Incidental Mutation 'IGL01932:Rap1b'
| ID |
180454 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rap1b
|
| Ensembl Gene |
ENSMUSG00000052681 |
| Gene Name |
RAS related protein 1b |
| Synonyms |
2810443E11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
IGL01932
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
117650502-117681879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117658765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 23
(F23I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064667]
[ENSMUST00000220214]
|
| AlphaFold |
Q99JI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064667
AA Change: F23I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066238
Gene: ENSMUSG00000052681
AA Change: F23I
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
168 |
2.4e-122 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220214
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display partial embryonic and perinatal lethality, abdominal, cranial, and hepatic bleeding in mice that die in utero, reduced platelet aggregation, and decreased thrombus formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,050,565 (GRCm39) |
|
probably benign |
Het |
| Adipor2 |
G |
A |
6: 119,338,825 (GRCm39) |
H143Y |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,738,146 (GRCm39) |
I12T |
probably benign |
Het |
| Ankdd1a |
C |
T |
9: 65,414,893 (GRCm39) |
|
probably benign |
Het |
| Cadps |
A |
G |
14: 12,373,609 (GRCm38) |
|
probably benign |
Het |
| Cdh22 |
G |
A |
2: 165,012,728 (GRCm39) |
T119M |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,566,825 (GRCm39) |
K2223N |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,156,005 (GRCm39) |
|
probably benign |
Het |
| Ezh2 |
T |
C |
6: 47,508,982 (GRCm39) |
T674A |
probably damaging |
Het |
| Ffar4 |
A |
G |
19: 38,085,978 (GRCm39) |
E135G |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,824,349 (GRCm39) |
R6694Q |
possibly damaging |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm4222 |
A |
G |
2: 89,978,801 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
T |
A |
2: 104,301,326 (GRCm39) |
N289Y |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,503,705 (GRCm39) |
L1003P |
probably damaging |
Het |
| Mdk |
T |
C |
2: 91,761,461 (GRCm39) |
N72S |
probably damaging |
Het |
| Or2at4 |
T |
A |
7: 99,384,707 (GRCm39) |
I119N |
probably damaging |
Het |
| Or52n2 |
T |
A |
7: 104,542,425 (GRCm39) |
I137F |
probably damaging |
Het |
| Pafah1b3 |
A |
T |
7: 24,996,516 (GRCm39) |
C56S |
probably benign |
Het |
| Pdzrn4 |
A |
G |
15: 92,644,159 (GRCm39) |
I189V |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,884,689 (GRCm39) |
N801S |
probably benign |
Het |
| Pramel7 |
A |
T |
2: 87,321,457 (GRCm39) |
S193T |
possibly damaging |
Het |
| Prkag1 |
A |
G |
15: 98,712,412 (GRCm39) |
I171T |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,350,910 (GRCm39) |
N73S |
probably benign |
Het |
| Scamp2 |
A |
G |
9: 57,468,399 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,714,818 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r17 |
A |
T |
5: 109,574,916 (GRCm39) |
R74S |
probably benign |
Het |
| Wif1 |
G |
T |
10: 120,931,940 (GRCm39) |
C288F |
probably damaging |
Het |
|
| Other mutations in Rap1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02539:Rap1b
|
APN |
10 |
117,658,709 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03286:Rap1b
|
APN |
10 |
117,654,480 (GRCm39) |
nonsense |
probably null |
|
|
R0591:Rap1b
|
UTSW |
10 |
117,654,522 (GRCm39) |
unclassified |
probably benign |
|
|
R1939:Rap1b
|
UTSW |
10 |
117,654,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Rap1b
|
UTSW |
10 |
117,654,444 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2902:Rap1b
|
UTSW |
10 |
117,660,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Rap1b
|
UTSW |
10 |
117,654,487 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5131:Rap1b
|
UTSW |
10 |
117,660,516 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6084:Rap1b
|
UTSW |
10 |
117,660,516 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6186:Rap1b
|
UTSW |
10 |
117,656,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Rap1b
|
UTSW |
10 |
117,658,713 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7026:Rap1b
|
UTSW |
10 |
117,654,384 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7530:Rap1b
|
UTSW |
10 |
117,653,357 (GRCm39) |
nonsense |
probably null |
|
|
R8069:Rap1b
|
UTSW |
10 |
117,657,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8686:Rap1b
|
UTSW |
10 |
117,658,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Rap1b
|
UTSW |
10 |
117,654,391 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2014-05-07 |
Incidental Mutation