Incidental Mutation 'R8846:Olfml2a'
| ID |
674697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfml2a
|
| Ensembl Gene |
ENSMUSG00000046618 |
| Gene Name |
olfactomedin-like 2A |
| Synonyms |
photomedin-1, 4932431K08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R8846 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
38821992-38850597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38850255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 657
(Y657F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057279]
|
| AlphaFold |
Q8BHP7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057279
AA Change: Y657F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058761
Gene: ENSMUSG00000046618
AA Change: Y657F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,551,610 (GRCm39) |
I1198F |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,637,025 (GRCm39) |
|
probably null |
Het |
| Adprh |
T |
C |
16: 38,267,775 (GRCm39) |
H170R |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,025,956 (GRCm39) |
V820A |
probably benign |
Het |
| B3galt1 |
A |
G |
2: 67,948,717 (GRCm39) |
D144G |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,414,185 (GRCm39) |
R908C |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,883,480 (GRCm39) |
L106P |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,545,786 (GRCm39) |
D820G |
possibly damaging |
Het |
| Gda |
A |
G |
19: 21,389,889 (GRCm39) |
I298T |
probably damaging |
Het |
| Gpr84 |
A |
T |
15: 103,218,037 (GRCm39) |
H13Q |
possibly damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,037,898 (GRCm39) |
S760P |
probably benign |
Het |
| Ighv1-53 |
A |
C |
12: 115,122,165 (GRCm39) |
I70S |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,330,996 (GRCm39) |
I1768N |
probably damaging |
Het |
| Kctd13 |
C |
A |
7: 126,544,191 (GRCm39) |
D296E |
probably benign |
Het |
| Krt76 |
A |
G |
15: 101,795,772 (GRCm39) |
I466T |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,379,388 (GRCm39) |
Y1801H |
possibly damaging |
Het |
| Mapk10 |
A |
G |
5: 103,144,521 (GRCm39) |
F129L |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,841,043 (GRCm39) |
E975K |
probably benign |
Het |
| Nrtn |
C |
T |
17: 57,058,728 (GRCm39) |
R91H |
possibly damaging |
Het |
| Or1j21 |
T |
A |
2: 36,683,689 (GRCm39) |
V147E |
probably benign |
Het |
| Or4d10c |
T |
C |
19: 12,065,433 (GRCm39) |
H241R |
probably damaging |
Het |
| Pfkfb2 |
T |
C |
1: 130,625,648 (GRCm39) |
T511A |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
G |
T |
15: 44,410,358 (GRCm39) |
G2622* |
probably null |
Het |
| Ppp6r3 |
A |
T |
19: 3,564,654 (GRCm39) |
D206E |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
| Rfng |
C |
A |
11: 120,674,972 (GRCm39) |
R6L |
unknown |
Het |
| Scrt1 |
A |
T |
15: 76,405,808 (GRCm39) |
V33E |
possibly damaging |
Het |
| Siglecg |
A |
T |
7: 43,061,942 (GRCm39) |
I563F |
probably benign |
Het |
| Slc1a6 |
G |
A |
10: 78,637,781 (GRCm39) |
A436T |
probably damaging |
Het |
| Slc38a9 |
C |
A |
13: 112,859,814 (GRCm39) |
S416* |
probably null |
Het |
| Sptbn1 |
A |
G |
11: 30,075,009 (GRCm39) |
S1288P |
possibly damaging |
Het |
| Tbce |
A |
G |
13: 14,194,285 (GRCm39) |
|
probably null |
Het |
| Tdpoz8 |
A |
T |
3: 92,981,770 (GRCm39) |
I189F |
possibly damaging |
Het |
| Topors |
A |
G |
4: 40,262,952 (GRCm39) |
F111L |
probably damaging |
Het |
| Vmn1r11 |
T |
C |
6: 57,114,807 (GRCm39) |
M157T |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,867,105 (GRCm39) |
L459P |
|
Het |
| Zfp738 |
T |
C |
13: 67,818,155 (GRCm39) |
N612S |
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 |
|
R0559:Olfml2a
|
UTSW |
2 |
38,849,832 (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 |
|
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'- GGAACTCCTATGGGAACTGC -3'
(R):5'- TGTGGAAGTGTCACCTACTGGG -3'
Sequencing Primer
(F):5'- GAACTCCTATGGGAACTGCTTTCTG -3'
(R):5'- AAGTGTCACCTACTGGGCACTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation