Incidental Mutation 'IGL03355:Rap1gap2'
ID |
419906 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rap1gap2
|
Ensembl Gene |
ENSMUSG00000038807 |
Gene Name |
RAP1 GTPase activating protein 2 |
Synonyms |
Garnl4, LOC380710 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03355
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
74274182-74501741 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 74303170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 426
(I426F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047488]
[ENSMUST00000102521]
|
AlphaFold |
Q5SVL6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047488
AA Change: I426F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000040180 Gene: ENSMUSG00000038807 AA Change: I426F
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 damaging
Transcript: ENSMUST00000102521
AA Change: I366F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099580 Gene: ENSMUSG00000038807 AA Change: I366F
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 |
noncoding transcript
Transcript: ENSMUST00000123440
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt1 |
T |
C |
X: 45,418,624 (GRCm39) |
V213A |
probably benign |
Het |
Adam28 |
A |
T |
14: 68,872,252 (GRCm39) |
|
probably benign |
Het |
Apeh |
T |
C |
9: 107,963,644 (GRCm39) |
H557R |
probably benign |
Het |
Atmin |
T |
A |
8: 117,684,164 (GRCm39) |
L608* |
probably null |
Het |
B3gnt5 |
A |
T |
16: 19,587,903 (GRCm39) |
M41L |
probably benign |
Het |
Best3 |
T |
C |
10: 116,829,010 (GRCm39) |
F97L |
possibly damaging |
Het |
Chmp1b2 |
C |
A |
X: 106,831,889 (GRCm39) |
V180F |
possibly damaging |
Het |
Col7a1 |
G |
A |
9: 108,807,228 (GRCm39) |
V2486M |
unknown |
Het |
Crym |
T |
C |
7: 119,798,536 (GRCm39) |
|
probably null |
Het |
Cubn |
T |
C |
2: 13,482,868 (GRCm39) |
|
probably null |
Het |
Dnah7b |
A |
G |
1: 46,158,464 (GRCm39) |
D349G |
probably benign |
Het |
Eea1 |
T |
C |
10: 95,878,074 (GRCm39) |
|
probably benign |
Het |
Emc1 |
C |
T |
4: 139,098,904 (GRCm39) |
|
probably benign |
Het |
Eps8 |
T |
C |
6: 137,489,143 (GRCm39) |
|
probably benign |
Het |
Ereg |
A |
G |
5: 91,236,440 (GRCm39) |
|
probably benign |
Het |
Faah |
G |
A |
4: 115,859,725 (GRCm39) |
P369S |
probably benign |
Het |
Fam135a |
A |
T |
1: 24,068,249 (GRCm39) |
N703K |
possibly damaging |
Het |
Frmpd1 |
T |
C |
4: 45,279,140 (GRCm39) |
S622P |
probably damaging |
Het |
Gm10030 |
A |
G |
9: 110,835,841 (GRCm39) |
|
noncoding transcript |
Het |
Gpr179 |
A |
T |
11: 97,228,434 (GRCm39) |
S1240R |
possibly damaging |
Het |
Hax1 |
A |
T |
3: 89,904,754 (GRCm39) |
H146Q |
possibly damaging |
Het |
Ift46 |
A |
G |
9: 44,693,445 (GRCm39) |
N31D |
possibly damaging |
Het |
Kel |
C |
T |
6: 41,675,821 (GRCm39) |
|
probably null |
Het |
Khk |
A |
T |
5: 31,086,904 (GRCm39) |
I108L |
probably benign |
Het |
Morc4 |
T |
C |
X: 138,750,431 (GRCm39) |
N375S |
probably null |
Het |
Mta3 |
A |
T |
17: 84,107,474 (GRCm39) |
|
probably benign |
Het |
Nacc2 |
T |
C |
2: 25,952,249 (GRCm39) |
K369R |
probably damaging |
Het |
Nkap |
T |
C |
X: 36,403,323 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 58,928,618 (GRCm39) |
L6016Q |
probably damaging |
Het |
Or52e2 |
T |
C |
7: 102,804,408 (GRCm39) |
E182G |
probably damaging |
Het |
Or8c9 |
A |
T |
9: 38,240,952 (GRCm39) |
Q20L |
probably benign |
Het |
Pde4c |
T |
A |
8: 71,199,244 (GRCm39) |
L182Q |
probably damaging |
Het |
Pla2g10 |
G |
T |
16: 13,548,284 (GRCm39) |
|
probably null |
Het |
Rbm33 |
C |
A |
5: 28,596,059 (GRCm39) |
|
probably benign |
Het |
Rnf139 |
C |
A |
15: 58,771,881 (GRCm39) |
D635E |
probably benign |
Het |
Sar1a |
T |
C |
10: 61,520,718 (GRCm39) |
V15A |
possibly damaging |
Het |
Scarb1 |
A |
C |
5: 125,366,766 (GRCm39) |
S56A |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,290,912 (GRCm39) |
K1945E |
possibly damaging |
Het |
Sec62 |
G |
A |
3: 30,864,071 (GRCm39) |
G118R |
unknown |
Het |
Sgce |
T |
A |
6: 4,689,738 (GRCm39) |
Q356L |
probably damaging |
Het |
Slco4c1 |
A |
T |
1: 96,770,232 (GRCm39) |
Y277* |
probably null |
Het |
Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
Sphkap |
A |
T |
1: 83,258,224 (GRCm39) |
I173N |
probably damaging |
Het |
Spred3 |
C |
T |
7: 28,860,997 (GRCm39) |
C394Y |
unknown |
Het |
Stra6l |
A |
G |
4: 45,873,689 (GRCm39) |
D283G |
probably benign |
Het |
Tipin |
A |
T |
9: 64,195,406 (GRCm39) |
Q4L |
probably benign |
Het |
Tmprss11c |
T |
A |
5: 86,379,730 (GRCm39) |
I380F |
probably benign |
Het |
Tymp |
T |
C |
15: 89,259,219 (GRCm39) |
D195G |
possibly damaging |
Het |
Ugt2b34 |
T |
A |
5: 87,054,544 (GRCm39) |
Y79F |
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,511,580 (GRCm39) |
S596T |
possibly damaging |
Het |
Wdhd1 |
A |
G |
14: 47,481,346 (GRCm39) |
S1024P |
possibly damaging |
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 |
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 |
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 |
2016-08-02 |