Incidental Mutation 'R5647:Or4g16'
ID |
441204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or4g16
|
Ensembl Gene |
ENSMUSG00000109813 |
Gene Name |
olfactory receptor family 4 subfamily G member 16 |
Synonyms |
Olfr1279, MOR245-12, GA_x6K02T2Q125-72357646-72358581 |
MMRRC Submission |
043295-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
R5647 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
111136546-111137487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 111137392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 281
(A281S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052153
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062407]
[ENSMUST00000090329]
[ENSMUST00000213823]
[ENSMUST00000216697]
|
AlphaFold |
Q8VF38 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062407
AA Change: A281S
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000052153 Gene: ENSMUSG00000108931 AA Change: A281S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
305 |
7.2e-45 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
34 |
302 |
2.4e-5 |
PFAM |
Pfam:7tm_1
|
41 |
287 |
2e-18 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090329
AA Change: A283S
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000087801 Gene: ENSMUSG00000109813 AA Change: A283S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
33 |
306 |
1.7e-44 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
300 |
3.2e-5 |
PFAM |
Pfam:7tm_1
|
43 |
289 |
7.4e-18 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213823
AA Change: A281S
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216697
AA Change: A281S
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
95% (55/58) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010L04Rik |
T |
C |
7: 82,505,606 (GRCm39) |
|
noncoding transcript |
Het |
9330159F19Rik |
A |
T |
10: 29,101,250 (GRCm39) |
D541V |
probably damaging |
Het |
Abcc5 |
T |
C |
16: 20,218,597 (GRCm39) |
I262V |
probably damaging |
Het |
Acvr1c |
T |
A |
2: 58,185,976 (GRCm39) |
D169V |
probably damaging |
Het |
Aldh16a1 |
A |
G |
7: 44,803,889 (GRCm39) |
V6A |
probably benign |
Het |
Brd10 |
A |
G |
19: 29,731,210 (GRCm39) |
S601P |
possibly damaging |
Het |
Cd36 |
A |
C |
5: 18,019,763 (GRCm39) |
S113A |
probably damaging |
Het |
Cdt1 |
G |
T |
8: 123,296,947 (GRCm39) |
R247L |
possibly damaging |
Het |
Ces4a |
G |
A |
8: 105,872,712 (GRCm39) |
V322M |
probably benign |
Het |
Cngb3 |
A |
T |
4: 19,364,266 (GRCm39) |
T157S |
possibly damaging |
Het |
Cpped1 |
T |
C |
16: 11,646,010 (GRCm39) |
|
probably benign |
Het |
Ctr9 |
G |
T |
7: 110,654,751 (GRCm39) |
R1094L |
unknown |
Het |
Cyld |
A |
T |
8: 89,461,554 (GRCm39) |
I664L |
probably benign |
Het |
Dvl2 |
C |
T |
11: 69,900,275 (GRCm39) |
P690S |
possibly damaging |
Het |
Fbxo7 |
A |
C |
10: 85,864,974 (GRCm39) |
E94D |
probably damaging |
Het |
Fstl5 |
A |
C |
3: 76,496,399 (GRCm39) |
K387N |
probably damaging |
Het |
Gm9845 |
A |
C |
3: 39,412,520 (GRCm39) |
|
noncoding transcript |
Het |
Hk1 |
T |
C |
10: 62,111,523 (GRCm39) |
D746G |
probably damaging |
Het |
Lmbr1 |
A |
G |
5: 29,468,391 (GRCm39) |
|
probably null |
Het |
Lrp2 |
C |
T |
2: 69,350,258 (GRCm39) |
A705T |
probably null |
Het |
Lrrc37 |
T |
C |
11: 103,508,300 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,952,067 (GRCm39) |
|
probably null |
Het |
Myo15b |
T |
A |
11: 115,762,337 (GRCm39) |
L1219Q |
probably damaging |
Het |
Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
Or5b111 |
A |
T |
19: 13,291,553 (GRCm39) |
I32N |
probably damaging |
Het |
Or5b113 |
T |
C |
19: 13,342,541 (GRCm39) |
V183A |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,221,675 (GRCm39) |
T1984A |
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,593,588 (GRCm39) |
L251P |
probably benign |
Het |
Plin1 |
T |
A |
7: 79,371,320 (GRCm39) |
D468V |
probably benign |
Het |
Pmp2 |
A |
G |
3: 10,248,845 (GRCm39) |
