Incidental Mutation 'R2295:Olfml2b'
| ID |
245124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfml2b
|
| Ensembl Gene |
ENSMUSG00000038463 |
| Gene Name |
olfactomedin-like 2B |
| Synonyms |
4832415H08Rik, 1110018N05Rik, photomedin-2 |
| MMRRC Submission |
040294-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2295 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
170472101-170510356 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 170490107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046792]
|
| AlphaFold |
Q3V1G4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046792
|
| SMART Domains |
Protein: ENSMUSP00000047291
Gene: ENSMUSG00000038463
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (41/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,039,729 (GRCm39) |
Y428C |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,199,570 (GRCm39) |
V136I |
probably benign |
Het |
| Aldh5a1 |
A |
G |
13: 25,110,082 (GRCm39) |
F151S |
probably damaging |
Het |
| Alox12 |
T |
C |
11: 70,133,291 (GRCm39) |
I638V |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,115,745 (GRCm39) |
D110E |
probably damaging |
Het |
| Capn15 |
G |
A |
17: 26,183,555 (GRCm39) |
R309* |
probably null |
Het |
| Crmp1 |
A |
G |
5: 37,422,606 (GRCm39) |
I138V |
probably benign |
Het |
| Dennd3 |
G |
A |
15: 73,395,404 (GRCm39) |
|
probably null |
Het |
| Dsp |
T |
C |
13: 38,381,022 (GRCm39) |
V1990A |
probably benign |
Het |
| Dtna |
T |
G |
18: 23,764,469 (GRCm39) |
L546R |
probably damaging |
Het |
| Elac1 |
T |
C |
18: 73,872,300 (GRCm39) |
I232V |
probably benign |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,345 (GRCm39) |
E243K |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,322,120 (GRCm39) |
S222P |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,375,857 (GRCm39) |
T11A |
probably benign |
Het |
| Il18 |
A |
G |
9: 50,490,635 (GRCm39) |
E90G |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,520 (GRCm39) |
T720A |
probably benign |
Het |
| Kcnt1 |
G |
T |
2: 25,790,933 (GRCm39) |
A11S |
probably damaging |
Het |
| Luzp2 |
T |
C |
7: 54,821,938 (GRCm39) |
|
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,529,846 (GRCm39) |
N32D |
possibly damaging |
Het |
| Nfic |
T |
C |
10: 81,256,365 (GRCm39) |
K122E |
probably damaging |
Het |
| Ntm |
A |
G |
9: 29,020,817 (GRCm39) |
V134A |
possibly damaging |
Het |
| Or56a4 |
A |
G |
7: 104,806,532 (GRCm39) |
V119A |
probably benign |
Het |
| Or9q2 |
A |
T |
19: 13,772,108 (GRCm39) |
I289N |
probably damaging |
Het |
| Osbpl9 |
A |
G |
4: 109,059,331 (GRCm39) |
Y28H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,835 (GRCm39) |
Y1025N |
probably damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,141,020 (GRCm39) |
A43T |
probably benign |
Het |
| Polb |
A |
G |
8: 23,143,335 (GRCm39) |
L19P |
probably damaging |
Het |
| Ppp1r14c |
T |
C |
10: 3,316,734 (GRCm39) |
F23S |
possibly damaging |
Het |
| Prkab1 |
A |
T |
5: 116,159,715 (GRCm39) |
|
probably null |
Het |
| Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,053,473 (GRCm39) |
S143P |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,584 (GRCm39) |
N1348D |
unknown |
Het |
| Srgap1 |
T |
C |
10: 121,630,665 (GRCm39) |
K751R |
probably benign |
Het |
| Sult2a1 |
A |
G |
7: 13,569,884 (GRCm39) |
|
probably null |
Het |
| Svopl |
C |
A |
6: 37,996,668 (GRCm39) |
A270S |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,486 (GRCm39) |
|
probably null |
Het |
| Toporsl |
A |
G |
4: 52,610,176 (GRCm39) |
D23G |
probably damaging |
Het |
| Trim30d |
A |
C |
7: 104,137,149 (GRCm39) |
C18W |
probably damaging |
Het |
| Trmt11 |
G |
C |
10: 30,423,744 (GRCm39) |
P387R |
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 |
|
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 |
|
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'- CTCCTCAGGAAGTCTCTAAGAACC -3'
(R):5'- AGGCTCAGAAGACCCAGATTTG -3'
Sequencing Primer
(F):5'- GGAAGTCTCTAAGAACCTCACC -3'
(R):5'- GCTCAGAAGACCCAGATTTGAGTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation