Incidental Mutation 'R5684:Or5p64'
| ID |
443234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5p64
|
| Ensembl Gene |
ENSMUSG00000096465 |
| Gene Name |
olfactory receptor family 5 subfamily P member 64 |
| Synonyms |
Olfr488, MOR204-15, GA_x6K02T2PBJ9-10586187-10585243 |
| MMRRC Submission |
043178-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.258)
|
| Stock # |
R5684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
107854399-107855343 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107855246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 33
(I33N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072968]
[ENSMUST00000211345]
[ENSMUST00000211508]
[ENSMUST00000215173]
|
| AlphaFold |
Q8VG02 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072968
AA Change: I33N
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072735
Gene: ENSMUSG00000096465
AA Change: I33N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
5.7e-53 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
2.6e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211345
AA Change: I33N
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211508
AA Change: I33N
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215173
AA Change: I33N
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
G |
5: 115,017,621 (GRCm39) |
D144G |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,685,939 (GRCm39) |
T172A |
probably benign |
Het |
| Bspry |
T |
C |
4: 62,414,519 (GRCm39) |
F371L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,664,005 (GRCm39) |
F555L |
probably damaging |
Het |
| Colec12 |
T |
C |
18: 9,849,009 (GRCm39) |
S396P |
probably damaging |
Het |
| Creb3l1 |
A |
G |
2: 91,821,076 (GRCm39) |
V336A |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,778,455 (GRCm39) |
N85S |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,270,172 (GRCm39) |
S278P |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Ercc4 |
T |
A |
16: 12,948,465 (GRCm39) |
C561S |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,496,299 (GRCm39) |
K637R |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,853 (GRCm39) |
S1130P |
probably benign |
Het |
| H2-M10.6 |
A |
T |
17: 37,124,746 (GRCm39) |
N221I |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,184,423 (GRCm39) |
K100I |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,660 (GRCm39) |
D144G |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,888 (GRCm39) |
Q545L |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Or13c7d |
T |
C |
4: 43,770,624 (GRCm39) |
N129S |
probably benign |
Het |
| Or5p63 |
A |
T |
7: 107,811,279 (GRCm39) |
Y152* |
probably null |
Het |
| Pidd1 |
A |
T |
7: 141,021,024 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
G |
15: 76,089,796 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,905,346 (GRCm39) |
A1080V |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,701,151 (GRCm39) |
S564T |
possibly damaging |
Het |
| Ppp2ca |
A |
G |
11: 52,004,154 (GRCm39) |
K104E |
probably damaging |
Het |
| Rad54l |
T |
A |
4: 115,957,760 (GRCm39) |
K407M |
probably damaging |
Het |
| Sfn |
T |
A |
4: 133,328,603 (GRCm39) |
K160* |
probably null |
Het |
| Slc22a15 |
A |
G |
3: 101,770,271 (GRCm39) |
S439P |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,715,681 (GRCm39) |
V273D |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,937,561 (GRCm39) |
F471S |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,629,235 (GRCm39) |
E896G |
probably benign |
Het |
| Sorbs3 |
C |
T |
14: 70,418,671 (GRCm39) |
R717Q |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,923,984 (GRCm39) |
E779G |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,800,623 (GRCm39) |
V66A |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,423,706 (GRCm39) |
S400P |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,653,129 (GRCm39) |
V567A |
probably damaging |
Het |
| Vmn2r103 |
T |
G |
17: 20,013,251 (GRCm39) |
I124S |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,676,409 (GRCm39) |
M1188K |
probably benign |
Het |
| Vtn |
G |
A |
11: 78,391,384 (GRCm39) |
G266S |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,012,553 (GRCm39) |
S640P |
possibly damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,288,214 (GRCm39) |
M874K |
probably benign |
Het |
|
| Other mutations in Or5p64 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01575:Or5p64
|
APN |
7 |
107,854,742 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02510:Or5p64
|
APN |
7 |
107,855,348 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02943:Or5p64
|
APN |
7 |
107,854,623 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02962:Or5p64
|
APN |
7 |
107,854,910 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
PIT4472001:Or5p64
|
UTSW |
7 |
107,855,310 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0980:Or5p64
|
UTSW |
7 |
107,855,229 (GRCm39) |
small deletion |
probably benign |
|
|
R0981:Or5p64
|
UTSW |
7 |
107,855,229 (GRCm39) |
small deletion |
probably benign |
|
|
R0981:Or5p64
|
UTSW |
7 |
107,855,228 (GRCm39) |
small deletion |
probably benign |
|
|
R1957:Or5p64
|
UTSW |
7 |
107,854,403 (GRCm39) |
nonsense |
probably null |
|
|
R3147:Or5p64
|
UTSW |
7 |
107,854,883 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4163:Or5p64
|
UTSW |
7 |
107,855,039 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4190:Or5p64
|
UTSW |
7 |
107,855,330 (GRCm39) |
missense |
probably benign |
|
|
R4911:Or5p64
|
UTSW |
7 |
107,855,244 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5274:Or5p64
|
UTSW |
7 |
107,854,842 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6394:Or5p64
|
UTSW |
7 |
107,854,970 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6467:Or5p64
|
UTSW |
7 |
107,855,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7173:Or5p64
|
UTSW |
7 |
107,854,955 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7317:Or5p64
|
UTSW |
7 |
107,854,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7348:Or5p64
|
UTSW |
7 |
107,855,330 (GRCm39) |
missense |
probably benign |
|
|
R7485:Or5p64
|
UTSW |
7 |
107,855,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9358:Or5p64
|
UTSW |
7 |
107,854,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9715:Or5p64
|
UTSW |
7 |
107,855,198 (GRCm39) |
missense |
probably benign |
0.45 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGCCAAGAAGTTGACAAG -3'
(R):5'- TGTGTCTGAAGAGAGCGACAC -3'
Sequencing Primer
(F):5'- CGCCAAGAAGTTGACAAGCATACTG -3'
(R):5'- GGAGAAAGAATCTTTAACTGCCAAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation