Incidental Mutation 'R8277:Rbpms2'
| ID |
638033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbpms2
|
| Ensembl Gene |
ENSMUSG00000032387 |
| Gene Name |
RNA binding protein with multiple splicing 2 |
| Synonyms |
2400008B06Rik |
| MMRRC Submission |
067700-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65536930-65567810 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65556695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 45
(F45Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055844]
[ENSMUST00000169003]
|
| AlphaFold |
Q8VC52 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055844
AA Change: F45Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057600
Gene: ENSMUSG00000032387
AA Change: F45Y
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
26 |
98 |
7.84e-8 |
SMART |
|
low complexity region
|
172 |
182 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169003
AA Change: F45Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131076
Gene: ENSMUSG00000032387
AA Change: F45Y
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
26 |
98 |
7.84e-8 |
SMART |
|
low complexity region
|
135 |
144 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6461 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
A |
19: 57,204,351 (GRCm39) |
L13F |
probably benign |
Het |
| Apoe |
C |
T |
7: 19,432,303 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,771,335 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
C |
1: 139,382,748 (GRCm39) |
S27P |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,050,646 (GRCm39) |
D90Y |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,747,030 (GRCm39) |
D327E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,029,347 (GRCm39) |
W1001R |
probably damaging |
Het |
| Chrm2 |
G |
A |
6: 36,500,211 (GRCm39) |
V23M |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,516,410 (GRCm39) |
G175R |
probably null |
Het |
| Ddx52 |
T |
C |
11: 83,845,940 (GRCm39) |
S422P |
probably damaging |
Het |
| Dync2i2 |
A |
G |
2: 29,923,886 (GRCm39) |
V213A |
probably benign |
Het |
| Entr1 |
G |
A |
2: 26,274,778 (GRCm39) |
A373V |
probably damaging |
Het |
| Gucy2d |
T |
A |
7: 98,092,682 (GRCm39) |
W20R |
probably benign |
Het |
| Hao2 |
A |
G |
3: 98,787,700 (GRCm39) |
I243T |
probably damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,259,189 (GRCm39) |
T1010P |
probably benign |
Het |
| Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
| Kat2b |
T |
A |
17: 53,948,281 (GRCm39) |
D350E |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,931 (GRCm39) |
S290G |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,954,220 (GRCm39) |
T834A |
probably benign |
Het |
| Mro |
A |
T |
18: 73,997,132 (GRCm39) |
|
probably benign |
Het |
| Mrps26 |
T |
A |
2: 130,406,347 (GRCm39) |
L160Q |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,183,735 (GRCm39) |
I788T |
probably benign |
Het |
| Nab2 |
G |
A |
10: 127,501,168 (GRCm39) |
|
probably benign |
Het |
| Nr2c2ap |
C |
T |
8: 70,585,131 (GRCm39) |
Q67* |
probably null |
Het |
| Or1p1b |
C |
T |
11: 74,130,842 (GRCm39) |
L151F |
probably benign |
Het |
| Pask |
C |
T |
1: 93,253,085 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 126,592,755 (GRCm39) |
S736R |
probably damaging |
Het |
| Per2 |
G |
T |
1: 91,348,274 (GRCm39) |
D1109E |
probably benign |
Het |
| Plxna1 |
G |
A |
6: 89,334,162 (GRCm39) |
H156Y |
probably damaging |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,976,905 (GRCm39) |
D276G |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,427,030 (GRCm39) |
I171K |
probably benign |
Het |
| Serpinb3a |
C |
A |
1: 106,973,970 (GRCm39) |
G314C |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,115,925 (GRCm39) |
V284D |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,255,722 (GRCm39) |
V934A |
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,402,431 (GRCm39) |
M1T |
probably null |
Het |
| Tgoln1 |
G |
A |
6: 72,593,838 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
G |
A |
3: 141,474,373 (GRCm39) |
|
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,833 (GRCm39) |
F81L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,440,970 (GRCm39) |
V296E |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,441,310 (GRCm39) |
D183N |
probably damaging |
Het |
| Zfp763 |
T |
C |
17: 33,252,294 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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'- CTCGAAGCTATGAAACTGTGTG -3'
(R):5'- CTTCACATGGCAAAGTCTGTTAAG -3'
Sequencing Primer
(F):5'- CGAAGCTATGAAACTGTGTGTGTAC -3'
(R):5'- TTTACAGATGAGTAAACAGAGGTTCG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation