Incidental Mutation 'IGL02627:Osr2'
| ID |
301149 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osr2
|
| Ensembl Gene |
ENSMUSG00000022330 |
| Gene Name |
odd-skipped related 2 |
| Synonyms |
Osr2B, Osr2A, 5430409I15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02627
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
35296244-35303451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35300600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 52
(N52S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022952]
[ENSMUST00000228152]
|
| AlphaFold |
Q91ZD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022952
AA Change: N52S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022952
Gene: ENSMUSG00000022330
AA Change: N52S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
136 |
153 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
172 |
194 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
4.4e-2 |
SMART |
|
low complexity region
|
253 |
263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227655
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228152
AA Change: N52S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228684
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality, cleft of the secondary palate, and thickened tympanic rings. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
A |
2: 30,685,777 (GRCm39) |
K353M |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,157,302 (GRCm39) |
Y100H |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap418 |
G |
A |
4: 10,898,039 (GRCm39) |
C207Y |
probably damaging |
Het |
| Ckap5 |
A |
T |
2: 91,406,366 (GRCm39) |
N752I |
probably damaging |
Het |
| Dgkz |
T |
A |
2: 91,769,055 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
A |
11: 16,819,346 (GRCm39) |
V292E |
probably damaging |
Het |
| Gnb3 |
T |
C |
6: 124,811,678 (GRCm39) |
T329A |
probably damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,675,810 (GRCm39) |
T40S |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,724,120 (GRCm39) |
|
probably benign |
Het |
| Mbip |
T |
C |
12: 56,382,590 (GRCm39) |
Q292R |
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,874,442 (GRCm39) |
Y625H |
probably damaging |
Het |
| Ms4a4d |
A |
T |
19: 11,525,987 (GRCm39) |
E40D |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,562,156 (GRCm39) |
E1003G |
possibly damaging |
Het |
| Ncf2 |
G |
A |
1: 152,686,759 (GRCm39) |
|
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,636,714 (GRCm39) |
V529A |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,606,593 (GRCm39) |
D778G |
possibly damaging |
Het |
| Rsl1d1 |
G |
T |
16: 11,012,415 (GRCm39) |
A337E |
possibly damaging |
Het |
| Sall3 |
A |
T |
18: 81,015,576 (GRCm39) |
L784Q |
possibly damaging |
Het |
| Spen |
A |
G |
4: 141,200,326 (GRCm39) |
I2744T |
probably damaging |
Het |
| Tfip11 |
A |
C |
5: 112,477,679 (GRCm39) |
S145R |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,518,295 (GRCm39) |
D559G |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,328,229 (GRCm39) |
S325T |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,771,472 (GRCm39) |
V472D |
probably damaging |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,746 (GRCm39) |
T29S |
probably benign |
Het |
| Vps29 |
T |
C |
5: 122,500,908 (GRCm39) |
S158P |
probably benign |
Het |
| Wdr82 |
T |
C |
9: 106,053,886 (GRCm39) |
V79A |
possibly damaging |
Het |
| Wfdc16 |
T |
A |
2: 164,480,383 (GRCm39) |
E37D |
possibly damaging |
Het |
|
| Other mutations in Osr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02008:Osr2
|
APN |
15 |
35,302,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03371:Osr2
|
APN |
15 |
35,301,000 (GRCm39) |
nonsense |
probably null |
|
|
R1517:Osr2
|
UTSW |
15 |
35,300,813 (GRCm39) |
missense |
probably benign |
|
|
R1893:Osr2
|
UTSW |
15 |
35,300,608 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4408:Osr2
|
UTSW |
15 |
35,300,617 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7275:Osr2
|
UTSW |
15 |
35,301,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Osr2
|
UTSW |
15 |
35,302,063 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9087:Osr2
|
UTSW |
15 |
35,301,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Osr2
|
UTSW |
15 |
35,303,061 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation