Incidental Mutation 'R0559:Olfml2a'
| ID |
45778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfml2a
|
| Ensembl Gene |
ENSMUSG00000046618 |
| Gene Name |
olfactomedin-like 2A |
| Synonyms |
photomedin-1, 4932431K08Rik |
| MMRRC Submission |
038751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R0559 (G1)
|
| Quality Score |
194 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
38821992-38850597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38849832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 516
(I516T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057279]
|
| AlphaFold |
Q8BHP7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057279
AA Change: I516T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058761
Gene: ENSMUSG00000046618
AA Change: I516T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
39 |
66 |
2.55e-7 |
PROSPERO |
|
internal_repeat_1
|
78 |
105 |
2.55e-7 |
PROSPERO |
|
coiled coil region
|
168 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
407 |
N/A |
INTRINSIC |
|
OLF
|
426 |
681 |
8.73e-69 |
SMART |
|
| Meta Mutation Damage Score |
0.4662 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
97% (34/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,748,535 (GRCm39) |
I289F |
probably benign |
Het |
| Adam15 |
G |
A |
3: 89,251,085 (GRCm39) |
A540V |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,709,062 (GRCm39) |
T254A |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,644,814 (GRCm39) |
V684A |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,876,618 (GRCm39) |
|
probably benign |
Het |
| Arl5b |
T |
C |
2: 15,077,998 (GRCm39) |
Y108H |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,224,597 (GRCm39) |
F331L |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 76,892,833 (GRCm39) |
K785E |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,560 (GRCm39) |
R896W |
probably damaging |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,223 (GRCm39) |
H112L |
probably benign |
Het |
| Fbxl19 |
G |
T |
7: 127,349,390 (GRCm39) |
W160L |
possibly damaging |
Het |
| H1f8 |
T |
C |
6: 115,924,760 (GRCm39) |
Y89H |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,176,053 (GRCm39) |
V626A |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,600,369 (GRCm39) |
K34R |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,196,011 (GRCm39) |
E596G |
probably benign |
Het |
| Or14j5 |
C |
T |
17: 38,161,746 (GRCm39) |
R88* |
probably null |
Het |
| Or5w12 |
T |
G |
2: 87,502,244 (GRCm39) |
T156P |
possibly damaging |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,768,362 (GRCm39) |
F181L |
probably benign |
Het |
| Pkdcc |
G |
A |
17: 83,523,454 (GRCm39) |
G187D |
probably benign |
Het |
| Plekhh3 |
C |
T |
11: 101,055,592 (GRCm39) |
E483K |
possibly damaging |
Het |
| Ptx4 |
C |
T |
17: 25,342,082 (GRCm39) |
Q186* |
probably null |
Het |
| Qsox2 |
T |
A |
2: 26,104,169 (GRCm39) |
H287L |
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,700,483 (GRCm39) |
G1660D |
probably damaging |
Het |
| Scamp1 |
G |
T |
13: 94,344,690 (GRCm39) |
A217E |
possibly damaging |
Het |
| Slc5a9 |
T |
C |
4: 111,742,779 (GRCm39) |
I438V |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,263,895 (GRCm39) |
F818S |
probably damaging |
Het |
| Srl |
G |
A |
16: 4,314,842 (GRCm39) |
P267S |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,331,136 (GRCm39) |
I105T |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,060 (GRCm39) |
Y128H |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,058,282 (GRCm39) |
S907T |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,778,364 (GRCm39) |
R225* |
probably null |
Het |
| Upk3bl |
A |
G |
5: 136,086,330 (GRCm39) |
T89A |
probably benign |
Het |
| Vars1 |
T |
A |
17: 35,233,034 (GRCm39) |
C916* |
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,208 (GRCm39) |
E5G |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,747,419 (GRCm39) |
D568G |
probably damaging |
Het |
| Zgpat |
T |
C |
2: 181,021,985 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Olfml2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01098:Olfml2a
|
APN |
2 |
38,837,226 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02367:Olfml2a
|
APN |
2 |
38,844,680 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03140:Olfml2a
|
APN |
2 |
38,837,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Olfml2a
|
UTSW |
2 |
38,849,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1110:Olfml2a
|
UTSW |
2 |
38,849,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1187:Olfml2a
|
UTSW |
2 |
38,849,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1626:Olfml2a
|
UTSW |
2 |
38,841,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Olfml2a
|
UTSW |
2 |
38,850,231 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2127:Olfml2a
|
UTSW |
2 |
38,831,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2987:Olfml2a
|
UTSW |
2 |
38,837,306 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4428:Olfml2a
|
UTSW |
2 |
38,831,755 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4564:Olfml2a
|
UTSW |
2 |
38,850,306 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4609:Olfml2a
|
UTSW |
2 |
38,847,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4667:Olfml2a
|
UTSW |
2 |
38,839,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4703:Olfml2a
|
UTSW |
2 |
38,841,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Olfml2a
|
UTSW |
2 |
38,850,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5588:Olfml2a
|
UTSW |
2 |
38,850,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5879:Olfml2a
|
UTSW |
2 |
38,850,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Olfml2a
|
UTSW |
2 |
38,841,155 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6484:Olfml2a
|
UTSW |
2 |
38,849,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Olfml2a
|
UTSW |
2 |
38,850,238 (GRCm39) |
nonsense |
probably null |
|
|
R7345:Olfml2a
|
UTSW |
2 |
38,850,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Olfml2a
|
UTSW |
2 |
38,850,273 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7971:Olfml2a
|
UTSW |
2 |
38,831,794 (GRCm39) |
splice site |
probably null |
|
|
R8073:Olfml2a
|
UTSW |
2 |
38,847,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8846:Olfml2a
|
UTSW |
2 |
38,850,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9108:Olfml2a
|
UTSW |
2 |
38,831,753 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9425:Olfml2a
|
UTSW |
2 |
38,847,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Olfml2a
|
UTSW |
2 |
38,850,296 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAGTGCTTCCTTCATGACACCATCTT -3'
(R):5'- GGCGGCTCAACACAATCACCTC -3'
Sequencing Primer
(F):5'- acactccatctcaagcaaaataatc -3'
(R):5'- AATCACCTCATGCTGTGTTTCG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation