Incidental Mutation 'R8214:Or10ak11'
| ID |
636303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10ak11
|
| Ensembl Gene |
ENSMUSG00000110947 |
| Gene Name |
olfactory receptor family 10 subfamily AK member 11 |
| Synonyms |
Olfr1333, MOR259-6, MOR259-11, GA_x6K02T2QD9B-18703033-18703986 |
| MMRRC Submission |
067656-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R8214 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118686682-118687635 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118687288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 117
(F117L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076019]
[ENSMUST00000106361]
|
| AlphaFold |
Q7TQV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076019
AA Change: F116L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000075398
Gene: ENSMUSG00000110947
AA Change: F116L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
42 |
291 |
4.1e-31 |
PFAM |
|
Pfam:7tm_4
|
140 |
284 |
2.9e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106361
AA Change: F117L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101968
Gene: ENSMUSG00000073768
AA Change: F117L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
309 |
6.1e-56 |
PFAM |
|
Pfam:7tm_1
|
43 |
292 |
3.9e-25 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| 4930438A08Rik |
G |
A |
11: 58,177,447 (GRCm39) |
R52Q |
|
Het |
| Abcc3 |
C |
T |
11: 94,254,344 (GRCm39) |
R718H |
probably damaging |
Het |
| Abcc4 |
T |
C |
14: 118,738,253 (GRCm39) |
M1166V |
probably benign |
Het |
| Abhd16b |
C |
T |
2: 181,135,983 (GRCm39) |
T295I |
probably damaging |
Het |
| Amph |
A |
G |
13: 19,288,468 (GRCm39) |
N319S |
possibly damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,313,944 (GRCm39) |
D425G |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,712,609 (GRCm39) |
S316P |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,431,921 (GRCm39) |
S649P |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,444,196 (GRCm39) |
S411P |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,228,215 (GRCm39) |
E987G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,021,711 (GRCm39) |
D3537G |
probably damaging |
Het |
| Dnpep |
A |
T |
1: 75,292,642 (GRCm39) |
W126R |
probably damaging |
Het |
| Efcab2 |
T |
C |
1: 178,265,015 (GRCm39) |
V27A |
probably benign |
Het |
| Kctd21 |
T |
C |
7: 96,996,548 (GRCm39) |
L7P |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,044,854 (GRCm39) |
T216I |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,345,257 (GRCm39) |
M87K |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,177,691 (GRCm39) |
V1646A |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,502,592 (GRCm39) |
T359A |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,356,685 (GRCm39) |
K1092E |
possibly damaging |
Het |
| Nrg2 |
T |
C |
18: 36,329,729 (GRCm39) |
E162G |
probably benign |
Het |
| Or52e2 |
A |
C |
7: 102,804,613 (GRCm39) |
S114A |
probably damaging |
Het |
| Or5p54 |
T |
A |
7: 107,554,174 (GRCm39) |
S109T |
probably benign |
Het |
| Pcdhb5 |
G |
T |
18: 37,454,636 (GRCm39) |
V339L |
probably benign |
Het |
| Plec |
A |
G |
15: 76,076,484 (GRCm39) |
W145R |
unknown |
Het |
| Polr3f |
A |
G |
2: 144,378,230 (GRCm39) |
N201D |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,662,139 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
A |
G |
18: 58,070,791 (GRCm39) |
I1048V |
probably benign |
Het |
| Sult2a4 |
A |
G |
7: 13,723,401 (GRCm39) |
I39T |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,544,614 (GRCm39) |
V2247A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,645,247 (GRCm39) |
R2385C |
probably damaging |
Het |
| Tomm70a |
G |
T |
16: 56,942,330 (GRCm39) |
A36S |
unknown |
Het |
| Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,369,347 (GRCm39) |
I636V |
probably benign |
Het |
| Unc45b |
A |
G |
11: 82,824,714 (GRCm39) |
I629M |
possibly damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,424 (GRCm39) |
E66G |
noncoding transcript |
Het |
| Vmn1r189 |
C |
T |
13: 22,286,301 (GRCm39) |
V179I |
probably benign |
Het |
| Vmn2r105 |
T |
G |
17: 20,448,775 (GRCm39) |
E134A |
probably benign |
Het |
| Wdr70 |
G |
A |
15: 7,916,851 (GRCm39) |
A522V |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,142,995 (GRCm39) |
C234S |
probably damaging |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly damaging |
Het |
|
| Other mutations in Or10ak11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:Or10ak11
|
APN |
4 |
118,686,989 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03023:Or10ak11
|
APN |
4 |
118,687,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03387:Or10ak11
|
APN |
4 |
118,687,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:Or10ak11
|
UTSW |
4 |
118,687,022 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0532:Or10ak11
|
UTSW |
4 |
118,686,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Or10ak11
|
UTSW |
4 |
118,687,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1906:Or10ak11
|
UTSW |
4 |
118,687,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Or10ak11
|
UTSW |
4 |
118,687,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2260:Or10ak11
|
UTSW |
4 |
118,687,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Or10ak11
|
UTSW |
4 |
118,686,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Or10ak11
|
UTSW |
4 |
118,686,863 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5444:Or10ak11
|
UTSW |
4 |
118,687,308 (GRCm39) |
missense |
probably benign |
|
|
R5817:Or10ak11
|
UTSW |
4 |
118,687,296 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5973:Or10ak11
|
UTSW |
4 |
118,687,413 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5987:Or10ak11
|
UTSW |
4 |
118,687,478 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6031:Or10ak11
|
UTSW |
4 |
118,687,588 (GRCm39) |
splice site |
probably null |
|
|
R6031:Or10ak11
|
UTSW |
4 |
118,687,588 (GRCm39) |
splice site |
probably null |
|
|
R7255:Or10ak11
|
UTSW |
4 |
118,687,149 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7483:Or10ak11
|
UTSW |
4 |
118,687,517 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8479:Or10ak11
|
UTSW |
4 |
118,687,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Or10ak11
|
UTSW |
4 |
118,686,821 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9661:Or10ak11
|
UTSW |
4 |
118,687,526 (GRCm39) |
missense |
probably benign |
0.45 |
|
Z1176:Or10ak11
|
UTSW |
4 |
118,687,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTACGCACTGAAGGAC -3'
(R):5'- AGCTGCACACTCCCATGTAC -3'
Sequencing Primer
(F):5'- CACAAGTAGTGGTTGACCCTG -3'
(R):5'- GCACACTCCCATGTACTTCTTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation