Incidental Mutation 'R5203:Or4k44'
| ID |
398235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4k44
|
| Ensembl Gene |
ENSMUSG00000109547 |
| Gene Name |
olfactory receptor family 4 subfamily K member 44 |
| Synonyms |
MOR248-7, GA_x6K02T2Q125-72589785-72588847, Olfr1294 |
| MMRRC Submission |
042778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R5203 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
111367694-111368632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 111367981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 218
(Y218D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000208334]
[ENSMUST00000208675]
[ENSMUST00000215245]
|
| AlphaFold |
Q8VGE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099614
AA Change: Y218D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097209
Gene: ENSMUSG00000094000
AA Change: Y218D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
1.7e-51 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
2e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208334
AA Change: Y218D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208675
AA Change: Y218D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215245
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
G |
16: 4,653,462 (GRCm39) |
S4A |
unknown |
Het |
| Adgrv1 |
A |
T |
13: 81,659,024 (GRCm39) |
N2053K |
possibly damaging |
Het |
| Akr1c13 |
C |
T |
13: 4,247,896 (GRCm39) |
R223* |
probably null |
Het |
| Arhgef11 |
A |
G |
3: 87,642,664 (GRCm39) |
Y1370C |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,409,314 (GRCm39) |
E1731G |
unknown |
Het |
| Cyp2c54 |
A |
T |
19: 40,060,918 (GRCm39) |
V75E |
probably damaging |
Het |
| Fa2h |
A |
G |
8: 112,075,996 (GRCm39) |
M209T |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,224,582 (GRCm39) |
I311T |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 16,289,438 (GRCm39) |
L28F |
possibly damaging |
Het |
| Fntb |
C |
A |
12: 76,884,346 (GRCm39) |
P22Q |
probably benign |
Het |
| Gmeb1 |
T |
C |
4: 131,959,320 (GRCm39) |
|
probably null |
Het |
| Gpr22 |
A |
G |
12: 31,759,787 (GRCm39) |
S112P |
probably damaging |
Het |
| Htr7 |
A |
G |
19: 35,941,792 (GRCm39) |
S464P |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Krt79 |
A |
G |
15: 101,838,175 (GRCm39) |
S527P |
unknown |
Het |
| Lnpep |
A |
T |
17: 17,757,325 (GRCm39) |
D858E |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,427,347 (GRCm39) |
V403F |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,232,646 (GRCm39) |
Q363R |
probably benign |
Het |
| Mtmr10 |
G |
A |
7: 63,967,909 (GRCm39) |
V273I |
probably benign |
Het |
| Mup2 |
T |
A |
4: 60,139,728 (GRCm39) |
E20V |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,410,995 (GRCm39) |
N151S |
probably damaging |
Het |
| Nod2 |
A |
C |
8: 89,391,079 (GRCm39) |
D462A |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,878,247 (GRCm39) |
Y497H |
probably damaging |
Het |
| Or12d2 |
A |
T |
17: 37,625,092 (GRCm39) |
L61Q |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhac1 |
A |
T |
18: 37,224,243 (GRCm39) |
D352V |
probably damaging |
Het |
| Psap |
A |
G |
10: 60,130,755 (GRCm39) |
D195G |
probably damaging |
Het |
| Scyl1 |
G |
A |
19: 5,821,395 (GRCm39) |
|
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,025,720 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
G |
T |
10: 22,521,213 (GRCm39) |
|
probably null |
Het |
| Slc2a12 |
G |
C |
10: 22,568,117 (GRCm39) |
V515L |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,209,061 (GRCm39) |
Y131C |
probably damaging |
Het |
| Ttc27 |
A |
G |
17: 75,084,649 (GRCm39) |
D419G |
probably damaging |
Het |
| Ubxn8 |
T |
C |
8: 34,123,639 (GRCm39) |
E100G |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,358,451 (GRCm39) |
E272G |
probably damaging |
Het |
|
| Other mutations in Or4k44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Or4k44
|
APN |
2 |
111,368,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02304:Or4k44
|
APN |
2 |
111,367,746 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02555:Or4k44
|
APN |
2 |
111,368,262 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0422:Or4k44
|
UTSW |
2 |
111,368,328 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0647:Or4k44
|
UTSW |
2 |
111,367,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0656:Or4k44
|
UTSW |
2 |
111,367,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Or4k44
|
UTSW |
2 |
111,368,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1909:Or4k44
|
UTSW |
2 |
111,368,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Or4k44
|
UTSW |
2 |
111,368,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4671:Or4k44
|
UTSW |
2 |
111,368,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Or4k44
|
UTSW |
2 |
111,368,113 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4809:Or4k44
|
UTSW |
2 |
111,367,956 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4822:Or4k44
|
UTSW |
2 |
111,367,797 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4837:Or4k44
|
UTSW |
2 |
111,368,319 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4880:Or4k44
|
UTSW |
2 |
111,367,698 (GRCm39) |
nonsense |
probably null |
|
|
R5871:Or4k44
|
UTSW |
2 |
111,367,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Or4k44
|
UTSW |
2 |
111,367,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6501:Or4k44
|
UTSW |
2 |
111,368,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7354:Or4k44
|
UTSW |
2 |
111,367,909 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7575:Or4k44
|
UTSW |
2 |
111,368,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7623:Or4k44
|
UTSW |
2 |
111,368,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Or4k44
|
UTSW |
2 |
111,368,521 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7845:Or4k44
|
UTSW |
2 |
111,368,512 (GRCm39) |
nonsense |
probably null |
|
|
R8130:Or4k44
|
UTSW |
2 |
111,367,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9056:Or4k44
|
UTSW |
2 |
111,368,488 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9321:Or4k44
|
UTSW |
2 |
111,368,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or4k44
|
UTSW |
2 |
111,368,159 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Or4k44
|
UTSW |
2 |
111,368,630 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCAGAAAGTTGCCTATGAAC -3'
(R):5'- AGTAGTGATTGTGCATCTGCCC -3'
Sequencing Primer
(F):5'- CCAGAAAGTTGCCTATGAACCTTTTC -3'
(R):5'- GCCCTTTTGTGGTCCCAATGAAATAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation