Incidental Mutation 'R4426:Rap1gap2'
| ID |
328189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rap1gap2
|
| Ensembl Gene |
ENSMUSG00000038807 |
| Gene Name |
RAP1 GTPase activating protein 2 |
| Synonyms |
Garnl4, LOC380710 |
| MMRRC Submission |
041697-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4426 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
74274182-74501741 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 74298148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 491
(A491S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047488]
[ENSMUST00000102521]
|
| AlphaFold |
Q5SVL6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047488
AA Change: A491S
PolyPhen 2
Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: A491S
| 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: A431S
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: A431S
| 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
|
| Meta Mutation Damage Score |
0.2916 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Albfm1 |
G |
T |
5: 90,720,642 (GRCm39) |
C271F |
probably damaging |
Het |
| Arhgef39 |
C |
T |
4: 43,497,112 (GRCm39) |
G293E |
possibly damaging |
Het |
| Atp8a1 |
A |
C |
5: 67,932,171 (GRCm39) |
I206S |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,980,026 (GRCm39) |
R290* |
probably null |
Het |
| Ccdc137 |
T |
C |
11: 120,351,074 (GRCm39) |
S159P |
probably damaging |
Het |
| Chil5 |
A |
G |
3: 105,926,943 (GRCm39) |
S231P |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,993,433 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,532,581 (GRCm39) |
V2434A |
possibly damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,718,381 (GRCm39) |
|
probably benign |
Het |
| Eif4e1b |
T |
C |
13: 54,932,296 (GRCm39) |
S49P |
probably benign |
Het |
| Far1 |
C |
A |
7: 113,149,208 (GRCm39) |
P194Q |
probably benign |
Het |
| Fut4 |
T |
C |
9: 14,662,677 (GRCm39) |
T206A |
possibly damaging |
Het |
| Galnt7 |
G |
T |
8: 58,005,606 (GRCm39) |
S209* |
probably null |
Het |
| Gas2l1 |
A |
G |
11: 5,013,908 (GRCm39) |
V184A |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,403,287 (GRCm39) |
L4402P |
probably damaging |
Het |
| Hoxa13 |
C |
A |
6: 52,237,714 (GRCm39) |
|
probably benign |
Het |
| Ighv1-9 |
T |
A |
12: 114,547,416 (GRCm39) |
K42* |
probably null |
Het |
| Kif20a |
C |
T |
18: 34,764,994 (GRCm39) |
R743W |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,298,554 (GRCm39) |
R181C |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,336,692 (GRCm39) |
T1360K |
probably benign |
Het |
| Map4k1 |
G |
A |
7: 28,688,020 (GRCm39) |
V177I |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,989,800 (GRCm39) |
T352I |
probably damaging |
Het |
| Nde1 |
A |
G |
16: 14,006,200 (GRCm39) |
T82A |
possibly damaging |
Het |
| Nes |
A |
G |
3: 87,883,349 (GRCm39) |
E536G |
probably damaging |
Het |
| Nms |
C |
T |
1: 38,978,377 (GRCm39) |
P4L |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,293 (GRCm39) |
Q1088R |
possibly damaging |
Het |
| Nwd1 |
A |
G |
8: 73,393,423 (GRCm39) |
K229E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,018 (GRCm39) |
L171P |
probably damaging |
Het |
| Or52ad1 |
A |
G |
7: 102,995,290 (GRCm39) |
Y282H |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,277,796 (GRCm39) |
S259T |
probably benign |
Het |
| Pdcd5 |
T |
C |
7: 35,345,605 (GRCm39) |
D102G |
possibly damaging |
Het |
| Pgm1 |
T |
C |
4: 99,819,337 (GRCm39) |
V169A |
probably benign |
Het |
| Pitpnm2 |
C |
T |
5: 124,280,186 (GRCm39) |
E121K |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,593,555 (GRCm39) |
Y53C |
probably damaging |
Het |
| Poc1b |
T |
C |
10: 98,991,001 (GRCm39) |
|
probably null |
Het |
| Polr2c |
A |
T |
8: 95,590,090 (GRCm39) |
N232Y |
probably damaging |
Het |
| Ppp1r9b |
A |
T |
11: 94,892,150 (GRCm39) |
R188S |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,967,539 (GRCm39) |
S141N |
probably damaging |
Het |
| Radx |
T |
C |
X: 138,381,645 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rnf166 |
A |
G |
8: 123,196,979 (GRCm39) |
L91P |
probably damaging |
Het |
| Robo2 |
T |
A |
16: 73,745,154 (GRCm39) |
M200L |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,418,147 (GRCm39) |
H988Q |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,908,192 (GRCm39) |
K69R |
probably null |
Het |
| Sgce |
G |
A |
6: 4,691,459 (GRCm39) |
A295V |
probably damaging |
Het |
| Shc3 |
C |
G |
13: 51,634,130 (GRCm39) |
|
probably null |
Het |
| Slc44a1 |
T |
C |
4: 53,563,286 (GRCm39) |
V671A |
probably benign |
Het |
| Sptbn4 |
A |
C |
7: 27,123,223 (GRCm39) |
L233R |
probably damaging |
Het |
| Stx5a |
A |
G |
19: 8,727,104 (GRCm39) |
T252A |
probably benign |
Het |
| Timd6 |
T |
A |
11: 46,475,247 (GRCm39) |
F147L |
probably benign |
Het |
| Tmem87b |
C |
T |
2: 128,688,670 (GRCm39) |
A485V |
probably benign |
Het |
| Tns1 |
A |
G |
1: 74,024,908 (GRCm39) |
I403T |
probably damaging |
Het |
| Ttll10 |
G |
C |
4: 156,133,018 (GRCm39) |
T22R |
possibly damaging |
Het |
| Uevld |
A |
T |
7: 46,589,890 (GRCm39) |
S293T |
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,757,264 (GRCm39) |
N467D |
probably damaging |
Het |
| Vmn1r39 |
A |
T |
6: 66,782,345 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
A |
G |
17: 20,505,641 (GRCm39) |
S18P |
probably benign |
Het |
| Vmn2r61 |
A |
T |
7: 41,950,157 (GRCm39) |
H859L |
probably benign |
Het |
| Vmn2r61 |
T |
C |
7: 41,950,159 (GRCm39) |
S860P |
probably benign |
Het |
| Vmn2r72 |
G |
A |
7: 85,387,036 (GRCm39) |
R843* |
probably null |
Het |
| Vwc2 |
A |
G |
11: 11,104,235 (GRCm39) |
T256A |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,960,516 (GRCm39) |
D25G |
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 |
|
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 |
|
|
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'- GCAAGACCTGGACATACTACATG -3'
(R):5'- GTTGGTACATTAGCAGGCAGG -3'
Sequencing Primer
(F):5'- GGCAGGTAAGTCCTAGAATC -3'
(R):5'- CTGGCCTTGGCTGGAAATGAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation