Incidental Mutation 'R5413:Or14c44'
| ID |
427591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or14c44
|
| Ensembl Gene |
ENSMUSG00000061549 |
| Gene Name |
olfactory receptor family 14 subfamily C member 44 |
| Synonyms |
GA_x6K02T2NHDJ-9695951-9695766, Olfr302, Olfr1531-ps1, Olfr301, GA_x6K02T2NHDJ-9693313-9692378, MOR221-4, MOR221-1P, MOR221-1P, MOR211-8P |
| MMRRC Submission |
042982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5413 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
86053057-86062507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86061675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 35
(Y35C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174362]
|
| AlphaFold |
Q7TS04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174362
AA Change: Y35C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133780
Gene: ENSMUSG00000061549
AA Change: Y35C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
39 |
289 |
2e-28 |
PFAM |
|
Pfam:7tm_4
|
137 |
282 |
1.1e-40 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
A |
11: 48,911,204 (GRCm39) |
T410S |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,856,626 (GRCm39) |
S316P |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,919,259 (GRCm39) |
L6F |
probably benign |
Het |
| Clint1 |
T |
C |
11: 45,777,307 (GRCm39) |
V98A |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,080,785 (GRCm39) |
N258S |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,905,310 (GRCm39) |
D723G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,701,831 (GRCm39) |
W1751R |
probably damaging |
Het |
| Daam1 |
C |
A |
12: 71,993,066 (GRCm39) |
L352M |
unknown |
Het |
| Dennd2a |
A |
T |
6: 39,441,227 (GRCm39) |
F964I |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,002,104 (GRCm39) |
L1622P |
probably damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,289,700 (GRCm39) |
L195P |
probably damaging |
Het |
| Esp24 |
A |
C |
17: 39,350,893 (GRCm39) |
E31A |
possibly damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,545 (GRCm39) |
Y11* |
probably null |
Het |
| Fbxl16 |
C |
A |
17: 26,035,817 (GRCm39) |
T138K |
possibly damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,249,196 (GRCm39) |
I129V |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,108,620 (GRCm39) |
N241S |
probably benign |
Het |
| Homer1 |
A |
G |
13: 93,528,287 (GRCm39) |
E274G |
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,084,797 (GRCm39) |
V189A |
possibly damaging |
Het |
| Igkv12-98 |
A |
G |
6: 68,548,078 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Igkv3-3 |
G |
C |
6: 70,664,414 (GRCm39) |
R85S |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,500,320 (GRCm39) |
T144A |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,423,936 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
| Or2n1d |
G |
T |
17: 38,646,515 (GRCm39) |
A156S |
probably benign |
Het |
| Or2y1b |
A |
T |
11: 49,209,240 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or6b13 |
A |
T |
7: 139,782,635 (GRCm39) |
V16E |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,961,855 (GRCm39) |
Y551H |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,096,040 (GRCm39) |
M249T |
possibly damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,538,620 (GRCm39) |
|
probably null |
Het |
| Piwil1 |
G |
A |
5: 128,820,944 (GRCm39) |
V290I |
possibly damaging |
Het |
| Prmt9 |
A |
T |
8: 78,298,638 (GRCm39) |
D444V |
possibly damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,995,173 (GRCm39) |
D677G |
probably damaging |
Het |
| Tmem59 |
A |
G |
4: 107,057,659 (GRCm39) |
E237G |
probably benign |
Het |
| Trpm5 |
A |
T |
7: 142,634,705 (GRCm39) |
I664N |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,257,936 (GRCm39) |
|
probably null |
Het |
| Usp17lc |
C |
A |
7: 103,067,763 (GRCm39) |
Q353K |
probably benign |
Het |
| Uvssa |
G |
A |
5: 33,568,252 (GRCm39) |
V547M |
probably damaging |
Het |
| Vdac1 |
G |
T |
11: 52,265,794 (GRCm39) |
L52F |
probably null |
Het |
| Vmn2r14 |
T |
A |
5: 109,369,154 (GRCm39) |
I140L |
probably benign |
Het |
| Wnt3a |
A |
G |
11: 59,166,182 (GRCm39) |
S33P |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,281,710 (GRCm39) |
Y300N |
probably damaging |
Het |
| Zwilch |
T |
A |
9: 64,075,892 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or14c44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01015:Or14c44
|
APN |
7 |
86,061,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Or14c44
|
APN |
7 |
86,061,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Or14c44
|
APN |
7 |
86,062,167 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01547:Or14c44
|
APN |
7 |
86,062,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0918:Or14c44
|
UTSW |
7 |
86,062,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1559:Or14c44
|
UTSW |
7 |
86,061,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1651:Or14c44
|
UTSW |
7 |
86,057,078 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R2411:Or14c44
|
UTSW |
7 |
86,062,290 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3732:Or14c44
|
UTSW |
7 |
86,061,841 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3832:Or14c44
|
UTSW |
7 |
86,062,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Or14c44
|
UTSW |
7 |
86,062,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5372:Or14c44
|
UTSW |
7 |
86,062,176 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5520:Or14c44
|
UTSW |
7 |
86,062,064 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5579:Or14c44
|
UTSW |
7 |
86,061,934 (GRCm39) |
nonsense |
probably null |
|
|
R6037:Or14c44
|
UTSW |
7 |
86,062,478 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6037:Or14c44
|
UTSW |
7 |
86,062,478 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7251:Or14c44
|
UTSW |
7 |
86,062,209 (GRCm39) |
missense |
probably benign |
|
|
R7340:Or14c44
|
UTSW |
7 |
86,061,957 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7860:Or14c44
|
UTSW |
7 |
86,057,119 (GRCm39) |
start gained |
probably benign |
|
|
R8305:Or14c44
|
UTSW |
7 |
86,061,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Or14c44
|
UTSW |
7 |
86,061,702 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8487:Or14c44
|
UTSW |
7 |
86,061,647 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8799:Or14c44
|
UTSW |
7 |
86,061,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9342:Or14c44
|
UTSW |
7 |
86,062,430 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1176:Or14c44
|
UTSW |
7 |
86,061,906 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
|
| Posted On |
2016-09-01 |
Incidental Mutation