Incidental Mutation 'R4408:Osr2'
| ID |
327772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osr2
|
| Ensembl Gene |
ENSMUSG00000022330 |
| Gene Name |
odd-skipped related 2 |
| Synonyms |
Osr2B, Osr2A, 5430409I15Rik |
| MMRRC Submission |
041690-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4408 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
35296244-35303451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35300617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 58
(Y58H)
|
| 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: Y58H
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022952
Gene: ENSMUSG00000022330
AA Change: Y58H
| 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: Y58H
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228684
|
| Meta Mutation Damage Score |
0.3826 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (35/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1h |
A |
G |
17: 25,599,601 (GRCm39) |
V1588A |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,130,536 (GRCm39) |
M287L |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,958,045 (GRCm39) |
Y240F |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Fndc5 |
A |
G |
4: 129,036,322 (GRCm39) |
|
probably null |
Het |
| Gm10799 |
C |
A |
2: 103,898,409 (GRCm39) |
A99S |
possibly damaging |
Het |
| Gm27013 |
A |
T |
6: 130,654,728 (GRCm39) |
S245T |
possibly damaging |
Het |
| Gm5592 |
A |
G |
7: 40,935,872 (GRCm39) |
T125A |
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,696,188 (GRCm39) |
|
probably benign |
Het |
| Gpbp1 |
A |
T |
13: 111,585,498 (GRCm39) |
N149K |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,158,368 (GRCm39) |
|
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,534,000 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,297,513 (GRCm39) |
K3149N |
probably benign |
Het |
| Lrrn3 |
A |
G |
12: 41,504,041 (GRCm39) |
V92A |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,625 (GRCm39) |
I216K |
possibly damaging |
Het |
| Or9s18 |
A |
G |
13: 65,300,514 (GRCm39) |
T159A |
probably benign |
Het |
| Pop5 |
C |
T |
5: 115,378,836 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,272,997 (GRCm39) |
C211R |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sgsm2 |
C |
A |
11: 74,742,592 (GRCm39) |
R957L |
probably damaging |
Het |
| Slc16a11 |
A |
G |
11: 70,106,560 (GRCm39) |
|
probably null |
Het |
| Spag17 |
T |
A |
3: 100,010,694 (GRCm39) |
Y2063N |
probably benign |
Het |
| Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
| Vmn1r23 |
T |
C |
6: 57,903,353 (GRCm39) |
I142V |
probably benign |
Het |
| Vmn1r235 |
A |
G |
17: 21,481,854 (GRCm39) |
K60E |
probably damaging |
Het |
| Vmn2r33 |
A |
C |
7: 7,554,229 (GRCm39) |
F775V |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,709,440 (GRCm39) |
P1796S |
probably damaging |
Het |
| Vwa3a |
G |
A |
7: 120,378,149 (GRCm39) |
V480I |
probably benign |
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 |
|
IGL02627:Osr2
|
APN |
15 |
35,300,600 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCGGAGCCTTCAGGAAGATG -3'
(R):5'- CCATTTTAGGAGGATCTTCTTGC -3'
Sequencing Primer
(F):5'- CCTTCAGGAAGATGGGGAGC -3'
(R):5'- CCAAGTTGGCAAAGTCAAAACG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation