Incidental Mutation 'R6599:Or7e175'
| ID |
525123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or7e175
|
| Ensembl Gene |
ENSMUSG00000058491 |
| Gene Name |
olfactory receptor family 7 subfamily E member 175 |
| Synonyms |
Olfr869, MOR145-6, GA_x6K02T2PVTD-13878275-13879204 |
| MMRRC Submission |
044723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6599 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20040305-20050059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20049239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 276
(S276P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075717]
[ENSMUST00000213024]
|
| AlphaFold |
A0A2I3BRV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075717
AA Change: S276P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075135
Gene: ENSMUSG00000049028
AA Change: S276P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
45 |
321 |
6.2e-43 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
49 |
309 |
3e-8 |
PFAM |
|
Pfam:7tm_1
|
55 |
304 |
1.5e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213024
AA Change: S276P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6217 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
94% (32/34) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,882,250 (GRCm39) |
H150R |
probably benign |
Het |
| Acbd5 |
C |
T |
2: 22,959,092 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
G |
A |
6: 55,456,979 (GRCm39) |
V237M |
probably damaging |
Het |
| Akr1c6 |
T |
G |
13: 4,499,318 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
T |
A |
8: 129,893,462 (GRCm39) |
F96L |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,315,484 (GRCm39) |
H2983R |
possibly damaging |
Het |
| Dhx40 |
T |
A |
11: 86,695,175 (GRCm39) |
I112L |
possibly damaging |
Het |
| Dnmbp |
A |
T |
19: 43,845,025 (GRCm39) |
D1070E |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ep300 |
G |
C |
15: 81,470,914 (GRCm39) |
D29H |
unknown |
Het |
| Exoc3 |
T |
C |
13: 74,337,277 (GRCm39) |
|
probably null |
Het |
| Fcsk |
A |
T |
8: 111,619,915 (GRCm39) |
|
probably null |
Het |
| Gm6401 |
C |
A |
14: 41,788,821 (GRCm39) |
E83* |
probably null |
Het |
| Gm8267 |
G |
T |
14: 44,955,367 (GRCm39) |
T218K |
possibly damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,451 (GRCm39) |
|
probably null |
Het |
| Hif3a |
T |
A |
7: 16,776,530 (GRCm39) |
D470V |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,917,505 (GRCm39) |
S1526G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,749 (GRCm39) |
D3101G |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,342,544 (GRCm39) |
|
probably null |
Het |
| Mthfs |
G |
A |
9: 89,121,961 (GRCm39) |
G149D |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,514,669 (GRCm39) |
D116G |
probably benign |
Het |
| Nqo2 |
T |
C |
13: 34,163,539 (GRCm39) |
F22S |
probably damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,506 (GRCm39) |
M216L |
probably benign |
Het |
| Parm1 |
T |
C |
5: 91,741,718 (GRCm39) |
S29P |
possibly damaging |
Het |
| Prokr2 |
C |
T |
2: 132,215,469 (GRCm39) |
V331M |
possibly damaging |
Het |
| Ptch1 |
T |
A |
13: 63,670,918 (GRCm39) |
I871F |
probably damaging |
Het |
| Rps6ka5 |
C |
A |
12: 100,564,168 (GRCm39) |
G227V |
probably damaging |
Het |
| Tcaim |
C |
T |
9: 122,663,844 (GRCm39) |
Q445* |
probably null |
Het |
| Trappc14 |
G |
T |
5: 138,261,720 (GRCm39) |
|
probably null |
Het |
| Trpc7 |
T |
C |
13: 56,958,193 (GRCm39) |
|
probably null |
Het |
| Ubxn7 |
A |
G |
16: 32,203,743 (GRCm39) |
E465G |
probably damaging |
Het |
| Unk |
G |
A |
11: 115,938,628 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,551 (GRCm39) |
N261I |
probably benign |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,886 (GRCm39) |
K134* |
probably null |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,944 (GRCm39) |
I669L |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,565,006 (GRCm39) |
I298V |
probably benign |
Het |
| Yipf2 |
T |
C |
9: 21,501,144 (GRCm39) |
K85E |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,083 (GRCm39) |
C209S |
probably benign |
Het |
|
| Other mutations in Or7e175 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Or7e175
|
APN |
9 |
20,048,531 (GRCm39) |
missense |
probably benign |
|
|
IGL01550:Or7e175
|
APN |
9 |
20,048,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02247:Or7e175
|
APN |
9 |
20,048,516 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02448:Or7e175
|
APN |
9 |
20,048,937 (GRCm39) |
nonsense |
probably null |
|
|
IGL03076:Or7e175
|
APN |
9 |
20,049,023 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0045:Or7e175
|
UTSW |
9 |
20,048,487 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0962:Or7e175
|
UTSW |
9 |
20,048,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4588:Or7e175
|
UTSW |
9 |
20,049,383 (GRCm39) |
makesense |
probably null |
|
|
R4931:Or7e175
|
UTSW |
9 |
20,048,858 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5030:Or7e175
|
UTSW |
9 |
20,049,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5759:Or7e175
|
UTSW |
9 |
20,049,228 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5780:Or7e175
|
UTSW |
9 |
20,048,793 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6440:Or7e175
|
UTSW |
9 |
20,048,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6710:Or7e175
|
UTSW |
9 |
20,049,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6953:Or7e175
|
UTSW |
9 |
20,049,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7288:Or7e175
|
UTSW |
9 |
20,048,737 (GRCm39) |
nonsense |
probably null |
|
|
R7585:Or7e175
|
UTSW |
9 |
20,040,307 (GRCm39) |
|
|
|
|
R7860:Or7e175
|
UTSW |
9 |
20,048,871 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8025:Or7e175
|
UTSW |
9 |
20,048,928 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8178:Or7e175
|
UTSW |
9 |
20,048,571 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8794:Or7e175
|
UTSW |
9 |
20,048,630 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8954:Or7e175
|
UTSW |
9 |
20,048,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9116:Or7e175
|
UTSW |
9 |
20,048,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9162:Or7e175
|
UTSW |
9 |
20,040,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9269:Or7e175
|
UTSW |
9 |
20,048,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTCAGTGGCATGGAAATCTC -3'
(R):5'- TGTAGTAGAATGAAAGCCACAACAC -3'
Sequencing Primer
(F):5'- CTGTTCTGAAATGTTCACCAAAAGC -3'
(R):5'- CTCAAACTTCAAAAATGATGGAAGGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation