Incidental Mutation 'R1390:Rbpms2'
| ID |
162588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbpms2
|
| Ensembl Gene |
ENSMUSG00000032387 |
| Gene Name |
RNA binding protein with multiple splicing 2 |
| Synonyms |
2400008B06Rik |
| MMRRC Submission |
039452-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1390 (G1)
|
| Quality Score |
199 |
|
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: 98.1%
- 10x: 95.8%
- 20x: 90.8%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
T |
A |
13: 68,805,512 (GRCm39) |
I819F |
possibly damaging |
Het |
| Carm1 |
T |
A |
9: 21,490,789 (GRCm39) |
M219K |
probably damaging |
Het |
| Casd1 |
T |
C |
6: 4,641,859 (GRCm39) |
I712T |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,326,917 (GRCm39) |
V402A |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,417,402 (GRCm39) |
S2036P |
probably damaging |
Het |
| Galnt3 |
T |
C |
2: 65,921,567 (GRCm39) |
Y488C |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,239,461 (GRCm39) |
I288K |
probably benign |
Het |
| Mcmbp |
A |
C |
7: 128,325,865 (GRCm39) |
M71R |
probably damaging |
Het |
| Nid1 |
T |
G |
13: 13,650,831 (GRCm39) |
L456R |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,984,274 (GRCm39) |
D1752G |
probably damaging |
Het |
| Or4f47 |
A |
G |
2: 111,972,952 (GRCm39) |
I221V |
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,285,407 (GRCm39) |
D647V |
probably damaging |
Het |
| Shank1 |
G |
T |
7: 44,006,462 (GRCm39) |
G2060W |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,512,881 (GRCm39) |
S884P |
unknown |
Het |
| Slit2 |
G |
A |
5: 48,374,832 (GRCm39) |
S370N |
probably benign |
Het |
| Sorcs3 |
G |
A |
19: 48,682,440 (GRCm39) |
|
probably null |
Het |
| Strip2 |
G |
T |
6: 29,929,828 (GRCm39) |
R305L |
probably damaging |
Het |
| Trim30d |
T |
C |
7: 104,132,610 (GRCm39) |
R226G |
probably benign |
Het |
| Vmn1r173 |
T |
G |
7: 23,402,323 (GRCm39) |
V186G |
possibly damaging |
Het |
| Zfp719 |
A |
G |
7: 43,239,867 (GRCm39) |
D485G |
possibly 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 |
|
|
R1377: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'- GGTATTCATCAAGCCAAGCAAGTTCAC -3'
(R):5'- TGAGAAAAGACAACAATTCTGTTGCTGC -3'
Sequencing Primer
(F):5'- CCTGGTCTTGAGGAAGGGTAAC -3'
(R):5'- CACTCAAAATGGCTTACCTGAGC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation