Incidental Mutation 'R6890:Or13p4'
| ID |
537147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13p4
|
| Ensembl Gene |
ENSMUSG00000043383 |
| Gene Name |
olfactory receptor family 13 subfamily P member 4 |
| Synonyms |
GA_x6K02T2QD9B-18856980-18857927, MOR258-3, Olfr1342 |
| MMRRC Submission |
044984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6890 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118546349-118550231 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118546728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 307
(V307A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060562]
[ENSMUST00000216226]
|
| AlphaFold |
Q8VFY3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060562
AA Change: V307A
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000053925
Gene: ENSMUSG00000043383
AA Change: V307A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
34 |
311 |
1.5e-55 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
243 |
1.6e-5 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
4.2e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216226
AA Change: V307A
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (39/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg3 |
T |
C |
16: 20,424,736 (GRCm39) |
T270A |
possibly damaging |
Het |
| Ambp |
G |
C |
4: 63,068,596 (GRCm39) |
H140Q |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 14,978,786 (GRCm39) |
C18R |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,271,730 (GRCm39) |
F548S |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,948,796 (GRCm39) |
Y228H |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,807,602 (GRCm39) |
D346G |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,949,318 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,539,587 (GRCm39) |
L1285Q |
unknown |
Het |
| Cspg5 |
T |
C |
9: 110,075,852 (GRCm39) |
L196P |
probably damaging |
Het |
| Dusp10 |
T |
G |
1: 183,801,393 (GRCm39) |
Y387D |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,663,140 (GRCm39) |
D681E |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,489,255 (GRCm39) |
V381A |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,265,810 (GRCm39) |
S336R |
probably benign |
Het |
| Gm49368 |
A |
G |
7: 127,680,901 (GRCm39) |
R277G |
probably benign |
Het |
| Gsg1 |
C |
T |
6: 135,214,418 (GRCm39) |
V320I |
probably benign |
Het |
| Iglc3 |
T |
A |
16: 18,884,258 (GRCm39) |
|
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,942,769 (GRCm39) |
N598K |
probably benign |
Het |
| Malsu1 |
A |
G |
6: 49,052,185 (GRCm39) |
Y135C |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,846,283 (GRCm39) |
I477T |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,823,508 (GRCm39) |
S286R |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Niban3 |
T |
A |
8: 72,058,315 (GRCm39) |
V540D |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,158,470 (GRCm39) |
C98* |
probably null |
Het |
| Nphp3 |
A |
C |
9: 103,919,153 (GRCm39) |
Y1267S |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,883,478 (GRCm39) |
V317A |
possibly damaging |
Het |
| Nsun6 |
A |
G |
2: 15,053,788 (GRCm39) |
I7T |
probably damaging |
Het |
| Or51ai2 |
A |
T |
7: 103,587,066 (GRCm39) |
T160S |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,445 (GRCm39) |
T180I |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,018,150 (GRCm39) |
H1330R |
probably benign |
Het |
| Rad17 |
T |
C |
13: 100,773,592 (GRCm39) |
I201V |
probably benign |
Het |
| Slc26a4 |
G |
A |
12: 31,599,950 (GRCm39) |
T126M |
possibly damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,988,528 (GRCm39) |
L393* |
probably null |
Het |
| Snx2 |
A |
G |
18: 53,345,951 (GRCm39) |
H378R |
probably damaging |
Het |
| Tex21 |
A |
G |
12: 76,286,229 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,919,374 (GRCm39) |
|
probably benign |
Het |
| Vpreb1b |
T |
C |
16: 17,798,820 (GRCm39) |
I102T |
probably damaging |
Het |
| Zfp617 |
T |
G |
8: 72,686,010 (GRCm39) |
H113Q |
probably benign |
Het |
| Zgpat |
T |
A |
2: 181,020,304 (GRCm39) |
I237N |
probably damaging |
Het |
|
| Other mutations in Or13p4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01823:Or13p4
|
APN |
4 |
118,546,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02391:Or13p4
|
APN |
4 |
118,547,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Or13p4
|
UTSW |
4 |
118,547,269 (GRCm39) |
missense |
probably benign |
|
|
R1565:Or13p4
|
UTSW |
4 |
118,547,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Or13p4
|
UTSW |
4 |
118,547,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1823:Or13p4
|
UTSW |
4 |
118,547,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2343:Or13p4
|
UTSW |
4 |
118,547,384 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4618:Or13p4
|
UTSW |
4 |
118,546,667 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4941:Or13p4
|
UTSW |
4 |
118,547,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5408:Or13p4
|
UTSW |
4 |
118,547,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5587:Or13p4
|
UTSW |
4 |
118,547,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5895:Or13p4
|
UTSW |
4 |
118,547,314 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6023:Or13p4
|
UTSW |
4 |
118,547,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6307:Or13p4
|
UTSW |
4 |
118,547,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6324:Or13p4
|
UTSW |
4 |
118,547,728 (GRCm39) |
start gained |
probably benign |
|
|
R7218:Or13p4
|
UTSW |
4 |
118,547,215 (GRCm39) |
missense |
probably benign |
|
|
R7408:Or13p4
|
UTSW |
4 |
118,546,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7555:Or13p4
|
UTSW |
4 |
118,546,839 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7749:Or13p4
|
UTSW |
4 |
118,547,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Or13p4
|
UTSW |
4 |
118,547,406 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8493:Or13p4
|
UTSW |
4 |
118,547,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9445:Or13p4
|
UTSW |
4 |
118,547,416 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9500:Or13p4
|
UTSW |
4 |
118,546,930 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1176:Or13p4
|
UTSW |
4 |
118,547,469 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTAACAAGCAATGGTGGGAC -3'
(R):5'- ATCTTAAGAATCCGCTCATCCCAG -3'
Sequencing Primer
(F):5'- ACTTTTGTTTAGGAGTGGCCACAAC -3'
(R):5'- GGAGGCTCAAGTCCTTCTCCAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation