Incidental Mutation 'R5293:Or4f15'
| ID |
405234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4f15
|
| Ensembl Gene |
ENSMUSG00000109528 |
| Gene Name |
olfactory receptor family 4 subfamily F member 15 |
| Synonyms |
MOR245-5, GA_x6K02T2Q125-73031456-73030518, Olfr1309 |
| MMRRC Submission |
042876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.878)
|
| Stock # |
R5293 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
111813479-111814441 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 111813611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 269
(K269N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099604]
[ENSMUST00000207885]
[ENSMUST00000214537]
[ENSMUST00000214935]
[ENSMUST00000215045]
[ENSMUST00000216948]
[ENSMUST00000217452]
|
| AlphaFold |
Q8VF83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099604
AA Change: K277N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097199
Gene: ENSMUSG00000094747
AA Change: K277N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
38 |
311 |
1.5e-36 |
PFAM |
|
Pfam:7tm_1
|
49 |
295 |
6.5e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207885
AA Change: K277N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214537
AA Change: K269N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214935
AA Change: K269N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215045
AA Change: K269N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216948
AA Change: K269N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217452
AA Change: K269N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
G |
8: 25,300,722 (GRCm39) |
V269A |
possibly damaging |
Het |
| Akap9 |
C |
T |
5: 3,998,687 (GRCm39) |
R19W |
probably damaging |
Het |
| Akr7a5 |
G |
T |
4: 139,041,517 (GRCm39) |
R142L |
probably benign |
Het |
| Atp6v0a2 |
A |
T |
5: 124,784,649 (GRCm39) |
M311L |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,721,844 (GRCm39) |
R17H |
probably damaging |
Het |
| Ccdc116 |
A |
T |
16: 16,959,651 (GRCm39) |
L346Q |
possibly damaging |
Het |
| Copg2 |
T |
A |
6: 30,803,162 (GRCm39) |
N261I |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,170,871 (GRCm39) |
E648G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,868,851 (GRCm39) |
K2334Q |
probably benign |
Het |
| Foxa2 |
T |
C |
2: 147,885,922 (GRCm39) |
T123A |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,601,382 (GRCm39) |
V299A |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,733,640 (GRCm39) |
S26P |
probably damaging |
Het |
| Jkamp |
A |
G |
12: 72,136,883 (GRCm39) |
S84G |
probably benign |
Het |
| Kcnc1 |
A |
G |
7: 46,047,235 (GRCm39) |
H45R |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,900,176 (GRCm39) |
Y626H |
probably damaging |
Het |
| Mmp19 |
T |
A |
10: 128,626,970 (GRCm39) |
V16D |
probably damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,023,599 (GRCm39) |
N280S |
probably benign |
Het |
| Myl7 |
T |
A |
11: 5,848,521 (GRCm39) |
|
probably benign |
Het |
| Ngef |
CCCTCCTCCTCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTCCTCCTCCTC |
1: 87,431,151 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
A |
C |
7: 5,330,614 (GRCm39) |
L594R |
probably damaging |
Het |
| Or2y3 |
T |
A |
17: 38,393,131 (GRCm39) |
H246L |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,486 (GRCm39) |
T162A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,579,300 (GRCm39) |
E1802G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,399,146 (GRCm39) |
V2070A |
probably benign |
Het |
| Plcxd2 |
G |
T |
16: 45,800,706 (GRCm39) |
H173N |
probably damaging |
Het |
| Plec |
C |
G |
15: 76,083,783 (GRCm39) |
W26C |
probably benign |
Het |
| Psmc1 |
C |
T |
12: 100,081,731 (GRCm39) |
T111I |
probably benign |
Het |
| Rbfa |
T |
C |
18: 80,235,981 (GRCm39) |
E256G |
probably benign |
Het |
| Sh3d21 |
T |
A |
4: 126,046,050 (GRCm39) |
T173S |
probably benign |
Het |
| Slc41a3 |
T |
A |
6: 90,603,426 (GRCm39) |
V149E |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,665,757 (GRCm39) |
S186P |
probably damaging |
Het |
| Spag4 |
A |
G |
2: 155,908,111 (GRCm39) |
D29G |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,032,996 (GRCm39) |
V43A |
possibly damaging |
Het |
| Spen |
G |
A |
4: 141,199,717 (GRCm39) |
A2947V |
possibly damaging |
Het |
| Spta1 |
T |
C |
1: 174,023,551 (GRCm39) |
S653P |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,872,596 (GRCm39) |
Y411* |
probably null |
Het |
| Synrg |
C |
T |
11: 83,872,325 (GRCm39) |
L149F |
probably damaging |
Het |
| Trappc11 |
G |
A |
8: 47,946,377 (GRCm39) |
A1085V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,571,276 (GRCm39) |
E18212G |
probably damaging |
Het |
| Wnk4 |
T |
G |
11: 101,166,023 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or4f15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Or4f15
|
APN |
2 |
111,814,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02479:Or4f15
|
APN |
2 |
111,813,730 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0234:Or4f15
|
UTSW |
2 |
111,813,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0234:Or4f15
|
UTSW |
2 |
111,813,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1777:Or4f15
|
UTSW |
2 |
111,814,042 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1994:Or4f15
|
UTSW |
2 |
111,814,429 (GRCm39) |
missense |
probably benign |
|
|
R3892:Or4f15
|
UTSW |
2 |
111,813,486 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3946:Or4f15
|
UTSW |
2 |
111,813,642 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4541:Or4f15
|
UTSW |
2 |
111,813,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5150:Or4f15
|
UTSW |
2 |
111,814,366 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5275:Or4f15
|
UTSW |
2 |
111,814,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6080:Or4f15
|
UTSW |
2 |
111,814,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Or4f15
|
UTSW |
2 |
111,814,396 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6260:Or4f15
|
UTSW |
2 |
111,814,396 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6291:Or4f15
|
UTSW |
2 |
111,813,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6442:Or4f15
|
UTSW |
2 |
111,813,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7013:Or4f15
|
UTSW |
2 |
111,814,308 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7326:Or4f15
|
UTSW |
2 |
111,813,672 (GRCm39) |
nonsense |
probably null |
|
|
R7483:Or4f15
|
UTSW |
2 |
111,814,124 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8078:Or4f15
|
UTSW |
2 |
111,813,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Or4f15
|
UTSW |
2 |
111,814,049 (GRCm39) |
nonsense |
probably null |
|
|
R9800:Or4f15
|
UTSW |
2 |
111,814,194 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0062:Or4f15
|
UTSW |
2 |
111,813,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Or4f15
|
UTSW |
2 |
111,814,098 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGGTACCTTCTTTGAAATGTCC -3'
(R):5'- ACAGTGGGCTCATTTCTGTG -3'
Sequencing Primer
(F):5'- ACCTTCTTTGAAATGTCCATGATGGG -3'
(R):5'- GTGGGCTCCTTTCTTCTACTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation