Incidental Mutation 'R2380:Or5l13'
| ID |
248411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5l13
|
| Ensembl Gene |
ENSMUSG00000075144 |
| Gene Name |
olfactory receptor family 5 subfamily L member 13 |
| Synonyms |
Olfr1156, GA_x6K02T2Q125-49433499-49432537, MOR174-3 |
| MMRRC Submission |
040356-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R2380 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87779534-87780609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87779741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 279
(T279A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099842]
[ENSMUST00000215903]
[ENSMUST00000216191]
[ENSMUST00000216726]
|
| AlphaFold |
A2AVC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099842
AA Change: T279A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097430
Gene: ENSMUSG00000075144
AA Change: T279A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.2e-47 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215903
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216191
AA Change: T279A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216726
AA Change: T279A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4112 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,949,036 (GRCm39) |
S978P |
possibly damaging |
Het |
| Ago3 |
G |
A |
4: 126,262,315 (GRCm39) |
R412C |
probably damaging |
Het |
| Ampd3 |
C |
T |
7: 110,399,917 (GRCm39) |
T344M |
probably damaging |
Het |
| Arl10 |
G |
T |
13: 54,722,962 (GRCm39) |
V19L |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,407,086 (GRCm39) |
A1991V |
probably damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,193,221 (GRCm39) |
D655E |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,196,878 (GRCm39) |
H1169R |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,023,586 (GRCm39) |
F942L |
probably damaging |
Het |
| Camk2g |
A |
G |
14: 20,789,455 (GRCm39) |
I205T |
probably damaging |
Het |
| Cdh5 |
C |
A |
8: 104,852,304 (GRCm39) |
H140N |
possibly damaging |
Het |
| Cog8 |
C |
A |
8: 107,782,993 (GRCm39) |
G99W |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,240,101 (GRCm39) |
C1104R |
probably damaging |
Het |
| Dhrs7c |
G |
A |
11: 67,706,690 (GRCm39) |
V283M |
probably benign |
Het |
| Emilin2 |
T |
A |
17: 71,617,219 (GRCm39) |
Q64L |
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,652,770 (GRCm39) |
E729G |
probably benign |
Het |
| Fam169a |
T |
A |
13: 97,255,043 (GRCm39) |
|
probably benign |
Het |
| Gvin-ps3 |
T |
C |
7: 105,681,374 (GRCm39) |
E627G |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,441,135 (GRCm39) |
M5374L |
probably benign |
Het |
| Hsd17b1 |
A |
T |
11: 100,969,289 (GRCm39) |
I8F |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,036,395 (GRCm39) |
E1111G |
probably benign |
Het |
| Kcmf1 |
A |
G |
6: 72,835,755 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
T |
A |
13: 47,227,231 (GRCm39) |
F574L |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,842,738 (GRCm39) |
Y908H |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,037,722 (GRCm39) |
|
probably benign |
Het |
| Ltbp3 |
C |
A |
19: 5,801,551 (GRCm39) |
C698* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,113,144 (GRCm39) |
V1216A |
possibly damaging |
Het |
| Or52e3 |
A |
T |
7: 102,869,815 (GRCm39) |
T297S |
possibly damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,085 (GRCm39) |
V157A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,740,040 (GRCm39) |
Y434H |
probably damaging |
Het |
| Pwwp2b |
A |
G |
7: 138,835,366 (GRCm39) |
E269G |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,544,124 (GRCm39) |
T299S |
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,403,733 (GRCm39) |
T1163I |
unknown |
Het |
| Slc35f4 |
A |
G |
14: 49,543,660 (GRCm39) |
|
probably null |
Het |
| Smr2l |
T |
G |
5: 88,430,413 (GRCm39) |
M103R |
probably benign |
Het |
| Trmt5 |
A |
G |
12: 73,331,888 (GRCm39) |
I4T |
probably benign |
Het |
| Ttc7b |
A |
G |
12: 100,321,260 (GRCm39) |
|
probably null |
Het |
| Utp6 |
A |
G |
11: 79,826,831 (GRCm39) |
S582P |
possibly damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,351,552 (GRCm39) |
S222P |
probably damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
Het |
|
| Other mutations in Or5l13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:Or5l13
|
APN |
2 |
87,780,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02831:Or5l13
|
APN |
2 |
87,780,020 (GRCm39) |
splice site |
probably null |
|
|
IGL03214:Or5l13
|
APN |
2 |
87,780,415 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0285:Or5l13
|
UTSW |
2 |
87,780,475 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0926:Or5l13
|
UTSW |
2 |
87,780,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0987:Or5l13
|
UTSW |
2 |
87,779,891 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1422:Or5l13
|
UTSW |
2 |
87,780,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1958:Or5l13
|
UTSW |
2 |
87,779,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Or5l13
|
UTSW |
2 |
87,779,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3872:Or5l13
|
UTSW |
2 |
87,779,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3873:Or5l13
|
UTSW |
2 |
87,779,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Or5l13
|
UTSW |
2 |
87,779,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4526:Or5l13
|
UTSW |
2 |
87,779,753 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5116:Or5l13
|
UTSW |
2 |
87,779,873 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5985:Or5l13
|
UTSW |
2 |
87,779,665 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5999:Or5l13
|
UTSW |
2 |
87,780,145 (GRCm39) |
splice site |
probably null |
|
|
R6127:Or5l13
|
UTSW |
2 |
87,779,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Or5l13
|
UTSW |
2 |
87,779,779 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6544:Or5l13
|
UTSW |
2 |
87,780,335 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6556:Or5l13
|
UTSW |
2 |
87,780,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6715:Or5l13
|
UTSW |
2 |
87,780,335 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6951:Or5l13
|
UTSW |
2 |
87,780,323 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7062:Or5l13
|
UTSW |
2 |
87,780,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7142:Or5l13
|
UTSW |
2 |
87,780,056 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7749:Or5l13
|
UTSW |
2 |
87,779,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Or5l13
|
UTSW |
2 |
87,780,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8222:Or5l13
|
UTSW |
2 |
87,779,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9594:Or5l13
|
UTSW |
2 |
87,780,544 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCACACAGAGAACATGC -3'
(R):5'- GTTTATCCTCATCACCATCCTGAAG -3'
Sequencing Primer
(F):5'- GAAATAGCCATCCTTTTCAATGCTC -3'
(R):5'- ATCCTGAAGATGCGCTCTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation