Incidental Mutation 'R0106:Rap1gap2'
ID |
17441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rap1gap2
|
Ensembl Gene |
ENSMUSG00000038807 |
Gene Name |
RAP1 GTPase activating protein 2 |
Synonyms |
Garnl4, LOC380710 |
MMRRC Submission |
038392-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0106 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
74274182-74501741 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74326570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 166
(C166R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099580
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047488]
[ENSMUST00000102521]
[ENSMUST00000145524]
[ENSMUST00000208896]
|
AlphaFold |
Q5SVL6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047488
AA Change: C226R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000040180 Gene: ENSMUSG00000038807 AA Change: C226R
Domain | Start | End | E-Value | Type |
Pfam:Rap_GAP
|
258 |
445 |
1.2e-64 |
PFAM |
low complexity region
|
617 |
629 |
N/A |
INTRINSIC |
low complexity region
|
660 |
669 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102521
AA Change: C166R
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000099580 Gene: ENSMUSG00000038807 AA Change: C166R
Domain | Start | End | E-Value | Type |
Pfam:Rap_GAP
|
258 |
439 |
4.9e-67 |
PFAM |
low complexity region
|
617 |
629 |
N/A |
INTRINSIC |
low complexity region
|
660 |
669 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145524
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208896
|
Meta Mutation Damage Score |
0.0766 |
Coding Region Coverage |
- 1x: 87.6%
- 3x: 83.1%
- 10x: 68.0%
- 20x: 43.0%
|
Validation Efficiency |
97% (89/92) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933415A04Rik |
A |
T |
11: 43,478,200 (GRCm39) |
|
probably benign |
Het |
A730018C14Rik |
A |
T |
12: 112,381,628 (GRCm39) |
|
noncoding transcript |
Het |
Abca5 |
A |
T |
11: 110,210,651 (GRCm39) |
L176Q |
probably damaging |
Het |
Aspm |
C |
A |
1: 139,404,614 (GRCm39) |
Q1315K |
probably benign |
Het |
Bpifb4 |
A |
G |
2: 153,782,888 (GRCm39) |
D31G |
probably benign |
Het |
Brf1 |
A |
G |
12: 112,937,083 (GRCm39) |
|
probably benign |
Het |
Card19 |
A |
C |
13: 49,361,621 (GRCm39) |
D3E |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,809,822 (GRCm39) |
F1480L |
probably damaging |
Het |
Cldn25 |
A |
G |
9: 48,958,933 (GRCm39) |
|
noncoding transcript |
Het |
Col11a2 |
A |
G |
17: 34,276,249 (GRCm39) |
N799D |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
Cyp2g1 |
T |
A |
7: 26,513,607 (GRCm39) |
I182N |
probably damaging |
Het |
Dntt |
A |
T |
19: 41,044,185 (GRCm39) |
|
probably benign |
Het |
Dscc1 |
C |
A |
15: 54,946,966 (GRCm39) |
C253F |
probably benign |
Het |
Dysf |
C |
A |
6: 84,090,318 (GRCm39) |
F956L |
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,596,528 (GRCm39) |
|
probably benign |
Het |
Firrm |
T |
C |
1: 163,810,380 (GRCm39) |
|
probably benign |
Het |
Fkbp6 |
C |
T |
5: 135,368,858 (GRCm39) |
R234Q |
probably benign |
Het |
Gda |
T |
C |
19: 21,374,920 (GRCm39) |
D332G |
probably benign |
Het |
Ggt7 |
C |
T |
2: 155,336,813 (GRCm39) |
A560T |
possibly damaging |
Het |
Glis3 |
A |
T |
19: 28,509,268 (GRCm39) |
S239T |
possibly damaging |
Het |
Glyctk |
G |
A |
9: 106,033,168 (GRCm39) |
P124L |
probably benign |
Het |
Gm10845 |
T |
A |
14: 80,100,644 (GRCm39) |
|
noncoding transcript |
Het |
H13 |
A |
G |
2: 152,528,176 (GRCm39) |
K175R |
probably benign |
Het |
Igsf6 |
T |
A |
7: 120,673,677 (GRCm39) |
I18F |
probably benign |
Het |
Immt |
A |
G |
6: 71,828,828 (GRCm39) |
S128G |
probably benign |
Het |
Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
Kif13a |
G |
T |
13: 46,978,823 (GRCm39) |
|
probably benign |
Het |
L2hgdh |
A |
T |
12: 69,752,563 (GRCm39) |
Y239* |
probably null |
Het |
Lamp1 |
A |
G |
8: 13,224,550 (GRCm39) |
T405A |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,590,980 (GRCm39) |
N817K |
possibly damaging |
Het |
Macf1 |
G |
A |
4: 123,302,357 (GRCm39) |
T715I |
probably benign |
Het |
Mapk12 |
T |
C |
15: 89,017,187 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
T |
12: 66,763,480 (GRCm39) |
N205K |
probably damaging |
Het |
Nat10 |
A |
G |
2: 103,587,550 (GRCm39) |
V55A |
probably damaging |
Het |
Nlrp10 |
T |
C |
7: 108,524,529 (GRCm39) |
E317G |
possibly damaging |
Het |
Nolc1 |
T |
A |
19: 46,068,528 (GRCm39) |
|
probably benign |
Het |
Nomo1 |
T |
C |
7: 45,687,056 (GRCm39) |
I72T |
probably damaging |
Het |
Or5b98 |
A |
G |
19: 12,931,720 (GRCm39) |
I256V |
probably benign |
Het |
Pappa2 |
C |
T |
1: 158,542,547 (GRCm39) |
C1780Y |
probably damaging |
Het |
Pgm2l1 |
A |
G |
7: 99,899,580 (GRCm39) |
M65V |
probably benign |
Het |
Pnisr |
T |
C |
4: 21,874,617 (GRCm39) |
|
probably benign |
Het |
Prss34 |
A |
T |
17: 25,517,700 (GRCm39) |
D25V |
probably damaging |
Het |
Ptpn1 |
T |
C |
2: 167,818,338 (GRCm39) |
|
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pygb |
A |
G |
2: 150,648,123 (GRCm39) |
D119G |
probably benign |
Het |
Racgap1 |
T |
C |
15: 99,540,839 (GRCm39) |
T4A |
possibly damaging |
Het |
Rbm28 |
C |
A |
6: 29,127,802 (GRCm39) |
V705L |
probably benign |
Het |
Rgs1 |
C |
T |
1: 144,124,287 (GRCm39) |
V50M |
probably benign |
Het |
Rgs12 |
C |
T |
5: 35,124,008 (GRCm39) |
T597I |
probably benign |
Het |
Ros1 |
T |
C |
10: 52,018,363 (GRCm39) |
N765S |
possibly damaging |
Het |
Ruvbl1 |
A |
G |
6: 88,450,182 (GRCm39) |
R58G |
probably damaging |
Het |
Slc6a7 |
A |
G |
18: 61,135,295 (GRCm39) |
V411A |
probably benign |
Het |
Slco1a6 |
A |
T |
6: 142,103,116 (GRCm39) |
|
probably benign |
Het |
Smc1b |
A |
T |
15: 84,955,020 (GRCm39) |
D1077E |
probably damaging |
Het |
Srek1 |
G |
A |
13: 103,880,131 (GRCm39) |
H476Y |
unknown |
Het |
Strn3 |
A |
G |
12: 51,668,571 (GRCm39) |
V673A |
probably benign |
Het |
Tepsin |
T |
C |
11: 119,982,637 (GRCm39) |
|
probably null |
Het |
Tmem131l |
C |
T |
3: 83,842,122 (GRCm39) |
|
probably benign |
Het |
Tmem132c |
T |
C |
5: 127,631,733 (GRCm39) |
V664A |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,800,277 (GRCm39) |
D602G |
probably damaging |
Het |
Trbv15 |
T |
C |
6: 41,118,199 (GRCm39) |
|
probably benign |
Het |
Trpm4 |
A |
G |
7: 44,968,664 (GRCm39) |
|
probably null |
Het |
Wdr70 |
A |
T |
15: 8,049,068 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Rap1gap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00687:Rap1gap2
|
APN |
11 |
74,307,085 (GRCm39) |
missense |
probably benign |
0.25 |
IGL00839:Rap1gap2
|
APN |
11 |
74,328,274 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02301:Rap1gap2
|
APN |
11 |
74,298,195 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02367:Rap1gap2
|
APN |
11 |
74,288,181 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02832:Rap1gap2
|
APN |
11 |
74,303,281 (GRCm39) |
splice site |
probably benign |
|
IGL03067:Rap1gap2
|
APN |
11 |
74,284,238 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL03341:Rap1gap2
|
APN |
11 |
74,326,540 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03355:Rap1gap2
|
APN |
11 |
74,303,170 (GRCm39) |
missense |
probably damaging |
1.00 |
drummerboy
|
UTSW |
11 |
74,298,198 (GRCm39) |
missense |
probably damaging |
1.00 |
magister
|
UTSW |
11 |
74,326,587 (GRCm39) |
nonsense |
probably null |
|
P0026:Rap1gap2
|
UTSW |
11 |
74,458,036 (GRCm39) |
splice site |
probably benign |
|
R0106:Rap1gap2
|
UTSW |
11 |
74,326,570 (GRCm39) |
missense |
probably benign |
0.10 |
R0514:Rap1gap2
|
UTSW |
11 |
74,279,680 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0518:Rap1gap2
|
UTSW |
11 |
74,332,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R0521:Rap1gap2
|
UTSW |
11 |
74,332,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R1070:Rap1gap2
|
UTSW |
11 |
74,327,853 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1467:Rap1gap2
|
UTSW |
11 |
74,327,853 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1467:Rap1gap2
|
UTSW |
11 |
74,327,853 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1998:Rap1gap2
|
UTSW |
11 |
74,286,659 (GRCm39) |
missense |
probably benign |
0.04 |
R2144:Rap1gap2
|
UTSW |
11 |
74,316,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R2145:Rap1gap2
|
UTSW |
11 |
74,316,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R2180:Rap1gap2
|
UTSW |
11 |
74,283,972 (GRCm39) |
missense |
probably benign |
0.24 |
R2938:Rap1gap2
|
UTSW |
11 |
74,298,148 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2991:Rap1gap2
|
UTSW |
11 |
74,298,148 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2992:Rap1gap2
|
UTSW |
11 |
74,298,148 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2993:Rap1gap2
|
UTSW |
11 |
74,298,148 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3033:Rap1gap2
|
UTSW |
11 |
74,298,148 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3035:Rap1gap2
|
UTSW |
11 |
74,298,148 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3686:Rap1gap2
|
UTSW |
11 |
74,298,148 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4426:Rap1gap2
|
UTSW |
11 |
74,298,148 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4427:Rap1gap2
|
UTSW |
11 |
74,298,148 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4621:Rap1gap2
|
UTSW |
11 |
74,326,525 (GRCm39) |
critical splice donor site |
probably null |
|
R4705:Rap1gap2
|
UTSW |
11 |
74,328,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R4809:Rap1gap2
|
UTSW |
11 |
74,298,800 (GRCm39) |
splice site |
probably benign |
|
R5092:Rap1gap2
|
UTSW |
11 |
74,329,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R5283:Rap1gap2
|
UTSW |
11 |
74,286,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R5343:Rap1gap2
|
UTSW |
11 |
74,332,611 (GRCm39) |
missense |
probably damaging |
0.99 |
R5941:Rap1gap2
|
UTSW |
11 |
74,283,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R6414:Rap1gap2
|
UTSW |
11 |
74,296,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R6647:Rap1gap2
|
UTSW |
11 |
74,298,754 (GRCm39) |
missense |
probably benign |
0.04 |
R6951:Rap1gap2
|
UTSW |
11 |
74,375,774 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7096:Rap1gap2
|
UTSW |
11 |
74,283,057 (GRCm39) |
missense |
probably damaging |
0.99 |
R7107:Rap1gap2
|
UTSW |
11 |
74,283,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R7397:Rap1gap2
|
UTSW |
11 |
74,305,237 (GRCm39) |
missense |
probably benign |
0.28 |
R7553:Rap1gap2
|
UTSW |
11 |
74,326,548 (GRCm39) |
missense |
probably damaging |
0.97 |
R8038:Rap1gap2
|
UTSW |
11 |
74,283,109 (GRCm39) |
missense |
probably benign |
0.00 |
R8051:Rap1gap2
|
UTSW |
11 |
74,286,651 (GRCm39) |
missense |
probably damaging |
0.97 |
R8466:Rap1gap2
|
UTSW |
11 |
74,316,057 (GRCm39) |
missense |
probably benign |
0.33 |
R8772:Rap1gap2
|
UTSW |
11 |
74,296,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R8853:Rap1gap2
|
UTSW |
11 |
74,298,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R8914:Rap1gap2
|
UTSW |
11 |
74,326,587 (GRCm39) |
nonsense |
probably null |
|
R9506:Rap1gap2
|
UTSW |
11 |
74,305,266 (GRCm39) |
missense |
probably damaging |
0.98 |
R9600:Rap1gap2
|
UTSW |
11 |
74,283,954 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Rap1gap2
|
UTSW |
11 |
74,501,703 (GRCm39) |
frame shift |
probably null |
|
Z1186:Rap1gap2
|
UTSW |
11 |
74,487,721 (GRCm39) |
missense |
probably benign |
0.41 |
Z1187:Rap1gap2
|
UTSW |
11 |
74,487,721 (GRCm39) |
missense |
probably benign |
0.41 |
Z1188:Rap1gap2
|
UTSW |
11 |
74,487,721 (GRCm39) |
missense |
probably benign |
0.41 |
Z1189:Rap1gap2
|
UTSW |
11 |
74,487,721 (GRCm39) |
missense |
probably benign |
0.41 |
Z1190:Rap1gap2
|
UTSW |
11 |
74,487,721 (GRCm39) |
missense |
probably benign |
0.41 |
Z1191:Rap1gap2
|
UTSW |
11 |
74,487,721 (GRCm39) |
missense |
probably benign |
0.41 |
Z1192:Rap1gap2
|
UTSW |
11 |
74,487,721 (GRCm39) |
missense |
probably benign |
0.41 |
|
Posted On |
2013-01-31 |