Incidental Mutation 'R3438:Or4c114'
ID |
267269 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or4c114
|
Ensembl Gene |
ENSMUSG00000075104 |
Gene Name |
olfactory receptor family 4 subfamily C member 114 |
Synonyms |
GA_x6K02T2Q125-50555603-50554668, MOR233-6, Olfr1219 |
MMRRC Submission |
040656-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R3438 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
88904498-88905433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88904707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 243
(I243V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099797]
[ENSMUST00000213724]
[ENSMUST00000214442]
[ENSMUST00000215225]
[ENSMUST00000217421]
|
AlphaFold |
Q7TR04 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099797
AA Change: I243V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000097385 Gene: ENSMUSG00000075104 AA Change: I243V
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
303 |
3e-46 |
PFAM |
Pfam:7tm_1
|
39 |
286 |
1.5e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213724
AA Change: I243V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214442
AA Change: I243V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215225
AA Change: I243V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217421
AA Change: I243V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
Meta Mutation Damage Score |
0.1335 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (37/38) |
MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017G19Rik |
A |
G |
3: 40,575,673 (GRCm39) |
|
noncoding transcript |
Het |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Ampd3 |
T |
C |
7: 110,402,433 (GRCm39) |
I479T |
probably damaging |
Het |
Aoah |
G |
A |
13: 21,101,242 (GRCm39) |
R254K |
probably benign |
Het |
Appbp2 |
T |
C |
11: 85,088,966 (GRCm39) |
E358G |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,752,991 (GRCm39) |
S2294P |
possibly damaging |
Het |
Cux1 |
T |
C |
5: 136,340,414 (GRCm39) |
E632G |
probably damaging |
Het |
Cyp7a1 |
T |
C |
4: 6,272,769 (GRCm39) |
N148S |
probably damaging |
Het |
Dgkz |
A |
T |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
Dlgap1 |
A |
T |
17: 70,823,356 (GRCm39) |
S114C |
probably damaging |
Het |
Dmtn |
T |
A |
14: 70,850,156 (GRCm39) |
I263F |
probably damaging |
Het |
Gigyf2 |
C |
A |
1: 87,368,302 (GRCm39) |
H1029N |
probably damaging |
Het |
Gm10770 |
T |
A |
2: 150,021,469 (GRCm39) |
|
probably null |
Het |
Gnb1l |
A |
G |
16: 18,371,117 (GRCm39) |
T203A |
probably benign |
Het |
Kng2 |
T |
C |
16: 22,830,821 (GRCm39) |
I163V |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,102,161 (GRCm39) |
D1479G |
probably benign |
Het |
Larp7-ps |
A |
C |
4: 92,079,919 (GRCm39) |
V23G |
possibly damaging |
Het |
Lhx4 |
T |
A |
1: 155,578,230 (GRCm39) |
D304V |
probably benign |
Het |
Mybl1 |
G |
T |
1: 9,757,870 (GRCm39) |
T143K |
probably damaging |
Het |
Notch3 |
C |
T |
17: 32,372,564 (GRCm39) |
C630Y |
probably damaging |
Het |
Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
Or8b55 |
T |
G |
9: 38,727,512 (GRCm39) |
F238V |
probably damaging |
Het |
Or9e1 |
G |
T |
11: 58,732,698 (GRCm39) |
G253* |
probably null |
Het |
Otoa |
A |
G |
7: 120,759,566 (GRCm39) |
E1056G |
possibly damaging |
Het |
Plin4 |
A |
G |
17: 56,414,193 (GRCm39) |
V144A |
probably benign |
Het |
Sec16b |
T |
C |
1: 157,384,328 (GRCm39) |
|
probably benign |
Het |
Stk31 |
A |
G |
6: 49,414,455 (GRCm39) |
S485G |
probably benign |
Het |
Tanc2 |
C |
T |
11: 105,748,401 (GRCm39) |
P511L |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,357,062 (GRCm39) |
D309G |
probably damaging |
Het |
Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
Vsx2 |
A |
T |
12: 84,616,985 (GRCm39) |
Q90L |
probably damaging |
Het |
|
Other mutations in Or4c114 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01432:Or4c114
|
APN |
2 |
88,904,545 (GRCm39) |
missense |
probably benign |
0.04 |
R0437:Or4c114
|
UTSW |
2 |
88,904,956 (GRCm39) |
missense |
probably benign |
0.00 |
R0653:Or4c114
|
UTSW |
2 |
88,904,808 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1637:Or4c114
|
UTSW |
2 |
88,905,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R1837:Or4c114
|
UTSW |
2 |
88,905,176 (GRCm39) |
nonsense |
probably null |
|
R1906:Or4c114
|
UTSW |
2 |
88,905,414 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2234:Or4c114
|
UTSW |
2 |
88,904,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R2351:Or4c114
|
UTSW |
2 |
88,904,743 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2420:Or4c114
|
UTSW |
2 |
88,905,336 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2421:Or4c114
|
UTSW |
2 |
88,905,336 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4470:Or4c114
|
UTSW |
2 |
88,905,382 (GRCm39) |
missense |
probably benign |
0.01 |
R4607:Or4c114
|
UTSW |
2 |
88,904,656 (GRCm39) |
missense |
probably benign |
0.08 |
R4608:Or4c114
|
UTSW |
2 |
88,904,656 (GRCm39) |
missense |
probably benign |
0.08 |
R4693:Or4c114
|
UTSW |
2 |
88,905,412 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5382:Or4c114
|
UTSW |
2 |
88,905,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R5460:Or4c114
|
UTSW |
2 |
88,905,208 (GRCm39) |
missense |
probably benign |
0.00 |
R5504:Or4c114
|
UTSW |
2 |
88,905,024 (GRCm39) |
missense |
probably benign |
0.00 |
R6053:Or4c114
|
UTSW |
2 |
88,904,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R7057:Or4c114
|
UTSW |
2 |
88,904,808 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7323:Or4c114
|
UTSW |
2 |
88,904,811 (GRCm39) |
missense |
probably damaging |
0.99 |
R7606:Or4c114
|
UTSW |
2 |
88,905,641 (GRCm39) |
start gained |
probably benign |
|
R8229:Or4c114
|
UTSW |
2 |
88,905,382 (GRCm39) |
missense |
possibly damaging |
0.88 |
T0722:Or4c114
|
UTSW |
2 |
88,905,303 (GRCm39) |
missense |
probably benign |
0.07 |
Z1176:Or4c114
|
UTSW |
2 |
88,904,782 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCCCTTTCCCACTGAAGTAAAG -3'
(R):5'- TGAAGCTTGCCTGCACAGAC -3'
Sequencing Primer
(F):5'- AATCTCTTCCACATTTTTCCGATAG -3'
(R):5'- CAGACACACACATTTATGTCCTTTTG -3'
|
Posted On |
2015-02-18 |