Incidental Mutation 'R9600:Rap1gap2'
ID |
723687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rap1gap2
|
Ensembl Gene |
ENSMUSG00000038807 |
Gene Name |
RAP1 GTPase activating protein 2 |
Synonyms |
Garnl4, LOC380710 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9600 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
74274182-74501741 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74283954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 615
(N615D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099580
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047488]
[ENSMUST00000102521]
|
AlphaFold |
Q5SVL6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047488
AA Change: N675D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000040180 Gene: ENSMUSG00000038807 AA Change: N675D
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: N615D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000099580 Gene: ENSMUSG00000038807 AA Change: N615D
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
A |
G |
11: 80,261,197 (GRCm39) |
V210A |
probably damaging |
Het |
Abcc9 |
G |
A |
6: 142,536,102 (GRCm39) |
A1544V |
possibly damaging |
Het |
Akap6 |
A |
G |
12: 52,933,341 (GRCm39) |
T278A |
probably benign |
Het |
Arfgef1 |
T |
A |
1: 10,233,977 (GRCm39) |
I1106F |
probably benign |
Het |
Armc7 |
T |
C |
11: 115,367,038 (GRCm39) |
L61S |
probably damaging |
Het |
Atp1a3 |
G |
A |
7: 24,700,027 (GRCm39) |
T111M |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,095,565 (GRCm39) |
K1103* |
probably null |
Het |
Cacna2d4 |
T |
A |
6: 119,322,023 (GRCm39) |
S962R |
probably benign |
Het |
Camsap2 |
T |
C |
1: 136,204,936 (GRCm39) |
T526A |
|
Het |
Casq2 |
A |
T |
3: 102,052,622 (GRCm39) |
D378V |
unknown |
Het |
Chst8 |
C |
T |
7: 34,374,646 (GRCm39) |
D398N |
possibly damaging |
Het |
Cmya5 |
C |
T |
13: 93,226,604 (GRCm39) |
G2828D |
probably damaging |
Het |
Cntnap2 |
T |
A |
6: 45,969,009 (GRCm39) |
N250K |
probably damaging |
Het |
Cpne5 |
T |
C |
17: 29,380,520 (GRCm39) |
N401D |
probably damaging |
Het |
Cse1l |
A |
G |
2: 166,757,119 (GRCm39) |
N7S |
probably damaging |
Het |
Cyp4f39 |
G |
A |
17: 32,705,920 (GRCm39) |
G337D |
probably damaging |
Het |
Dera |
C |
T |
6: 137,814,135 (GRCm39) |
R308C |
probably benign |
Het |
Drd5 |
T |
A |
5: 38,478,174 (GRCm39) |
I389N |
possibly damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,433,237 (GRCm39) |
T107A |
probably damaging |
Het |
Fbxw22 |
C |
A |
9: 109,212,986 (GRCm39) |
L320F |
probably damaging |
Het |
Fndc3b |
G |
T |
3: 27,552,941 (GRCm39) |
T352K |
probably damaging |
Het |
Gm36864 |
T |
A |
7: 43,886,275 (GRCm39) |
I169K |
unknown |
Het |
Hdac4 |
A |
T |
1: 91,889,277 (GRCm39) |
D749E |
probably damaging |
Het |
Herc1 |
C |
T |
9: 66,304,594 (GRCm39) |
A805V |
possibly damaging |
Het |
Hrh1 |
A |
G |
6: 114,457,453 (GRCm39) |
K245E |
probably benign |
Het |
Khdc1a |
A |
G |
1: 21,421,204 (GRCm39) |
T130A |
probably benign |
Het |
Lrp5 |
C |
G |
19: 3,641,712 (GRCm39) |
A1417P |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,365,002 (GRCm39) |
Q3253R |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,684,723 (GRCm39) |
L811* |
probably null |
Het |
Mettl8 |
T |
C |
2: 70,812,383 (GRCm39) |
D84G |
possibly damaging |
Het |
Miga1 |
T |
G |
3: 151,993,186 (GRCm39) |
T412P |
probably benign |
Het |
Mtor |
G |
T |
4: 148,632,092 (GRCm39) |
R2322L |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,567,147 (GRCm39) |
N1791D |
unknown |
Het |
Myo9b |
C |
G |
8: 71,743,075 (GRCm39) |
S45R |
possibly damaging |
Het |
Nup50l |
A |
T |
6: 96,142,156 (GRCm39) |
L296Q |
possibly damaging |
Het |
Olfm4 |
T |
C |
14: 80,243,747 (GRCm39) |
F105S |
probably damaging |
Het |
Or5af2 |
A |
T |
11: 58,708,370 (GRCm39) |
I179F |
possibly damaging |
Het |
Osbpl1a |
T |
C |
18: 13,015,277 (GRCm39) |
I384V |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,030,435 (GRCm39) |
L1131P |
|
Het |
Pex6 |
T |
A |
17: 47,035,322 (GRCm39) |
V827E |
probably damaging |
Het |
Plek |
A |
C |
11: 16,940,119 (GRCm39) |
S197A |
probably benign |
Het |
Pmpca |
T |
C |
2: 26,282,598 (GRCm39) |
Y269H |
probably benign |
Het |
Pop1 |
T |
C |
15: 34,512,881 (GRCm39) |
I493T |
probably benign |
Het |
Rtp3 |
T |
C |
9: 110,815,198 (GRCm39) |
Y389C |
unknown |
Het |
Rusf1 |
T |
A |
7: 127,875,676 (GRCm39) |
D253V |
possibly damaging |
Het |
Sardh |
T |
C |
2: 27,120,513 (GRCm39) |
Q423R |
probably benign |
Het |
Slc11a1 |
T |
C |
1: 74,422,688 (GRCm39) |
|
probably null |
Het |
Slc5a4b |
T |
C |
10: 75,896,239 (GRCm39) |
D572G |
probably damaging |
Het |
Slco1a8 |
T |
G |
6: 141,949,234 (GRCm39) |
|
probably null |
Het |
Slfn14 |
A |
G |
11: 83,170,048 (GRCm39) |
V532A |
probably benign |
Het |
Spmip10 |
T |
C |
18: 56,725,450 (GRCm39) |
W37R |
probably benign |
Het |
Stxbp1 |
T |
C |
2: 32,701,120 (GRCm39) |
Y264C |
possibly damaging |
Het |
Syce1l |
T |
C |
8: 114,381,750 (GRCm39) |
I230T |
unknown |
Het |
Taf5l |
T |
C |
8: 124,730,173 (GRCm39) |
Y172C |
|
Het |
Trpc4 |
A |
T |
3: 54,102,248 (GRCm39) |
K49* |
probably null |
Het |
Ttc13 |
A |
G |
8: 125,415,284 (GRCm39) |
V285A |
probably benign |
Het |
Ttc17 |
A |
T |
2: 94,204,890 (GRCm39) |
L344Q |
probably damaging |
Het |
Unc79 |
A |
G |
12: 103,135,972 (GRCm39) |
H2469R |
probably benign |
Het |
Xkr7 |
A |
G |
2: 152,896,393 (GRCm39) |
I416V |
probably benign |
Het |
Zeb2 |
C |
A |
2: 44,987,180 (GRCm39) |
D35Y |
unknown |
Het |
Zfp28 |
A |
G |
7: 6,397,917 (GRCm39) |
H784R |
probably benign |
Het |
Zfp644 |
A |
C |
5: 106,783,909 (GRCm39) |
S848R |
probably benign |
Het |
Zfp809 |
G |
A |
9: 22,150,384 (GRCm39) |
E294K |
possibly damaging |
Het |
Zfp820 |
A |
G |
17: 22,038,861 (GRCm39) |
Y156H |
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 |
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 |
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'- CAGAGTATGACCAGCTAGGC -3'
(R):5'- AGCTCTCCAGAAATTTGTCCC -3'
Sequencing Primer
(F):5'- CAGGTAAGTAAAATCCTTCTGTGGCC -3'
(R):5'- GCAAGCGCAGTTTTCTG -3'
|
Posted On |
2022-09-12 |