Incidental Mutation 'R1374:Rbpms2'
| ID |
157448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbpms2
|
| Ensembl Gene |
ENSMUSG00000032387 |
| Gene Name |
RNA binding protein with multiple splicing 2 |
| Synonyms |
2400008B06Rik |
| MMRRC Submission |
039438-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1374 (G1)
|
| Quality Score |
217 |
|
Status
|
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: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 90.1%
|
| Validation Efficiency |
100% (38/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
A |
5: 142,456,213 (GRCm39) |
R344H |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,418,296 (GRCm39) |
|
probably benign |
Het |
| Cd47 |
T |
C |
16: 49,714,543 (GRCm39) |
L184P |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,269,440 (GRCm39) |
S1480P |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,348 (GRCm39) |
D377G |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,585,682 (GRCm39) |
G132D |
probably damaging |
Het |
| Dlgap2 |
T |
C |
8: 14,881,228 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,024,541 (GRCm39) |
D1132G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,712,485 (GRCm39) |
E511G |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,188,354 (GRCm39) |
D1495V |
probably damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,991,187 (GRCm39) |
L619Q |
probably damaging |
Het |
| Inpp4b |
T |
G |
8: 82,470,445 (GRCm39) |
|
probably null |
Het |
| Kifc1 |
T |
C |
17: 34,102,849 (GRCm39) |
R192G |
probably benign |
Het |
| Klhl30 |
C |
T |
1: 91,288,798 (GRCm39) |
T519M |
probably damaging |
Het |
| Klhl8 |
A |
C |
5: 104,011,049 (GRCm39) |
L516R |
probably damaging |
Het |
| Meikin |
T |
A |
11: 54,289,270 (GRCm39) |
|
probably benign |
Het |
| Mlph |
T |
A |
1: 90,869,425 (GRCm39) |
S476T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,133,401 (GRCm39) |
Y3379C |
probably damaging |
Het |
| Nfxl1 |
G |
A |
5: 72,681,488 (GRCm39) |
T681I |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,116,082 (GRCm39) |
S849P |
possibly damaging |
Het |
| Obox1 |
A |
T |
7: 15,289,426 (GRCm39) |
|
probably benign |
Het |
| Oplah |
G |
A |
15: 76,190,755 (GRCm39) |
R31C |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,143,073 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,285,195 (GRCm39) |
|
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,695,642 (GRCm39) |
S1275P |
unknown |
Het |
| Ptcd3 |
C |
A |
6: 71,885,637 (GRCm39) |
E30* |
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,321,715 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,995,275 (GRCm39) |
V791A |
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,367,172 (GRCm39) |
T1176M |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,857,095 (GRCm39) |
|
probably null |
Het |
| Sae1 |
A |
G |
7: 16,112,333 (GRCm39) |
I60T |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,281 (GRCm39) |
T2626A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,783,428 (GRCm39) |
Q3419R |
probably damaging |
Het |
| Vill |
C |
A |
9: 118,890,562 (GRCm39) |
N158K |
probably benign |
Het |
| Zbtb14 |
A |
G |
17: 69,694,575 (GRCm39) |
N91S |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,410,334 (GRCm39) |
L25P |
probably damaging |
Het |
| Zmym1 |
T |
A |
4: 126,943,404 (GRCm39) |
K230I |
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 |
|
|
R1375:Rbpms2
|
UTSW |
9 |
65,558,948 (GRCm39) |
unclassified |
probably benign |
|
|
R1377: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'- CAAGAAGACTGGGCTCCAAAGCTATC -3'
(R):5'- TGAGAAAAGACAACAATTCTGTTGCTGC -3'
Sequencing Primer
(F):5'- TAGGGTATTCATCAAGCCAAGC -3'
(R):5'- CACTCAAAATGGCTTACCTGAGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation