Incidental Mutation 'R5245:Olfml2b'
ID |
401087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Olfml2b
|
Ensembl Gene |
ENSMUSG00000038463 |
Gene Name |
olfactomedin-like 2B |
Synonyms |
4832415H08Rik, 1110018N05Rik, photomedin-2 |
MMRRC Submission |
042816-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5245 (G1)
|
Quality Score |
196 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
170472101-170510356 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 170496443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 358
(V358A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046792]
|
AlphaFold |
Q3V1G4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046792
AA Change: V358A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000047291 Gene: ENSMUSG00000038463 AA Change: V358A
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 |
|
Meta Mutation Damage Score |
0.0586 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
100% (51/51) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17b |
T |
A |
19: 21,661,624 (GRCm39) |
Y270* |
probably null |
Het |
Akap9 |
A |
T |
5: 4,026,209 (GRCm39) |
Q59L |
probably damaging |
Het |
Aloxe3 |
A |
T |
11: 69,020,502 (GRCm39) |
Q182L |
probably benign |
Het |
Arhgef5 |
G |
T |
6: 43,242,614 (GRCm39) |
|
probably benign |
Het |
Bcas3 |
T |
A |
11: 85,449,912 (GRCm39) |
N663K |
probably damaging |
Het |
Cimap3 |
T |
C |
3: 105,921,770 (GRCm39) |
H51R |
possibly damaging |
Het |
Cntfr |
A |
T |
4: 41,670,879 (GRCm39) |
W95R |
possibly damaging |
Het |
Dcun1d4 |
A |
G |
5: 73,714,657 (GRCm39) |
T275A |
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,473,873 (GRCm39) |
R227G |
probably damaging |
Het |
Ets2 |
G |
A |
16: 95,513,304 (GRCm39) |
W160* |
probably null |
Het |
Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
G |
2: 82,823,505 (GRCm39) |
M6413V |
probably benign |
Het |
Gm14401 |
C |
T |
2: 176,778,471 (GRCm39) |
P186S |
probably damaging |
Het |
Hrc |
G |
A |
7: 44,984,855 (GRCm39) |
G2D |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,903,284 (GRCm39) |
V142A |
possibly damaging |
Het |
Lama3 |
G |
A |
18: 12,552,950 (GRCm39) |
C454Y |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,680,292 (GRCm39) |
T2068A |
probably damaging |
Het |
Mab21l2 |
T |
C |
3: 86,454,799 (GRCm39) |
E67G |
possibly damaging |
Het |
Map3k5 |
G |
A |
10: 20,016,437 (GRCm39) |
V1343I |
probably benign |
Het |
Mcm4 |
T |
A |
16: 15,448,289 (GRCm39) |
T423S |
probably benign |
Het |
Mmp16 |
A |
G |
4: 18,054,596 (GRCm39) |
|
probably benign |
Het |
Nat3 |
C |
T |
8: 68,000,832 (GRCm39) |
T237I |
probably benign |
Het |
Nol4 |
A |
T |
18: 22,828,179 (GRCm39) |
*484R |
probably null |
Het |
Nsmf |
A |
G |
2: 24,946,119 (GRCm39) |
E202G |
probably damaging |
Het |
Or2v2 |
T |
A |
11: 49,004,116 (GRCm39) |
I146F |
probably benign |
Het |
Or4b1d |
T |
A |
2: 89,968,606 (GRCm39) |
K292N |
probably damaging |
Het |
Osbpl1a |
T |
C |
18: 12,891,910 (GRCm39) |
E466G |
probably damaging |
Het |
Pim3 |
A |
G |
15: 88,747,404 (GRCm39) |
E90G |
possibly damaging |
Het |
Recql5 |
T |
C |
11: 115,784,385 (GRCm39) |
E905G |
probably damaging |
Het |
Rnf31 |
T |
G |
14: 55,839,163 (GRCm39) |
L925R |
probably damaging |
Het |
Secisbp2l |
A |
G |
2: 125,589,511 (GRCm39) |
V679A |
probably damaging |
Het |
Setdb2 |
T |
A |
14: 59,663,943 (GRCm39) |
E68V |
probably null |
Het |
Shtn1 |
T |
A |
19: 59,020,652 (GRCm39) |
N190I |
possibly damaging |
Het |
Slc25a25 |
G |
A |
2: 32,311,340 (GRCm39) |
Q14* |
probably null |
Het |
Snrnp27 |
A |
G |
6: 86,659,941 (GRCm39) |
S18P |
unknown |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Tbx5 |
T |
C |
5: 120,021,230 (GRCm39) |
V412A |
possibly damaging |
Het |
Tcea3 |
A |
G |
4: 135,991,813 (GRCm39) |
T166A |
probably benign |
Het |
Tdrp |
A |
T |
8: 14,024,479 (GRCm39) |
|
probably benign |
Het |
Tent5a |
G |
T |
9: 85,208,401 (GRCm39) |
Q160K |
possibly damaging |
Het |
Tmem132e |
T |
C |
11: 82,333,464 (GRCm39) |
V624A |
probably damaging |
Het |
Tnnt1 |
T |
C |
7: 4,513,066 (GRCm39) |
D72G |
probably damaging |
Het |
Trim80 |
C |
A |
11: 115,332,398 (GRCm39) |
H197N |
probably damaging |
Het |
Zfp322a |
A |
T |
13: 23,541,156 (GRCm39) |
C195* |
probably null |
Het |
Zfp335 |
A |
G |
2: 164,736,678 (GRCm39) |
S986P |
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 |
|
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'- CAGAGTGTTCCTTGTCCTGTGC -3'
(R):5'- ATTGCTGGAAGTGGCTGGAC -3'
Sequencing Primer
(F):5'- TGTGCCACAAATGAGCCTTG -3'
(R):5'- TGAGACTTGGGTAGAAGGCATCAC -3'
|
Posted On |
2016-07-06 |