Incidental Mutation 'R7553:Rap1gap2'
| ID |
584567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rap1gap2
|
| Ensembl Gene |
ENSMUSG00000038807 |
| Gene Name |
RAP1 GTPase activating protein 2 |
| Synonyms |
Garnl4, LOC380710 |
| MMRRC Submission |
045622-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
74274182-74501741 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74326548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 173
(E173G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047488]
[ENSMUST00000102521]
[ENSMUST00000145524]
[ENSMUST00000208896]
|
| AlphaFold |
Q5SVL6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047488
AA Change: E233G
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: E233G
| 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: E173G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: E173G
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,648,545 (GRCm39) |
L649P |
probably damaging |
Het |
| Acad10 |
T |
C |
5: 121,777,318 (GRCm39) |
Y371C |
probably damaging |
Het |
| Avp |
A |
G |
2: 130,423,098 (GRCm39) |
V71A |
probably damaging |
Het |
| Bhmt |
C |
T |
13: 93,756,589 (GRCm39) |
|
probably null |
Het |
| Capn15 |
T |
C |
17: 26,179,738 (GRCm39) |
E874G |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,773,231 (GRCm39) |
F591S |
probably damaging |
Het |
| Ccne2 |
A |
T |
4: 11,201,348 (GRCm39) |
Q292L |
probably benign |
Het |
| Cd96 |
T |
G |
16: 45,872,384 (GRCm39) |
T406P |
probably damaging |
Het |
| Csnk1e |
G |
A |
15: 79,310,566 (GRCm39) |
A153V |
probably damaging |
Het |
| Dlk1 |
G |
A |
12: 109,420,889 (GRCm39) |
V15I |
unknown |
Het |
| Dmbt1 |
A |
G |
7: 130,706,597 (GRCm39) |
N1372S |
unknown |
Het |
| Dntt |
A |
T |
19: 41,017,926 (GRCm39) |
R17W |
probably damaging |
Het |
| Erich3 |
G |
T |
3: 154,439,137 (GRCm39) |
A260S |
probably benign |
Het |
| Foxp2 |
C |
T |
6: 15,437,881 (GRCm39) |
S669L |
unknown |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,053,925 (GRCm39) |
K375E |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,749,394 (GRCm39) |
G603S |
possibly damaging |
Het |
| Hexb |
C |
T |
13: 97,334,681 (GRCm39) |
R30Q |
probably benign |
Het |
| Homer3 |
A |
T |
8: 70,742,774 (GRCm39) |
T162S |
probably benign |
Het |
| L3mbtl1 |
A |
G |
2: 162,790,151 (GRCm39) |
E15G |
probably benign |
Het |
| Manea |
A |
T |
4: 26,327,986 (GRCm39) |
F352I |
probably damaging |
Het |
| Mcf2l |
T |
A |
8: 13,047,268 (GRCm39) |
M210K |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,667,824 (GRCm39) |
L734P |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,155,571 (GRCm39) |
V894A |
possibly damaging |
Het |
| Myh4 |
T |
A |
11: 67,147,221 (GRCm39) |
M1622K |
probably damaging |
Het |
| Myrf |
A |
G |
19: 10,206,240 (GRCm39) |
F59L |
probably benign |
Het |
| Ndst3 |
G |
T |
3: 123,350,709 (GRCm39) |
|
probably null |
Het |
| Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
| Nos3 |
A |
T |
5: 24,586,715 (GRCm39) |
D986V |
possibly damaging |
Het |
| Nrp1 |
G |
A |
8: 129,158,468 (GRCm39) |
A252T |
probably damaging |
Het |
| Nup205 |
G |
T |
6: 35,178,934 (GRCm39) |
R668L |
probably damaging |
Het |
| Or51aa2 |
T |
C |
7: 103,188,363 (GRCm39) |
Y26C |
probably damaging |
Het |
| Or5af2 |
T |
A |
11: 58,707,886 (GRCm39) |
D17E |
probably benign |
Het |
| Or5p56 |
G |
A |
7: 107,589,682 (GRCm39) |
V37I |
probably benign |
Het |
| Pcdhga1 |
T |
A |
18: 37,882,735 (GRCm39) |
|
probably null |
Het |
| Pck1 |
A |
G |
2: 172,998,860 (GRCm39) |
I373V |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,223,258 (GRCm39) |
N227S |
probably benign |
Het |
| Pianp |
T |
G |
6: 124,976,214 (GRCm39) |
S8A |
unknown |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,353,243 (GRCm39) |
N239K |
possibly damaging |
Het |
| Pls1 |
T |
A |
9: 95,669,140 (GRCm39) |
N27I |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,034,620 (GRCm39) |
*711Q |
probably null |
Het |
| Prkag3 |
A |
G |
1: 74,783,894 (GRCm39) |
F330L |
probably damaging |
Het |
| Prss56 |
A |
G |
1: 87,111,261 (GRCm39) |
D16G |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,769,794 (GRCm39) |
F255Y |
probably damaging |
Het |
| Retreg3 |
C |
T |
11: 100,997,216 (GRCm39) |
R88H |
possibly damaging |
Het |
| Rhag |
G |
A |
17: 41,139,286 (GRCm39) |
G74R |
probably damaging |
Het |
| Rybp |
A |
G |
6: 100,209,220 (GRCm39) |
S201P |
possibly damaging |
Het |
| S100a10 |
G |
A |
3: 93,471,602 (GRCm39) |
C62Y |
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,673 (GRCm39) |
S34C |
possibly damaging |
Het |
| Serpind1 |
A |
G |
16: 17,154,539 (GRCm39) |
D122G |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,254,076 (GRCm39) |
L242P |
probably damaging |
Het |
| Slc14a2 |
T |
A |
18: 78,198,803 (GRCm39) |
I776F |
probably damaging |
Het |
| Slc9a1 |
A |
G |
4: 133,139,580 (GRCm39) |
E266G |
probably damaging |
Het |
| Stard9 |
A |
T |
2: 120,524,289 (GRCm39) |
|
probably null |
Het |
| Stpg2 |
A |
G |
3: 138,924,098 (GRCm39) |
Y167C |
probably damaging |
Het |
| Tex264 |
T |
C |
9: 106,536,335 (GRCm39) |
E274G |
probably damaging |
Het |
| Tigd2 |
G |
A |
6: 59,188,564 (GRCm39) |
S477N |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,589,752 (GRCm39) |
L343P |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,975,680 (GRCm39) |
C246S |
possibly damaging |
Het |
| Vil1 |
G |
A |
1: 74,465,891 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
C |
G |
7: 41,916,205 (GRCm39) |
L273V |
not run |
Het |
| Vmn2r-ps158 |
T |
G |
7: 42,697,447 (GRCm39) |
C835G |
probably damaging |
Het |
| Zfp37 |
C |
A |
4: 62,110,236 (GRCm39) |
G317V |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,941,872 (GRCm39) |
K349R |
possibly damaging |
Het |
| Zyx |
A |
T |
6: 42,327,408 (GRCm39) |
E69V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTCTGGCCTAGGTGACC -3'
(R):5'- CTGTAGCAGTAGCATCCCTC -3'
Sequencing Primer
(F):5'- TGCTGCCTGACAATATCACAG -3'
(R):5'- GTAGCAGTAGCATCCCTCTTTTC -3'
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| Posted On |
2019-10-17 |
Incidental Mutation