Incidental Mutation 'R8466:Rap1gap2'
| ID |
656842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rap1gap2
|
| Ensembl Gene |
ENSMUSG00000038807 |
| Gene Name |
RAP1 GTPase activating protein 2 |
| Synonyms |
Garnl4, LOC380710 |
| MMRRC Submission |
067910-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8466 (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 74316057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 208
(F208S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047488]
[ENSMUST00000102521]
|
| AlphaFold |
Q5SVL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047488
AA Change: F268S
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: F268S
| 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: F208S
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: F208S
| 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: 98.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,437,873 (GRCm39) |
E94G |
probably benign |
Het |
| Abhd16a |
G |
T |
17: 35,313,236 (GRCm39) |
R118L |
probably damaging |
Het |
| Adamts1 |
A |
G |
16: 85,599,400 (GRCm39) |
S67P |
probably benign |
Het |
| Adar |
C |
T |
3: 89,658,466 (GRCm39) |
P656L |
probably damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,216,648 (GRCm39) |
D296N |
probably benign |
Het |
| Akap9 |
G |
A |
5: 4,088,659 (GRCm39) |
R2096Q |
probably damaging |
Het |
| Aldh1a2 |
T |
A |
9: 71,160,205 (GRCm39) |
I77K |
probably benign |
Het |
| Cacnb4 |
A |
C |
2: 52,354,679 (GRCm39) |
V233G |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,206,987 (GRCm39) |
Q286L |
probably damaging |
Het |
| Camta1 |
T |
A |
4: 151,170,577 (GRCm39) |
K1055* |
probably null |
Het |
| Ccdc96 |
C |
A |
5: 36,642,252 (GRCm39) |
|
probably benign |
Het |
| Cep70 |
T |
C |
9: 99,160,073 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
| Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
| Ddx24 |
G |
T |
12: 103,376,160 (GRCm39) |
L779I |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,952,336 (GRCm39) |
E378G |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,438,621 (GRCm39) |
N172D |
probably damaging |
Het |
| Gprin3 |
C |
A |
6: 59,331,466 (GRCm39) |
Q280H |
possibly damaging |
Het |
| Gprin3 |
T |
A |
6: 59,331,467 (GRCm39) |
Q280L |
probably benign |
Het |
| Gucy2d |
C |
A |
7: 98,099,237 (GRCm39) |
P351Q |
probably damaging |
Het |
| H2-M11 |
G |
A |
17: 36,858,985 (GRCm39) |
G175D |
probably benign |
Het |
| Klhl42 |
C |
T |
6: 147,009,241 (GRCm39) |
T360M |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,120,948 (GRCm39) |
E2695K |
|
Het |
| Lsg1 |
T |
C |
16: 30,400,919 (GRCm39) |
Q130R |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,349,237 (GRCm39) |
T2100A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,554,444 (GRCm39) |
T3950A |
unknown |
Het |
| Myo1c |
G |
A |
11: 75,549,213 (GRCm39) |
R109H |
probably damaging |
Het |
| Nol4 |
C |
A |
18: 23,171,638 (GRCm39) |
A8S |
probably benign |
Het |
| Or1e1f |
A |
T |
11: 73,855,913 (GRCm39) |
T160S |
probably damaging |
Het |
| Or1p1b |
A |
G |
11: 74,131,016 (GRCm39) |
I209V |
probably benign |
Het |
| Pabpn1l |
C |
T |
8: 123,347,625 (GRCm39) |
V216M |
possibly damaging |
Het |
| Papln |
A |
C |
12: 83,825,255 (GRCm39) |
|
probably null |
Het |
| Pcsk5 |
A |
T |
19: 17,549,864 (GRCm39) |
C709* |
probably null |
Het |
| Pglyrp3 |
T |
A |
3: 91,921,941 (GRCm39) |
V3E |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,130,963 (GRCm39) |
N831D |
probably damaging |
Het |
| Prp2rt |
T |
C |
13: 97,235,492 (GRCm39) |
D85G |
probably damaging |
Het |
| Prss22 |
T |
C |
17: 24,215,802 (GRCm39) |
D40G |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,985 (GRCm39) |
N117K |
probably damaging |
Het |
| Srsf9 |
G |
C |
5: 115,465,492 (GRCm39) |
R42P |
probably benign |
Het |
| Stat3 |
A |
T |
11: 100,785,924 (GRCm39) |
I451N |
probably damaging |
Het |
| Tecrl |
A |
T |
5: 83,428,367 (GRCm39) |
Y301* |
probably null |
Het |
| Togaram1 |
T |
C |
12: 65,033,216 (GRCm39) |
S1065P |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,350,630 (GRCm39) |
L39Q |
probably null |
Het |
| Utp20 |
A |
T |
10: 88,654,365 (GRCm39) |
S241T |
probably damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,783,997 (GRCm39) |
F159S |
probably damaging |
Het |
| Wdr76 |
A |
C |
2: 121,341,038 (GRCm39) |
N28H |
probably damaging |
Het |
| Zfhx2 |
T |
A |
14: 55,310,353 (GRCm39) |
Y731F |
possibly damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,307,762 (GRCm39) |
E329D |
probably damaging |
Het |
| Zswim8 |
A |
T |
14: 20,760,744 (GRCm39) |
Q83L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGGCTGGGTATGATTCCC -3'
(R):5'- GTGCCCTTTACTTTATCATGAGAGC -3'
Sequencing Primer
(F):5'- GGGTATGATTCCCAGGGTACCAG -3'
(R):5'- CCTAGAAAGGCTAGTAGACTGTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation