Incidental Mutation 'R2987:Olfml2a'
| ID |
257811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfml2a
|
| Ensembl Gene |
ENSMUSG00000046618 |
| Gene Name |
olfactomedin-like 2A |
| Synonyms |
photomedin-1, 4932431K08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R2987 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
38821992-38850597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38837306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 150
(V150M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057279]
|
| AlphaFold |
Q8BHP7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057279
AA Change: V150M
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058761
Gene: ENSMUSG00000046618
AA Change: V150M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
39 |
66 |
2.55e-7 |
PROSPERO |
|
internal_repeat_1
|
78 |
105 |
2.55e-7 |
PROSPERO |
|
coiled coil region
|
168 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
407 |
N/A |
INTRINSIC |
|
OLF
|
426 |
681 |
8.73e-69 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,402,358 (GRCm39) |
I557V |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,364,661 (GRCm39) |
L983* |
probably null |
Het |
| Clcn1 |
A |
G |
6: 42,275,784 (GRCm39) |
Y302C |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,041,306 (GRCm39) |
C1308S |
probably damaging |
Het |
| Ebna1bp2 |
A |
G |
4: 118,478,133 (GRCm39) |
D2G |
probably damaging |
Het |
| Exoc6b |
T |
A |
6: 84,828,929 (GRCm39) |
K485I |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,914,585 (GRCm39) |
E611K |
probably benign |
Het |
| Gm5901 |
A |
G |
7: 105,026,507 (GRCm39) |
I92V |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,263,763 (GRCm39) |
L753F |
probably benign |
Het |
| L3mbtl4 |
T |
C |
17: 68,666,513 (GRCm39) |
S14P |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,025,925 (GRCm39) |
H305R |
probably damaging |
Het |
| Nid1 |
A |
T |
13: 13,674,258 (GRCm39) |
Y879F |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,749,869 (GRCm39) |
|
probably null |
Het |
| Or51a24 |
A |
G |
7: 103,734,077 (GRCm39) |
V70A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,174,823 (GRCm39) |
D3744E |
possibly damaging |
Het |
| Pla1a |
A |
T |
16: 38,228,104 (GRCm39) |
C258S |
probably damaging |
Het |
| Plk2 |
A |
T |
13: 110,534,243 (GRCm39) |
R274S |
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,875,925 (GRCm39) |
L30P |
possibly damaging |
Het |
| Synpo2 |
T |
C |
3: 122,910,622 (GRCm39) |
H341R |
probably damaging |
Het |
| Trbv12-1 |
G |
A |
6: 41,090,840 (GRCm39) |
E71K |
probably benign |
Het |
| Usp17lc |
T |
C |
7: 103,067,509 (GRCm39) |
V268A |
probably damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,700 (GRCm39) |
H21Q |
probably benign |
Het |
|
| Other mutations in Olfml2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01098:Olfml2a
|
APN |
2 |
38,837,226 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02367:Olfml2a
|
APN |
2 |
38,844,680 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03140:Olfml2a
|
APN |
2 |
38,837,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0559:Olfml2a
|
UTSW |
2 |
38,849,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Olfml2a
|
UTSW |
2 |
38,849,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1110:Olfml2a
|
UTSW |
2 |
38,849,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1187:Olfml2a
|
UTSW |
2 |
38,849,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1626:Olfml2a
|
UTSW |
2 |
38,841,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Olfml2a
|
UTSW |
2 |
38,850,231 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2127:Olfml2a
|
UTSW |
2 |
38,831,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4428:Olfml2a
|
UTSW |
2 |
38,831,755 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4564:Olfml2a
|
UTSW |
2 |
38,850,306 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4609:Olfml2a
|
UTSW |
2 |
38,847,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4667:Olfml2a
|
UTSW |
2 |
38,839,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4703:Olfml2a
|
UTSW |
2 |
38,841,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Olfml2a
|
UTSW |
2 |
38,850,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5588:Olfml2a
|
UTSW |
2 |
38,850,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5879:Olfml2a
|
UTSW |
2 |
38,850,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Olfml2a
|
UTSW |
2 |
38,841,155 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6484:Olfml2a
|
UTSW |
2 |
38,849,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Olfml2a
|
UTSW |
2 |
38,850,238 (GRCm39) |
nonsense |
probably null |
|
|
R7345:Olfml2a
|
UTSW |
2 |
38,850,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Olfml2a
|
UTSW |
2 |
38,850,273 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7971:Olfml2a
|
UTSW |
2 |
38,831,794 (GRCm39) |
splice site |
probably null |
|
|
R8073:Olfml2a
|
UTSW |
2 |
38,847,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8846:Olfml2a
|
UTSW |
2 |
38,850,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9108:Olfml2a
|
UTSW |
2 |
38,831,753 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9425:Olfml2a
|
UTSW |
2 |
38,847,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Olfml2a
|
UTSW |
2 |
38,850,296 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGTCCAAGTAGCCACTG -3'
(R):5'- GATGTTAGCAGCATCCCTCCTC -3'
Sequencing Primer
(F):5'- TCCAAGTAGCCACTGTGAGG -3'
(R):5'- CCTCCTCTCCCCGCAAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation