Incidental Mutation 'R5953:Or5b118'
| ID |
471027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b118
|
| Ensembl Gene |
ENSMUSG00000096273 |
| Gene Name |
olfactory receptor family 5 subfamily B member 118 |
| Synonyms |
Olfr1474, MOR202-26P, GA_x6K02T2RE5P-3803583-3804527, MOR202-42 |
| MMRRC Submission |
043245-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5953 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
13448336-13449280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13448732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 133
(I133F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096202]
[ENSMUST00000207529]
[ENSMUST00000220113]
|
| AlphaFold |
Q7TQQ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096202
AA Change: I133F
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000093916
Gene: ENSMUSG00000096273
AA Change: I133F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
1.6e-52 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
303 |
1e-7 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
8.7e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207529
AA Change: I91F
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220113
AA Change: I133F
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| 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 |
none
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,960,241 (GRCm39) |
S675T |
probably damaging |
Het |
| Acvr2a |
T |
C |
2: 48,780,416 (GRCm39) |
L212P |
probably damaging |
Het |
| Adamts14 |
T |
C |
10: 61,043,225 (GRCm39) |
T751A |
probably damaging |
Het |
| Adgrf2 |
T |
C |
17: 43,021,229 (GRCm39) |
N532D |
probably damaging |
Het |
| Asns |
T |
C |
6: 7,682,285 (GRCm39) |
E220G |
probably benign |
Het |
| Cd209d |
A |
T |
8: 3,927,979 (GRCm39) |
|
probably null |
Het |
| Cenpp |
T |
C |
13: 49,806,161 (GRCm39) |
D2G |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Clec4a3 |
G |
T |
6: 122,946,451 (GRCm39) |
V232L |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,968,156 (GRCm39) |
H792Y |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,206,220 (GRCm39) |
T470S |
probably benign |
Het |
| Cym |
T |
A |
3: 107,120,783 (GRCm39) |
D274V |
probably damaging |
Het |
| Elac2 |
G |
A |
11: 64,890,049 (GRCm39) |
C627Y |
probably benign |
Het |
| Emc7 |
T |
A |
2: 112,289,903 (GRCm39) |
I111N |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,027,871 (GRCm39) |
Y310F |
probably damaging |
Het |
| Fam217b |
C |
T |
2: 178,062,153 (GRCm39) |
S39F |
probably damaging |
Het |
| Fam234b |
G |
T |
6: 135,202,705 (GRCm39) |
R353L |
possibly damaging |
Het |
| Focad |
A |
G |
4: 88,147,572 (GRCm39) |
I404V |
probably benign |
Het |
| Il1rl1 |
T |
A |
1: 40,481,833 (GRCm39) |
D180E |
probably benign |
Het |
| Il2rb |
A |
T |
15: 78,369,182 (GRCm39) |
C256* |
probably null |
Het |
| Intu |
A |
C |
3: 40,633,980 (GRCm39) |
L404F |
probably damaging |
Het |
| Jmy |
G |
A |
13: 93,635,624 (GRCm39) |
T64M |
possibly damaging |
Het |
| Mpl |
C |
A |
4: 118,311,707 (GRCm39) |
S302I |
possibly damaging |
Het |
| Mpl |
T |
A |
4: 118,311,708 (GRCm39) |
S302C |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,287,951 (GRCm39) |
D241Y |
probably damaging |
Het |
| Nlrp3 |
C |
T |
11: 59,437,617 (GRCm39) |
H99Y |
probably benign |
Het |
| Or6c216 |
C |
G |
10: 129,678,483 (GRCm39) |
V143L |
probably benign |
Het |
| Pglyrp1 |
A |
T |
7: 18,624,238 (GRCm39) |
I174F |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,099,815 (GRCm39) |
I1936N |
|
Het |
| Plekhm3 |
C |
T |
1: 64,977,054 (GRCm39) |
E139K |
probably damaging |
Het |
| Pomk |
C |
A |
8: 26,473,076 (GRCm39) |
L292F |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,504,148 (GRCm39) |
I1103T |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,266,401 (GRCm39) |
D38G |
probably damaging |
Het |
| Rapsn |
T |
C |
2: 90,872,308 (GRCm39) |
V214A |
probably benign |
Het |
| S100a9 |
T |
A |
3: 90,600,234 (GRCm39) |
K54M |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,684,570 (GRCm39) |
Y1964H |
probably damaging |
Het |
| Slc17a5 |
T |
C |
9: 78,464,780 (GRCm39) |
N331S |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,958,677 (GRCm39) |
C252S |
probably damaging |
Het |
| Snx9 |
G |
T |
17: 5,958,678 (GRCm39) |
C252F |
probably damaging |
Het |
| Trem1 |
A |
T |
17: 48,544,220 (GRCm39) |
M82L |
probably benign |
Het |
|
| Other mutations in Or5b118 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03256:Or5b118
|
APN |
19 |
13,448,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
D605:Or5b118
|
UTSW |
19 |
13,448,521 (GRCm39) |
nonsense |
probably null |
|
|
R0173:Or5b118
|
UTSW |
19 |
13,449,065 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1102:Or5b118
|
UTSW |
19 |
13,448,771 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1515:Or5b118
|
UTSW |
19 |
13,449,044 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1780:Or5b118
|
UTSW |
19 |
13,448,726 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2061:Or5b118
|
UTSW |
19 |
13,448,605 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4016:Or5b118
|
UTSW |
19 |
13,448,561 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4485:Or5b118
|
UTSW |
19 |
13,448,919 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5119:Or5b118
|
UTSW |
19 |
13,448,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5150:Or5b118
|
UTSW |
19 |
13,448,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5156:Or5b118
|
UTSW |
19 |
13,449,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Or5b118
|
UTSW |
19 |
13,448,336 (GRCm39) |
start codon destroyed |
probably null |
0.78 |
|
R5800:Or5b118
|
UTSW |
19 |
13,449,260 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5840:Or5b118
|
UTSW |
19 |
13,449,242 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5997:Or5b118
|
UTSW |
19 |
13,448,870 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6233:Or5b118
|
UTSW |
19 |
13,449,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Or5b118
|
UTSW |
19 |
13,448,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6847:Or5b118
|
UTSW |
19 |
13,448,402 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6964:Or5b118
|
UTSW |
19 |
13,448,725 (GRCm39) |
nonsense |
probably null |
|
|
R7214:Or5b118
|
UTSW |
19 |
13,448,337 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8001:Or5b118
|
UTSW |
19 |
13,448,786 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8035:Or5b118
|
UTSW |
19 |
13,449,263 (GRCm39) |
missense |
probably benign |
|
|
R8129:Or5b118
|
UTSW |
19 |
13,448,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9018:Or5b118
|
UTSW |
19 |
13,448,721 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9061:Or5b118
|
UTSW |
19 |
13,448,523 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9065:Or5b118
|
UTSW |
19 |
13,448,670 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9373:Or5b118
|
UTSW |
19 |
13,449,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACTGTGTTTATGCCTCAGC -3'
(R):5'- GCCAAGACGAGCAGTGTAATC -3'
Sequencing Primer
(F):5'- TCAGCAATCACCCCCAAGG -3'
(R):5'- GACGAGCAGTGTAATCTCATTTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation