Incidental Mutation 'R3015:Rapgef4'
| ID |
257624 |
| 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 |
040536-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.648)
|
| Stock # |
R3015 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
71811584-72087818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72028717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 378
(I378T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028525]
[ENSMUST00000090826]
[ENSMUST00000102698]
|
| AlphaFold |
Q9EQZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028525
AA Change: I252T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028525
Gene: ENSMUSG00000049044
AA Change: I252T
| 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: I396T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044
AA Change: I396T
| 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: I378T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044
AA Change: I378T
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156031
|
| Meta Mutation Damage Score |
0.7401 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (38/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,849,913 (GRCm39) |
H380R |
probably benign |
Het |
| Aff3 |
A |
T |
1: 38,249,649 (GRCm39) |
I486N |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,929,611 (GRCm39) |
F76Y |
probably damaging |
Het |
| Cfap44 |
A |
C |
16: 44,230,832 (GRCm39) |
D271A |
probably benign |
Het |
| Dbndd2 |
T |
A |
2: 164,330,270 (GRCm39) |
V34D |
probably damaging |
Het |
| Erc2 |
T |
A |
14: 27,733,732 (GRCm39) |
|
probably null |
Het |
| Fcgbp |
T |
C |
7: 27,774,838 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,417,402 (GRCm39) |
S2036P |
probably damaging |
Het |
| Golph3l |
A |
G |
3: 95,499,024 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Ifrd2 |
G |
A |
9: 107,467,221 (GRCm39) |
G60S |
probably null |
Het |
| Ints9 |
T |
A |
14: 65,187,727 (GRCm39) |
W3R |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 66,993,711 (GRCm39) |
E64G |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,465,512 (GRCm39) |
H1321Q |
probably damaging |
Het |
| Matn3 |
A |
C |
12: 9,002,217 (GRCm39) |
Q143P |
probably damaging |
Het |
| Myo18a |
A |
T |
11: 77,749,846 (GRCm39) |
|
probably benign |
Het |
| Nop9 |
T |
C |
14: 55,988,631 (GRCm39) |
S358P |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,384,037 (GRCm39) |
S801P |
probably damaging |
Het |
| Pax2 |
T |
C |
19: 44,804,463 (GRCm39) |
F268L |
probably damaging |
Het |
| Pik3r1 |
A |
G |
13: 101,823,771 (GRCm39) |
I538T |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,599,107 (GRCm39) |
S214P |
probably benign |
Het |
| Ppme1 |
T |
C |
7: 99,981,084 (GRCm39) |
H352R |
probably damaging |
Het |
| Ppp1r26 |
A |
C |
2: 28,342,314 (GRCm39) |
D648A |
probably damaging |
Het |
| Prom1 |
C |
A |
5: 44,191,733 (GRCm39) |
V337F |
probably damaging |
Het |
| Rnf115 |
T |
C |
3: 96,661,675 (GRCm39) |
S43P |
probably damaging |
Het |
| Rnf216 |
A |
G |
5: 143,061,480 (GRCm39) |
|
probably null |
Het |
| Scn7a |
G |
T |
2: 66,530,240 (GRCm39) |
Q702K |
probably benign |
Het |
| Shisal2b |
T |
A |
13: 104,994,899 (GRCm39) |
I83F |
possibly damaging |
Het |
| Slc2a1 |
T |
A |
4: 118,989,340 (GRCm39) |
N13K |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,715,829 (GRCm39) |
I864V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,650 (GRCm39) |
M196K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Umod |
T |
C |
7: 119,071,763 (GRCm39) |
D326G |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 5,980,890 (GRCm39) |
D492G |
unknown |
Het |
| Vash1 |
A |
G |
12: 86,732,194 (GRCm39) |
T126A |
probably benign |
Het |
| Vsig10l |
T |
A |
7: 43,116,881 (GRCm39) |
I574K |
possibly 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 |
|
|
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'- ACCTGAATTAGTTAGGATTTGCCGG -3'
(R):5'- TGACTCTGAGTGCAATAATTGAGG -3'
Sequencing Primer
(F):5'- GTAACTCTGGAGCCTGAAA -3'
(R):5'- GGAGTAACAATGCCATGGT -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation