Incidental Mutation 'R2326:Rassf2'
ID |
244904 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rassf2
|
Ensembl Gene |
ENSMUSG00000027339 |
Gene Name |
Ras association (RalGDS/AF-6) domain family member 2 |
Synonyms |
3830431H01Rik, 9030412M04Rik |
MMRRC Submission |
040317-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
R2326 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
131834770-131872336 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 131842352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099471
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028814]
[ENSMUST00000103182]
[ENSMUST00000139047]
|
AlphaFold |
Q8BMS9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028814
|
SMART Domains |
Protein: ENSMUSP00000028814 Gene: ENSMUSG00000027339
Domain | Start | End | E-Value | Type |
RA
|
174 |
265 |
5.33e-18 |
SMART |
coiled coil region
|
292 |
312 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103182
|
SMART Domains |
Protein: ENSMUSP00000099471 Gene: ENSMUSG00000027339
Domain | Start | End | E-Value | Type |
RA
|
174 |
265 |
5.33e-18 |
SMART |
Pfam:Nore1-SARAH
|
277 |
316 |
3.9e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139047
|
SMART Domains |
Protein: ENSMUSP00000120194 Gene: ENSMUSG00000027339
Domain | Start | End | E-Value | Type |
Blast:RA
|
174 |
202 |
2e-12 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155829
|
Meta Mutation Damage Score |
0.9585 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (31/31) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit bone defects and hematopoeitic abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
Cdh3 |
A |
G |
8: 107,237,940 (GRCm39) |
T45A |
probably benign |
Het |
Cdyl2 |
A |
G |
8: 117,350,537 (GRCm39) |
V198A |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cyp7a1 |
A |
T |
4: 6,268,396 (GRCm39) |
I443K |
probably benign |
Het |
Dazap1 |
T |
A |
10: 80,120,067 (GRCm39) |
M234K |
possibly damaging |
Het |
Dnmt1 |
A |
T |
9: 20,835,442 (GRCm39) |
|
probably benign |
Het |
Dusp8 |
A |
G |
7: 141,643,800 (GRCm39) |
Y38H |
probably damaging |
Het |
Ewsr1 |
A |
G |
11: 5,041,857 (GRCm39) |
|
probably null |
Het |
Fem1b |
T |
C |
9: 62,704,285 (GRCm39) |
H325R |
probably damaging |
Het |
Flrt3 |
C |
A |
2: 140,503,311 (GRCm39) |
V106F |
possibly damaging |
Het |
Foxp2 |
T |
A |
6: 15,409,938 (GRCm39) |
S513T |
possibly damaging |
Het |
Gm5600 |
G |
T |
7: 113,307,041 (GRCm39) |
|
noncoding transcript |
Het |
Haspin |
A |
G |
11: 73,026,911 (GRCm39) |
I726T |
probably benign |
Het |
Lama4 |
T |
A |
10: 38,918,563 (GRCm39) |
|
probably null |
Het |
Lrrc7 |
A |
T |
3: 157,876,298 (GRCm39) |
H597Q |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Plcb4 |
C |
T |
2: 135,781,893 (GRCm39) |
T238M |
probably damaging |
Het |
Plekhd1 |
A |
G |
12: 80,768,873 (GRCm39) |
|
probably null |
Het |
Prph |
C |
G |
15: 98,953,163 (GRCm39) |
|
probably benign |
Het |
Saal1 |
A |
G |
7: 46,342,235 (GRCm39) |
F403L |
probably benign |
Het |
Serpina3a |
C |
T |
12: 104,082,758 (GRCm39) |
T177I |
probably benign |
Het |
Slc23a2 |
C |
T |
2: 131,936,115 (GRCm39) |
E52K |
possibly damaging |
Het |
Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
Syne3 |
T |
A |
12: 104,935,493 (GRCm39) |
E95V |
probably damaging |
Het |
Vmn1r58 |
G |
T |
7: 5,413,939 (GRCm39) |
T97N |
probably damaging |
Het |
Vmn2r61 |
T |
G |
7: 41,916,287 (GRCm39) |
L300W |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,720,421 (GRCm39) |
E388G |
possibly damaging |
Het |
|
Other mutations in Rassf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01991:Rassf2
|
APN |
2 |
131,842,352 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02142:Rassf2
|
APN |
2 |
131,838,353 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02694:Rassf2
|
APN |
2 |
131,851,641 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02727:Rassf2
|
APN |
2 |
131,846,307 (GRCm39) |
missense |
probably benign |
0.11 |
R0722:Rassf2
|
UTSW |
2 |
131,844,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Rassf2
|
UTSW |
2 |
131,840,163 (GRCm39) |
critical splice donor site |
probably null |
|
R3808:Rassf2
|
UTSW |
2 |
131,840,180 (GRCm39) |
splice site |
probably null |
|
R3809:Rassf2
|
UTSW |
2 |
131,840,180 (GRCm39) |
splice site |
probably null |
|
R4077:Rassf2
|
UTSW |
2 |
131,854,522 (GRCm39) |
missense |
probably benign |
|
R4085:Rassf2
|
UTSW |
2 |
131,846,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R4285:Rassf2
|
UTSW |
2 |
131,847,314 (GRCm39) |
missense |
probably benign |
0.17 |
R4721:Rassf2
|
UTSW |
2 |
131,846,358 (GRCm39) |
missense |
probably benign |
|
R4762:Rassf2
|
UTSW |
2 |
131,844,783 (GRCm39) |
unclassified |
probably benign |
|
R5012:Rassf2
|
UTSW |
2 |
131,851,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R6545:Rassf2
|
UTSW |
2 |
131,840,237 (GRCm39) |
missense |
probably damaging |
0.98 |
R6788:Rassf2
|
UTSW |
2 |
131,844,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R7232:Rassf2
|
UTSW |
2 |
131,838,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R7711:Rassf2
|
UTSW |
2 |
131,847,297 (GRCm39) |
missense |
probably benign |
0.04 |
R9332:Rassf2
|
UTSW |
2 |
131,846,326 (GRCm39) |
missense |
probably damaging |
0.99 |
X0063:Rassf2
|
UTSW |
2 |
131,840,174 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Rassf2
|
UTSW |
2 |
131,846,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCATCCGAAGTCCTCAGAG -3'
(R):5'- CCTGGGGAGAAAGGTTTATGGC -3'
Sequencing Primer
(F):5'- CCGGAGGCTCAAGAAAGTTATTC -3'
(R):5'- AAAGGTTTATGGCTGAGCTCAG -3'
|
Posted On |
2014-10-30 |