Incidental Mutation 'R1302:Rapgef4'
ID |
158405 |
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 |
039368-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.648)
|
Stock # |
R1302 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
71811584-72087818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 71875504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 119
(D119V)
|
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: D119V
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000088336 Gene: ENSMUSG00000049044 AA Change: D119V
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: D119V
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099759 Gene: ENSMUSG00000049044 AA Change: D119V
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: ENSMUST00000150234
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.2%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
A |
T |
8: 125,566,607 (GRCm39) |
I271N |
probably damaging |
Het |
5031439G07Rik |
A |
G |
15: 84,837,477 (GRCm39) |
Y279H |
probably damaging |
Het |
Abcg2 |
T |
A |
6: 58,662,802 (GRCm39) |
M548K |
probably damaging |
Het |
Acat1 |
T |
C |
9: 53,500,525 (GRCm39) |
D257G |
possibly damaging |
Het |
Adamts4 |
G |
A |
1: 171,080,752 (GRCm39) |
G360R |
probably damaging |
Het |
Akr1c12 |
T |
C |
13: 4,322,328 (GRCm39) |
D238G |
probably damaging |
Het |
Ankrd1 |
C |
T |
19: 36,092,403 (GRCm39) |
G275S |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,480,890 (GRCm39) |
M1K |
probably null |
Het |
Atf7ip2 |
T |
C |
16: 10,058,472 (GRCm39) |
S304P |
possibly damaging |
Het |
Casp4 |
T |
A |
9: 5,328,518 (GRCm39) |
C333* |
probably null |
Het |
Ccdc68 |
G |
A |
18: 70,072,033 (GRCm39) |
V37M |
probably damaging |
Het |
Cda |
T |
A |
4: 138,078,502 (GRCm39) |
I87F |
probably damaging |
Het |
Chst1 |
A |
T |
2: 92,443,864 (GRCm39) |
D112V |
probably damaging |
Het |
Chtf18 |
T |
C |
17: 25,938,132 (GRCm39) |
D967G |
probably damaging |
Het |
Col5a1 |
A |
G |
2: 27,895,248 (GRCm39) |
R1106G |
probably damaging |
Het |
Coro1b |
T |
G |
19: 4,199,376 (GRCm39) |
F12V |
probably damaging |
Het |
Ctif |
G |
T |
18: 75,654,749 (GRCm39) |
P259Q |
probably benign |
Het |
Duox1 |
A |
T |
2: 122,177,760 (GRCm39) |
I1515F |
probably benign |
Het |
Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
Flt1 |
A |
G |
5: 147,501,050 (GRCm39) |
Y1328H |
possibly damaging |
Het |
Frem2 |
T |
C |
3: 53,562,959 (GRCm39) |
D516G |
probably benign |
Het |
Gin1 |
A |
T |
1: 97,703,314 (GRCm39) |
K46* |
probably null |
Het |
Gle1 |
C |
G |
2: 29,842,564 (GRCm39) |
|
probably null |
Het |
Gm11146 |
T |
G |
16: 77,398,970 (GRCm39) |
I5L |
unknown |
Het |
Gpr153 |
C |
T |
4: 152,364,400 (GRCm39) |
T152M |
probably damaging |
Het |
H1f8 |
A |
T |
6: 115,924,610 (GRCm39) |
R39* |
probably null |
Het |
Hdlbp |
A |
T |
1: 93,351,107 (GRCm39) |
|
probably null |
Het |
Ifi207 |
A |
T |
1: 173,562,861 (GRCm39) |
L95Q |
possibly damaging |
Het |
Ikzf3 |
G |
T |
11: 98,407,746 (GRCm39) |
P32T |
probably benign |
Het |
Ints10 |
T |
A |
8: 69,279,964 (GRCm39) |
V697E |
probably damaging |
Het |
Krt14 |
A |
G |
11: 100,094,173 (GRCm39) |
S474P |
probably damaging |
Het |
L3mbtl3 |
T |
A |
10: 26,203,667 (GRCm39) |
I388F |
unknown |
Het |
Ldha |
A |
C |
7: 46,497,063 (GRCm39) |
Q7P |
probably damaging |
Het |
Lrwd1 |
A |
G |
5: 136,161,267 (GRCm39) |
S232P |
probably benign |
Het |
Med1 |
G |
T |
11: 98,048,275 (GRCm39) |
D840E |
possibly damaging |
Het |
Med23 |
T |
A |
10: 24,764,320 (GRCm39) |
|
probably null |
Het |
Naip5 |
G |
A |
13: 100,358,099 (GRCm39) |
P1046S |
possibly damaging |
Het |
Ndufa4l2 |
A |
T |
10: 127,351,301 (GRCm39) |
M31L |
probably benign |
Het |
Nlrp4f |
A |
G |
13: 65,342,371 (GRCm39) |
S425P |
possibly damaging |
Het |
Nova1 |
A |
T |
12: 46,767,581 (GRCm39) |
H113Q |
unknown |
Het |
Npc1 |
T |
C |
18: 12,328,142 (GRCm39) |
K1056E |
probably benign |
Het |
Nrbp1 |
A |
G |
5: 31,407,233 (GRCm39) |
H354R |
probably benign |
Het |
Ogfod3 |
A |
G |
11: 121,074,300 (GRCm39) |
F250L |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,731,647 (GRCm39) |
D3383G |
unknown |
Het |
Pde1b |
T |
A |
15: 103,436,026 (GRCm39) |
D457E |
probably benign |
Het |
Pkd1 |
C |
G |
17: 24,787,210 (GRCm39) |
S581R |
probably benign |
Het |
Pno1 |
T |
A |
11: 17,154,545 (GRCm39) |
Q212L |
probably benign |
Het |
Polr3b |
C |
T |
10: 84,468,350 (GRCm39) |
P112L |
probably damaging |
Het |
Pomk |
T |
A |
8: 26,473,102 (GRCm39) |
I284F |
probably damaging |
Het |
Rprm |
A |
T |
2: 53,975,165 (GRCm39) |
L51Q |
probably benign |
Het |
Spata31e5 |
A |
T |
1: 28,815,421 (GRCm39) |
D870E |
probably benign |
Het |
Taok3 |
A |
C |
5: 117,337,108 (GRCm39) |
S58R |
possibly damaging |
Het |
Tmprss9 |
T |
A |
10: 80,730,963 (GRCm39) |
S830T |
probably benign |
Het |
Tnfrsf1a |
G |
A |
6: 125,333,879 (GRCm39) |
C44Y |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,041,723 (GRCm39) |
D235E |
possibly damaging |
Het |
Vapb |
C |
A |
2: 173,613,330 (GRCm39) |
F76L |
possibly damaging |
Het |
Vmn2r72 |
T |
C |
7: 85,387,465 (GRCm39) |
I700V |
probably damaging |
Het |
Wwc1 |
G |
A |
11: 35,734,984 (GRCm39) |
R964W |
probably damaging |
Het |
Zfp644 |
A |
T |
5: 106,782,765 (GRCm39) |
V1203D |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACCCACTGAGCTGTGTGAGAAC -3'
(R):5'- TGACCGTTACGCCATTACCCAC -3'
Sequencing Primer
(F):5'- aggggtgaaagataggggg -3'
(R):5'- ATTACCCACGAGGCAGTtc -3'
|
Posted On |
2014-02-18 |