Incidental Mutation 'IGL02134:Rapgef4'
ID |
281244 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rapgef4
|
Ensembl Gene |
ENSMUSG00000049044 |
Gene Name |
Rap guanine nucleotide exchange factor (GEF) 4 |
Synonyms |
5730402K07Rik, 6330581N18Rik, Epac2, cAMP-GEFII, 1300003D15Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.648)
|
Stock # |
IGL02134
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
71811584-72087818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 72010405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 177
(Q177P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028525]
[ENSMUST00000090826]
[ENSMUST00000102698]
|
AlphaFold |
Q9EQZ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028525
AA Change: Q177P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000028525 Gene: ENSMUSG00000049044 AA Change: Q177P
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: Q321P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000088336 Gene: ENSMUSG00000049044 AA Change: Q321P
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: Q303P
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099759 Gene: ENSMUSG00000049044 AA Change: Q303P
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
|
Coding Region Coverage |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
T |
C |
17: 42,980,581 (GRCm39) |
N168S |
probably damaging |
Het |
Angptl3 |
A |
T |
4: 98,919,349 (GRCm39) |
R36S |
probably damaging |
Het |
Ap5z1 |
T |
C |
5: 142,460,214 (GRCm39) |
F514L |
probably benign |
Het |
Arhgef39 |
C |
A |
4: 43,497,578 (GRCm39) |
|
probably null |
Het |
Aste1 |
A |
G |
9: 105,275,043 (GRCm39) |
S11G |
probably damaging |
Het |
Cadm4 |
T |
C |
7: 24,198,986 (GRCm39) |
V87A |
probably benign |
Het |
Cd177 |
A |
G |
7: 24,451,777 (GRCm39) |
I413T |
probably benign |
Het |
Col5a2 |
A |
G |
1: 45,430,230 (GRCm39) |
|
probably null |
Het |
Dera |
C |
T |
6: 137,807,269 (GRCm39) |
A239V |
probably damaging |
Het |
Ecm1 |
T |
C |
3: 95,643,499 (GRCm39) |
E283G |
probably damaging |
Het |
Eml6 |
G |
T |
11: 29,709,066 (GRCm39) |
H24N |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,811,240 (GRCm39) |
K1425E |
possibly damaging |
Het |
Fgd3 |
G |
A |
13: 49,450,225 (GRCm39) |
S8L |
possibly damaging |
Het |
Gli1 |
T |
C |
10: 127,172,369 (GRCm39) |
E228G |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,990,771 (GRCm39) |
|
probably benign |
Het |
Iqcc |
A |
G |
4: 129,512,818 (GRCm39) |
S11P |
probably damaging |
Het |
Itpkc |
G |
A |
7: 26,927,300 (GRCm39) |
Q205* |
probably null |
Het |
Jmjd1c |
T |
A |
10: 67,056,171 (GRCm39) |
S530R |
possibly damaging |
Het |
Kcnq1 |
A |
G |
7: 142,737,453 (GRCm39) |
H257R |
possibly damaging |
Het |
Kcnt2 |
G |
A |
1: 140,304,121 (GRCm39) |
V164I |
probably benign |
Het |
Lgr5 |
T |
C |
10: 115,288,763 (GRCm39) |
H603R |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,343,723 (GRCm39) |
|
probably null |
Het |
Lrrn2 |
A |
G |
1: 132,865,555 (GRCm39) |
M207V |
possibly damaging |
Het |
Miip |
A |
G |
4: 147,949,735 (GRCm39) |
|
probably benign |
Het |
Mrps35 |
T |
C |
6: 146,949,808 (GRCm39) |
|
probably benign |
Het |
Nuf2 |
A |
T |
1: 169,341,069 (GRCm39) |
M184K |
probably benign |
Het |
Or10q1 |
C |
A |
19: 13,727,165 (GRCm39) |
R232S |
probably benign |
Het |
Or14j2 |
C |
T |
17: 37,886,249 (GRCm39) |
E22K |
probably benign |
Het |
Or2f2 |
A |
G |
6: 42,767,398 (GRCm39) |
T142A |
probably benign |
Het |
Or4a15 |
A |
T |
2: 89,193,172 (GRCm39) |
N200K |
probably damaging |
Het |
Or8g32 |
A |
T |
9: 39,305,830 (GRCm39) |
I248F |
probably damaging |
Het |
Os9 |
T |
C |
10: 126,956,861 (GRCm39) |
I42V |
possibly damaging |
Het |
Rhpn2 |
T |
C |
7: 35,070,536 (GRCm39) |
|
probably benign |
Het |
Scn5a |
T |
C |
9: 119,314,958 (GRCm39) |
R1916G |
probably damaging |
Het |
Serpine1 |
T |
A |
5: 137,095,889 (GRCm39) |
|
probably benign |
Het |
Snd1 |
C |
T |
6: 28,880,278 (GRCm39) |
P684L |
possibly damaging |
Het |
Tgds |
T |
C |
14: 118,350,534 (GRCm39) |
N340D |
probably benign |
Het |
Trpc4 |
A |
T |
3: 54,223,075 (GRCm39) |
Y706F |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,584,166 (GRCm39) |
D22314V |
probably damaging |
Het |
Utrn |
G |
A |
10: 12,519,163 (GRCm39) |
T2263I |
probably damaging |
Het |
Vmn1r11 |
A |
T |
6: 57,115,022 (GRCm39) |
T229S |
possibly damaging |
Het |
Zfp142 |
T |
G |
1: 74,609,022 (GRCm39) |
H1488P |
probably damaging |
Het |
Zfp219 |
A |
G |
14: 52,246,758 (GRCm39) |
L78P |
probably damaging |
Het |
Zfp629 |
T |
A |
7: 127,211,042 (GRCm39) |
T256S |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |