Incidental Mutation 'R4155:Or14a259'
| ID |
315085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or14a259
|
| Ensembl Gene |
ENSMUSG00000055571 |
| Gene Name |
olfactory receptor family 14 subfamily A member 259 |
| Synonyms |
GA_x6K02T2NHDJ-9744055-9745014, Olfr305, MOR219-2 |
| MMRRC Submission |
040999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R4155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
86012584-86013543 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86013270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 92
(I92L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069236]
[ENSMUST00000213255]
[ENSMUST00000213869]
[ENSMUST00000216700]
|
| AlphaFold |
Q7TS02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069236
AA Change: I92L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000068650
Gene: ENSMUSG00000055571
AA Change: I92L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
2.3e-40 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
3.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213255
AA Change: I92L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213869
AA Change: I92L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216700
AA Change: I92L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
| Akt3 |
A |
G |
1: 176,924,543 (GRCm39) |
I184T |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Armc2 |
A |
G |
10: 41,887,863 (GRCm39) |
V40A |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,307,482 (GRCm39) |
Y485H |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,770,177 (GRCm39) |
C1202* |
probably null |
Het |
| Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,903,934 (GRCm39) |
S1242R |
probably benign |
Het |
| Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
| Bsx |
A |
G |
9: 40,787,632 (GRCm39) |
E102G |
probably benign |
Het |
| Casq2 |
A |
T |
3: 102,040,418 (GRCm39) |
|
probably null |
Het |
| Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
| Copa |
T |
G |
1: 171,928,992 (GRCm39) |
N251K |
probably damaging |
Het |
| Cst8 |
C |
A |
2: 148,641,996 (GRCm39) |
A31E |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
| Fbn2 |
C |
A |
18: 58,156,359 (GRCm39) |
E2487* |
probably null |
Het |
| Hoxd9 |
A |
G |
2: 74,529,667 (GRCm39) |
I308V |
probably benign |
Het |
| Ica1l |
G |
A |
1: 60,053,052 (GRCm39) |
A162V |
possibly damaging |
Het |
| Kcnj15 |
A |
T |
16: 95,097,166 (GRCm39) |
K263* |
probably null |
Het |
| Mettl4 |
T |
C |
17: 95,048,003 (GRCm39) |
M213V |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,283,023 (GRCm39) |
Y342F |
possibly damaging |
Het |
| Ncan |
C |
A |
8: 70,562,727 (GRCm39) |
E510D |
possibly damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
| Or4c127 |
A |
G |
2: 89,833,004 (GRCm39) |
S85G |
probably benign |
Het |
| Or52s19 |
T |
C |
7: 103,008,363 (GRCm39) |
T13A |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,451 (GRCm39) |
T160S |
probably damaging |
Het |
| P2rx5 |
A |
G |
11: 73,062,655 (GRCm39) |
T455A |
probably damaging |
Het |
| Pcdh1 |
T |
A |
18: 38,336,159 (GRCm39) |
T159S |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,166,993 (GRCm39) |
V755A |
possibly damaging |
Het |
| Pou4f1 |
C |
T |
14: 104,705,153 (GRCm39) |
S6N |
possibly damaging |
Het |
| Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
| Samd4 |
T |
A |
14: 47,290,403 (GRCm39) |
M170K |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tmcc1 |
C |
T |
6: 116,110,765 (GRCm39) |
G176D |
probably benign |
Het |
| Tmem232 |
A |
T |
17: 65,743,328 (GRCm39) |
M321K |
probably damaging |
Het |
| Tnfsf11 |
A |
G |
14: 78,537,309 (GRCm39) |
M118T |
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
| Ttc27 |
T |
G |
17: 75,147,455 (GRCm39) |
I669S |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,597,172 (GRCm39) |
L73H |
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
probably damaging |
Het |
|
| Other mutations in Or14a259 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01071:Or14a259
|
APN |
7 |
86,012,768 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02102:Or14a259
|
APN |
7 |
86,013,074 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02424:Or14a259
|
APN |
7 |
86,012,688 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02664:Or14a259
|
APN |
7 |
86,012,811 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03167:Or14a259
|
APN |
7 |
86,013,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0035:Or14a259
|
UTSW |
7 |
86,013,395 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0373:Or14a259
|
UTSW |
7 |
86,013,013 (GRCm39) |
nonsense |
probably null |
|
|
R0510:Or14a259
|
UTSW |
7 |
86,013,035 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2214:Or14a259
|
UTSW |
7 |
86,013,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3147:Or14a259
|
UTSW |
7 |
86,013,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3623:Or14a259
|
UTSW |
7 |
86,013,308 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4332:Or14a259
|
UTSW |
7 |
86,013,080 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4785:Or14a259
|
UTSW |
7 |
86,012,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Or14a259
|
UTSW |
7 |
86,012,952 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4871:Or14a259
|
UTSW |
7 |
86,012,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5161:Or14a259
|
UTSW |
7 |
86,013,546 (GRCm39) |
splice site |
probably null |
|
|
R5254:Or14a259
|
UTSW |
7 |
86,013,398 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6430:Or14a259
|
UTSW |
7 |
86,013,181 (GRCm39) |
nonsense |
probably null |
|
|
R7734:Or14a259
|
UTSW |
7 |
86,013,476 (GRCm39) |
missense |
not run |
|
|
R8520:Or14a259
|
UTSW |
7 |
86,013,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8682:Or14a259
|
UTSW |
7 |
86,013,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9407:Or14a259
|
UTSW |
7 |
86,013,194 (GRCm39) |
nonsense |
probably null |
|
|
R9728:Or14a259
|
UTSW |
7 |
86,012,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF010:Or14a259
|
UTSW |
7 |
86,012,594 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATAATCCAGTGCCCCAGG -3'
(R):5'- CATGAGCTACAGATTCTATGTGGAG -3'
Sequencing Primer
(F):5'- TCCAGTGCCCCAGGAAACG -3'
(R):5'- GTGGATCTGAAGCTCCAA -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation