Incidental Mutation 'R9506:Rap1gap2'
| ID |
717838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rap1gap2
|
| Ensembl Gene |
ENSMUSG00000038807 |
| Gene Name |
RAP1 GTPase activating protein 2 |
| Synonyms |
Garnl4, LOC380710 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9506 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
74274182-74501741 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74305266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 313
(M313T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047488]
[ENSMUST00000102521]
|
| AlphaFold |
Q5SVL6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047488
AA Change: M373T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: M373T
| 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: M313T
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: M313T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,437,773 (GRCm39) |
T632A |
unknown |
Het |
| Atp2b1 |
T |
C |
10: 98,858,862 (GRCm39) |
S1182P |
probably benign |
Het |
| Best3 |
T |
A |
10: 116,839,826 (GRCm39) |
F225I |
probably damaging |
Het |
| Camk1g |
A |
G |
1: 193,030,363 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
G |
A |
12: 111,261,372 (GRCm39) |
P1656S |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,791,975 (GRCm39) |
Q426L |
|
Het |
| Chrna9 |
T |
A |
5: 66,128,213 (GRCm39) |
D140E |
probably damaging |
Het |
| Cmpk2 |
A |
G |
12: 26,519,850 (GRCm39) |
D167G |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,250,023 (GRCm39) |
L985P |
probably damaging |
Het |
| Cutal |
A |
G |
2: 34,775,894 (GRCm39) |
D75G |
probably null |
Het |
| Dnah12 |
G |
T |
14: 26,514,168 (GRCm39) |
V1776F |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,119,299 (GRCm39) |
V1528A |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,287,912 (GRCm39) |
D16G |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,281,368 (GRCm39) |
L593M |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,024,950 (GRCm39) |
D274G |
probably benign |
Het |
| Gabrg1 |
C |
T |
5: 70,939,713 (GRCm39) |
V140M |
probably damaging |
Het |
| Glrx2 |
C |
T |
1: 143,622,270 (GRCm39) |
R89* |
probably null |
Het |
| Gsta3 |
A |
C |
1: 21,327,586 (GRCm39) |
D40A |
possibly damaging |
Het |
| H4c3 |
C |
T |
13: 23,882,264 (GRCm39) |
G57S |
probably benign |
Het |
| Hsf2 |
G |
A |
10: 57,381,241 (GRCm39) |
|
probably null |
Het |
| Ifi203 |
A |
G |
1: 173,751,565 (GRCm39) |
S833P |
possibly damaging |
Het |
| Ilk |
T |
C |
7: 105,390,020 (GRCm39) |
Y132H |
probably benign |
Het |
| Jup |
G |
A |
11: 100,267,704 (GRCm39) |
R540C |
probably damaging |
Het |
| Kdm7a |
T |
A |
6: 39,126,305 (GRCm39) |
H560L |
probably benign |
Het |
| Kynu |
T |
A |
2: 43,571,414 (GRCm39) |
N443K |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,162,919 (GRCm39) |
S1134P |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,503,918 (GRCm39) |
D331G |
probably benign |
Het |
| Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,877,831 (GRCm39) |
Q1584R |
possibly damaging |
Het |
| Nup210 |
G |
A |
6: 91,048,856 (GRCm39) |
P467S |
possibly damaging |
Het |
| Nxf1 |
A |
G |
19: 8,749,508 (GRCm39) |
Y135C |
probably damaging |
Het |
| Or4a67 |
T |
C |
2: 88,597,840 (GRCm39) |
Y273C |
probably damaging |
Het |
| Rab11fip3 |
T |
G |
17: 26,213,250 (GRCm39) |
E853A |
probably damaging |
Het |
| Rims2 |
G |
A |
15: 39,335,832 (GRCm39) |
V814I |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,319,384 (GRCm39) |
|
probably null |
Het |
| Slc36a3 |
A |
G |
11: 55,039,457 (GRCm39) |
I57T |
probably benign |
Het |
| Slc5a9 |
G |
A |
4: 111,750,439 (GRCm39) |
R140* |
probably null |
Het |
| Tas2r131 |
T |
A |
6: 132,934,024 (GRCm39) |
T262S |
possibly damaging |
Het |
| Tigd3 |
G |
T |
19: 5,942,860 (GRCm39) |
A90D |
probably damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,638,461 (GRCm39) |
M217V |
possibly damaging |
Het |
| Ube3d |
A |
G |
9: 86,330,825 (GRCm39) |
I119T |
probably damaging |
Het |
| Vcp |
A |
G |
4: 42,983,383 (GRCm39) |
V559A |
probably damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,963 (GRCm39) |
I66N |
probably damaging |
Het |
| Vmn1r234 |
T |
G |
17: 21,449,503 (GRCm39) |
I139S |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,429,404 (GRCm39) |
M557I |
probably benign |
Het |
| Wnt7b |
A |
G |
15: 85,465,613 (GRCm39) |
S22P |
unknown |
Het |
| Zfp850 |
C |
A |
7: 27,688,987 (GRCm39) |
R407L |
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 |
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCATTGACTTCCCAGGGG -3'
(R):5'- ATACCCTTGTTGGCCCTCAG -3'
Sequencing Primer
(F):5'- CGTTGATACTAGAGATAGAGCCC -3'
(R):5'- GTTGGCCCTCAGCTCATC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation