Incidental Mutation 'R3024:Or4c127'
| ID |
265767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c127
|
| Ensembl Gene |
ENSMUSG00000051313 |
| Gene Name |
olfactory receptor family 4 subfamily C member 127 |
| Synonyms |
GA_x6K02T2Q125-51434523-51435437, Olfr1262, MOR234-1 |
| MMRRC Submission |
040540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R3024 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
89832752-89833666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89833584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 278
(N278I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061701]
[ENSMUST00000111508]
[ENSMUST00000131072]
[ENSMUST00000213868]
|
| AlphaFold |
Q8VGN2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061701
AA Change: N278I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052387
Gene: ENSMUSG00000051313
AA Change: N278I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
30 |
297 |
1.2e-5 |
PFAM |
|
Pfam:7tm_1
|
36 |
282 |
9.9e-24 |
PFAM |
|
Pfam:7tm_4
|
134 |
275 |
1.3e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111508
AA Change: N278I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107133
Gene: ENSMUSG00000051313
AA Change: N278I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
25 |
300 |
6.1e-43 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
30 |
297 |
1.2e-5 |
PFAM |
|
Pfam:7tm_1
|
36 |
282 |
7.1e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131072
|
| SMART Domains |
Protein: ENSMUSP00000121666
Gene: ENSMUSG00000051313
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
30 |
171 |
1.7e-8 |
PFAM |
|
Pfam:7tm_1
|
36 |
238 |
3.2e-22 |
PFAM |
|
Pfam:7tm_4
|
134 |
240 |
5e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213868
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| 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 |
|---|
| Arhgef37 |
T |
C |
18: 61,634,959 (GRCm39) |
E461G |
probably damaging |
Het |
| Bfsp1 |
A |
T |
2: 143,687,879 (GRCm39) |
V182D |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Chil6 |
T |
C |
3: 106,296,086 (GRCm39) |
D383G |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,081,808 (GRCm39) |
A175V |
probably benign |
Het |
| Kcnh7 |
G |
T |
2: 62,595,007 (GRCm39) |
R688S |
probably damaging |
Het |
| Krt6a |
A |
T |
15: 101,599,724 (GRCm39) |
C463S |
probably benign |
Het |
| Ksr2 |
T |
A |
5: 117,693,125 (GRCm39) |
I191N |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,833,272 (GRCm39) |
V1698A |
probably benign |
Het |
| Or12d13 |
A |
T |
17: 37,647,918 (GRCm39) |
D68E |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,763,795 (GRCm39) |
R572Q |
probably benign |
Het |
| Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,927,719 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,129,787 (GRCm39) |
H453R |
probably damaging |
Het |
| Prex1 |
G |
T |
2: 166,430,956 (GRCm39) |
H615Q |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 108,987,982 (GRCm39) |
I41N |
probably damaging |
Het |
| Slc35f5 |
A |
G |
1: 125,496,335 (GRCm39) |
S157G |
probably benign |
Het |
| Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
| Trim41 |
T |
C |
11: 48,698,985 (GRCm39) |
K420E |
possibly damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,375 (GRCm39) |
Y353C |
probably damaging |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,305 (GRCm39) |
I36M |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,147,883 (GRCm39) |
V149D |
probably damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,966,355 (GRCm39) |
E815K |
probably benign |
Het |
|
| Other mutations in Or4c127 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Or4c127
|
APN |
2 |
89,833,365 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03303:Or4c127
|
APN |
2 |
89,832,810 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1216:Or4c127
|
UTSW |
2 |
89,832,822 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1256:Or4c127
|
UTSW |
2 |
89,832,911 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1860:Or4c127
|
UTSW |
2 |
89,833,490 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1864:Or4c127
|
UTSW |
2 |
89,832,825 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1918:Or4c127
|
UTSW |
2 |
89,832,918 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2192:Or4c127
|
UTSW |
2 |
89,832,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4155:Or4c127
|
UTSW |
2 |
89,833,004 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4956:Or4c127
|
UTSW |
2 |
89,833,187 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5298:Or4c127
|
UTSW |
2 |
89,832,804 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5804:Or4c127
|
UTSW |
2 |
89,833,332 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6766:Or4c127
|
UTSW |
2 |
89,832,876 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7674:Or4c127
|
UTSW |
2 |
89,833,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8535:Or4c127
|
UTSW |
2 |
89,833,511 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1176:Or4c127
|
UTSW |
2 |
89,833,392 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCGGGTCAATGTGTTTACTC -3'
(R):5'- CCTGTGCTAATTCTGGTACAAAATG -3'
Sequencing Primer
(F):5'- TTCGCTCCCTAAGGAATCACAGTG -3'
(R):5'- GGTATTCCTGCCTTGCTA -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation