Incidental Mutation 'R5012:Rassf2'
| ID |
390561 |
| 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 |
042603-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R5012 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
131834770-131872336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 131851610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 44
(R44L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028814]
[ENSMUST00000103182]
[ENSMUST00000139047]
[ENSMUST00000140791]
|
| AlphaFold |
Q8BMS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028814
AA Change: R44L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028814
Gene: ENSMUSG00000027339
AA Change: R44L
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
174 |
265 |
5.33e-18 |
SMART |
|
coiled coil region
|
292 |
312 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103182
AA Change: R44L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099471
Gene: ENSMUSG00000027339
AA Change: R44L
| 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 damaging
Transcript: ENSMUST00000139047
AA Change: R44L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120194
Gene: ENSMUSG00000027339
AA Change: R44L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RA
|
174 |
202 |
2e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155829
|
| Meta Mutation Damage Score |
0.4417 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.9%
|
| Validation Efficiency |
98% (45/46) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,767,217 (GRCm39) |
T268K |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Acsl1 |
A |
G |
8: 46,974,468 (GRCm39) |
S314G |
probably benign |
Het |
| Aftph |
G |
A |
11: 20,648,264 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
T |
G |
9: 89,611,709 (GRCm39) |
I211L |
probably benign |
Het |
| Anks1b |
A |
G |
10: 90,194,999 (GRCm39) |
T560A |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,208,403 (GRCm39) |
S1247R |
possibly damaging |
Het |
| Elf1 |
T |
A |
14: 79,808,174 (GRCm39) |
Y172N |
probably damaging |
Het |
| Emx1 |
C |
T |
6: 85,180,955 (GRCm39) |
P224L |
probably benign |
Het |
| Fastkd2 |
A |
T |
1: 63,789,055 (GRCm39) |
|
probably benign |
Het |
| Fbxw27 |
C |
A |
9: 109,602,271 (GRCm39) |
C234F |
probably benign |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Igkv6-23 |
C |
A |
6: 70,237,529 (GRCm39) |
A71S |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,226,143 (GRCm39) |
L2510P |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,898,802 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,504,710 (GRCm39) |
G122* |
probably null |
Het |
| Lamtor2 |
C |
T |
3: 88,460,163 (GRCm39) |
R3H |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,670,618 (GRCm39) |
T321S |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,484,107 (GRCm39) |
|
probably null |
Het |
| Mcm7 |
A |
T |
5: 138,167,609 (GRCm39) |
|
probably null |
Het |
| Mitd1 |
A |
T |
1: 37,924,374 (GRCm39) |
C59S |
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,216,570 (GRCm39) |
L2636P |
possibly damaging |
Het |
| Paip1 |
A |
G |
13: 119,584,338 (GRCm39) |
M233V |
probably benign |
Het |
| Pcdhb11 |
C |
A |
18: 37,556,029 (GRCm39) |
T453N |
possibly damaging |
Het |
| Plcb1 |
A |
G |
2: 135,175,320 (GRCm39) |
N545S |
probably null |
Het |
| Prl8a9 |
A |
T |
13: 27,746,594 (GRCm39) |
|
probably null |
Het |
| Psmc2 |
A |
G |
5: 22,007,563 (GRCm39) |
T308A |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,609,944 (GRCm39) |
M968K |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,475,230 (GRCm39) |
S146T |
possibly damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,137,127 (GRCm39) |
I260T |
probably benign |
Het |
| Steap2 |
G |
C |
5: 5,727,784 (GRCm39) |
L184V |
possibly damaging |
Het |
| Ttll5 |
G |
A |
12: 85,973,618 (GRCm39) |
E776K |
possibly damaging |
Het |
| Vipr1 |
A |
T |
9: 121,487,111 (GRCm39) |
|
probably null |
Het |
| Yars2 |
T |
C |
16: 16,121,448 (GRCm39) |
S201P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,864 (GRCm39) |
I194K |
probably benign |
Het |
| Zfp988 |
A |
G |
4: 147,416,060 (GRCm39) |
I165V |
probably benign |
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 |
|
R2326:Rassf2
|
UTSW |
2 |
131,842,352 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
|
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'- CAGAACACCCATCCTTTCTGG -3'
(R):5'- CAGAACTCTGCATGCATGTG -3'
Sequencing Primer
(F):5'- CCTTTCTGGATCAAAACTGGAAC -3'
(R):5'- GGGTATTCATGTGTGCACAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation