Incidental Mutation 'R5800:Rap1gap'
| ID |
447340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rap1gap
|
| Ensembl Gene |
ENSMUSG00000041351 |
| Gene Name |
Rap1 GTPase-activating protein |
| Synonyms |
Gap, 1300019I11Rik, 2310004O14Rik, Rap1ga1 |
| MMRRC Submission |
043389-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5800 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137392037-137457172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 137447688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 478
(D478E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047243]
[ENSMUST00000097837]
[ENSMUST00000105835]
[ENSMUST00000141306]
[ENSMUST00000150928]
[ENSMUST00000152567]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047243
AA Change: D478E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000042473
Gene: ENSMUSG00000041351
AA Change: D478E
| Domain | Start | End | E-Value | Type |
|---|
|
GoLoco
|
59 |
81 |
4.94e-10 |
SMART |
|
Pfam:Rap_GAP
|
274 |
461 |
1.4e-64 |
PFAM |
|
low complexity region
|
485 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
641 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
695 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097837
AA Change: D445E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095448
Gene: ENSMUSG00000041351
AA Change: D445E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
GoLoco
|
26 |
48 |
4.94e-10 |
SMART |
|
Pfam:Rap_GAP
|
241 |
428 |
1.2e-64 |
PFAM |
|
low complexity region
|
452 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105835
AA Change: D478E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101461
Gene: ENSMUSG00000041351
AA Change: D478E
| Domain | Start | End | E-Value | Type |
|---|
|
GoLoco
|
59 |
81 |
4.94e-10 |
SMART |
|
Pfam:Rap_GAP
|
274 |
455 |
4.5e-66 |
PFAM |
|
low complexity region
|
485 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
641 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139831
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141306
AA Change: D134E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122315
Gene: ENSMUSG00000041351
AA Change: D134E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rap_GAP
|
1 |
117 |
1.4e-32 |
PFAM |
|
low complexity region
|
141 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151601
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150928
|
| SMART Domains |
Protein: ENSMUSP00000123561
Gene: ENSMUSG00000041351
| Domain | Start | End | E-Value | Type |
|---|
|
GoLoco
|
59 |
81 |
4.94e-10 |
SMART |
|
Pfam:Rap_GAP
|
199 |
241 |
1.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152567
|
| SMART Domains |
Protein: ENSMUSP00000115391
Gene: ENSMUSG00000041351
| Domain | Start | End | E-Value | Type |
|---|
|
GoLoco
|
47 |
69 |
4.94e-10 |
SMART |
|
PDB:1SRQ|D
|
127 |
165 |
4e-20 |
PDB |
|
| Meta Mutation Damage Score |
0.0585 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
96% (50/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,360,591 (GRCm39) |
V540D |
possibly damaging |
Het |
| Adamts8 |
A |
T |
9: 30,865,778 (GRCm39) |
D442V |
probably damaging |
Het |
| B3galt9 |
T |
C |
2: 34,728,654 (GRCm39) |
F151S |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,106,592 (GRCm39) |
D4974G |
probably damaging |
Het |
| Casp4 |
G |
A |
9: 5,308,915 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
A |
1: 172,366,167 (GRCm39) |
V30E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,957,474 (GRCm39) |
F117L |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,686,175 (GRCm39) |
T1810S |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
| Drosha |
C |
A |
15: 12,902,733 (GRCm39) |
A1001D |
probably damaging |
Het |
| Efhc1 |
G |
A |
1: 21,049,005 (GRCm39) |
V473I |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,344,751 (GRCm39) |
K191R |
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,617,190 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
T |
12: 116,333,808 (GRCm39) |
D837V |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,742 (GRCm39) |
D126E |
possibly damaging |
Het |
| Fyttd1 |
C |
T |
16: 32,711,658 (GRCm39) |
R86C |
probably damaging |
Het |
| Gm12888 |
T |
A |
4: 121,176,625 (GRCm39) |
T59S |
probably damaging |
Het |
| Gm7353 |
A |
T |
7: 3,160,168 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr153 |
C |
T |
4: 152,364,534 (GRCm39) |
Q197* |
probably null |
Het |
| Grep1 |
G |
A |
17: 23,936,966 (GRCm39) |
P72S |
probably damaging |
Het |
| H2-T23 |
G |
T |
17: 36,342,496 (GRCm39) |
|
probably benign |
Het |
| Ighv1-16 |
T |
A |
12: 114,629,531 (GRCm39) |
R85S |
probably benign |
Het |
| Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
| Kdm1a |
T |
A |
4: 136,300,381 (GRCm39) |
|
probably null |
Het |
| Klk1b27 |
A |
T |
7: 43,705,088 (GRCm39) |
Q85L |
probably benign |
Het |
| Krt39 |
A |
T |
11: 99,411,971 (GRCm39) |
D38E |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,621,999 (GRCm39) |
L187P |
possibly damaging |
Het |
| Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
| Lyg1 |
C |
T |
1: 37,986,034 (GRCm39) |
D176N |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,836,678 (GRCm39) |
N82D |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,226,690 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
T |
C |
14: 56,108,088 (GRCm39) |
L1065P |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,449,260 (GRCm39) |
S309P |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 57,879,567 (GRCm39) |
S1041T |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,811,302 (GRCm39) |
M1518L |
probably benign |
Het |
| Prl8a6 |
G |
T |
13: 27,619,453 (GRCm39) |
Q90K |
probably benign |
Het |
| Ptcd1 |
T |
A |
5: 145,096,475 (GRCm39) |
D206V |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,330,732 (GRCm39) |
Y1269H |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,028,290 (GRCm39) |
H136L |
probably benign |
Het |
| Senp6 |
A |
T |
9: 80,033,715 (GRCm39) |
I120F |
probably damaging |
Het |
| Shisa5 |
G |
A |
9: 108,885,162 (GRCm39) |
|
probably null |
Het |
| Slc19a1 |
A |
G |
10: 76,878,103 (GRCm39) |
S213G |
probably null |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tbc1d20 |
T |
A |
2: 152,150,245 (GRCm39) |
|
probably null |
Het |
| Tll2 |
T |
C |
19: 41,093,373 (GRCm39) |
H481R |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,138,663 (GRCm39) |
V692A |
probably benign |
Het |
| Tmem234 |
T |
C |
4: 129,500,924 (GRCm39) |
|
probably null |
Het |
| Vmn1r237 |
C |
G |
17: 21,535,069 (GRCm39) |
T264S |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,260 (GRCm39) |
T253S |
probably benign |
Het |
| Zfyve27 |
T |
C |
19: 42,171,102 (GRCm39) |
Y191H |
probably damaging |
Het |
|
| Other mutations in Rap1gap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Rap1gap
|
APN |
4 |
137,443,835 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01810:Rap1gap
|
APN |
4 |
137,443,466 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01944:Rap1gap
|
APN |
4 |
137,452,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02117:Rap1gap
|
APN |
4 |
137,454,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02271:Rap1gap
|
APN |
4 |
137,445,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Rap1gap
|
APN |
4 |
137,443,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02590:Rap1gap
|
APN |
4 |
137,447,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02626:Rap1gap
|
APN |
4 |
137,454,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03211:Rap1gap
|
APN |
4 |
137,443,157 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0243:Rap1gap
|
UTSW |
4 |
137,446,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1239:Rap1gap
|
UTSW |
4 |
137,445,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1246:Rap1gap
|
UTSW |
4 |
137,439,405 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2264:Rap1gap
|
UTSW |
4 |
137,455,034 (GRCm39) |
missense |
probably benign |
|
|
R2935:Rap1gap
|
UTSW |
4 |
137,452,042 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3840:Rap1gap
|
UTSW |
4 |
137,444,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3841:Rap1gap
|
UTSW |
4 |
137,444,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Rap1gap
|
UTSW |
4 |
137,443,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4821:Rap1gap
|
UTSW |
4 |
137,439,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4998:Rap1gap
|
UTSW |
4 |
137,455,595 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5061:Rap1gap
|
UTSW |
4 |
137,447,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6259:Rap1gap
|
UTSW |
4 |
137,409,068 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7082:Rap1gap
|
UTSW |
4 |
137,446,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:Rap1gap
|
UTSW |
4 |
137,443,393 (GRCm39) |
splice site |
probably null |
|
|
R7234:Rap1gap
|
UTSW |
4 |
137,455,851 (GRCm39) |
nonsense |
probably null |
|
|
R7580:Rap1gap
|
UTSW |
4 |
137,447,293 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8097:Rap1gap
|
UTSW |
4 |
137,455,597 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8196:Rap1gap
|
UTSW |
4 |
137,445,275 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8278:Rap1gap
|
UTSW |
4 |
137,444,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Rap1gap
|
UTSW |
4 |
137,445,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Rap1gap
|
UTSW |
4 |
137,444,742 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9290:Rap1gap
|
UTSW |
4 |
137,446,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACCAGCACAGCTATCTG -3'
(R):5'- AAGCTCTGTCCTCAACCCTAGC -3'
Sequencing Primer
(F):5'- ATCTCTGGGGTCTCTCAT -3'
(R):5'- CAGTCGCATCTTCCCTCACAGAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation