Incidental Mutation 'R6588:Or7e173'
| ID |
527423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or7e173
|
| Ensembl Gene |
ENSMUSG00000050803 |
| Gene Name |
olfactory receptor family 7 subfamily E member 173 |
| Synonyms |
Olfr866, MOR145-5, GA_x6K02T2PVTD-13768406-13767468 |
| MMRRC Submission |
044712-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6588 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
19938255-19939331 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 19939162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 24
(P24Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062248]
|
| AlphaFold |
Q8VFI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062248
AA Change: P24Q
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000054864
Gene: ENSMUSG00000050803
AA Change: P24Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
310 |
2e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
282 |
8.7e-7 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
5.1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212071
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,340,766 (GRCm39) |
S132P |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Homo |
| Clcn3 |
T |
C |
8: 61,367,861 (GRCm39) |
I763V |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,481,022 (GRCm39) |
Y1254H |
probably damaging |
Het |
| Erc1 |
C |
T |
6: 119,552,687 (GRCm39) |
A1088T |
possibly damaging |
Het |
| Fhl4 |
A |
G |
10: 84,933,971 (GRCm39) |
V270A |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,349,750 (GRCm39) |
E476G |
probably benign |
Het |
| Ighv1-84 |
T |
A |
12: 115,944,371 (GRCm39) |
Q101L |
probably benign |
Het |
| Itfg1 |
T |
C |
8: 86,462,759 (GRCm39) |
I455V |
probably benign |
Het |
| Kitl |
T |
A |
10: 99,899,954 (GRCm39) |
N86K |
probably damaging |
Het |
| Kmt2c |
C |
T |
5: 25,528,787 (GRCm39) |
G1614E |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,901,386 (GRCm39) |
S564G |
probably benign |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Macroh2a1 |
C |
T |
13: 56,252,302 (GRCm39) |
G97D |
possibly damaging |
Het |
| Mms19 |
C |
T |
19: 41,954,715 (GRCm39) |
R68Q |
probably damaging |
Het |
| Or10aa1 |
G |
T |
1: 173,869,844 (GRCm39) |
M109I |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Zfp64 |
A |
T |
2: 168,768,827 (GRCm39) |
C262S |
probably damaging |
Het |
|
| Other mutations in Or7e173 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01353:Or7e173
|
APN |
9 |
19,938,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01554:Or7e173
|
APN |
9 |
19,938,704 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01561:Or7e173
|
APN |
9 |
19,938,818 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01597:Or7e173
|
APN |
9 |
19,938,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02986:Or7e173
|
APN |
9 |
19,939,007 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03101:Or7e173
|
APN |
9 |
19,938,725 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0863:Or7e173
|
UTSW |
9 |
19,938,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1747:Or7e173
|
UTSW |
9 |
19,938,613 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2121:Or7e173
|
UTSW |
9 |
19,938,797 (GRCm39) |
missense |
probably benign |
|
|
R2124:Or7e173
|
UTSW |
9 |
19,938,797 (GRCm39) |
missense |
probably benign |
|
|
R2240:Or7e173
|
UTSW |
9 |
19,938,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3793:Or7e173
|
UTSW |
9 |
19,938,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4498:Or7e173
|
UTSW |
9 |
19,939,029 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5084:Or7e173
|
UTSW |
9 |
19,938,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5420:Or7e173
|
UTSW |
9 |
19,938,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6314:Or7e173
|
UTSW |
9 |
19,938,958 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6357:Or7e173
|
UTSW |
9 |
19,938,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6886:Or7e173
|
UTSW |
9 |
19,938,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7480:Or7e173
|
UTSW |
9 |
19,939,230 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9026:Or7e173
|
UTSW |
9 |
19,938,344 (GRCm39) |
missense |
|
|
|
R9168:Or7e173
|
UTSW |
9 |
19,938,818 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9280:Or7e173
|
UTSW |
9 |
19,938,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9559:Or7e173
|
UTSW |
9 |
19,939,216 (GRCm39) |
missense |
probably benign |
|
|
R9562:Or7e173
|
UTSW |
9 |
19,939,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or7e173
|
UTSW |
9 |
19,938,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTGCTGTGCATTTTGATG -3'
(R):5'- AGGAAAGGATTTTAGGCATTCTGTG -3'
Sequencing Primer
(F):5'- GATGCCCACAATCATCTTTGGG -3'
(R):5'- CATTCTGTGTTTGTTAAAACTGGGAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation