Incidental Mutation 'R1377:Rbpms2'
ID |
162912 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbpms2
|
Ensembl Gene |
ENSMUSG00000032387 |
Gene Name |
RNA binding protein with multiple splicing 2 |
Synonyms |
2400008B06Rik |
MMRRC Submission |
039441-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1377 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
65536930-65567810 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
ACTGCTGCTGCTGCTGC to ACTGCTGCTGCTGCTGCTGC
at 65558948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055844]
[ENSMUST00000169003]
[ENSMUST00000216342]
[ENSMUST00000216382]
|
AlphaFold |
Q8VC52 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055844
|
SMART Domains |
Protein: ENSMUSP00000057600 Gene: ENSMUSG00000032387
Domain | Start | End | E-Value | Type |
RRM
|
26 |
98 |
7.84e-8 |
SMART |
low complexity region
|
172 |
182 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169003
|
SMART Domains |
Protein: ENSMUSP00000131076 Gene: ENSMUSG00000032387
Domain | Start | End | E-Value | Type |
RRM
|
26 |
98 |
7.84e-8 |
SMART |
low complexity region
|
135 |
144 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213927
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216342
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216382
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RNA recognition motif (RRM)-containing protein family and is involved in the development and dedifferentiation of digestive smooth muscle cells. The encoded protein functions as a homodimer and indirectly inhibits the bone morphogenetic protein pathway. [provided by RefSeq, Aug 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
A |
G |
16: 30,934,869 (GRCm39) |
V363A |
probably damaging |
Het |
Arc |
G |
A |
15: 74,544,101 (GRCm39) |
H41Y |
possibly damaging |
Het |
Atp7b |
G |
A |
8: 22,501,801 (GRCm39) |
A854V |
probably benign |
Het |
Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
Dnah8 |
A |
T |
17: 31,059,596 (GRCm39) |
K4399* |
probably null |
Het |
Dscam |
A |
G |
16: 96,573,694 (GRCm39) |
V756A |
probably damaging |
Het |
Exoc3l4 |
A |
T |
12: 111,395,104 (GRCm39) |
E574V |
probably damaging |
Het |
Fbxo46 |
T |
A |
7: 18,870,350 (GRCm39) |
V323E |
probably damaging |
Het |
Gria1 |
C |
A |
11: 57,092,002 (GRCm39) |
N163K |
probably damaging |
Het |
Has2 |
T |
C |
15: 56,545,202 (GRCm39) |
I133M |
probably damaging |
Het |
Itgal |
T |
A |
7: 126,921,089 (GRCm39) |
L750Q |
probably damaging |
Het |
Ptprk |
G |
A |
10: 28,462,022 (GRCm39) |
R1195Q |
probably benign |
Het |
Rbm15 |
T |
C |
3: 107,238,074 (GRCm39) |
T775A |
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,218,716 (GRCm39) |
E207G |
probably damaging |
Het |
Slc38a6 |
T |
A |
12: 73,397,345 (GRCm39) |
I329N |
probably damaging |
Het |
Stoml3 |
G |
A |
3: 53,415,062 (GRCm39) |
A285T |
probably benign |
Het |
Trhr2 |
C |
T |
8: 123,087,327 (GRCm39) |
V38M |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,101,123 (GRCm39) |
L25P |
probably damaging |
Het |
Wdr33 |
T |
A |
18: 32,021,694 (GRCm39) |
M748K |
unknown |
Het |
Zfp454 |
T |
C |
11: 50,764,607 (GRCm39) |
Y164C |
probably damaging |
Het |
Zfp804a |
T |
C |
2: 82,088,841 (GRCm39) |
V890A |
probably benign |
Het |
Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
probably damaging |
Het |
|
Other mutations in Rbpms2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0018:Rbpms2
|
UTSW |
9 |
65,558,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R0018:Rbpms2
|
UTSW |
9 |
65,558,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R0567:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
R0568:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
R0570:Rbpms2
|
UTSW |
9 |
65,566,476 (GRCm39) |
nonsense |
probably null |
|
R0727:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
R1374:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
R1375:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
R1390:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
R1412:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
R1662:Rbpms2
|
UTSW |
9 |
65,558,324 (GRCm39) |
missense |
probably benign |
0.05 |
R1710:Rbpms2
|
UTSW |
9 |
65,566,494 (GRCm39) |
splice site |
probably benign |
|
R1714:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
R1714:Rbpms2
|
UTSW |
9 |
65,558,947 (GRCm39) |
unclassified |
probably benign |
|
R1715:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
R1838:Rbpms2
|
UTSW |
9 |
65,558,962 (GRCm39) |
unclassified |
probably benign |
|
R1838:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
R1839:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
R1882:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
R2088:Rbpms2
|
UTSW |
9 |
65,538,121 (GRCm39) |
missense |
probably damaging |
0.99 |
R2118:Rbpms2
|
UTSW |
9 |
65,558,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R2237:Rbpms2
|
UTSW |
9 |
65,558,893 (GRCm39) |
nonsense |
probably null |
|
R4633:Rbpms2
|
UTSW |
9 |
65,558,918 (GRCm39) |
missense |
probably benign |
0.02 |
R7249:Rbpms2
|
UTSW |
9 |
65,556,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R8277:Rbpms2
|
UTSW |
9 |
65,556,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R8445:Rbpms2
|
UTSW |
9 |
65,558,303 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8902:Rbpms2
|
UTSW |
9 |
65,558,351 (GRCm39) |
missense |
probably benign |
0.39 |
R9672:Rbpms2
|
UTSW |
9 |
65,538,118 (GRCm39) |
missense |
probably benign |
|
R9706:Rbpms2
|
UTSW |
9 |
65,558,285 (GRCm39) |
missense |
probably benign |
0.34 |
|
Predicted Primers |
PCR Primer
(F):5'- GTATTCATCAAGCCAAGCAAGTTCACG -3'
(R):5'- TGAGAAAAGACAACAATTCTGTTGCTGC -3'
Sequencing Primer
(F):5'- CCTGGTCTTGAGGAAGGGTAAC -3'
(R):5'- CACTCAAAATGGCTTACCTGAGC -3'
|
Posted On |
2014-03-17 |