Incidental Mutation 'R2438:Or5b105'
| ID |
249716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b105
|
| Ensembl Gene |
ENSMUSG00000062844 |
| Gene Name |
olfactory receptor family 5 subfamily B member 105 |
| Synonyms |
GA_x6K02T2RE5P-3430689-3429787, Olfr1458, MOR202-24, EG667271 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R2438 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
13079743-13080669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13079785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 294
(D294E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076729]
[ENSMUST00000207340]
[ENSMUST00000208913]
[ENSMUST00000214561]
[ENSMUST00000215160]
[ENSMUST00000215229]
|
| AlphaFold |
A0A1L1SSD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076729
AA Change: D288E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000076019
Gene: ENSMUSG00000062844
AA Change: D288E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
23 |
300 |
7.9e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
27 |
297 |
1.2e-6 |
PFAM |
|
Pfam:7tm_1
|
33 |
282 |
5.8e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207340
AA Change: D294E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214561
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215160
AA Change: D294E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215229
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
| 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, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,936,133 (GRCm39) |
V318A |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cd8b1 |
A |
G |
6: 71,306,740 (GRCm39) |
K156E |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,425,753 (GRCm39) |
M1262T |
possibly damaging |
Het |
| Crebbp |
A |
G |
16: 3,972,722 (GRCm39) |
M324T |
possibly damaging |
Het |
| Cwf19l1 |
G |
A |
19: 44,099,002 (GRCm39) |
R523C |
probably benign |
Het |
| Defb21 |
A |
T |
2: 152,416,695 (GRCm39) |
Y57F |
possibly damaging |
Het |
| Ebf2 |
T |
A |
14: 67,625,391 (GRCm39) |
V233D |
probably damaging |
Het |
| Gfpt1 |
A |
T |
6: 87,034,727 (GRCm39) |
E175V |
probably null |
Het |
| Gga1 |
T |
C |
15: 78,769,498 (GRCm39) |
F157S |
probably damaging |
Het |
| Impdh2 |
A |
T |
9: 108,437,815 (GRCm39) |
D28V |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
| Krt5 |
T |
C |
15: 101,620,093 (GRCm39) |
N208S |
probably benign |
Het |
| Matcap2 |
T |
C |
9: 22,342,979 (GRCm39) |
V291A |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,373,878 (GRCm39) |
I1242F |
probably damaging |
Het |
| Myo1g |
A |
T |
11: 6,461,542 (GRCm39) |
N636K |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,929 (GRCm39) |
|
probably null |
Het |
| Nrros |
C |
T |
16: 31,963,117 (GRCm39) |
G264D |
probably benign |
Het |
| Nsun4 |
A |
G |
4: 115,905,794 (GRCm39) |
V54A |
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,495,096 (GRCm39) |
D175V |
probably damaging |
Het |
| Pilrb2 |
T |
A |
5: 137,869,175 (GRCm39) |
I142L |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,816,734 (GRCm39) |
S596P |
probably damaging |
Het |
| Sema5a |
G |
T |
15: 32,550,399 (GRCm39) |
S146I |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc43a2 |
A |
T |
11: 75,453,957 (GRCm39) |
E290V |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Zfp456 |
A |
T |
13: 67,515,073 (GRCm39) |
I211N |
probably damaging |
Het |
|
| Other mutations in Or5b105 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01684:Or5b105
|
APN |
19 |
13,080,353 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02319:Or5b105
|
APN |
19 |
13,080,026 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02926:Or5b105
|
APN |
19 |
13,080,187 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03107:Or5b105
|
APN |
19 |
13,080,401 (GRCm39) |
missense |
probably benign |
|
|
IGL03304:Or5b105
|
APN |
19 |
13,080,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0049:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0099:Or5b105
|
UTSW |
19 |
13,080,504 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0103:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0144:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0189:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0206:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0207:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0208:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0212:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0344:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0426:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0506:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0507:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0607:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0661:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0734:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1347:Or5b105
|
UTSW |
19 |
13,080,054 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1347:Or5b105
|
UTSW |
19 |
13,080,054 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1443:Or5b105
|
UTSW |
19 |
13,080,568 (GRCm39) |
nonsense |
probably null |
|
|
R1446:Or5b105
|
UTSW |
19 |
13,080,380 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1567:Or5b105
|
UTSW |
19 |
13,080,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2190:Or5b105
|
UTSW |
19 |
13,079,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4020:Or5b105
|
UTSW |
19 |
13,079,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4406:Or5b105
|
UTSW |
19 |
13,079,958 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4631:Or5b105
|
UTSW |
19 |
13,080,636 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4847:Or5b105
|
UTSW |
19 |
13,079,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4979:Or5b105
|
UTSW |
19 |
13,080,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6086:Or5b105
|
UTSW |
19 |
13,079,745 (GRCm39) |
makesense |
probably null |
|
|
R6480:Or5b105
|
UTSW |
19 |
13,079,838 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6484:Or5b105
|
UTSW |
19 |
13,080,431 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6786:Or5b105
|
UTSW |
19 |
13,080,567 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7121:Or5b105
|
UTSW |
19 |
13,080,537 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7547:Or5b105
|
UTSW |
19 |
13,080,407 (GRCm39) |
missense |
not run |
|
|
R7822:Or5b105
|
UTSW |
19 |
13,080,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7949:Or5b105
|
UTSW |
19 |
13,080,610 (GRCm39) |
splice site |
probably null |
|
|
R8219:Or5b105
|
UTSW |
19 |
13,080,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8441:Or5b105
|
UTSW |
19 |
13,080,020 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8458:Or5b105
|
UTSW |
19 |
13,079,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9283:Or5b105
|
UTSW |
19 |
13,079,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9330:Or5b105
|
UTSW |
19 |
13,080,588 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9592:Or5b105
|
UTSW |
19 |
13,079,906 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9677:Or5b105
|
UTSW |
19 |
13,080,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9725:Or5b105
|
UTSW |
19 |
13,080,272 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
X0024:Or5b105
|
UTSW |
19 |
13,080,573 (GRCm39) |
missense |
probably benign |
0.22 |
|
X0027:Or5b105
|
UTSW |
19 |
13,080,588 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAAGCTGACACATTATTCCAGAG -3'
(R):5'- AGATGCATTCCAATTCAGGATATCGC -3'
Sequencing Primer
(F):5'- TTATTCCAGAGGAGAAGACATCAC -3'
(R):5'- TTCAGGATATCGCAAAGCTCTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation