Incidental Mutation 'R5483:Or11l3'
| ID |
434437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or11l3
|
| Ensembl Gene |
ENSMUSG00000043880 |
| Gene Name |
olfactory receptor family 11 subfamily L member 3 |
| Synonyms |
MOR107-1, Olfr323, GA_x6K02T2NKPP-794386-795357 |
| MMRRC Submission |
043044-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5483 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
58515899-58516870 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58516783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 30
(I30F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070804]
[ENSMUST00000203173]
[ENSMUST00000214132]
|
| AlphaFold |
Q5NCD0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070804
AA Change: I30F
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000068147
Gene: ENSMUSG00000043880
AA Change: I30F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.4e-54 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3.7e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203173
AA Change: I29F
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145459
Gene: ENSMUSG00000043880
AA Change: I29F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214132
AA Change: I30F
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.5%
- 10x: 94.8%
- 20x: 89.2%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap206 |
G |
T |
4: 34,711,404 (GRCm39) |
Q498K |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,949,615 (GRCm39) |
Y524C |
probably damaging |
Het |
| Dnttip2 |
A |
T |
3: 122,070,446 (GRCm39) |
T554S |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,102,687 (GRCm39) |
T949A |
probably damaging |
Het |
| Enkur |
A |
T |
2: 21,199,109 (GRCm39) |
F142I |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,002 (GRCm39) |
A362T |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,413,795 (GRCm39) |
H124R |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,788,290 (GRCm39) |
I1011N |
possibly damaging |
Het |
| Ipo5 |
T |
A |
14: 121,157,450 (GRCm39) |
I96N |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,663,929 (GRCm39) |
I353V |
probably benign |
Het |
| Klf11 |
T |
A |
12: 24,705,410 (GRCm39) |
L288* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,735,921 (GRCm39) |
|
probably benign |
Het |
| Lmbrd1 |
T |
C |
1: 24,783,989 (GRCm39) |
Y373H |
probably damaging |
Het |
| Mlh1 |
G |
A |
9: 111,060,126 (GRCm39) |
A584V |
possibly damaging |
Het |
| Ociad1 |
T |
C |
5: 73,452,314 (GRCm39) |
F35S |
probably damaging |
Het |
| Or6c208 |
T |
C |
10: 129,223,526 (GRCm39) |
I8T |
probably benign |
Het |
| Or8u3-ps |
C |
T |
2: 85,952,962 (GRCm39) |
Q232* |
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,851,141 (GRCm39) |
|
probably null |
Het |
| Pole |
T |
A |
5: 110,442,434 (GRCm39) |
D287E |
probably damaging |
Het |
| Polh |
G |
T |
17: 46,483,671 (GRCm39) |
S531R |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,177 (GRCm39) |
K207R |
probably benign |
Het |
| Rasgrp3 |
T |
G |
17: 75,832,013 (GRCm39) |
S611R |
probably damaging |
Het |
| Rffl |
G |
T |
11: 82,703,549 (GRCm39) |
|
probably null |
Het |
| Scrib |
A |
G |
15: 75,939,508 (GRCm39) |
|
probably null |
Het |
| Serpinb3a |
T |
A |
1: 106,974,899 (GRCm39) |
K211N |
probably benign |
Het |
| Slc22a3 |
C |
T |
17: 12,683,354 (GRCm39) |
A170T |
probably damaging |
Het |
| Socs5 |
T |
G |
17: 87,442,402 (GRCm39) |
F447L |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 24,040,246 (GRCm39) |
S2393T |
probably damaging |
Het |
| Usp7 |
T |
A |
16: 8,516,404 (GRCm39) |
Y585F |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,153,564 (GRCm39) |
I670N |
probably benign |
Het |
|
| Other mutations in Or11l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02995:Or11l3
|
APN |
11 |
58,516,107 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03118:Or11l3
|
APN |
11 |
58,516,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0058:Or11l3
|
UTSW |
11 |
58,516,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0335:Or11l3
|
UTSW |
11 |
58,516,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1127:Or11l3
|
UTSW |
11 |
58,516,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2029:Or11l3
|
UTSW |
11 |
58,516,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2434:Or11l3
|
UTSW |
11 |
58,515,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6423:Or11l3
|
UTSW |
11 |
58,516,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6990:Or11l3
|
UTSW |
11 |
58,516,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7472:Or11l3
|
UTSW |
11 |
58,516,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7539:Or11l3
|
UTSW |
11 |
58,516,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7635:Or11l3
|
UTSW |
11 |
58,515,990 (GRCm39) |
missense |
unknown |
|
|
R7647:Or11l3
|
UTSW |
11 |
58,516,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Or11l3
|
UTSW |
11 |
58,516,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8869:Or11l3
|
UTSW |
11 |
58,515,994 (GRCm39) |
missense |
unknown |
|
|
R9180:Or11l3
|
UTSW |
11 |
58,516,062 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9262:Or11l3
|
UTSW |
11 |
58,516,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9788:Or11l3
|
UTSW |
11 |
58,516,692 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1186:Or11l3
|
UTSW |
11 |
58,516,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Or11l3
|
UTSW |
11 |
58,516,619 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or11l3
|
UTSW |
11 |
58,516,732 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1186:Or11l3
|
UTSW |
11 |
58,516,130 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1186:Or11l3
|
UTSW |
11 |
58,516,075 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1187:Or11l3
|
UTSW |
11 |
58,516,619 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or11l3
|
UTSW |
11 |
58,516,732 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1187:Or11l3
|
UTSW |
11 |
58,516,075 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1187:Or11l3
|
UTSW |
11 |
58,516,130 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1187:Or11l3
|
UTSW |
11 |
58,516,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Or11l3
|
UTSW |
11 |
58,516,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Or11l3
|
UTSW |
11 |
58,516,130 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1188:Or11l3
|
UTSW |
11 |
58,516,075 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1188:Or11l3
|
UTSW |
11 |
58,516,732 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1188:Or11l3
|
UTSW |
11 |
58,516,619 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or11l3
|
UTSW |
11 |
58,516,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Or11l3
|
UTSW |
11 |
58,516,130 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1189:Or11l3
|
UTSW |
11 |
58,516,075 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1189:Or11l3
|
UTSW |
11 |
58,516,732 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1189:Or11l3
|
UTSW |
11 |
58,516,619 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or11l3
|
UTSW |
11 |
58,516,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Or11l3
|
UTSW |
11 |
58,516,130 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1190:Or11l3
|
UTSW |
11 |
58,516,075 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1190:Or11l3
|
UTSW |
11 |
58,516,732 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1190:Or11l3
|
UTSW |
11 |
58,516,619 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or11l3
|
UTSW |
11 |
58,516,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Or11l3
|
UTSW |
11 |
58,516,130 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1191:Or11l3
|
UTSW |
11 |
58,516,075 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1191:Or11l3
|
UTSW |
11 |
58,516,732 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1191:Or11l3
|
UTSW |
11 |
58,516,619 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or11l3
|
UTSW |
11 |
58,516,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Or11l3
|
UTSW |
11 |
58,516,130 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1192:Or11l3
|
UTSW |
11 |
58,516,075 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1192:Or11l3
|
UTSW |
11 |
58,516,732 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1192:Or11l3
|
UTSW |
11 |
58,516,619 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGTACAGCTGGGCCATG -3'
(R):5'- CAAACTACTGGAGGACCGAC -3'
Sequencing Primer
(F):5'- ACAGCATGTGTCCCCAGGAG -3'
(R):5'- TACTGGAGGACCGACCCTTAGAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation