Incidental Mutation 'R6758:Or5h24'
ID |
531119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or5h24
|
Ensembl Gene |
ENSMUSG00000059041 |
Gene Name |
olfactory receptor family 5 subfamily H member 24, pseudogene 1 |
Synonyms |
Olfr192, MOR183-11_p, GA_x54KRFPKG5P-55327126-55326203 |
MMRRC Submission |
044874-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R6758 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
58918429-58922216 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58919328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 9
(E9G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080251]
[ENSMUST00000205727]
[ENSMUST00000206214]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000080251
AA Change: E9G
|
Predicted Effect |
unknown
Transcript: ENSMUST00000205727
AA Change: E9G
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206214
AA Change: E9G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
A |
T |
5: 90,411,172 (GRCm39) |
D1374E |
probably damaging |
Het |
Cd96 |
C |
A |
16: 45,938,367 (GRCm39) |
V33L |
possibly damaging |
Het |
Drd1 |
T |
C |
13: 54,207,308 (GRCm39) |
E295G |
probably benign |
Het |
Fzd8 |
T |
A |
18: 9,213,238 (GRCm39) |
C107S |
possibly damaging |
Het |
Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Gm11595 |
C |
A |
11: 99,663,366 (GRCm39) |
V105L |
unknown |
Het |
Gm11595 |
A |
T |
11: 99,663,367 (GRCm39) |
C104* |
probably null |
Het |
Igsf3 |
T |
C |
3: 101,332,814 (GRCm39) |
Y31H |
probably damaging |
Het |
Ikzf2 |
A |
T |
1: 69,578,059 (GRCm39) |
H483Q |
probably damaging |
Het |
Itgbl1 |
A |
G |
14: 124,094,901 (GRCm39) |
K309E |
probably benign |
Het |
Myt1l |
T |
G |
12: 29,892,599 (GRCm39) |
Y79D |
possibly damaging |
Het |
Nid2 |
T |
A |
14: 19,852,551 (GRCm39) |
S1086R |
probably damaging |
Het |
Or1o1 |
A |
G |
17: 37,716,586 (GRCm39) |
D49G |
probably damaging |
Het |
Or6c65 |
T |
C |
10: 129,603,920 (GRCm39) |
I185T |
probably damaging |
Het |
Rorc |
A |
G |
3: 94,294,825 (GRCm39) |
N51S |
possibly damaging |
Het |
Sanbr |
T |
C |
11: 23,538,475 (GRCm39) |
|
probably null |
Het |
Simc1 |
C |
T |
13: 54,673,361 (GRCm39) |
P570S |
possibly damaging |
Het |
Smn1 |
T |
A |
13: 100,268,946 (GRCm39) |
M264K |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,568,678 (GRCm39) |
D1608G |
probably benign |
Het |
Tll1 |
C |
A |
8: 64,494,439 (GRCm39) |
|
probably null |
Het |
Trim15 |
A |
G |
17: 37,173,233 (GRCm39) |
L284P |
probably benign |
Het |
|
Other mutations in Or5h24 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R3807:Or5h24
|
UTSW |
16 |
58,919,206 (GRCm39) |
makesense |
probably null |
|
R3872:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4008:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4009:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4011:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4043:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4044:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4296:Or5h24
|
UTSW |
16 |
58,919,124 (GRCm39) |
missense |
unknown |
|
R4300:Or5h24
|
UTSW |
16 |
58,918,641 (GRCm39) |
missense |
unknown |
|
R4948:Or5h24
|
UTSW |
16 |
58,919,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R5411:Or5h24
|
UTSW |
16 |
58,919,067 (GRCm39) |
missense |
unknown |
|
R5426:Or5h24
|
UTSW |
16 |
58,918,665 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5436:Or5h24
|
UTSW |
16 |
58,919,182 (GRCm39) |
missense |
unknown |
|
R5597:Or5h24
|
UTSW |
16 |
58,918,710 (GRCm39) |
missense |
unknown |
|
R6882:Or5h24
|
UTSW |
16 |
58,918,990 (GRCm39) |
missense |
unknown |
|
R8026:Or5h24
|
UTSW |
16 |
58,918,731 (GRCm39) |
missense |
unknown |
|
R8224:Or5h24
|
UTSW |
16 |
58,919,117 (GRCm39) |
missense |
unknown |
|
R8313:Or5h24
|
UTSW |
16 |
58,919,004 (GRCm39) |
missense |
unknown |
|
R8827:Or5h24
|
UTSW |
16 |
58,919,061 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCCACTGTGGATGATAGGG -3'
(R):5'- CCAAGAGCCACTAAGTACTAGATG -3'
Sequencing Primer
(F):5'- CACTGTGGATGATAGGGAAGCATCC -3'
(R):5'- GCCACTAAGTACTAGATGGGTAAG -3'
|
Posted On |
2018-08-01 |