Incidental Mutation 'R5673:Olfml2b'
| ID |
442702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfml2b
|
| Ensembl Gene |
ENSMUSG00000038463 |
| Gene Name |
olfactomedin-like 2B |
| Synonyms |
4832415H08Rik, 1110018N05Rik, photomedin-2 |
| MMRRC Submission |
043175-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5673 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
170472101-170510356 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 170509698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 682
(V682E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046792]
|
| AlphaFold |
Q3V1G4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046792
AA Change: V682E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047291
Gene: ENSMUSG00000038463
AA Change: V682E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
coiled coil region
|
41 |
68 |
N/A |
INTRINSIC |
|
coiled coil region
|
179 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
238 |
N/A |
INTRINSIC |
|
Blast:OLF
|
254 |
306 |
1e-6 |
BLAST |
|
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
382 |
N/A |
INTRINSIC |
|
OLF
|
492 |
746 |
4.76e-61 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an olfactomedin domain-containing protein. Most olfactomedin domain-containing proteins are secreted glycoproteins. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,877,886 (GRCm39) |
M94K |
probably damaging |
Het |
| Adam2 |
A |
G |
14: 66,306,681 (GRCm39) |
Y103H |
probably benign |
Het |
| Adamts17 |
T |
C |
7: 66,691,555 (GRCm39) |
C580R |
probably damaging |
Het |
| Aqp5 |
G |
A |
15: 99,492,046 (GRCm39) |
V98I |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,331,581 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,449,787 (GRCm39) |
N566S |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,143,636 (GRCm39) |
D2992N |
probably damaging |
Het |
| Cfap69 |
T |
C |
5: 5,646,027 (GRCm39) |
T140A |
possibly damaging |
Het |
| Cfi |
A |
G |
3: 129,648,658 (GRCm39) |
I181V |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,962,499 (GRCm39) |
L133P |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,539,622 (GRCm39) |
L1297F |
unknown |
Het |
| Crot |
T |
C |
5: 9,038,131 (GRCm39) |
N132S |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,550,812 (GRCm39) |
Q3169L |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 31,022,235 (GRCm39) |
M3945K |
probably damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,188,415 (GRCm39) |
K216E |
probably damaging |
Het |
| Far2 |
A |
T |
6: 148,047,602 (GRCm39) |
S94C |
possibly damaging |
Het |
| Gm14226 |
T |
A |
2: 154,866,842 (GRCm39) |
S266R |
possibly damaging |
Het |
| Gpr137 |
A |
G |
19: 6,916,466 (GRCm39) |
F276L |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,093,006 (GRCm39) |
Y148C |
probably damaging |
Het |
| Lrfn2 |
T |
C |
17: 49,403,625 (GRCm39) |
S583P |
probably benign |
Het |
| Lrrc40 |
A |
G |
3: 157,754,035 (GRCm39) |
|
probably null |
Het |
| Mast4 |
A |
T |
13: 102,930,580 (GRCm39) |
I224N |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,962,812 (GRCm39) |
K161E |
probably damaging |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Mrgprb2 |
A |
T |
7: 48,202,121 (GRCm39) |
F201L |
probably benign |
Het |
| Mroh1 |
T |
A |
15: 76,314,381 (GRCm39) |
L686Q |
probably damaging |
Het |
| Mybbp1a |
G |
A |
11: 72,335,751 (GRCm39) |
V421I |
probably benign |
Het |
| Nadk |
G |
A |
4: 155,669,642 (GRCm39) |
V143I |
possibly damaging |
Het |
| Nell1 |
A |
T |
7: 49,878,594 (GRCm39) |
T272S |
probably damaging |
Het |
| Npnt |
A |
T |
3: 132,623,258 (GRCm39) |
C94S |
probably damaging |
Het |
| Pacs2 |
G |
A |
12: 113,032,618 (GRCm39) |
V655M |
probably damaging |
Het |
| Pcdha1 |
A |
C |
18: 37,063,726 (GRCm39) |
N130T |
probably damaging |
Het |
| Resf1 |
C |
T |
6: 149,229,491 (GRCm39) |
Q846* |
probably null |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,257,105 (GRCm39) |
S566P |
probably damaging |
Het |
| Sirpa |
T |
G |
2: 129,472,022 (GRCm39) |
V483G |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 144,062,206 (GRCm39) |
R149G |
probably damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,692,444 (GRCm39) |
S1007P |
probably damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,011,905 (GRCm39) |
F317L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,547,389 (GRCm39) |
K32219R |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,630 (GRCm39) |
T11S |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,596,615 (GRCm39) |
L147I |
probably benign |
Het |
| Vmn2r77 |
C |
T |
7: 86,461,214 (GRCm39) |
H847Y |
probably benign |
Het |
|
| Other mutations in Olfml2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Olfml2b
|
APN |
1 |
170,496,635 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01871:Olfml2b
|
APN |
1 |
170,489,924 (GRCm39) |
splice site |
probably benign |
|
|
IGL02475:Olfml2b
|
APN |
1 |
170,509,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02657:Olfml2b
|
APN |
1 |
170,508,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03375:Olfml2b
|
APN |
1 |
170,477,401 (GRCm39) |
missense |
probably benign |
0.35 |
|
PIT4280001:Olfml2b
|
UTSW |
1 |
170,475,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Olfml2b
|
UTSW |
1 |
170,496,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0194:Olfml2b
|
UTSW |
1 |
170,508,684 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0834:Olfml2b
|
UTSW |
1 |
170,475,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1218:Olfml2b
|
UTSW |
1 |
170,477,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Olfml2b
|
UTSW |
1 |
170,508,731 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1420:Olfml2b
|
UTSW |
1 |
170,496,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1699:Olfml2b
|
UTSW |
1 |
170,472,642 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1730:Olfml2b
|
UTSW |
1 |
170,509,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1755:Olfml2b
|
UTSW |
1 |
170,509,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Olfml2b
|
UTSW |
1 |
170,496,812 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2295:Olfml2b
|
UTSW |
1 |
170,490,107 (GRCm39) |
splice site |
probably benign |
|
|
R2394:Olfml2b
|
UTSW |
1 |
170,477,319 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3784:Olfml2b
|
UTSW |
1 |
170,509,551 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4523:Olfml2b
|
UTSW |
1 |
170,496,791 (GRCm39) |
missense |
probably benign |
|
|
R4611:Olfml2b
|
UTSW |
1 |
170,472,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4900:Olfml2b
|
UTSW |
1 |
170,489,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5201:Olfml2b
|
UTSW |
1 |
170,496,433 (GRCm39) |
missense |
probably benign |
|
|
R5245:Olfml2b
|
UTSW |
1 |
170,496,443 (GRCm39) |
missense |
probably benign |
|
|
R5268:Olfml2b
|
UTSW |
1 |
170,477,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5283:Olfml2b
|
UTSW |
1 |
170,508,758 (GRCm39) |
nonsense |
probably null |
|
|
R5348:Olfml2b
|
UTSW |
1 |
170,489,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5408:Olfml2b
|
UTSW |
1 |
170,472,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5758:Olfml2b
|
UTSW |
1 |
170,496,833 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5893:Olfml2b
|
UTSW |
1 |
170,490,042 (GRCm39) |
missense |
probably benign |
|
|
R6290:Olfml2b
|
UTSW |
1 |
170,477,359 (GRCm39) |
nonsense |
probably null |
|
|
R6380:Olfml2b
|
UTSW |
1 |
170,496,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6778:Olfml2b
|
UTSW |
1 |
170,472,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Olfml2b
|
UTSW |
1 |
170,494,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7538:Olfml2b
|
UTSW |
1 |
170,477,402 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8354:Olfml2b
|
UTSW |
1 |
170,509,793 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8377:Olfml2b
|
UTSW |
1 |
170,496,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8792:Olfml2b
|
UTSW |
1 |
170,508,669 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGGATGAGAATGGCCTG -3'
(R):5'- CAGGGTCAAGTGTGTCAGTAGG -3'
Sequencing Primer
(F):5'- GCCTGTGGCTTATCTACCCAG -3'
(R):5'- TCAAGTGTGTCAGTAGGCAAAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation