Incidental Mutation 'R5348:Olfml2b'
ID |
422717 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Olfml2b
|
Ensembl Gene |
ENSMUSG00000038463 |
Gene Name |
olfactomedin-like 2B |
Synonyms |
4832415H08Rik, 1110018N05Rik, photomedin-2 |
MMRRC Submission |
042927-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5348 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
170472101-170510356 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 170489995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 205
(E205G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046792]
|
AlphaFold |
Q3V1G4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046792
AA Change: E205G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000047291 Gene: ENSMUSG00000038463 AA Change: E205G
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: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,978,634 (GRCm39) |
C275S |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,102,295 (GRCm39) |
E1331G |
probably damaging |
Het |
Cdk12 |
T |
A |
11: 98,095,118 (GRCm39) |
S309T |
probably benign |
Het |
Cep295nl |
T |
C |
11: 118,224,425 (GRCm39) |
R140G |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,470,155 (GRCm39) |
V485A |
probably damaging |
Het |
Chn2 |
A |
G |
6: 54,277,203 (GRCm39) |
I279V |
probably damaging |
Het |
Cux2 |
A |
G |
5: 122,004,041 (GRCm39) |
S1032P |
probably damaging |
Het |
Ddx55 |
T |
A |
5: 124,692,628 (GRCm39) |
M44K |
probably damaging |
Het |
Dpyd |
T |
A |
3: 118,575,592 (GRCm39) |
H143Q |
probably benign |
Het |
Fbxo10 |
A |
G |
4: 45,058,934 (GRCm39) |
W268R |
probably damaging |
Het |
Gmfg |
A |
G |
7: 28,145,819 (GRCm39) |
D86G |
probably benign |
Het |
Gpd1 |
T |
C |
15: 99,620,021 (GRCm39) |
V273A |
possibly damaging |
Het |
Grhpr |
T |
C |
4: 44,985,393 (GRCm39) |
I158T |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,378,191 (GRCm39) |
F53L |
possibly damaging |
Het |
Kctd21 |
A |
G |
7: 96,997,177 (GRCm39) |
I217V |
probably benign |
Het |
Lrfn2 |
A |
G |
17: 49,403,718 (GRCm39) |
T614A |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,880,963 (GRCm39) |
D491V |
probably benign |
Het |
Myo7b |
T |
C |
18: 32,116,972 (GRCm39) |
E916G |
probably damaging |
Het |
Nf1 |
C |
T |
11: 79,455,725 (GRCm39) |
T550I |
probably damaging |
Het |
Nsd1 |
A |
G |
13: 55,460,147 (GRCm39) |
T2125A |
probably benign |
Het |
Or8k37 |
A |
T |
2: 86,469,150 (GRCm39) |
L301I |
probably benign |
Het |
Papolb |
T |
C |
5: 142,514,972 (GRCm39) |
T224A |
possibly damaging |
Het |
Pcnx2 |
T |
C |
8: 126,545,495 (GRCm39) |
E1172G |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,675,317 (GRCm39) |
L362S |
possibly damaging |
Het |
Ppp1r9b |
T |
A |
11: 94,887,438 (GRCm39) |
Y59* |
probably null |
Het |
Pramel12 |
T |
C |
4: 143,143,351 (GRCm39) |
L39P |
probably damaging |
Het |
Rapgef5 |
T |
A |
12: 117,652,346 (GRCm39) |
S76R |
probably benign |
Het |
Rnh1 |
A |
T |
7: 140,743,321 (GRCm39) |
V218D |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Slc4a7 |
G |
T |
14: 14,786,310 (GRCm38) |
V999L |
probably benign |
Het |
Slco4c1 |
A |
T |
1: 96,770,254 (GRCm39) |
I270N |
probably damaging |
Het |
Tdp1 |
A |
G |
12: 99,881,765 (GRCm39) |
Y498C |
probably damaging |
Het |
Tfip11 |
A |
G |
5: 112,483,534 (GRCm39) |
S650G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,608,638 (GRCm39) |
T17793A |
possibly damaging |
Het |
Ulk2 |
T |
C |
11: 61,674,439 (GRCm39) |
T856A |
probably benign |
Het |
Vps13d |
C |
T |
4: 144,792,459 (GRCm39) |
G3726E |
probably damaging |
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 |
|
R5408:Olfml2b
|
UTSW |
1 |
170,472,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R5673:Olfml2b
|
UTSW |
1 |
170,509,698 (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'- GCAAATCTCCATGCTCCAAG -3'
(R):5'- GACACAGAACTGAGACCCTG -3'
Sequencing Primer
(F):5'- TGCTCCAAGCCACCCTG -3'
(R):5'- AGAACTGAGACCCTGGCCTTG -3'
|
Posted On |
2016-08-04 |