Incidental Mutation 'R6192:Rapgef4'
ID |
502617 |
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 |
044332-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.645)
|
Stock # |
R6192 (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 71811661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 11
(S11P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090826]
[ENSMUST00000102698]
|
AlphaFold |
Q9EQZ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090826
AA Change: S11P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000088336 Gene: ENSMUSG00000049044 AA Change: S11P
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: S11P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000099759 Gene: ENSMUSG00000049044 AA Change: S11P
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: ENSMUST00000149421
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150234
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (75/75) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,774,002 (GRCm39) |
E1137G |
probably damaging |
Het |
Adcy9 |
T |
C |
16: 4,105,818 (GRCm39) |
I1099V |
probably benign |
Het |
Angptl4 |
A |
T |
17: 33,996,015 (GRCm39) |
N320K |
probably benign |
Het |
Atp6v0a2 |
G |
A |
5: 124,767,268 (GRCm39) |
M10I |
probably benign |
Het |
Bltp1 |
C |
T |
3: 37,042,318 (GRCm39) |
T2768I |
probably benign |
Het |
Cbfa2t3 |
A |
G |
8: 123,361,135 (GRCm39) |
S395P |
probably benign |
Het |
Cenpe |
C |
T |
3: 134,954,291 (GRCm39) |
T1716I |
possibly damaging |
Het |
Chsy1 |
T |
C |
7: 65,820,625 (GRCm39) |
Y287H |
probably benign |
Het |
Col4a4 |
G |
T |
1: 82,462,151 (GRCm39) |
P1075T |
probably damaging |
Het |
Cryab |
T |
A |
9: 50,665,813 (GRCm39) |
M68K |
probably damaging |
Het |
Cybrd1 |
T |
A |
2: 70,967,858 (GRCm39) |
L143Q |
probably null |
Het |
Dcaf7 |
T |
C |
11: 105,942,584 (GRCm39) |
V177A |
probably damaging |
Het |
Dclk2 |
T |
C |
3: 86,722,457 (GRCm39) |
Y392C |
probably damaging |
Het |
Ddx20 |
T |
C |
3: 105,586,036 (GRCm39) |
T770A |
probably benign |
Het |
Dennd1b |
T |
A |
1: 139,095,456 (GRCm39) |
D501E |
probably benign |
Het |
Dgkh |
A |
T |
14: 78,865,504 (GRCm39) |
Y26* |
probably null |
Het |
Dnajc2 |
A |
G |
5: 21,973,646 (GRCm39) |
V196A |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,806,362 (GRCm39) |
K827E |
probably damaging |
Het |
Fam8a1 |
C |
T |
13: 46,823,099 (GRCm39) |
P13L |
probably damaging |
Het |
Gfra3 |
T |
C |
18: 34,837,582 (GRCm39) |
S139G |
possibly damaging |
Het |
Ggnbp1 |
G |
A |
17: 27,248,847 (GRCm39) |
V139I |
possibly damaging |
Het |
Gja1 |
T |
A |
10: 56,264,330 (GRCm39) |
Y230N |
probably damaging |
Het |
Gldc |
A |
G |
19: 30,111,172 (GRCm39) |
S535P |
probably damaging |
Het |
Gm45871 |
A |
G |
18: 90,610,357 (GRCm39) |
T532A |
probably benign |
Het |
Gm5431 |
T |
A |
11: 48,785,220 (GRCm39) |
D107V |
probably benign |
Het |
Herc2 |
C |
T |
7: 55,857,510 (GRCm39) |
T4031M |
probably damaging |
Het |
Iffo2 |
G |
A |
4: 139,333,769 (GRCm39) |
A282T |
probably damaging |
Het |
Ifi44 |
T |
G |
3: 151,451,276 (GRCm39) |
|
probably null |
Het |
Igkv4-53 |
C |
T |
6: 69,625,915 (GRCm39) |
R62H |
possibly damaging |
Het |
Lrp11 |
A |
C |
10: 7,474,454 (GRCm39) |
|
probably null |
Het |
Lrp4 |
A |
G |
2: 91,338,833 (GRCm39) |
T1755A |
probably benign |
Het |
Mcm3ap |
A |
T |
10: 76,336,934 (GRCm39) |
K1316M |
probably damaging |
Het |
Mctp1 |
T |
G |
13: 76,971,082 (GRCm39) |
|
probably null |
Het |
Mroh5 |
A |
T |
15: 73,662,630 (GRCm39) |
I396N |
probably damaging |
Het |
Mrps5 |
T |
A |
2: 127,443,305 (GRCm39) |
H294Q |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,569,985 (GRCm39) |
S845T |
unknown |
Het |
Mycbpap |
A |
T |
11: 94,398,557 (GRCm39) |
V474E |
probably damaging |
Het |
Mzt2 |
G |
C |
16: 15,666,551 (GRCm39) |
S122W |
probably benign |
Het |
Neb |
T |
C |
2: 52,146,802 (GRCm39) |
I2821V |
probably benign |
Het |
Ngef |
A |
T |
1: 87,415,622 (GRCm39) |
D347E |
probably damaging |
Het |
Nlrp14 |
T |
C |
7: 106,781,646 (GRCm39) |
V281A |
probably benign |
Het |
Obscn |
A |
T |
11: 58,888,864 (GRCm39) |
Y7597N |
unknown |
Het |
Or4k47 |
T |
C |
2: 111,451,520 (GRCm39) |
R300G |
possibly damaging |
Het |
Patj |
G |
T |
4: 98,344,394 (GRCm39) |
G569W |
probably damaging |
Het |
Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
Phf2 |
T |
A |
13: 48,973,583 (GRCm39) |
T361S |
unknown |
Het |
Pik3r6 |
A |
G |
11: 68,434,455 (GRCm39) |
E552G |
probably damaging |
Het |
Pitx2 |
A |
G |
3: 129,009,521 (GRCm39) |
T147A |
probably benign |
Het |
Pkmyt1 |
G |
A |
17: 23,953,167 (GRCm39) |
G241D |
probably damaging |
Het |
Pola2 |
A |
T |
19: 6,003,802 (GRCm39) |
V191D |
possibly damaging |
Het |
Ralgapb |
T |
A |
2: 158,291,367 (GRCm39) |
|
probably null |
Het |
Rnf10 |
G |
A |
5: 115,395,136 (GRCm39) |
R151C |
probably damaging |
Het |
Rpl34 |
G |
A |
3: 130,522,716 (GRCm39) |
P50L |
probably benign |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Sbno2 |
A |
T |
10: 79,895,850 (GRCm39) |
L977Q |
probably damaging |
Het |
Sec14l3 |
G |
A |
11: 4,025,566 (GRCm39) |
|
probably null |
Het |
Serping1 |
A |
T |
2: 84,600,612 (GRCm39) |
N243K |
possibly damaging |
Het |
Slco2b1 |
T |
A |
7: 99,334,779 (GRCm39) |
I231F |
probably damaging |
Het |
Spag8 |
A |
G |
4: 43,652,458 (GRCm39) |
F294S |
probably damaging |
Het |
Speer4f1 |
G |
A |
5: 17,684,493 (GRCm39) |
A174T |
probably damaging |
Het |
Spred3 |
T |
C |
7: 28,862,402 (GRCm39) |
D147G |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,527,241 (GRCm39) |
D1166G |
probably damaging |
Het |
Svep1 |
G |
T |
4: 58,104,536 (GRCm39) |
T1229K |
possibly damaging |
Het |
Tanc1 |
T |
A |
2: 59,669,305 (GRCm39) |
|
probably null |
Het |
Tmem232 |
T |
C |
17: 65,737,800 (GRCm39) |
Y420C |
probably damaging |
Het |
Tubd1 |
A |
T |
11: 86,448,619 (GRCm39) |
M311L |
probably benign |
Het |
Tulp3 |
G |
A |
6: 128,332,703 (GRCm39) |
|
probably null |
Het |
Usp42 |
T |
C |
5: 143,702,942 (GRCm39) |
T560A |
possibly damaging |
Het |
Vmn1r170 |
A |
T |
7: 23,305,934 (GRCm39) |
Y112F |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,322,699 (GRCm39) |
C7S |
probably benign |
Het |
Wrn |
A |
G |
8: 33,774,682 (GRCm39) |
M652T |
probably benign |
Het |
Wsb1 |
G |
A |
11: 79,139,336 (GRCm39) |
P120L |
possibly damaging |
Het |
Zfp142 |
T |
C |
1: 74,609,667 (GRCm39) |
E1376G |
probably damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
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 |
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 |
|
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'- AATATATAGAGTCTGACATCCCCTCC -3'
(R):5'- CATGAATGGAGCGTGGAGTC -3'
Sequencing Primer
(F):5'- TGGCATCGCAGCAGAACTC -3'
(R):5'- GTGGAGTCGCAGCGGGG -3'
|
Posted On |
2018-02-27 |