V12A |
probably benign |
Het |
Rnf19a |
T |
A |
15: 36,266,109 (GRCm39) |
|
probably benign |
Het |
Rnf214 |
G |
A |
9: 45,779,344 (GRCm39) |
Q469* |
probably null |
Het |
Rrp1b |
T |
G |
17: 32,274,985 (GRCm39) |
|
probably benign |
Het |
Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
Sema3e |
A |
T |
5: 14,275,567 (GRCm39) |
E224V |
probably damaging |
Het |
Sphkap |
A |
G |
1: 83,385,720 (GRCm39) |
S5P |
probably damaging |
Het |
Stab1 |
A |
C |
14: 30,879,397 (GRCm39) |
Y694* |
probably null |
Het |
Stambpl1 |
T |
C |
19: 34,211,686 (GRCm39) |
L249P |
probably benign |
Het |
Thap4 |
A |
T |
1: 93,642,665 (GRCm39) |
H515Q |
probably damaging |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Uaca |
A |
G |
9: 60,779,380 (GRCm39) |
R1256G |
probably benign |
Het |
Usp17lb |
T |
A |
7: 104,489,881 (GRCm39) |
N348Y |
possibly damaging |
Het |
Vmn1r42 |
A |
G |
6: 89,822,314 (GRCm39) |
I85T |
probably benign |
Het |
Vps9d1 |
A |
T |
8: 123,975,598 (GRCm39) |
L149Q |
probably damaging |
Het |
Zdhhc17 |
A |
T |
10: 110,809,694 (GRCm39) |
I153N |
probably damaging |
Het |
Zfp207 |
G |
A |
11: 80,283,959 (GRCm39) |
S293N |
possibly damaging |
Het |
Zfp346 |
A |
G |
13: 55,270,170 (GRCm39) |
D198G |
probably damaging |
Het |
Zfp953 |
A |
T |
13: 67,491,536 (GRCm39) |
C139S |
possibly damaging |
Het |
|
Other mutations in Or4g16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01095:Or4g16
|
APN |
2 |
111,136,966 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01355:Or4g16
|
APN |
2 |
111,137,438 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01864:Or4g16
|
APN |
2 |
111,137,400 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02160:Or4g16
|
APN |
2 |
111,137,143 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02183:Or4g16
|
APN |
2 |
111,136,763 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4377001:Or4g16
|
UTSW |
2 |
111,137,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R0280:Or4g16
|
UTSW |
2 |
111,137,417 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0636:Or4g16
|
UTSW |
2 |
111,136,757 (GRCm39) |
missense |
probably benign |
0.06 |
R0732:Or4g16
|
UTSW |
2 |
111,137,325 (GRCm39) |
nonsense |
probably null |
|
R1661:Or4g16
|
UTSW |
2 |
111,137,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1665:Or4g16
|
UTSW |
2 |
111,137,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R2251:Or4g16
|
UTSW |
2 |
111,136,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R2252:Or4g16
|
UTSW |
2 |
111,136,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R2253:Or4g16
|
UTSW |
2 |
111,136,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R2473:Or4g16
|
UTSW |
2 |
111,137,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R3408:Or4g16
|
UTSW |
2 |
111,136,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R5020:Or4g16
|
UTSW |
2 |
111,136,637 (GRCm39) |
missense |
probably benign |
0.01 |
R5634:Or4g16
|
UTSW |
2 |
111,137,437 (GRCm39) |
missense |
probably benign |
|
R6782:Or4g16
|
UTSW |
2 |
111,137,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R6911:Or4g16
|
UTSW |
2 |
111,136,618 (GRCm39) |
missense |
probably benign |
0.00 |
R7135:Or4g16
|
UTSW |
2 |
111,137,365 (GRCm39) |
missense |
probably benign |
0.05 |
R7167:Or4g16
|
UTSW |
2 |
111,136,793 (GRCm39) |
missense |
probably benign |
0.10 |
R7452:Or4g16
|
UTSW |
2 |
111,137,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R7563:Or4g16
|
UTSW |
2 |
111,137,134 (GRCm39) |
missense |
probably benign |
0.00 |
R7582:Or4g16
|
UTSW |
2 |
111,136,793 (GRCm39) |
missense |
probably damaging |
0.97 |
R8949:Or4g16
|
UTSW |
2 |
111,137,379 (GRCm39) |
missense |
probably damaging |
1.00 |
X0021:Or4g16
|
UTSW |
2 |
111,136,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGGCAAAGGTCTTCAGGG -3'
(R):5'- TTTCTCAAGGGAACAAAATCAAGGC -3'
Sequencing Primer
(F):5'- CTTCAGGGGACTTGTCAAAGGC -3'
(R):5'- TGGCAAGGTTATATAGAATGTGTCTC -3'
|
Posted On |
2016-11-08 |