Incidental Mutation 'R8675:Rasgrp4'
| ID |
661339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp4
|
| Ensembl Gene |
ENSMUSG00000030589 |
| Gene Name |
RAS guanyl releasing protein 4 |
| Synonyms |
|
| MMRRC Submission |
068530-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28834358-28853386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28842452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 242
(G242D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032811]
[ENSMUST00000094617]
[ENSMUST00000159351]
[ENSMUST00000159975]
[ENSMUST00000160194]
[ENSMUST00000161522]
[ENSMUST00000203070]
[ENSMUST00000203380]
[ENSMUST00000204194]
[ENSMUST00000204845]
[ENSMUST00000205027]
|
| AlphaFold |
Q8BTM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032811
AA Change: G242D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032811
Gene: ENSMUSG00000030589
AA Change: G242D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
Blast:RasGEFN
|
66 |
162 |
1e-30 |
BLAST |
|
low complexity region
|
163 |
188 |
N/A |
INTRINSIC |
|
RasGEF
|
197 |
433 |
2.92e-70 |
SMART |
|
C1
|
541 |
590 |
4.12e-12 |
SMART |
|
low complexity region
|
600 |
609 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094617
AA Change: G243D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092200
Gene: ENSMUSG00000030589
AA Change: G243D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
Blast:RasGEFN
|
66 |
163 |
2e-29 |
BLAST |
|
low complexity region
|
164 |
189 |
N/A |
INTRINSIC |
|
RasGEF
|
198 |
434 |
2.92e-70 |
SMART |
|
C1
|
542 |
596 |
1.81e-8 |
SMART |
|
low complexity region
|
606 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159351
AA Change: G242D
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124183
Gene: ENSMUSG00000030589
AA Change: G242D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
Blast:RasGEFN
|
66 |
162 |
7e-31 |
BLAST |
|
low complexity region
|
163 |
188 |
N/A |
INTRINSIC |
|
RasGEF
|
197 |
433 |
2.92e-70 |
SMART |
|
Blast:RasGEF
|
449 |
553 |
7e-25 |
BLAST |
|
SCOP:d1ptq__
|
541 |
573 |
1e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159975
AA Change: G242D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125137
Gene: ENSMUSG00000030589
AA Change: G242D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
Blast:RasGEFN
|
66 |
162 |
1e-30 |
BLAST |
|
low complexity region
|
163 |
188 |
N/A |
INTRINSIC |
|
RasGEF
|
197 |
433 |
2.92e-70 |
SMART |
|
C1
|
541 |
595 |
1.81e-8 |
SMART |
|
low complexity region
|
605 |
614 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160194
AA Change: G232D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124908
Gene: ENSMUSG00000030589
AA Change: G232D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
Blast:RasGEFN
|
66 |
162 |
8e-32 |
BLAST |
|
low complexity region
|
163 |
188 |
N/A |
INTRINSIC |
|
RasGEF
|
197 |
423 |
6.73e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161522
AA Change: G228D
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000123718
Gene: ENSMUSG00000030589
AA Change: G228D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
Blast:RasGEFN
|
66 |
165 |
7e-32 |
BLAST |
|
RasGEF
|
183 |
419 |
2.92e-70 |
SMART |
|
C1
|
527 |
576 |
4.12e-12 |
SMART |
|
low complexity region
|
586 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203070
AA Change: G242D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145352
Gene: ENSMUSG00000030589
AA Change: G242D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
RasGEFN
|
48 |
172 |
2.6e-3 |
SMART |
|
RasGEF
|
197 |
504 |
1.8e-20 |
SMART |
|
C1
|
449 |
498 |
2.1e-14 |
SMART |
|
low complexity region
|
508 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203380
AA Change: G242D
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000144753
Gene: ENSMUSG00000030589
AA Change: G242D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
RasGEFN
|
48 |
172 |
2.6e-3 |
SMART |
|
RasGEF
|
197 |
364 |
3e-25 |
SMART |
|
C1
|
472 |
521 |
2.1e-14 |
SMART |
|
low complexity region
|
531 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204194
|
| SMART Domains |
Protein: ENSMUSP00000145259
Gene: ENSMUSG00000030589
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
RasGEFN
|
48 |
172 |
2.6e-3 |
SMART |
|
RasGEF
|
85 |
336 |
1e-7 |
SMART |
|
C1
|
444 |
493 |
2.1e-14 |
SMART |
|
low complexity region
|
503 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204845
|
| SMART Domains |
Protein: ENSMUSP00000144774
Gene: ENSMUSG00000030589
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
RasGEFN
|
48 |
172 |
2.6e-3 |
SMART |
|
RasGEF
|
197 |
399 |
8.7e-49 |
SMART |
|
C1
|
507 |
556 |
2.1e-14 |
SMART |
|
low complexity region
|
566 |
575 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205027
|
| SMART Domains |
Protein: ENSMUSP00000145186
Gene: ENSMUSG00000030589
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
RasGEFN
|
48 |
172 |
2.6e-3 |
SMART |
|
C1
|
352 |
401 |
2.1e-14 |
SMART |
|
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1015 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired neutrophil reactive oxygen species production and chemotaxis in vitro. Mice homozygous for another knock-out allele exhibit decreased susceptibility to induced colitis and arthritis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Abl2 |
T |
C |
1: 156,452,909 (GRCm39) |
V148A |
probably damaging |
Het |
| Cacng7 |
G |
A |
7: 3,385,221 (GRCm39) |
V41I |
probably benign |
Het |
| Clrn3 |
A |
G |
7: 135,115,880 (GRCm39) |
S157P |
possibly damaging |
Het |
| Dsg2 |
T |
A |
18: 20,734,975 (GRCm39) |
N984K |
possibly damaging |
Het |
| Fam83e |
A |
G |
7: 45,373,293 (GRCm39) |
T220A |
probably benign |
Het |
| Frk |
A |
G |
10: 34,484,493 (GRCm39) |
T489A |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,331,438 (GRCm39) |
H195Q |
unknown |
Het |
| Gm49380 |
C |
T |
9: 44,023,187 (GRCm39) |
A354T |
probably benign |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm39) |
T249A |
possibly damaging |
Het |
| Il17ra |
T |
A |
6: 120,458,949 (GRCm39) |
M700K |
probably benign |
Het |
| Il20 |
A |
T |
1: 130,835,172 (GRCm39) |
W171R |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,986,926 (GRCm39) |
Y134C |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 70,916,500 (GRCm39) |
S178G |
probably benign |
Het |
| Pcdh1 |
A |
G |
18: 38,332,229 (GRCm39) |
V397A |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,158,896 (GRCm39) |
Y499C |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,607,183 (GRCm39) |
L337P |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pih1d1 |
A |
G |
7: 44,803,806 (GRCm39) |
K22E |
unknown |
Het |
| Pkd1l1 |
A |
G |
11: 8,798,916 (GRCm39) |
|
probably null |
Het |
| Pld2 |
A |
G |
11: 70,445,713 (GRCm39) |
D649G |
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,785,002 (GRCm39) |
T753A |
possibly damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,547,782 (GRCm39) |
L141M |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,346,984 (GRCm39) |
S3682P |
|
Het |
| Scnn1b |
A |
G |
7: 121,498,474 (GRCm39) |
K5E |
probably damaging |
Het |
| Smbd1 |
T |
C |
16: 32,625,340 (GRCm39) |
*142W |
probably null |
Het |
| Snrnp200 |
A |
G |
2: 127,074,443 (GRCm39) |
T1428A |
possibly damaging |
Het |
| Speer1b |
C |
T |
5: 11,823,973 (GRCm39) |
R174* |
probably null |
Het |
| Spire1 |
T |
C |
18: 67,624,378 (GRCm39) |
T594A |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,058,249 (GRCm39) |
T1906A |
probably benign |
Het |
| Stx16 |
T |
C |
2: 173,934,255 (GRCm39) |
S152P |
probably benign |
Het |
| Tcp11 |
T |
A |
17: 28,288,565 (GRCm39) |
Q331L |
probably benign |
Het |
| Tmem106a |
T |
A |
11: 101,481,222 (GRCm39) |
Y243* |
probably null |
Het |
| Tmem268 |
C |
T |
4: 63,502,108 (GRCm39) |
T312M |
probably damaging |
Het |
| Ttc9 |
T |
G |
12: 81,707,379 (GRCm39) |
V146G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,850,865 (GRCm39) |
I1758N |
probably damaging |
Het |
| Unc13a |
G |
A |
8: 72,098,359 (GRCm39) |
T1142I |
probably benign |
Het |
| Vipr1 |
T |
C |
9: 121,493,732 (GRCm39) |
L261P |
probably damaging |
Het |
| Vmn1r222 |
A |
T |
13: 23,416,607 (GRCm39) |
V202E |
probably damaging |
Het |
| Zfp78 |
A |
G |
7: 6,381,280 (GRCm39) |
N110S |
probably benign |
Het |
|
| Other mutations in Rasgrp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00594:Rasgrp4
|
APN |
7 |
28,847,966 (GRCm39) |
splice site |
probably benign |
|
|
IGL01145:Rasgrp4
|
APN |
7 |
28,850,898 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01806:Rasgrp4
|
APN |
7 |
28,838,475 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02023:Rasgrp4
|
APN |
7 |
28,838,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02499:Rasgrp4
|
APN |
7 |
28,850,928 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02989:Rasgrp4
|
APN |
7 |
28,847,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03281:Rasgrp4
|
APN |
7 |
28,845,450 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0092:Rasgrp4
|
UTSW |
7 |
28,844,557 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0390:Rasgrp4
|
UTSW |
7 |
28,845,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Rasgrp4
|
UTSW |
7 |
28,845,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0628:Rasgrp4
|
UTSW |
7 |
28,839,635 (GRCm39) |
intron |
probably benign |
|
|
R1420:Rasgrp4
|
UTSW |
7 |
28,839,770 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1434:Rasgrp4
|
UTSW |
7 |
28,837,152 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1664:Rasgrp4
|
UTSW |
7 |
28,839,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1911:Rasgrp4
|
UTSW |
7 |
28,838,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2164:Rasgrp4
|
UTSW |
7 |
28,838,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4277:Rasgrp4
|
UTSW |
7 |
28,852,019 (GRCm39) |
unclassified |
probably benign |
|
|
R5024:Rasgrp4
|
UTSW |
7 |
28,847,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Rasgrp4
|
UTSW |
7 |
28,844,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Rasgrp4
|
UTSW |
7 |
28,844,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5823:Rasgrp4
|
UTSW |
7 |
28,837,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6268:Rasgrp4
|
UTSW |
7 |
28,842,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6285:Rasgrp4
|
UTSW |
7 |
28,847,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7062:Rasgrp4
|
UTSW |
7 |
28,849,619 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7269:Rasgrp4
|
UTSW |
7 |
28,847,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7471:Rasgrp4
|
UTSW |
7 |
28,845,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7535:Rasgrp4
|
UTSW |
7 |
28,838,484 (GRCm39) |
missense |
probably benign |
|
|
R7792:Rasgrp4
|
UTSW |
7 |
28,842,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7854:Rasgrp4
|
UTSW |
7 |
28,850,035 (GRCm39) |
missense |
unknown |
|
|
R7855:Rasgrp4
|
UTSW |
7 |
28,850,035 (GRCm39) |
missense |
unknown |
|
|
R8052:Rasgrp4
|
UTSW |
7 |
28,849,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8144:Rasgrp4
|
UTSW |
7 |
28,848,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8253:Rasgrp4
|
UTSW |
7 |
28,838,287 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8256:Rasgrp4
|
UTSW |
7 |
28,842,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8671:Rasgrp4
|
UTSW |
7 |
28,842,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8872:Rasgrp4
|
UTSW |
7 |
28,838,521 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9647:Rasgrp4
|
UTSW |
7 |
28,839,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9681:Rasgrp4
|
UTSW |
7 |
28,849,687 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Rasgrp4
|
UTSW |
7 |
28,849,961 (GRCm39) |
intron |
probably benign |
|
|
Z1186:Rasgrp4
|
UTSW |
7 |
28,837,012 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Rasgrp4
|
UTSW |
7 |
28,850,021 (GRCm39) |
intron |
probably benign |
|
|
Z1186:Rasgrp4
|
UTSW |
7 |
28,850,017 (GRCm39) |
intron |
probably benign |
|
|
Z1186:Rasgrp4
|
UTSW |
7 |
28,848,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Rasgrp4
|
UTSW |
7 |
28,847,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1186:Rasgrp4
|
UTSW |
7 |
28,845,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1186:Rasgrp4
|
UTSW |
7 |
28,838,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGATGTCAGGGACCTCCAG -3'
(R):5'- TCTACAGTCCCAGAAGTGAGGAG -3'
Sequencing Primer
(F):5'- GCAGCCTGGGGGAGACTTAG -3'
(R):5'- GGGCACGCCTTTAATAATCTCAGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation