Incidental Mutation 'IGL02475:Olfml2b'
| ID |
294892 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Olfml2b
|
| Ensembl Gene |
ENSMUSG00000038463 |
| Gene Name |
olfactomedin-like 2B |
| Synonyms |
4832415H08Rik, 1110018N05Rik, photomedin-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
170472101-170510356 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 170509743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 697
(D697G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046792]
|
| AlphaFold |
Q3V1G4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046792
AA Change: D697G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047291
Gene: ENSMUSG00000038463
AA Change: D697G
| 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 |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,119,343 (GRCm39) |
|
probably benign |
Het |
| 5730409E04Rik |
A |
G |
4: 126,505,742 (GRCm39) |
E90G |
probably damaging |
Het |
| Abhd6 |
T |
A |
14: 8,039,849 (GRCm38) |
I27N |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,186,277 (GRCm39) |
E1230D |
probably benign |
Het |
| Bcl2l12 |
A |
G |
7: 44,646,317 (GRCm39) |
V31A |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,738,341 (GRCm39) |
R2501W |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,297,072 (GRCm39) |
|
probably null |
Het |
| Crcp |
T |
C |
5: 130,088,699 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
G |
A |
6: 53,670,909 (GRCm39) |
S304N |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,219,296 (GRCm39) |
D38G |
probably benign |
Het |
| Fam171a1 |
A |
G |
2: 3,224,527 (GRCm39) |
I293V |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,748,561 (GRCm39) |
V396A |
possibly damaging |
Het |
| Gm10340 |
G |
A |
14: 14,832,274 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,544,310 (GRCm39) |
T344A |
probably benign |
Het |
| Itga7 |
T |
C |
10: 128,769,958 (GRCm39) |
F34S |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,353,936 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,182,831 (GRCm39) |
N1038K |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,426,493 (GRCm39) |
Y1636H |
probably damaging |
Het |
| Ngef |
G |
T |
1: 87,406,872 (GRCm39) |
T632K |
possibly damaging |
Het |
| Nme1nme2 |
A |
G |
11: 93,846,400 (GRCm39) |
V16A |
probably damaging |
Het |
| Nts |
A |
G |
10: 102,326,108 (GRCm39) |
|
probably benign |
Het |
| Or5ac23 |
A |
T |
16: 59,149,088 (GRCm39) |
H261Q |
probably benign |
Het |
| Or5m8 |
T |
C |
2: 85,822,376 (GRCm39) |
F72L |
probably benign |
Het |
| Or9i1 |
T |
A |
19: 13,839,663 (GRCm39) |
C169S |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,534,026 (GRCm39) |
R1428G |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,525,633 (GRCm39) |
S479P |
|
Het |
| Rnaseh2b |
T |
A |
14: 62,584,064 (GRCm39) |
F37I |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,683,801 (GRCm39) |
I1031N |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,987,151 (GRCm39) |
E344G |
probably benign |
Het |
| Scel |
A |
G |
14: 103,774,444 (GRCm39) |
R89G |
possibly damaging |
Het |
| Sirt4 |
T |
C |
5: 115,621,055 (GRCm39) |
E39G |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,331,334 (GRCm39) |
|
probably null |
Het |
| Snapc3 |
C |
A |
4: 83,368,333 (GRCm39) |
H277N |
probably benign |
Het |
| Susd2 |
A |
G |
10: 75,473,333 (GRCm39) |
|
probably null |
Het |
| Tagap1 |
T |
C |
17: 7,223,826 (GRCm39) |
Q290R |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,732,233 (GRCm39) |
|
probably benign |
Het |
| Tmem54 |
A |
T |
4: 129,002,073 (GRCm39) |
H40L |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,889,721 (GRCm39) |
S683P |
probably damaging |
Het |
| Tnpo2 |
A |
G |
8: 85,777,131 (GRCm39) |
D547G |
probably benign |
Het |
| Tpd52l2 |
G |
A |
2: 181,141,667 (GRCm39) |
V17M |
probably benign |
Het |
| Trip11 |
T |
A |
12: 101,861,942 (GRCm39) |
T208S |
probably benign |
Het |
| Ttc17 |
C |
A |
2: 94,194,721 (GRCm39) |
D551Y |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,471,302 (GRCm39) |
W222R |
probably damaging |
Het |
| Xkr8 |
A |
T |
4: 132,455,512 (GRCm39) |
I287N |
probably damaging |
Het |
| Zdhhc2 |
G |
T |
8: 40,926,066 (GRCm39) |
G354C |
probably null |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation