39) |
I1172K |
possibly damaging |
Het |
Zfp14 |
C |
T |
7: 29,738,116 (GRCm39) |
V290M |
probably damaging |
Het |
Zfp317 |
G |
A |
9: 19,553,280 (GRCm39) |
A18T |
possibly damaging |
Het |
Zfp354b |
A |
T |
11: 50,814,369 (GRCm39) |
N185K |
probably benign |
Het |
Zscan21 |
T |
A |
5: 138,124,892 (GRCm39) |
D269E |
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 |
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 |
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'- AGCGATTGAATTCACATCTGCTG -3'
(R):5'- AACTGCTGGTTGTTCTTACACC -3'
Sequencing Primer
(F):5'- CTTTCCTGACAAACGGAGGAGC -3'
(R):5'- ACACCCGTTTCTCTTTGTAAGGTG -3'
|
Posted On |
2014-06-23 |