Incidental Mutation 'R3775:Or13p3'
| ID |
273542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13p3
|
| Ensembl Gene |
ENSMUSG00000046790 |
| Gene Name |
olfactory receptor family 13 subfamily P member 3 |
| Synonyms |
GA_x6K02T2QD9B-18838170-18837232, MOR258-1, Olfr1341 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R3775 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118566606-118567544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118567351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 249
(T249I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061215]
[ENSMUST00000214131]
[ENSMUST00000215117]
|
| AlphaFold |
Q7TQV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061215
AA Change: T249I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095523
Gene: ENSMUSG00000046790
AA Change: T249I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
8.4e-54 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
304 |
1.5e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.7e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214131
AA Change: T249I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215117
AA Change: T249I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| 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 |
|---|
| Ahnak |
A |
G |
19: 8,986,387 (GRCm39) |
E2557G |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,414,075 (GRCm39) |
S1248P |
unknown |
Het |
| C2cd3 |
T |
C |
7: 100,081,205 (GRCm39) |
L1327S |
probably damaging |
Het |
| Ccnh |
T |
C |
13: 85,354,243 (GRCm39) |
|
probably benign |
Het |
| Dcdc5 |
C |
A |
2: 106,202,738 (GRCm39) |
|
noncoding transcript |
Het |
| Eprs1 |
T |
C |
1: 185,105,205 (GRCm39) |
F160S |
probably damaging |
Het |
| F9 |
A |
G |
X: 59,064,345 (GRCm39) |
I190V |
probably benign |
Het |
| Fam185a |
C |
A |
5: 21,660,804 (GRCm39) |
A273D |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,058,270 (GRCm39) |
|
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,720,029 (GRCm39) |
D534G |
probably damaging |
Het |
| Ints6l |
T |
C |
X: 55,526,731 (GRCm39) |
L220S |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,182,357 (GRCm39) |
T250A |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Msh6 |
G |
T |
17: 88,293,609 (GRCm39) |
R788L |
probably damaging |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,126 (GRCm39) |
|
probably benign |
Het |
| Npy1r |
T |
C |
8: 67,157,502 (GRCm39) |
F271L |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or1o2 |
T |
A |
17: 37,543,121 (GRCm39) |
I47F |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,167 (GRCm39) |
E205G |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pecr |
A |
G |
1: 72,298,530 (GRCm39) |
F297L |
probably benign |
Het |
| Pgr15l |
G |
T |
X: 96,120,747 (GRCm39) |
R181M |
probably damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably damaging |
Het |
| Ppm1d |
T |
C |
11: 85,227,993 (GRCm39) |
I303T |
probably damaging |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,011 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,769,880 (GRCm39) |
F186L |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,692,549 (GRCm39) |
D219G |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Vmn2r29 |
C |
G |
7: 7,243,011 (GRCm39) |
D500H |
probably damaging |
Het |
|
| Other mutations in Or13p3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00983:Or13p3
|
APN |
4 |
118,567,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02699:Or13p3
|
APN |
4 |
118,567,395 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02798:Or13p3
|
APN |
4 |
118,566,696 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03271:Or13p3
|
APN |
4 |
118,566,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0085:Or13p3
|
UTSW |
4 |
118,567,078 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0355:Or13p3
|
UTSW |
4 |
118,566,808 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1134:Or13p3
|
UTSW |
4 |
118,567,476 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1561:Or13p3
|
UTSW |
4 |
118,566,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Or13p3
|
UTSW |
4 |
118,566,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2167:Or13p3
|
UTSW |
4 |
118,567,252 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2182:Or13p3
|
UTSW |
4 |
118,567,542 (GRCm39) |
makesense |
probably null |
|
|
R2237:Or13p3
|
UTSW |
4 |
118,567,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6000:Or13p3
|
UTSW |
4 |
118,567,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6249:Or13p3
|
UTSW |
4 |
118,566,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Or13p3
|
UTSW |
4 |
118,567,144 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6527:Or13p3
|
UTSW |
4 |
118,567,045 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7795:Or13p3
|
UTSW |
4 |
118,566,855 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8752:Or13p3
|
UTSW |
4 |
118,567,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9281:Or13p3
|
UTSW |
4 |
118,566,592 (GRCm39) |
start gained |
probably benign |
|
|
R9366:Or13p3
|
UTSW |
4 |
118,566,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9389:Or13p3
|
UTSW |
4 |
118,567,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9518:Or13p3
|
UTSW |
4 |
118,567,120 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0063:Or13p3
|
UTSW |
4 |
118,566,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or13p3
|
UTSW |
4 |
118,567,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Or13p3
|
UTSW |
4 |
118,567,355 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAAAGCTGGCTTGTGCAG -3'
(R):5'- TCCTTCTAGGGACTCATTCTGG -3'
Sequencing Primer
(F):5'- AAGCTGGCTTGTGCAGATACATC -3'
(R):5'- GACTCATTCTGGGGGTCTACCAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation