Incidental Mutation 'R6647:Rap1gap2'
ID |
526143 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rap1gap2
|
Ensembl Gene |
ENSMUSG00000038807 |
Gene Name |
RAP1 GTPase activating protein 2 |
Synonyms |
Garnl4, LOC380710 |
MMRRC Submission |
044768-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6647 (G1)
|
Quality Score |
206.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
74274182-74501741 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 74298754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 452
(A452V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047488]
[ENSMUST00000102521]
|
AlphaFold |
Q5SVL6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047488
AA Change: A452V
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000040180 Gene: ENSMUSG00000038807 AA Change: A452V
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: A392V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000099580 Gene: ENSMUSG00000038807 AA Change: A392V
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
Validation Efficiency |
98% (53/54) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
T |
C |
3: 116,544,060 (GRCm39) |
T1416A |
probably damaging |
Het |
Atp7b |
A |
G |
8: 22,518,494 (GRCm39) |
S103P |
probably damaging |
Het |
Ces1h |
A |
C |
8: 94,078,654 (GRCm39) |
*563G |
probably null |
Het |
Cfap157 |
G |
T |
2: 32,669,086 (GRCm39) |
A339E |
probably benign |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Cyp2b13 |
A |
G |
7: 25,785,324 (GRCm39) |
H231R |
possibly damaging |
Het |
Ddx31 |
A |
T |
2: 28,765,750 (GRCm39) |
T483S |
probably damaging |
Het |
Defa25 |
A |
T |
8: 21,575,201 (GRCm39) |
D60V |
possibly damaging |
Het |
Dnah5 |
G |
A |
15: 28,403,633 (GRCm39) |
A3453T |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,115,743 (GRCm39) |
F1500I |
probably damaging |
Het |
Eprs1 |
C |
T |
1: 185,146,621 (GRCm39) |
A1217V |
probably damaging |
Het |
Ermp1 |
T |
C |
19: 29,604,335 (GRCm39) |
Y481C |
probably benign |
Het |
Fmn2 |
T |
A |
1: 174,420,670 (GRCm39) |
N635K |
unknown |
Het |
Fras1 |
A |
G |
5: 96,883,061 (GRCm39) |
D2531G |
probably damaging |
Het |
Frat1 |
C |
T |
19: 41,819,264 (GRCm39) |
Q220* |
probably null |
Het |
Gcc2 |
T |
A |
10: 58,123,103 (GRCm39) |
|
probably null |
Het |
Gm3285 |
T |
C |
10: 77,698,447 (GRCm39) |
|
probably benign |
Het |
Gm9857 |
T |
C |
3: 108,847,379 (GRCm39) |
|
probably benign |
Het |
Grin2b |
C |
A |
6: 135,710,108 (GRCm39) |
W1146L |
probably damaging |
Het |
Hells |
T |
A |
19: 38,919,948 (GRCm39) |
L33I |
probably benign |
Het |
Ift81 |
T |
A |
5: 122,748,229 (GRCm39) |
R54* |
probably null |
Het |
Ints12 |
G |
A |
3: 132,802,639 (GRCm39) |
R41Q |
possibly damaging |
Het |
Katnal2 |
C |
T |
18: 77,067,733 (GRCm39) |
E403K |
probably benign |
Het |
Kcnk1 |
A |
G |
8: 126,722,199 (GRCm39) |
M1V |
probably null |
Het |
Kdm5a |
A |
G |
6: 120,389,422 (GRCm39) |
T950A |
probably benign |
Het |
Kdr |
G |
A |
5: 76,113,549 (GRCm39) |
A773V |
probably damaging |
Het |
Lats1 |
G |
C |
10: 7,573,271 (GRCm39) |
M118I |
possibly damaging |
Het |
Mug1 |
A |
G |
6: 121,817,200 (GRCm39) |
I90V |
probably benign |
Het |
Nid2 |
A |
G |
14: 19,852,484 (GRCm39) |
D1064G |
probably benign |
Het |
Nkx2-4 |
A |
T |
2: 146,926,187 (GRCm39) |
I225N |
possibly damaging |
Het |
Nlrp4e |
A |
G |
7: 23,020,740 (GRCm39) |
D409G |
probably benign |
Het |
Ogfod2 |
G |
C |
5: 124,252,866 (GRCm39) |
R292P |
possibly damaging |
Het |
Oprk1 |
C |
T |
1: 5,672,507 (GRCm39) |
P215S |
probably damaging |
Het |
Or5d36 |
A |
T |
2: 87,901,053 (GRCm39) |
F224L |
probably benign |
Het |
Or6c35 |
T |
A |
10: 129,169,033 (GRCm39) |
C94* |
probably null |
Het |
Or7g27 |
T |
A |
9: 19,249,925 (GRCm39) |
H56Q |
possibly damaging |
Het |
Or8g21 |
T |
C |
9: 38,906,210 (GRCm39) |
I174V |
possibly damaging |
Het |
Pcdhb16 |
A |
G |
18: 37,612,225 (GRCm39) |
K395R |
possibly damaging |
Het |
Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
Pycard |
T |
C |
7: 127,592,741 (GRCm39) |
T29A |
probably benign |
Het |
Rasgrf1 |
C |
G |
9: 89,892,516 (GRCm39) |
T1072S |
probably benign |
Het |
Rc3h2 |
G |
A |
2: 37,272,956 (GRCm39) |
R707* |
probably null |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Senp7 |
T |
C |
16: 55,993,618 (GRCm39) |
I767T |
probably damaging |
Het |
Setd7 |
A |
G |
3: 51,450,183 (GRCm39) |
V81A |
probably benign |
Het |
Shisal2a |
A |
G |
4: 108,225,224 (GRCm39) |
S113P |
probably benign |
Het |
Shkbp1 |
A |
G |
7: 27,041,800 (GRCm39) |
S685P |
probably benign |
Het |
Snrnp200 |
A |
G |
2: 127,068,372 (GRCm39) |
E904G |
probably damaging |
Het |
Spata22 |
T |
A |
11: 73,245,526 (GRCm39) |
|
probably null |
Het |
Spata31e2 |
T |
A |
1: 26,721,659 (GRCm39) |
N1174Y |
probably damaging |
Het |
Tas2r138 |
G |
T |
6: 40,589,733 (GRCm39) |
T171K |
possibly damaging |
Het |
Tor1aip1 |
T |
C |
1: 155,893,999 (GRCm39) |
D77G |
possibly damaging |
Het |
Vav3 |
A |
T |
3: 109,434,732 (GRCm39) |
H421L |
probably benign |
Het |
Vmn1r43 |
A |
G |
6: 89,846,841 (GRCm39) |
L215P |
probably damaging |
Het |
Vmn2r100 |
T |
A |
17: 19,742,785 (GRCm39) |
S386R |
probably benign |
Het |
Xpa |
T |
A |
4: 46,183,089 (GRCm39) |
R233S |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAAGGGCCACATTGACCTC -3'
(R):5'- CCACTAGAGGAGCATCGTATG -3'
Sequencing Primer
(F):5'- GCCACATTGACCTCAAAGGGTG -3'
(R):5'- AGGAGCATCGTATGGGGCTC -3'
|
Posted On |
2018-06-22 |