Incidental Mutation 'R3108:Or52s1b'
| ID |
263665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52s1b
|
| Ensembl Gene |
ENSMUSG00000057461 |
| Gene Name |
olfactory receptor family 52 subfamily S member 1B |
| Synonyms |
MOR24-1P, GA_x6K02T2PBJ9-5889409-5888465, Olfr591 |
| MMRRC Submission |
040582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R3108 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102821898-102822842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102822293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 184
(M184L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074272]
[ENSMUST00000216581]
|
| AlphaFold |
Q7TRR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074272
AA Change: M184L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073884
Gene: ENSMUSG00000057461
AA Change: M184L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
9.4e-105 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
255 |
7.1e-8 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
6.9e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216581
AA Change: M184L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218115
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| 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 |
|---|
| Abhd2 |
C |
T |
7: 78,973,333 (GRCm39) |
S104L |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,119,453 (GRCm39) |
Y1032C |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,898,226 (GRCm39) |
|
probably null |
Het |
| Ccnb1 |
C |
T |
13: 100,918,132 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,462,377 (GRCm39) |
V1691A |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,819,669 (GRCm39) |
K1760R |
probably benign |
Het |
| Drd4 |
T |
A |
7: 140,872,195 (GRCm39) |
V82E |
possibly damaging |
Het |
| Dtx2 |
G |
A |
5: 136,050,670 (GRCm39) |
V323M |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,498,210 (GRCm39) |
|
probably null |
Het |
| Igkv11-125 |
T |
C |
6: 67,890,855 (GRCm39) |
F58L |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,076 (GRCm39) |
S279P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,412,496 (GRCm39) |
T1814M |
unknown |
Het |
| Nkpd1 |
G |
A |
7: 19,256,903 (GRCm39) |
M227I |
probably damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,110,263 (GRCm39) |
V324M |
probably benign |
Het |
| Nup155 |
C |
A |
15: 8,146,790 (GRCm39) |
T210K |
probably null |
Het |
| Or9s18 |
T |
C |
13: 65,300,875 (GRCm39) |
V279A |
possibly damaging |
Het |
| Pak4 |
A |
T |
7: 28,263,769 (GRCm39) |
Y322* |
probably null |
Het |
| Raph1 |
G |
A |
1: 60,532,545 (GRCm39) |
A696V |
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
| Serpina1a |
A |
T |
12: 103,820,100 (GRCm39) |
I382N |
probably damaging |
Het |
| Slc34a3 |
G |
T |
2: 25,119,257 (GRCm39) |
Q538K |
probably benign |
Het |
| Slf1 |
C |
T |
13: 77,274,840 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
G |
T |
17: 88,943,583 (GRCm39) |
E330* |
probably null |
Het |
| Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
| Unc45a |
A |
G |
7: 79,981,294 (GRCm39) |
|
probably benign |
Het |
| Zfp169 |
A |
G |
13: 48,643,472 (GRCm39) |
S552P |
possibly damaging |
Het |
| Zfp229 |
T |
A |
17: 21,965,797 (GRCm39) |
C676S |
probably damaging |
Het |
|
| Other mutations in Or52s1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02408:Or52s1b
|
APN |
7 |
102,822,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03307:Or52s1b
|
APN |
7 |
102,822,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
G1Funyon:Or52s1b
|
UTSW |
7 |
102,822,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0082:Or52s1b
|
UTSW |
7 |
102,822,409 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0389:Or52s1b
|
UTSW |
7 |
102,822,490 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0843:Or52s1b
|
UTSW |
7 |
102,822,326 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1378:Or52s1b
|
UTSW |
7 |
102,822,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Or52s1b
|
UTSW |
7 |
102,822,574 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1521:Or52s1b
|
UTSW |
7 |
102,822,658 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1538:Or52s1b
|
UTSW |
7 |
102,822,193 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3109:Or52s1b
|
UTSW |
7 |
102,822,293 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5350:Or52s1b
|
UTSW |
7 |
102,822,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5488:Or52s1b
|
UTSW |
7 |
102,822,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5489:Or52s1b
|
UTSW |
7 |
102,822,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5598:Or52s1b
|
UTSW |
7 |
102,822,841 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5607:Or52s1b
|
UTSW |
7 |
102,822,056 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5608:Or52s1b
|
UTSW |
7 |
102,822,056 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6974:Or52s1b
|
UTSW |
7 |
102,822,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6994:Or52s1b
|
UTSW |
7 |
102,822,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Or52s1b
|
UTSW |
7 |
102,822,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7966:Or52s1b
|
UTSW |
7 |
102,822,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7980:Or52s1b
|
UTSW |
7 |
102,822,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8301:Or52s1b
|
UTSW |
7 |
102,822,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8831:Or52s1b
|
UTSW |
7 |
102,822,203 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Or52s1b
|
UTSW |
7 |
102,822,013 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGTCTTGAGTCTGGCATCC -3'
(R):5'- CTCTTGCTCAACCATGGAGTC -3'
Sequencing Primer
(F):5'- GAGTCTGGCATCCTTGGAAG -3'
(R):5'- AACCATGGAGTCTGGTTTCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation