Incidental Mutation 'R5967:Or5k1b'
| ID |
470677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5k1b
|
| Ensembl Gene |
ENSMUSG00000071510 |
| Gene Name |
olfactory receptor family 5 subfamily K member 1B |
| Synonyms |
GA_x54KRFPKG5P-54930346-54929417, MOR184-2, Olfr172 |
| MMRRC Submission |
043248-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
58580515-58581603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 58580725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 271
(D271E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095991]
[ENSMUST00000214139]
|
| AlphaFold |
E9Q8F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095991
AA Change: D271E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093690
Gene: ENSMUSG00000071510
AA Change: D271E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
3.9e-52 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214139
AA Change: D271E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
A |
3: 116,587,357 (GRCm39) |
D66V |
probably benign |
Het |
| Agrn |
G |
A |
4: 156,259,560 (GRCm39) |
P792S |
probably damaging |
Het |
| Angptl2 |
A |
G |
2: 33,118,718 (GRCm39) |
N164S |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,967,434 (GRCm39) |
F4112L |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,650,530 (GRCm39) |
E446G |
possibly damaging |
Het |
| Ceacam1 |
C |
T |
7: 25,174,167 (GRCm39) |
V163I |
probably damaging |
Het |
| Cngb1 |
T |
C |
8: 95,978,534 (GRCm39) |
K1068R |
probably damaging |
Het |
| Gna11 |
A |
G |
10: 81,366,643 (GRCm39) |
Y356H |
probably benign |
Het |
| Gnl2 |
A |
G |
4: 124,934,823 (GRCm39) |
M160V |
probably benign |
Het |
| Gpsm1 |
A |
G |
2: 26,230,546 (GRCm39) |
|
probably null |
Het |
| Grep1 |
C |
A |
17: 23,931,332 (GRCm39) |
G192W |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Kif20a |
G |
T |
18: 34,763,580 (GRCm39) |
R609L |
probably benign |
Het |
| Meis2 |
G |
A |
2: 115,694,790 (GRCm39) |
T444I |
probably benign |
Het |
| Muc17 |
T |
A |
5: 137,175,485 (GRCm39) |
I62L |
probably benign |
Het |
| Myorg |
G |
A |
4: 41,497,830 (GRCm39) |
A600V |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,146,048 (GRCm39) |
D526N |
unknown |
Het |
| Nodal |
G |
T |
10: 61,259,446 (GRCm39) |
E294D |
probably damaging |
Het |
| Nup214 |
T |
C |
2: 31,869,790 (GRCm39) |
V161A |
possibly damaging |
Het |
| Or10a48 |
C |
T |
7: 108,424,921 (GRCm39) |
G95D |
probably benign |
Het |
| Or5m11b |
G |
A |
2: 85,806,535 (GRCm39) |
R316H |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,669 (GRCm39) |
T990S |
unknown |
Het |
| Piwil2 |
A |
T |
14: 70,628,013 (GRCm39) |
M752K |
probably benign |
Het |
| Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,411,333 (GRCm39) |
M805K |
probably damaging |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Ralbp1 |
A |
G |
17: 66,171,274 (GRCm39) |
V233A |
probably benign |
Het |
| Scin |
C |
T |
12: 40,127,537 (GRCm39) |
E418K |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,506,057 (GRCm39) |
I1611F |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,142,506 (GRCm39) |
H42L |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,537,375 (GRCm39) |
V4259D |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,403,039 (GRCm39) |
Y528F |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,675,168 (GRCm39) |
E107G |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,948,572 (GRCm39) |
T463A |
probably benign |
Het |
|
| Other mutations in Or5k1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03006:Or5k1b
|
APN |
16 |
58,581,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1210:Or5k1b
|
UTSW |
16 |
58,581,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Or5k1b
|
UTSW |
16 |
58,581,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Or5k1b
|
UTSW |
16 |
58,581,504 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4730:Or5k1b
|
UTSW |
16 |
58,581,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4784:Or5k1b
|
UTSW |
16 |
58,580,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Or5k1b
|
UTSW |
16 |
58,580,982 (GRCm39) |
nonsense |
probably null |
|
|
R5213:Or5k1b
|
UTSW |
16 |
58,580,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7022:Or5k1b
|
UTSW |
16 |
58,581,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7259:Or5k1b
|
UTSW |
16 |
58,580,868 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7745:Or5k1b
|
UTSW |
16 |
58,580,782 (GRCm39) |
nonsense |
probably null |
|
|
R7983:Or5k1b
|
UTSW |
16 |
58,581,377 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8123:Or5k1b
|
UTSW |
16 |
58,581,537 (GRCm39) |
start codon destroyed |
possibly damaging |
0.91 |
|
R8189:Or5k1b
|
UTSW |
16 |
58,581,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9245:Or5k1b
|
UTSW |
16 |
58,581,126 (GRCm39) |
nonsense |
probably null |
|
|
R9464:Or5k1b
|
UTSW |
16 |
58,581,202 (GRCm39) |
nonsense |
probably null |
|
|
R9686:Or5k1b
|
UTSW |
16 |
58,581,126 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATTTCCCCTGTGTAATTTCATG -3'
(R):5'- CAGCCCCAATCCAAGTTTTC -3'
Sequencing Primer
(F):5'- CCCCTGTGTAATTTCATGTGAAG -3'
(R):5'- CCAATCCAAGTTTTCACAATAGGTTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation