Incidental Mutation 'R0783:Or4c119'
ID |
76708 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or4c119
|
Ensembl Gene |
ENSMUSG00000075099 |
Gene Name |
olfactory receptor family 4 subfamily C member 119 |
Synonyms |
Olfr1224, GA_x6K02T2Q125-50635980-50635046, MOR233-15 |
MMRRC Submission |
038963-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R0783 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
88986585-88987517 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 88987235 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 95
(C95S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148938
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099792]
[ENSMUST00000099793]
[ENSMUST00000216833]
[ENSMUST00000216976]
|
AlphaFold |
A3KGY4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099792
AA Change: C95S
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000097380 Gene: ENSMUSG00000075099 AA Change: C95S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
303 |
1.1e-48 |
PFAM |
Pfam:7tm_1
|
39 |
287 |
9.9e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099793
AA Change: C95S
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000097381 Gene: ENSMUSG00000075099 AA Change: C95S
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
39 |
286 |
2e-26 |
PFAM |
Pfam:7tm_4
|
138 |
283 |
5.6e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214069
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216833
AA Change: C95S
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216913
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216976
AA Change: C95S
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.2%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
Abi3bp |
A |
G |
16: 56,415,601 (GRCm39) |
|
probably null |
Het |
Acsm2 |
G |
A |
7: 119,172,340 (GRCm39) |
G61D |
probably damaging |
Het |
Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
Bbs9 |
T |
C |
9: 22,479,010 (GRCm39) |
L151S |
possibly damaging |
Het |
Camk2g |
T |
A |
14: 20,794,704 (GRCm39) |
T173S |
possibly damaging |
Het |
Eif3b |
T |
C |
5: 140,405,592 (GRCm39) |
|
probably benign |
Het |
Eif3i |
A |
C |
4: 129,485,869 (GRCm39) |
F319V |
possibly damaging |
Het |
Eprs1 |
T |
C |
1: 185,130,655 (GRCm39) |
L672P |
probably damaging |
Het |
Fam110d |
G |
A |
4: 133,979,368 (GRCm39) |
R37C |
probably damaging |
Het |
Fras1 |
C |
T |
5: 96,916,289 (GRCm39) |
A3441V |
probably damaging |
Het |
Gigyf2 |
T |
A |
1: 87,334,883 (GRCm39) |
M79K |
probably damaging |
Het |
Hdac1 |
T |
C |
4: 129,411,902 (GRCm39) |
N331S |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,525,824 (GRCm39) |
G3300S |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,053,071 (GRCm39) |
E400G |
probably damaging |
Het |
Irx2 |
T |
C |
13: 72,780,769 (GRCm39) |
|
probably null |
Het |
Itih4 |
G |
A |
14: 30,617,380 (GRCm39) |
E567K |
possibly damaging |
Het |
Klhl5 |
T |
A |
5: 65,313,596 (GRCm39) |
|
probably benign |
Het |
Klk1b8 |
G |
A |
7: 43,451,621 (GRCm39) |
G204E |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,517,680 (GRCm39) |
F1843L |
possibly damaging |
Het |
Mllt6 |
T |
C |
11: 97,556,571 (GRCm39) |
V87A |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Nhlrc3 |
A |
T |
3: 53,369,870 (GRCm39) |
S34T |
probably benign |
Het |
Or10q1 |
T |
C |
19: 13,727,040 (GRCm39) |
L190P |
probably damaging |
Het |
Or52b3 |
A |
G |
7: 102,203,646 (GRCm39) |
I52V |
probably benign |
Het |
Or52s1 |
T |
C |
7: 102,861,877 (GRCm39) |
F259S |
probably damaging |
Het |
Or5h25 |
A |
T |
16: 58,930,532 (GRCm39) |
L147* |
probably null |
Het |
Or8h9 |
A |
G |
2: 86,788,906 (GRCm39) |
C299R |
probably benign |
Het |
Pcnx4 |
T |
C |
12: 72,622,252 (GRCm39) |
W1074R |
probably damaging |
Het |
Pcsk9 |
T |
C |
4: 106,307,314 (GRCm39) |
T310A |
probably benign |
Het |
Pfas |
A |
G |
11: 68,891,347 (GRCm39) |
L250P |
probably damaging |
Het |
Plk5 |
T |
A |
10: 80,196,964 (GRCm39) |
D352E |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,586,672 (GRCm39) |
|
probably benign |
Het |
Serinc3 |
A |
G |
2: 163,478,923 (GRCm39) |
I68T |
possibly damaging |
Het |
Sez6l2 |
A |
G |
7: 126,566,317 (GRCm39) |
T810A |
possibly damaging |
Het |
Tmprss7 |
G |
A |
16: 45,487,969 (GRCm39) |
Q487* |
probably null |
Het |
Tnf |
A |
G |
17: 35,420,650 (GRCm39) |
I56T |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,570,458 (GRCm39) |
S1163T |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,573,874 (GRCm39) |
T23927I |
probably damaging |
Het |
Urb1 |
G |
A |
16: 90,607,185 (GRCm39) |
A15V |
possibly damaging |
Het |
Zfp128 |
C |
T |
7: 12,624,199 (GRCm39) |
P189L |
probably damaging |
Het |
Zfr |
T |
C |
15: 12,162,268 (GRCm39) |
V806A |
probably damaging |
Het |
|
Other mutations in Or4c119 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01670:Or4c119
|
APN |
2 |
88,987,261 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02561:Or4c119
|
APN |
2 |
88,987,485 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0086:Or4c119
|
UTSW |
2 |
88,986,820 (GRCm39) |
missense |
probably benign |
0.01 |
R0096:Or4c119
|
UTSW |
2 |
88,986,640 (GRCm39) |
missense |
probably benign |
0.03 |
R0096:Or4c119
|
UTSW |
2 |
88,986,640 (GRCm39) |
missense |
probably benign |
0.03 |
R1920:Or4c119
|
UTSW |
2 |
88,986,925 (GRCm39) |
missense |
probably benign |
0.44 |
R1921:Or4c119
|
UTSW |
2 |
88,986,925 (GRCm39) |
missense |
probably benign |
0.44 |
R2033:Or4c119
|
UTSW |
2 |
88,987,498 (GRCm39) |
missense |
probably damaging |
0.96 |
R3500:Or4c119
|
UTSW |
2 |
88,987,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R5044:Or4c119
|
UTSW |
2 |
88,987,283 (GRCm39) |
nonsense |
probably null |
|
R5140:Or4c119
|
UTSW |
2 |
88,987,451 (GRCm39) |
missense |
probably benign |
0.12 |
R5253:Or4c119
|
UTSW |
2 |
88,986,801 (GRCm39) |
nonsense |
probably null |
|
R6338:Or4c119
|
UTSW |
2 |
88,986,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R6431:Or4c119
|
UTSW |
2 |
88,987,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R6904:Or4c119
|
UTSW |
2 |
88,987,157 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7259:Or4c119
|
UTSW |
2 |
88,986,854 (GRCm39) |
missense |
probably benign |
0.03 |
R7820:Or4c119
|
UTSW |
2 |
88,986,592 (GRCm39) |
missense |
probably benign |
0.08 |
R9026:Or4c119
|
UTSW |
2 |
88,986,988 (GRCm39) |
missense |
probably benign |
0.22 |
R9076:Or4c119
|
UTSW |
2 |
88,986,719 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9266:Or4c119
|
UTSW |
2 |
88,986,854 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9378:Or4c119
|
UTSW |
2 |
88,987,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R9580:Or4c119
|
UTSW |
2 |
88,987,465 (GRCm39) |
missense |
probably benign |
0.20 |
R9751:Or4c119
|
UTSW |
2 |
88,986,782 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1176:Or4c119
|
UTSW |
2 |
88,986,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGCTATTCCGACTAGGATGCCAC -3'
(R):5'- GCAAAACCAGAGCATTGTCACTGAG -3'
Sequencing Primer
(F):5'- TAGGATGCCACAGAGCCTC -3'
(R):5'- TGCTGGGACTTTCACAGAAC -3'
|
Posted On |
2013-10-16 |