Incidental Mutation 'R1194:Or2m13'
| ID |
101007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2m13
|
| Ensembl Gene |
ENSMUSG00000050158 |
| Gene Name |
olfactory receptor family 2 subfamily M member 13 |
| Synonyms |
Olfr165, MOR279-1, GA_x54KRFPKG5P-15855164-15854223 |
| MMRRC Submission |
039266-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R1194 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
19224994-19241884 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19225930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 280
(T280S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052516]
[ENSMUST00000206110]
[ENSMUST00000206410]
|
| AlphaFold |
Q8VFA2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052516
AA Change: T279S
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000062079
Gene: ENSMUSG00000050158
AA Change: T279S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
309 |
5.6e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
306 |
6e-10 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
4e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000103984
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206110
AA Change: T279S
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206410
AA Change: T280S
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.9%
|
| 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 |
|---|
| 1700029F12Rik |
T |
C |
13: 97,166,873 (GRCm39) |
R48G |
unknown |
Het |
| Dock4 |
T |
C |
12: 40,879,615 (GRCm39) |
F1533S |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,658,277 (GRCm39) |
E296G |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,580,841 (GRCm39) |
K717R |
probably benign |
Het |
| Emx2 |
C |
T |
19: 59,447,984 (GRCm39) |
Q12* |
probably null |
Het |
| Fubp1 |
TA |
T |
3: 151,937,606 (GRCm39) |
|
probably null |
Het |
| Gtsf1 |
A |
G |
15: 103,333,901 (GRCm39) |
I25T |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,860,221 (GRCm39) |
S232P |
probably damaging |
Het |
| Myh4 |
G |
A |
11: 67,146,560 (GRCm39) |
|
probably null |
Het |
| Nkapl |
A |
G |
13: 21,652,478 (GRCm39) |
L45P |
unknown |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Prkg2 |
A |
G |
5: 99,119,785 (GRCm39) |
S445P |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slc12a1 |
G |
A |
2: 125,026,687 (GRCm39) |
V441I |
probably benign |
Het |
| Slc7a15 |
T |
A |
12: 8,585,772 (GRCm39) |
T8S |
probably damaging |
Het |
| Spon1 |
A |
G |
7: 113,486,031 (GRCm39) |
R194G |
probably benign |
Het |
| Syne2 |
T |
C |
12: 75,981,287 (GRCm39) |
Y1531H |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
|
| Other mutations in Or2m13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01353:Or2m13
|
APN |
16 |
19,226,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01355:Or2m13
|
APN |
16 |
19,226,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01363:Or2m13
|
APN |
16 |
19,226,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01467:Or2m13
|
APN |
16 |
19,226,539 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02267:Or2m13
|
APN |
16 |
19,225,914 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1624:Or2m13
|
UTSW |
16 |
19,226,454 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2248:Or2m13
|
UTSW |
16 |
19,225,944 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4865:Or2m13
|
UTSW |
16 |
19,226,051 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4988:Or2m13
|
UTSW |
16 |
19,225,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5384:Or2m13
|
UTSW |
16 |
19,226,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Or2m13
|
UTSW |
16 |
19,225,975 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5997:Or2m13
|
UTSW |
16 |
19,226,694 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6301:Or2m13
|
UTSW |
16 |
19,226,167 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6570:Or2m13
|
UTSW |
16 |
19,226,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6703:Or2m13
|
UTSW |
16 |
19,226,122 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6953:Or2m13
|
UTSW |
16 |
19,226,278 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7424:Or2m13
|
UTSW |
16 |
19,225,944 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7975:Or2m13
|
UTSW |
16 |
19,226,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Or2m13
|
UTSW |
16 |
19,225,987 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8880:Or2m13
|
UTSW |
16 |
19,226,396 (GRCm39) |
nonsense |
probably null |
|
|
R9008:Or2m13
|
UTSW |
16 |
19,226,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9394:Or2m13
|
UTSW |
16 |
19,226,019 (GRCm39) |
missense |
probably benign |
|
|
R9698:Or2m13
|
UTSW |
16 |
19,226,342 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Or2m13
|
UTSW |
16 |
19,226,485 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAACCAAATTGGACTCAATGGAAGA -3'
(R):5'- TGTGATATCCCTGCCCTGCTAACT -3'
Sequencing Primer
(F):5'- aggggagtgggggagag -3'
(R):5'- GCATCCTATATCTGTGTGATTCTTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation