Incidental Mutation 'R6715:Or52b2'
| ID |
529289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52b2
|
| Ensembl Gene |
ENSMUSG00000043948 |
| Gene Name |
olfactory receptor family 52 subfamily B member 2 |
| Synonyms |
MOR31-6, Olfr691, GA_x6K02T2PBJ9-7966695-7965727 |
| MMRRC Submission |
044833-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R6715 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104985953-104986921 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104986539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 128
(I128N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057528]
[ENSMUST00000211006]
[ENSMUST00000213290]
[ENSMUST00000216230]
|
| AlphaFold |
Q8VGW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057528
AA Change: I128N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061078
Gene: ENSMUSG00000043948
AA Change: I128N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
1e-112 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
291 |
1.3e-10 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
3.7e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211006
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213290
AA Change: I128N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216230
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
G |
A |
12: 88,425,850 (GRCm39) |
R426H |
probably damaging |
Het |
| Arl2 |
G |
A |
19: 6,187,555 (GRCm39) |
R98C |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,442,948 (GRCm39) |
I105T |
probably damaging |
Het |
| Cnnm2 |
G |
A |
19: 46,842,412 (GRCm39) |
G565E |
probably damaging |
Het |
| Ddx60 |
G |
A |
8: 62,436,924 (GRCm39) |
G958D |
probably benign |
Het |
| Fbxo2 |
T |
A |
4: 148,250,226 (GRCm39) |
M252K |
probably benign |
Het |
| Filip1 |
C |
A |
9: 79,726,040 (GRCm39) |
A860S |
probably benign |
Het |
| Gm11992 |
C |
A |
11: 9,011,214 (GRCm39) |
S218R |
probably damaging |
Het |
| Gnb3 |
A |
G |
6: 124,814,691 (GRCm39) |
L69P |
possibly damaging |
Het |
| Gpr18 |
T |
G |
14: 122,149,389 (GRCm39) |
H212P |
possibly damaging |
Het |
| Iqcb1 |
T |
C |
16: 36,655,991 (GRCm39) |
F126S |
probably damaging |
Het |
| Katnip |
C |
T |
7: 125,361,001 (GRCm39) |
Q104* |
probably null |
Het |
| Kcnh1 |
A |
G |
1: 192,019,949 (GRCm39) |
D425G |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,536,799 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
C |
T |
10: 76,325,366 (GRCm39) |
T989M |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,623,004 (GRCm39) |
C1999R |
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Myof |
A |
T |
19: 37,956,794 (GRCm39) |
D508E |
probably benign |
Het |
| Or56b2j |
G |
A |
7: 104,353,163 (GRCm39) |
V130M |
possibly damaging |
Het |
| Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
| Osbpl7 |
A |
G |
11: 96,945,425 (GRCm39) |
H266R |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,666,424 (GRCm39) |
Y93C |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,965,000 (GRCm39) |
H881R |
possibly damaging |
Het |
| Rfx1 |
A |
G |
8: 84,822,444 (GRCm39) |
E914G |
possibly damaging |
Het |
| Samm50 |
T |
C |
15: 84,095,259 (GRCm39) |
I415T |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,575,985 (GRCm39) |
D434G |
possibly damaging |
Het |
| Susd4 |
G |
A |
1: 182,719,602 (GRCm39) |
V406M |
probably benign |
Het |
| Syt15 |
G |
T |
14: 33,944,819 (GRCm39) |
G122V |
probably damaging |
Het |
| Tlr5 |
A |
G |
1: 182,800,224 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,721,556 (GRCm39) |
|
probably null |
Het |
| Vmn1r211 |
C |
A |
13: 23,035,949 (GRCm39) |
M239I |
probably benign |
Het |
| Vps37a |
G |
T |
8: 40,993,902 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or52b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02212:Or52b2
|
APN |
7 |
104,986,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0178:Or52b2
|
UTSW |
7 |
104,986,129 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0344:Or52b2
|
UTSW |
7 |
104,986,814 (GRCm39) |
missense |
probably benign |
|
|
R0931:Or52b2
|
UTSW |
7 |
104,986,736 (GRCm39) |
nonsense |
probably null |
|
|
R1434:Or52b2
|
UTSW |
7 |
104,986,468 (GRCm39) |
missense |
probably benign |
|
|
R1482:Or52b2
|
UTSW |
7 |
104,986,463 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2189:Or52b2
|
UTSW |
7 |
104,986,809 (GRCm39) |
missense |
probably benign |
|
|
R3836:Or52b2
|
UTSW |
7 |
104,986,417 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5353:Or52b2
|
UTSW |
7 |
104,986,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6649:Or52b2
|
UTSW |
7 |
104,986,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7462:Or52b2
|
UTSW |
7 |
104,986,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8822:Or52b2
|
UTSW |
7 |
104,986,809 (GRCm39) |
missense |
probably benign |
|
|
R9286:Or52b2
|
UTSW |
7 |
104,985,971 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9616:Or52b2
|
UTSW |
7 |
104,986,520 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCAATGTGCTCACAGTAG -3'
(R):5'- TCACAGAACGGAACCTTCATG -3'
Sequencing Primer
(F):5'- CCCAATGTGCTCACAGTAGGAATG -3'
(R):5'- TCCATGTTGGCCATCACGG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation