Incidental Mutation 'R8853:Rap1gap2'
| ID |
675133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rap1gap2
|
| Ensembl Gene |
ENSMUSG00000038807 |
| Gene Name |
RAP1 GTPase activating protein 2 |
| Synonyms |
Garnl4, LOC380710 |
| MMRRC Submission |
068675-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8853 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
74274182-74501741 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74298198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 414
(L414P)
|
| 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: L474P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: L474P
| 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: L414P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: L414P
| 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 |
|
| Meta Mutation Damage Score |
0.9740 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
A |
T |
6: 48,882,994 (GRCm39) |
Y290F |
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,311,337 (GRCm39) |
L136M |
possibly damaging |
Het |
| Arpp21 |
T |
G |
9: 111,976,516 (GRCm39) |
T322P |
probably damaging |
Het |
| Atp6v1c2 |
C |
T |
12: 17,351,148 (GRCm39) |
V128M |
possibly damaging |
Het |
| C4b |
A |
G |
17: 34,948,879 (GRCm39) |
V1523A |
possibly damaging |
Het |
| Copg2 |
G |
C |
6: 30,803,115 (GRCm39) |
L277V |
probably benign |
Het |
| Cyp2b19 |
A |
G |
7: 26,456,645 (GRCm39) |
T12A |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,787,024 (GRCm39) |
C115S |
probably damaging |
Het |
| Defb35 |
G |
A |
8: 22,430,806 (GRCm39) |
R60Q |
unknown |
Het |
| Dlgap3 |
T |
A |
4: 127,088,810 (GRCm39) |
D135E |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,117,645 (GRCm39) |
W2215R |
possibly damaging |
Het |
| Eea1 |
G |
C |
10: 95,857,517 (GRCm39) |
A660P |
|
Het |
| Egfr |
A |
G |
11: 16,858,885 (GRCm39) |
I955V |
possibly damaging |
Het |
| Eif3b |
G |
A |
5: 140,425,774 (GRCm39) |
V655M |
probably damaging |
Het |
| Elp3 |
T |
A |
14: 65,815,390 (GRCm39) |
I220F |
probably benign |
Het |
| Ern2 |
A |
G |
7: 121,772,967 (GRCm39) |
V550A |
probably damaging |
Het |
| Evc |
G |
A |
5: 37,460,647 (GRCm39) |
S857L |
possibly damaging |
Het |
| Glt28d2 |
T |
A |
3: 85,779,087 (GRCm39) |
M129L |
probably benign |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,547,726 (GRCm39) |
Y2742N |
probably damaging |
Het |
| Klhl6 |
T |
A |
16: 19,765,979 (GRCm39) |
Q541L |
possibly damaging |
Het |
| Myh14 |
G |
A |
7: 44,265,678 (GRCm39) |
T1559I |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,119,744 (GRCm39) |
F783L |
possibly damaging |
Het |
| Myrip |
C |
T |
9: 120,290,487 (GRCm39) |
A702V |
probably damaging |
Het |
| Ndnf |
C |
A |
6: 65,680,161 (GRCm39) |
Q147K |
probably benign |
Het |
| Necab2 |
C |
G |
8: 120,189,339 (GRCm39) |
R170G |
possibly damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,063,690 (GRCm39) |
I59T |
probably damaging |
Het |
| Nfix |
A |
G |
8: 85,454,276 (GRCm39) |
S211P |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,117,725 (GRCm39) |
Q483L |
possibly damaging |
Het |
| Or6k14 |
T |
C |
1: 173,927,861 (GRCm39) |
V279A |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,106,119 (GRCm39) |
T245A |
possibly damaging |
Het |
| Peli2 |
C |
T |
14: 48,493,945 (GRCm39) |
T389M |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,883,744 (GRCm39) |
K638E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,143,679 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
C |
3: 63,688,967 (GRCm39) |
D67G |
probably damaging |
Het |
| Plcl2 |
A |
T |
17: 50,913,884 (GRCm39) |
R298* |
probably null |
Het |
| Ppp1r13l |
A |
G |
7: 19,103,893 (GRCm39) |
I125V |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,090,110 (GRCm39) |
V71A |
probably benign |
Het |
| Pvr |
A |
G |
7: 19,650,897 (GRCm39) |
V209A |
possibly damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,464,855 (GRCm39) |
D601G |
probably damaging |
Het |
| Reck |
T |
A |
4: 43,912,089 (GRCm39) |
N199K |
probably benign |
Het |
| Rin2 |
G |
T |
2: 145,718,475 (GRCm39) |
A652S |
possibly damaging |
Het |
| Rnf34 |
T |
C |
5: 123,002,087 (GRCm39) |
L88P |
possibly damaging |
Het |
| Serpina3m |
A |
G |
12: 104,355,914 (GRCm39) |
I194V |
probably benign |
Het |
| Spred3 |
A |
G |
7: 28,861,415 (GRCm39) |
S255P |
probably benign |
Het |
| Sult2a7 |
A |
G |
7: 14,225,641 (GRCm39) |
|
probably null |
Het |
| Synpo2l |
C |
A |
14: 20,711,442 (GRCm39) |
G622C |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,795,382 (GRCm39) |
C582R |
probably damaging |
Het |
| Tex261 |
A |
T |
6: 83,750,727 (GRCm39) |
I90N |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,982,439 (GRCm39) |
F100S |
probably damaging |
Het |
| Trhde |
G |
A |
10: 114,636,830 (GRCm39) |
P126S |
probably benign |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,737 (GRCm39) |
V694E |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,782 (GRCm39) |
L600Q |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,634,227 (GRCm39) |
C2174Y |
|
Het |
| Wee2 |
A |
G |
6: 40,441,200 (GRCm39) |
T502A |
probably benign |
Het |
| Zfp112 |
A |
T |
7: 23,823,390 (GRCm39) |
|
silent |
Het |
| Zfp40 |
T |
A |
17: 23,394,691 (GRCm39) |
H632L |
possibly damaging |
Het |
| Zmynd11 |
T |
C |
13: 9,740,965 (GRCm39) |
S378G |
probably 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 |
|
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'- AATCTAGATGAGTTCCTACCAAGG -3'
(R):5'- AGTGACCAAGGTGCCCTATG -3'
Sequencing Primer
(F):5'- AGAGGAGACTTTCCGTGT -3'
(R):5'- TCAAGTTGGTACATTAGCAGGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation