Incidental Mutation 'R6587:Or5b114-ps1'
| ID |
524484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b114-ps1
|
| Ensembl Gene |
|
| Gene Name |
olfactory receptor family 5 subfamily B member 114, pseudogene 1 |
| Synonyms |
MOR202-21, Olfr1468-ps1, GA_x6K02T2RE5P-3706029-3706953 |
| MMRRC Submission |
044711-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R6587 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
13352328-13353249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13352977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 217
(Y217F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207287]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000207287
AA Change: Y217F
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc2 |
TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
2: 25,162,550 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
T |
10: 69,825,982 (GRCm39) |
|
probably benign |
Het |
| Ano3 |
C |
A |
2: 110,628,249 (GRCm39) |
|
probably null |
Het |
| Arhgap39 |
A |
G |
15: 76,621,699 (GRCm39) |
S301P |
probably damaging |
Het |
| Atad2 |
G |
T |
15: 57,984,444 (GRCm39) |
Q295K |
probably benign |
Het |
| Camkmt |
T |
C |
17: 85,421,243 (GRCm39) |
V115A |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,390,571 (GRCm39) |
E1087G |
probably damaging |
Het |
| Cfhr2 |
T |
A |
1: 139,738,596 (GRCm39) |
I322F |
probably benign |
Het |
| Chil6 |
T |
C |
3: 106,312,197 (GRCm39) |
M35V |
probably benign |
Het |
| Cyp3a44 |
T |
C |
5: 145,742,569 (GRCm39) |
T11A |
probably benign |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Ghitm |
A |
T |
14: 36,847,146 (GRCm39) |
Y309* |
probably null |
Het |
| Klhl18 |
T |
C |
9: 110,284,494 (GRCm39) |
H64R |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,860,704 (GRCm39) |
K201R |
probably benign |
Het |
| Lpar3 |
T |
C |
3: 145,946,918 (GRCm39) |
F199L |
probably damaging |
Het |
| Mindy3 |
G |
A |
2: 12,352,927 (GRCm39) |
Q425* |
probably null |
Het |
| P2rx7 |
A |
C |
5: 122,802,613 (GRCm39) |
N207T |
probably damaging |
Het |
| Pcdhb7 |
T |
G |
18: 37,477,156 (GRCm39) |
L764R |
probably benign |
Het |
| Pgap6 |
G |
A |
17: 26,340,538 (GRCm39) |
V641I |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,182 (GRCm39) |
Y378C |
probably damaging |
Het |
| Slc23a2 |
C |
T |
2: 131,920,401 (GRCm39) |
S168N |
possibly damaging |
Het |
| Tmem260 |
A |
G |
14: 48,733,913 (GRCm39) |
|
probably null |
Het |
| Tmprss15 |
T |
G |
16: 78,868,317 (GRCm39) |
L198F |
probably benign |
Het |
| Tulp4 |
C |
T |
17: 6,282,146 (GRCm39) |
T725I |
possibly damaging |
Het |
| Tut4 |
C |
A |
4: 108,336,646 (GRCm39) |
N123K |
probably benign |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 136,016,352 (GRCm39) |
D318G |
possibly damaging |
Het |
|
| Other mutations in Or5b114-ps1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R6046:Or5b114-ps1
|
UTSW |
19 |
13,352,698 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6141:Or5b114-ps1
|
UTSW |
19 |
13,352,647 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6315:Or5b114-ps1
|
UTSW |
19 |
13,352,769 (GRCm39) |
missense |
unknown |
|
|
R6752:Or5b114-ps1
|
UTSW |
19 |
13,352,890 (GRCm39) |
missense |
unknown |
|
|
R6967:Or5b114-ps1
|
UTSW |
19 |
13,352,815 (GRCm39) |
missense |
unknown |
|
|
R7045:Or5b114-ps1
|
UTSW |
19 |
13,352,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Or5b114-ps1
|
UTSW |
19 |
13,353,208 (GRCm39) |
missense |
unknown |
|
|
R7698:Or5b114-ps1
|
UTSW |
19 |
13,352,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7950:Or5b114-ps1
|
UTSW |
19 |
13,352,431 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8673:Or5b114-ps1
|
UTSW |
19 |
13,352,581 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8970:Or5b114-ps1
|
UTSW |
19 |
13,353,117 (GRCm39) |
missense |
unknown |
|
|
R9134:Or5b114-ps1
|
UTSW |
19 |
13,352,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9269:Or5b114-ps1
|
UTSW |
19 |
13,353,004 (GRCm39) |
missense |
unknown |
|
|
R9347:Or5b114-ps1
|
UTSW |
19 |
13,352,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAATGCCTCTATCCATATTGGG -3'
(R):5'- GGTTCAGCATAGGGATGACC -3'
Sequencing Primer
(F):5'- AATGCCTCTATCCATATTGGGGACAC -3'
(R):5'- TTCAGCATAGGGATGACCATGGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation