Incidental Mutation 'R8914:Rap1gap2'
| ID |
678833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rap1gap2
|
| Ensembl Gene |
ENSMUSG00000038807 |
| Gene Name |
RAP1 GTPase activating protein 2 |
| Synonyms |
Garnl4, LOC380710 |
| MMRRC Submission |
068766-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8914 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
74274182-74501741 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 74326587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 160
(L160*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047488]
[ENSMUST00000102521]
[ENSMUST00000145524]
[ENSMUST00000208896]
|
| AlphaFold |
Q5SVL6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047488
AA Change: L220*
|
| SMART Domains |
Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: L220*
| 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
AA Change: L160*
|
| SMART Domains |
Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: L160*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| 5330417H12Rik |
C |
T |
7: 107,223,922 (GRCm39) |
E51K |
unknown |
Het |
| Akr1c20 |
T |
C |
13: 4,561,215 (GRCm39) |
D146G |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,000,843 (GRCm39) |
C205* |
probably null |
Het |
| Ap3s2 |
A |
G |
7: 79,564,911 (GRCm39) |
I86T |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp9a |
C |
T |
2: 168,479,420 (GRCm39) |
|
probably null |
Het |
| Bcl11b |
C |
A |
12: 107,883,163 (GRCm39) |
R384L |
probably damaging |
Het |
| Bltp3a |
T |
G |
17: 28,105,887 (GRCm39) |
D804E |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,208 (GRCm39) |
D1657E |
probably damaging |
Het |
| Cabyr |
C |
A |
18: 12,884,077 (GRCm39) |
T188N |
probably damaging |
Het |
| Capn5 |
C |
A |
7: 97,784,997 (GRCm39) |
W159L |
probably damaging |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,503,087 (GRCm39) |
Y206N |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,854,080 (GRCm39) |
S514T |
unknown |
Het |
| Cdk14 |
G |
T |
5: 5,086,515 (GRCm39) |
H286Q |
possibly damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,345,112 (GRCm39) |
H141Q |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,390,665 (GRCm39) |
S109P |
possibly damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,916,192 (GRCm39) |
R126* |
probably null |
Het |
| Dpys |
C |
A |
15: 39,720,619 (GRCm39) |
R47L |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,152,090 (GRCm39) |
V361A |
probably benign |
Het |
| Epha7 |
T |
G |
4: 28,963,892 (GRCm39) |
D962E |
probably damaging |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Fyb2 |
T |
C |
4: 104,857,700 (GRCm39) |
S626P |
probably benign |
Het |
| Gtpbp1 |
T |
A |
15: 79,600,393 (GRCm39) |
V442D |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,422,188 (GRCm39) |
I973F |
probably damaging |
Het |
| Igkv1-99 |
A |
C |
6: 68,519,340 (GRCm39) |
K99T |
|
Het |
| Igkv6-14 |
C |
T |
6: 70,412,180 (GRCm39) |
V35I |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Klk1b9 |
C |
T |
7: 43,628,925 (GRCm39) |
T143I |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Mettl15 |
A |
C |
2: 108,967,625 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,299,595 (GRCm39) |
V1813A |
|
Het |
| Mrps30 |
A |
G |
13: 118,523,755 (GRCm39) |
Y6H |
possibly damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,329,710 (GRCm39) |
I176K |
probably benign |
Het |
| Nckap5l |
C |
T |
15: 99,323,761 (GRCm39) |
G914D |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,363,089 (GRCm39) |
E930* |
probably null |
Het |
| Nuggc |
G |
A |
14: 65,879,354 (GRCm39) |
V705I |
probably benign |
Het |
| Omd |
A |
T |
13: 49,745,718 (GRCm39) |
K376M |
probably damaging |
Het |
| Or10a3n |
T |
C |
7: 108,492,736 (GRCm39) |
R298G |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4k42 |
C |
A |
2: 111,320,004 (GRCm39) |
L166F |
probably damaging |
Het |
| Or51l14 |
T |
A |
7: 103,101,090 (GRCm39) |
L182Q |
probably damaging |
Het |
| Or5g27 |
A |
G |
2: 85,410,056 (GRCm39) |
T158A |
possibly damaging |
Het |
| Or5p68 |
A |
G |
7: 107,945,759 (GRCm39) |
V143A |
probably benign |
Het |
| Or6c200-ps1 |
C |
A |
10: 128,871,372 (GRCm39) |
M2I |
probably benign |
Het |
| Pi15 |
A |
G |
1: 17,691,962 (GRCm39) |
Y217C |
probably damaging |
Het |
| Pou5f1 |
T |
C |
17: 35,821,371 (GRCm39) |
S328P |
probably benign |
Het |
| Pparg |
T |
A |
6: 115,440,133 (GRCm39) |
S236T |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,854 (GRCm39) |
T72A |
probably benign |
Het |
| Ptprb |
C |
A |
10: 116,158,567 (GRCm39) |
S546* |
probably null |
Het |
| Ranbp9 |
A |
G |
13: 43,578,560 (GRCm39) |
I171T |
probably benign |
Het |
| Rfxap |
T |
C |
3: 54,715,042 (GRCm39) |
T19A |
probably benign |
Het |
| Sctr |
T |
A |
1: 119,959,386 (GRCm39) |
F95I |
probably benign |
Het |
| Sf3b3 |
T |
A |
8: 111,540,439 (GRCm39) |
Q994L |
probably benign |
Het |
| Slfn9 |
A |
T |
11: 82,872,132 (GRCm39) |
I868N |
probably damaging |
Het |
| Top3a |
A |
T |
11: 60,631,405 (GRCm39) |
C986S |
probably damaging |
Het |
| Trak1 |
T |
A |
9: 121,272,847 (GRCm39) |
L245Q |
unknown |
Het |
| Trim27 |
A |
G |
13: 21,364,993 (GRCm39) |
D110G |
possibly damaging |
Het |
| Ubxn2a |
T |
C |
12: 4,930,754 (GRCm39) |
D202G |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,607,122 (GRCm39) |
K36R |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,293,604 (GRCm39) |
T252A |
|
Het |
| Vmn1r73 |
C |
A |
7: 11,490,328 (GRCm39) |
H49N |
probably damaging |
Het |
| Vmn2r117 |
C |
T |
17: 23,679,143 (GRCm39) |
V694I |
probably benign |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,983 (GRCm39) |
F853L |
probably benign |
Het |
| Vmn2r55 |
A |
T |
7: 12,405,024 (GRCm39) |
H126Q |
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 |
|
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'- TCCTGTACAACCAGATCAGACTG -3'
(R):5'- CCACAGTTTTGACTGGCTAGGG -3'
Sequencing Primer
(F):5'- ACTGGTCAGTCTGGTATTTCTC -3'
(R):5'- TCCTCTGGGTGAAAAAGTGAACTC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation