Incidental Mutation 'R5798:Or14j10'
| ID |
447325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or14j10
|
| Ensembl Gene |
ENSMUSG00000061336 |
| Gene Name |
olfactory receptor family 14 subfamily J member 10 |
| Synonyms |
Olfr116, MOR218-2, GA_x6K02T2PSCP-2084102-2083137 |
| MMRRC Submission |
043210-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5798 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37934559-37935524 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37934881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 215
(V215A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072265]
[ENSMUST00000216128]
[ENSMUST00000223366]
|
| AlphaFold |
Q923Q6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072265
AA Change: V215A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000072115
Gene: ENSMUSG00000061336
AA Change: V215A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.9e-45 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
2.1e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216128
AA Change: V215A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223366
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,616,929 (GRCm39) |
Y1226* |
probably null |
Het |
| Ankle2 |
A |
G |
5: 110,399,401 (GRCm39) |
Y587C |
probably damaging |
Het |
| Ankrd52 |
T |
A |
10: 128,223,479 (GRCm39) |
M697K |
probably benign |
Het |
| Arhgef40 |
G |
T |
14: 52,234,489 (GRCm39) |
A931S |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,532,884 (GRCm39) |
|
probably null |
Het |
| Ccdc169 |
T |
C |
3: 55,047,545 (GRCm39) |
V12A |
possibly damaging |
Het |
| Ces3b |
T |
A |
8: 105,815,072 (GRCm39) |
C284S |
probably damaging |
Het |
| Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
| Ecel1 |
A |
T |
1: 87,079,205 (GRCm39) |
M491K |
probably damaging |
Het |
| Gnaz |
C |
T |
10: 74,850,703 (GRCm39) |
R243W |
probably damaging |
Het |
| Homer1 |
C |
A |
13: 93,538,603 (GRCm39) |
R311S |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,191,480 (GRCm39) |
D1118G |
probably benign |
Het |
| Or52e7 |
A |
C |
7: 104,685,344 (GRCm39) |
K313T |
probably benign |
Het |
| Pecam1 |
C |
T |
11: 106,586,658 (GRCm39) |
E185K |
possibly damaging |
Het |
| Rfx2 |
A |
T |
17: 57,111,362 (GRCm39) |
V70E |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,717,942 (GRCm39) |
T1474M |
probably damaging |
Het |
| Slc39a12 |
G |
A |
2: 14,454,637 (GRCm39) |
A516T |
probably damaging |
Het |
| Tanc2 |
TGCAGCAGCAGCAGCAGCAGCAGC |
TGCAGCAGCAGCAGCAGCAGC |
11: 105,812,681 (GRCm39) |
|
probably benign |
Het |
| Timd2 |
T |
C |
11: 46,568,064 (GRCm39) |
I243M |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,692,545 (GRCm39) |
S104T |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,446,892 (GRCm39) |
N420S |
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,316,513 (GRCm39) |
I353T |
probably benign |
Het |
|
| Other mutations in Or14j10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02434:Or14j10
|
APN |
17 |
37,935,467 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02639:Or14j10
|
APN |
17 |
37,934,878 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02663:Or14j10
|
APN |
17 |
37,934,935 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0049:Or14j10
|
UTSW |
17 |
37,935,024 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1260:Or14j10
|
UTSW |
17 |
37,934,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1531:Or14j10
|
UTSW |
17 |
37,935,243 (GRCm39) |
nonsense |
probably null |
|
|
R3236:Or14j10
|
UTSW |
17 |
37,935,127 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4083:Or14j10
|
UTSW |
17 |
37,935,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4308:Or14j10
|
UTSW |
17 |
37,934,627 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4887:Or14j10
|
UTSW |
17 |
37,934,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5167:Or14j10
|
UTSW |
17 |
37,934,642 (GRCm39) |
nonsense |
probably null |
|
|
R5323:Or14j10
|
UTSW |
17 |
37,935,046 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5496:Or14j10
|
UTSW |
17 |
37,935,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5530:Or14j10
|
UTSW |
17 |
37,934,698 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5643:Or14j10
|
UTSW |
17 |
37,935,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5644:Or14j10
|
UTSW |
17 |
37,935,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6020:Or14j10
|
UTSW |
17 |
37,934,858 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7058:Or14j10
|
UTSW |
17 |
37,934,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7453:Or14j10
|
UTSW |
17 |
37,935,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7474:Or14j10
|
UTSW |
17 |
37,935,277 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7565:Or14j10
|
UTSW |
17 |
37,935,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7646:Or14j10
|
UTSW |
17 |
37,935,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or14j10
|
UTSW |
17 |
37,935,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1187:Or14j10
|
UTSW |
17 |
37,934,735 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAAAGCAGTTGGAGAGTCTG -3'
(R):5'- GTCCCAGAAAGTGTACGTGG -3'
Sequencing Primer
(F):5'- CTGAGCTTGTGTTTAGATATGCACAG -3'
(R):5'- TGGCTAAGCAGTGTAATTCCAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation