Incidental Mutation 'R6999:Rapgef4'
| ID |
544380 |
| 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 |
045104-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.648)
|
| Stock # |
R6999 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
71811584-72087818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72069469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 730
(A730S)
|
| 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: A730S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028525
Gene: ENSMUSG00000049044
AA Change: A730S
| 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 damaging
Transcript: ENSMUST00000090826
AA Change: A874S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044
AA Change: A874S
| 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 damaging
Transcript: ENSMUST00000102698
AA Change: A856S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044
AA Change: A856S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,356,321 (GRCm39) |
Q629* |
probably null |
Het |
| Acss3 |
C |
A |
10: 106,889,362 (GRCm39) |
G153C |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,437,584 (GRCm39) |
S1270P |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,669,106 (GRCm39) |
L215Q |
probably damaging |
Het |
| Ankrd6 |
A |
G |
4: 32,823,459 (GRCm39) |
S188P |
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,078,875 (GRCm39) |
M316T |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,990,632 (GRCm39) |
S1707P |
probably benign |
Het |
| C2cd4b |
C |
T |
9: 67,667,571 (GRCm39) |
A189V |
probably benign |
Het |
| Camk2b |
C |
T |
11: 5,922,321 (GRCm39) |
R556H |
probably damaging |
Het |
| Cfap126 |
A |
G |
1: 170,953,733 (GRCm39) |
D101G |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,458,891 (GRCm39) |
I1085F |
probably damaging |
Het |
| Chp2 |
A |
G |
7: 121,821,092 (GRCm39) |
E151G |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,554,402 (GRCm39) |
T370A |
probably benign |
Het |
| Chrnb2 |
C |
T |
3: 89,668,622 (GRCm39) |
R231H |
possibly damaging |
Het |
| Crisp4 |
T |
A |
1: 18,207,259 (GRCm39) |
I10F |
possibly damaging |
Het |
| Csnka2ip |
T |
A |
16: 64,298,933 (GRCm39) |
H477L |
unknown |
Het |
| Ctu1 |
T |
A |
7: 43,324,662 (GRCm39) |
F34I |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,168,263 (GRCm39) |
S407T |
possibly damaging |
Het |
| Ech1 |
T |
C |
7: 28,529,689 (GRCm39) |
F191L |
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,684,064 (GRCm39) |
D60G |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,245,533 (GRCm39) |
Y222C |
possibly damaging |
Het |
| Eppk1 |
A |
T |
15: 75,993,423 (GRCm39) |
W1153R |
probably benign |
Het |
| Fbxo4 |
C |
T |
15: 4,007,437 (GRCm39) |
D76N |
probably damaging |
Het |
| Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
| Gemin5 |
C |
T |
11: 58,015,947 (GRCm39) |
R1352Q |
probably benign |
Het |
| Gm9639 |
T |
C |
10: 77,630,525 (GRCm39) |
|
probably benign |
Het |
| Gm973 |
C |
A |
1: 59,673,251 (GRCm39) |
Q160K |
unknown |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grid2 |
A |
T |
6: 64,053,893 (GRCm39) |
Q364L |
possibly damaging |
Het |
| Kcnn2 |
T |
G |
18: 45,725,444 (GRCm39) |
S313R |
probably damaging |
Het |
| Kera |
T |
C |
10: 97,444,814 (GRCm39) |
Y58H |
probably damaging |
Het |
| Meiosin |
A |
G |
7: 18,836,300 (GRCm39) |
|
probably benign |
Het |
| Mtfr2 |
T |
C |
10: 20,229,862 (GRCm39) |
L105P |
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,134,531 (GRCm39) |
T445A |
probably benign |
Het |
| Or2o1 |
A |
G |
11: 49,051,239 (GRCm39) |
R133G |
possibly damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,535 (GRCm39) |
L164Q |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,153,329 (GRCm39) |
L16P |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,171 (GRCm39) |
Y416H |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,223,342 (GRCm39) |
Y304C |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,797,475 (GRCm39) |
I2605T |
possibly damaging |
Het |
| Pnn |
T |
C |
12: 59,117,085 (GRCm39) |
|
probably null |
Het |
| Ppa1 |
G |
A |
10: 61,496,796 (GRCm39) |
G95S |
probably damaging |
Het |
| Scap |
A |
G |
9: 110,213,715 (GRCm39) |
Y1226C |
probably damaging |
Het |
| Scn2a |
A |
T |
2: 65,512,453 (GRCm39) |
T197S |
probably benign |
Het |
| Slc2a6 |
GCTTCC |
GC |
2: 26,916,047 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
T |
C |
12: 81,361,529 (GRCm39) |
Y430C |
probably benign |
Het |
| Tead3 |
T |
C |
17: 28,560,506 (GRCm39) |
T33A |
probably benign |
Het |
| Tep1 |
T |
A |
14: 51,088,162 (GRCm39) |
I792F |
possibly damaging |
Het |
| Trpm2 |
A |
T |
10: 77,771,725 (GRCm39) |
I638N |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 98,935,193 (GRCm39) |
D218G |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,022,778 (GRCm39) |
W495R |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,943,382 (GRCm39) |
L823P |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,378,272 (GRCm39) |
N186S |
probably benign |
Het |
| Umodl1 |
C |
T |
17: 31,218,097 (GRCm39) |
A1228V |
probably damaging |
Het |
| Vmn1r235 |
T |
A |
17: 21,482,127 (GRCm39) |
F151I |
probably benign |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,219 (GRCm39) |
K356N |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,710,969 (GRCm39) |
N897K |
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 |
|
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 |
|
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'- GCCAGCTCATATAAACGAGTCC -3'
(R):5'- CTTCCTCCACCTGGACAATG -3'
Sequencing Primer
(F):5'- TAACCACGTGCCTCTTGT -3'
(R):5'- CCACCTGGACAATGTGTTTTTAAAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation