Incidental Mutation 'R4621:Rap1gap2'
| ID |
346168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rap1gap2
|
| Ensembl Gene |
ENSMUSG00000038807 |
| Gene Name |
RAP1 GTPase activating protein 2 |
| Synonyms |
Garnl4, LOC380710 |
| MMRRC Submission |
041886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4621 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
74274182-74501741 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 74326525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047488]
[ENSMUST00000102521]
[ENSMUST00000102521]
[ENSMUST00000145524]
[ENSMUST00000208896]
|
| AlphaFold |
Q5SVL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047488
|
| SMART Domains |
Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
| 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 null
Transcript: ENSMUST00000102521
|
| SMART Domains |
Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
| 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 null
Transcript: ENSMUST00000102521
|
| SMART Domains |
Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
| 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
|
| Meta Mutation Damage Score |
0.9485 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (90/90) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
C |
7: 78,975,235 (GRCm39) |
Y142H |
probably damaging |
Het |
| Abra |
C |
T |
15: 41,732,620 (GRCm39) |
D149N |
probably benign |
Het |
| Acin1 |
A |
T |
14: 54,890,900 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
T |
A |
11: 80,064,899 (GRCm39) |
|
probably null |
Het |
| Afdn |
A |
G |
17: 14,109,082 (GRCm39) |
E1535G |
probably damaging |
Het |
| Ajm1 |
G |
A |
2: 25,468,412 (GRCm39) |
P500S |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,282,887 (GRCm39) |
N1218D |
possibly damaging |
Het |
| Angptl1 |
G |
A |
1: 156,672,494 (GRCm39) |
V107M |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,032,894 (GRCm39) |
|
probably benign |
Het |
| Cage1 |
A |
C |
13: 38,209,477 (GRCm39) |
S61A |
possibly damaging |
Het |
| Cdadc1 |
T |
C |
14: 59,824,004 (GRCm39) |
T163A |
probably benign |
Het |
| Celsr2 |
A |
T |
3: 108,302,532 (GRCm39) |
V2568D |
possibly damaging |
Het |
| Cep44 |
G |
A |
8: 56,995,951 (GRCm39) |
T166M |
probably damaging |
Het |
| Cnksr3 |
T |
C |
10: 7,076,182 (GRCm39) |
K187E |
possibly damaging |
Het |
| Cyp20a1 |
A |
G |
1: 60,415,258 (GRCm39) |
T295A |
probably benign |
Het |
| Dus2 |
T |
A |
8: 106,757,074 (GRCm39) |
M88K |
probably damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,070 (GRCm39) |
|
probably benign |
Het |
| Ecrg4 |
G |
A |
1: 43,776,412 (GRCm39) |
|
probably null |
Het |
| Efna5 |
T |
C |
17: 62,958,040 (GRCm39) |
D72G |
probably benign |
Het |
| Epb41l2 |
T |
C |
10: 25,378,038 (GRCm39) |
|
probably null |
Het |
| Espn |
A |
G |
4: 152,215,709 (GRCm39) |
S408P |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,252,909 (GRCm39) |
|
probably benign |
Het |
| F830016B08Rik |
G |
A |
18: 60,433,939 (GRCm39) |
V341I |
probably benign |
Het |
| Flii |
A |
G |
11: 60,606,937 (GRCm39) |
L1013P |
possibly damaging |
Het |
| Fndc10 |
G |
A |
4: 155,779,264 (GRCm39) |
V103M |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,395,820 (GRCm39) |
|
probably null |
Het |
| Gltp |
C |
T |
5: 114,812,188 (GRCm39) |
R106Q |
probably damaging |
Het |
| Gtf3c3 |
A |
G |
1: 54,458,575 (GRCm39) |
Y449H |
probably damaging |
Het |
| H1f9 |
G |
A |
11: 94,858,986 (GRCm39) |
V94M |
probably damaging |
Het |
| Hmga1b |
T |
C |
11: 120,653,866 (GRCm39) |
V51A |
probably damaging |
Het |
| Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
| Igkv13-84 |
T |
C |
6: 68,916,783 (GRCm39) |
S27P |
possibly damaging |
Het |
| Il15ra |
A |
G |
2: 11,723,140 (GRCm39) |
N55D |
possibly damaging |
Het |
| Kctd19 |
T |
G |
8: 106,123,103 (GRCm39) |
N104H |
probably damaging |
Het |
| Kif27 |
T |
G |
13: 58,478,827 (GRCm39) |
D572A |
probably benign |
Het |
| Larp1b |
G |
A |
3: 40,918,424 (GRCm39) |
G22R |
possibly damaging |
Het |
| Lcn2 |
A |
T |
2: 32,274,655 (GRCm39) |
|
probably benign |
Het |
| Lmtk2 |
T |
A |
5: 144,111,752 (GRCm39) |
I824N |
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,856,122 (GRCm39) |
I707T |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,266,141 (GRCm39) |
|
probably null |
Het |
| Magel2 |
A |
T |
7: 62,027,486 (GRCm39) |
H130L |
unknown |
Het |
| Mcoln1 |
A |
G |
8: 3,555,923 (GRCm39) |
I73V |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mycbp2 |
G |
T |
14: 103,457,415 (GRCm39) |
T1627K |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,177,084 (GRCm39) |
E412G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,778,355 (GRCm39) |
D1370E |
probably benign |
Het |
| Ndufaf5 |
A |
G |
2: 140,025,845 (GRCm39) |
T135A |
probably benign |
Het |
| Neb |
G |
A |
2: 52,161,051 (GRCm39) |
Q2207* |
probably null |
Het |
| Nek3 |
T |
C |
8: 22,647,055 (GRCm39) |
Y160C |
probably damaging |
Het |
| Or2y6 |
G |
C |
11: 52,104,706 (GRCm39) |
L37V |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,469 (GRCm39) |
I201N |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,105,279 (GRCm39) |
I245V |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,125,079 (GRCm39) |
I241V |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,213 (GRCm39) |
Q453R |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,980 (GRCm39) |
T318A |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,319,462 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
C |
T |
6: 23,001,453 (GRCm39) |
A1181V |
possibly damaging |
Het |
| Racgap1 |
C |
A |
15: 99,524,087 (GRCm39) |
S440I |
probably benign |
Het |
| Rbm5 |
A |
G |
9: 107,631,345 (GRCm39) |
V244A |
probably damaging |
Het |
| Rexo5 |
T |
G |
7: 119,418,722 (GRCm39) |
I254R |
probably benign |
Het |
| Robo2 |
A |
T |
16: 73,782,821 (GRCm39) |
S316T |
probably benign |
Het |
| Satb2 |
A |
T |
1: 56,884,778 (GRCm39) |
V382E |
probably damaging |
Het |
| Scg2 |
C |
T |
1: 79,414,381 (GRCm39) |
R114Q |
probably benign |
Het |
| Scube2 |
T |
C |
7: 109,399,857 (GRCm39) |
D893G |
possibly damaging |
Het |
| Snrpn |
T |
C |
7: 59,637,274 (GRCm39) |
D14G |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,010,559 (GRCm39) |
T2018A |
probably benign |
Het |
| Spata9 |
T |
G |
13: 76,116,001 (GRCm39) |
F17V |
possibly damaging |
Het |
| Supt6 |
A |
G |
11: 78,103,572 (GRCm39) |
Y1378H |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,358,652 (GRCm39) |
S29P |
possibly damaging |
Het |
| Tmem59 |
A |
T |
4: 107,047,915 (GRCm39) |
|
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,227,905 (GRCm39) |
S81P |
probably benign |
Het |
| Togaram1 |
A |
T |
12: 65,029,224 (GRCm39) |
E882D |
possibly damaging |
Het |
| Trbj2-4 |
T |
A |
6: 41,520,308 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
A |
9: 97,245,201 (GRCm39) |
Y533F |
probably benign |
Het |
| Tssk5 |
C |
T |
15: 76,256,668 (GRCm39) |
R280Q |
probably benign |
Het |
| Vmn1r82 |
A |
G |
7: 12,039,263 (GRCm39) |
T179A |
possibly damaging |
Het |
| Yipf7 |
T |
A |
5: 69,676,704 (GRCm39) |
Q145L |
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 |
|
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'- AAGTTCTGGCCTAGGTGACC -3'
(R):5'- TTCTCCCATCTGGTGAAGGAGG -3'
Sequencing Primer
(F):5'- TAGGTGACCCTGAGGCTCAG -3'
(R):5'- CCCATCTGGTGAAGGAGGTGATATG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation