Incidental Mutation 'R4639:Or14c45'
ID |
350829 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or14c45
|
Ensembl Gene |
ENSMUSG00000057067 |
Gene Name |
olfactory receptor family 14 subfamily C member 45 |
Synonyms |
Olfr297, GA_x6K02T2NHDJ-9587747-9586815, MOR220-3 |
MMRRC Submission |
041901-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R4639 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
86175967-86176899 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
G to A
at 86175969 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 1
(M1I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134371
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071112]
[ENSMUST00000172965]
|
AlphaFold |
Q7TS07 |
Predicted Effect |
probably null
Transcript: ENSMUST00000071112
AA Change: M1I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132942 Gene: ENSMUSG00000057067 AA Change: M1I
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
305 |
1.9e-45 |
PFAM |
Pfam:7tm_1
|
39 |
288 |
1.4e-19 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000172965
AA Change: M1I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134371 Gene: ENSMUSG00000057067 AA Change: M1I
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
305 |
1.2e-46 |
PFAM |
Pfam:7tm_1
|
39 |
288 |
2e-20 |
PFAM |
|
Meta Mutation Damage Score |
0.7983 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (37/38) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Atad2b |
A |
C |
12: 5,068,053 (GRCm39) |
H1017P |
probably damaging |
Het |
Atp8a1 |
A |
T |
5: 67,813,317 (GRCm39) |
V943D |
probably benign |
Het |
Babam1 |
C |
T |
8: 71,856,951 (GRCm39) |
A304V |
probably damaging |
Het |
Cdk5rap2 |
G |
T |
4: 70,220,413 (GRCm39) |
A584D |
probably damaging |
Het |
Ddx21 |
A |
T |
10: 62,427,616 (GRCm39) |
L429* |
probably null |
Het |
Dsp |
T |
C |
13: 38,380,760 (GRCm39) |
Y2502H |
probably damaging |
Het |
Eaf1 |
G |
A |
14: 31,226,333 (GRCm39) |
D206N |
probably benign |
Het |
Fam43b |
T |
A |
4: 138,123,278 (GRCm39) |
D14V |
possibly damaging |
Het |
Fanca |
T |
A |
8: 124,044,889 (GRCm39) |
K34I |
probably damaging |
Het |
Fzd4 |
T |
C |
7: 89,056,525 (GRCm39) |
Y191H |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gm10479 |
A |
G |
12: 20,483,343 (GRCm39) |
T55A |
probably damaging |
Het |
Gsr |
T |
G |
8: 34,187,284 (GRCm39) |
I488M |
probably damaging |
Het |
Mrs2 |
A |
G |
13: 25,185,767 (GRCm39) |
I135T |
probably damaging |
Het |
Myh13 |
T |
C |
11: 67,232,377 (GRCm39) |
M517T |
possibly damaging |
Het |
Naip1 |
C |
G |
13: 100,580,791 (GRCm39) |
G152A |
probably benign |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nat10 |
G |
A |
2: 103,565,234 (GRCm39) |
T449I |
probably benign |
Het |
Nin |
A |
G |
12: 70,085,375 (GRCm39) |
S1619P |
probably damaging |
Het |
Or5m9b |
A |
G |
2: 85,905,923 (GRCm39) |
I280V |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,479,439 (GRCm39) |
T448A |
probably benign |
Het |
Pcolce2 |
A |
G |
9: 95,519,930 (GRCm39) |
|
probably null |
Het |
Pnp |
C |
T |
14: 51,188,380 (GRCm39) |
R207* |
probably null |
Het |
Ppl |
A |
G |
16: 4,907,310 (GRCm39) |
V995A |
probably damaging |
Het |
Ppp2r2a |
G |
A |
14: 67,276,406 (GRCm39) |
T33I |
probably damaging |
Het |
Pramel20 |
C |
T |
4: 143,298,467 (GRCm39) |
R137C |
probably benign |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
Rgs16 |
G |
T |
1: 153,617,781 (GRCm39) |
C97F |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,444,717 (GRCm39) |
D2254E |
probably benign |
Het |
Slc6a17 |
T |
C |
3: 107,381,597 (GRCm39) |
M495V |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,082,724 (GRCm39) |
I1967V |
probably benign |
Het |
Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
Tcp11l2 |
A |
G |
10: 84,420,800 (GRCm39) |
D13G |
probably damaging |
Het |
Vmn1r167 |
T |
C |
7: 23,205,011 (GRCm39) |
I2V |
probably benign |
Het |
Vwa5a |
T |
C |
9: 38,638,410 (GRCm39) |
|
probably null |
Het |
Wdr95 |
T |
C |
5: 149,505,279 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Or14c45 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01686:Or14c45
|
APN |
7 |
86,175,986 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01823:Or14c45
|
APN |
7 |
86,176,249 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4378001:Or14c45
|
UTSW |
7 |
86,176,306 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0304:Or14c45
|
UTSW |
7 |
86,176,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R0737:Or14c45
|
UTSW |
7 |
86,176,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R2177:Or14c45
|
UTSW |
7 |
86,176,870 (GRCm39) |
missense |
probably benign |
0.01 |
R2436:Or14c45
|
UTSW |
7 |
86,176,591 (GRCm39) |
missense |
probably damaging |
0.99 |
R4289:Or14c45
|
UTSW |
7 |
86,176,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R5202:Or14c45
|
UTSW |
7 |
86,176,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R5782:Or14c45
|
UTSW |
7 |
86,176,421 (GRCm39) |
missense |
probably damaging |
0.98 |
R6446:Or14c45
|
UTSW |
7 |
86,176,310 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6615:Or14c45
|
UTSW |
7 |
86,176,120 (GRCm39) |
missense |
probably benign |
0.06 |
R6920:Or14c45
|
UTSW |
7 |
86,176,522 (GRCm39) |
missense |
probably benign |
0.00 |
R7150:Or14c45
|
UTSW |
7 |
86,176,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R7309:Or14c45
|
UTSW |
7 |
86,176,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R7621:Or14c45
|
UTSW |
7 |
86,176,280 (GRCm39) |
missense |
probably benign |
0.37 |
R8257:Or14c45
|
UTSW |
7 |
86,176,678 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9349:Or14c45
|
UTSW |
7 |
86,176,373 (GRCm39) |
missense |
probably benign |
0.01 |
R9466:Or14c45
|
UTSW |
7 |
86,176,080 (GRCm39) |
missense |
probably benign |
|
R9479:Or14c45
|
UTSW |
7 |
86,176,285 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCAGACCATTTGACAGACAGC -3'
(R):5'- TTCCTGAGGAAGAAGTACATGG -3'
Sequencing Primer
(F):5'- CATTTGACAGACAGCCACATATATG -3'
(R):5'- AGAAGTACATGGGTGTGTTCAG -3'
|
Posted On |
2015-10-08 |