Incidental Mutation 'R1412:Rbpms2'
| ID |
159639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbpms2
|
| Ensembl Gene |
ENSMUSG00000032387 |
| Gene Name |
RNA binding protein with multiple splicing 2 |
| Synonyms |
2400008B06Rik |
| MMRRC Submission |
039468-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1412 (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: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.5%
|
| Validation Efficiency |
98% (48/49) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,359 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
C |
T |
7: 119,944,546 (GRCm39) |
R394C |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,773,414 (GRCm39) |
Q1152R |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,243,569 (GRCm39) |
G6277E |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,619,298 (GRCm39) |
N41S |
probably benign |
Het |
| Akap7 |
A |
T |
10: 25,165,495 (GRCm39) |
|
probably null |
Het |
| Arl6ip1 |
A |
G |
7: 117,719,591 (GRCm39) |
I179T |
possibly damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,059,576 (GRCm39) |
D839N |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,047,190 (GRCm39) |
V52A |
probably benign |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,959 (GRCm39) |
Y257C |
probably damaging |
Het |
| Cdc123 |
A |
T |
2: 5,808,776 (GRCm39) |
D233E |
possibly damaging |
Het |
| Chdh |
G |
A |
14: 29,756,680 (GRCm39) |
E369K |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,695 (GRCm39) |
V491A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,805 (GRCm39) |
|
probably null |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,708,672 (GRCm39) |
H69L |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,235,196 (GRCm39) |
|
probably benign |
Het |
| Itga2b |
A |
T |
11: 102,347,831 (GRCm39) |
L890Q |
probably benign |
Het |
| Or52e8b |
A |
G |
7: 104,673,402 (GRCm39) |
F262L |
probably damaging |
Het |
| Or7d11 |
C |
G |
9: 19,966,711 (GRCm39) |
G16A |
possibly damaging |
Het |
| Parp10 |
A |
G |
15: 76,127,284 (GRCm39) |
L51P |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,883,301 (GRCm39) |
T108A |
probably damaging |
Het |
| Pdlim2 |
A |
T |
14: 70,411,773 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,239,804 (GRCm39) |
|
probably null |
Het |
| Raly |
A |
G |
2: 154,699,315 (GRCm39) |
T40A |
possibly damaging |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Smim22 |
G |
C |
16: 4,825,649 (GRCm39) |
E11D |
possibly damaging |
Het |
| Socs2 |
T |
C |
10: 95,250,780 (GRCm39) |
S18G |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,228,151 (GRCm39) |
E720G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,768 (GRCm39) |
I102M |
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,761 (GRCm39) |
V229A |
possibly damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,512 (GRCm39) |
I142N |
probably benign |
Het |
| Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,379,377 (GRCm39) |
T494I |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,641,199 (GRCm39) |
D1166G |
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 |
|
|
R1390: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 |
2014-03-14 |
Incidental Mutation