Incidental Mutation 'R6342:Ogfrl1'
| ID |
513904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ogfrl1
|
| Ensembl Gene |
ENSMUSG00000026158 |
| Gene Name |
opioid growth factor receptor-like 1 |
| Synonyms |
2210417C17Rik |
| MMRRC Submission |
044496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R6342 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
23405505-23422282 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 23408944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 427
(K427N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027343]
[ENSMUST00000188677]
|
| AlphaFold |
Q8VE52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027343
AA Change: K427N
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000027343
Gene: ENSMUSG00000026158
AA Change: K427N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
86 |
N/A |
INTRINSIC |
|
Pfam:OGFr_N
|
114 |
320 |
1.7e-104 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188677
|
| SMART Domains |
Protein: ENSMUSP00000139453
Gene: ENSMUSG00000026158
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OGFr_N
|
1 |
92 |
1.6e-38 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa9 |
T |
C |
3: 95,204,101 (GRCm39) |
*346W |
probably null |
Het |
| Ap4b1 |
T |
C |
3: 103,720,684 (GRCm39) |
V118A |
possibly damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,626,942 (GRCm39) |
S183P |
probably damaging |
Het |
| Cadm3 |
T |
C |
1: 173,168,675 (GRCm39) |
T298A |
possibly damaging |
Het |
| Crtc1 |
A |
C |
8: 70,892,207 (GRCm39) |
M1R |
probably null |
Het |
| Dalrd3 |
A |
T |
9: 108,448,322 (GRCm39) |
K291* |
probably null |
Het |
| Dhrs9 |
C |
T |
2: 69,223,531 (GRCm39) |
T93M |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,821,089 (GRCm39) |
S1267* |
probably null |
Het |
| Dsg1b |
T |
C |
18: 20,523,300 (GRCm39) |
I109T |
probably damaging |
Het |
| Epha3 |
C |
A |
16: 63,403,863 (GRCm39) |
R745L |
probably damaging |
Het |
| Evi2 |
A |
G |
11: 79,406,784 (GRCm39) |
S264P |
probably benign |
Het |
| Grin2a |
A |
T |
16: 9,397,198 (GRCm39) |
L963Q |
probably damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,694,370 (GRCm39) |
R192S |
probably benign |
Het |
| Kynu |
G |
T |
2: 43,571,463 (GRCm39) |
D460Y |
probably benign |
Het |
| Lrfn2 |
G |
A |
17: 49,404,028 (GRCm39) |
G717D |
probably benign |
Het |
| Lrp3 |
C |
T |
7: 34,901,731 (GRCm39) |
D696N |
probably benign |
Het |
| Or51a5 |
T |
C |
7: 102,771,563 (GRCm39) |
T143A |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,755,644 (GRCm39) |
I579N |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,009,168 (GRCm39) |
Y2316N |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,351 (GRCm39) |
D430V |
probably damaging |
Het |
| Rp9 |
A |
T |
9: 22,361,154 (GRCm39) |
H44Q |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,558,735 (GRCm39) |
T1035A |
possibly damaging |
Het |
| Slc2a5 |
A |
C |
4: 150,223,983 (GRCm39) |
D225A |
possibly damaging |
Het |
| Tlx3 |
A |
T |
11: 33,152,567 (GRCm39) |
V176E |
possibly damaging |
Het |
| Trpv3 |
G |
A |
11: 73,174,689 (GRCm39) |
G352D |
probably damaging |
Het |
| Ubr4 |
C |
A |
4: 139,156,850 (GRCm39) |
H2292N |
possibly damaging |
Het |
| Wee2 |
A |
G |
6: 40,421,189 (GRCm39) |
H93R |
probably benign |
Het |
| Xirp2 |
T |
G |
2: 67,341,994 (GRCm39) |
L1412V |
possibly damaging |
Het |
| Zfat |
T |
C |
15: 68,052,831 (GRCm39) |
H321R |
probably damaging |
Het |
| Zfp623 |
C |
A |
15: 75,819,837 (GRCm39) |
C264* |
probably null |
Het |
| Zfp687 |
G |
C |
3: 94,919,188 (GRCm39) |
P195A |
probably benign |
Het |
|
| Other mutations in Ogfrl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Ogfrl1
|
APN |
1 |
23,409,171 (GRCm39) |
missense |
probably benign |
|
|
IGL02200:Ogfrl1
|
APN |
1 |
23,409,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4508001:Ogfrl1
|
UTSW |
1 |
23,409,351 (GRCm39) |
nonsense |
probably null |
|
|
R0012:Ogfrl1
|
UTSW |
1 |
23,409,206 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0735:Ogfrl1
|
UTSW |
1 |
23,414,835 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1474:Ogfrl1
|
UTSW |
1 |
23,414,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3837:Ogfrl1
|
UTSW |
1 |
23,409,041 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4037:Ogfrl1
|
UTSW |
1 |
23,418,045 (GRCm39) |
splice site |
probably benign |
|
|
R4039:Ogfrl1
|
UTSW |
1 |
23,418,045 (GRCm39) |
splice site |
probably benign |
|
|
R4332:Ogfrl1
|
UTSW |
1 |
23,414,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Ogfrl1
|
UTSW |
1 |
23,409,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5056:Ogfrl1
|
UTSW |
1 |
23,418,130 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5994:Ogfrl1
|
UTSW |
1 |
23,418,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Ogfrl1
|
UTSW |
1 |
23,415,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Ogfrl1
|
UTSW |
1 |
23,408,944 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6341:Ogfrl1
|
UTSW |
1 |
23,408,944 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6343:Ogfrl1
|
UTSW |
1 |
23,408,944 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6363:Ogfrl1
|
UTSW |
1 |
23,409,194 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6584:Ogfrl1
|
UTSW |
1 |
23,408,944 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6586:Ogfrl1
|
UTSW |
1 |
23,408,944 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7419:Ogfrl1
|
UTSW |
1 |
23,422,063 (GRCm39) |
nonsense |
probably null |
|
|
R8364:Ogfrl1
|
UTSW |
1 |
23,414,824 (GRCm39) |
nonsense |
probably null |
|
|
R8749:Ogfrl1
|
UTSW |
1 |
23,409,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9539:Ogfrl1
|
UTSW |
1 |
23,415,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCTTCAGGACACATTAGAAAGC -3'
(R):5'- TTTCCCCAGGAGCTAGTCAC -3'
Sequencing Primer
(F):5'- CATTTTGCTGTGCCACTAC -3'
(R):5'- CCCAGGAGCTAGTCACGTAAATAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation