Incidental Mutation 'R5143:Or52b1'
| ID |
396525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52b1
|
| Ensembl Gene |
ENSMUSG00000050266 |
| Gene Name |
olfactory receptor family 52 subfamily B member 1 |
| Synonyms |
Olfr690, GA_x6K02T2PBJ9-7959171-7958224, MOR31-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5143 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
104978424-104979485 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104978731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 223
(I223F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061920]
[ENSMUST00000211006]
[ENSMUST00000216230]
|
| AlphaFold |
Q8VH18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061920
AA Change: I223F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061272
Gene: ENSMUSG00000050266
AA Change: I223F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
19 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
33 |
312 |
2e-110 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
264 |
1.4e-9 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
1.7e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209868
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211006
AA Change: I223F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216230
AA Change: I223F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,887,064 (GRCm39) |
|
probably null |
Het |
| Abcc2 |
T |
C |
19: 43,810,100 (GRCm39) |
I886T |
probably benign |
Het |
| Adrb2 |
T |
C |
18: 62,311,847 (GRCm39) |
Y326C |
probably damaging |
Het |
| Aplp1 |
G |
A |
7: 30,140,548 (GRCm39) |
R334C |
probably damaging |
Het |
| AY358078 |
T |
C |
14: 52,040,006 (GRCm39) |
S39P |
unknown |
Het |
| Bpifb2 |
A |
T |
2: 153,720,424 (GRCm39) |
D61V |
probably damaging |
Het |
| Caap1 |
A |
T |
4: 94,389,619 (GRCm39) |
N238K |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,865,020 (GRCm39) |
V726A |
possibly damaging |
Het |
| Chrna7 |
T |
C |
7: 62,755,895 (GRCm39) |
Y217C |
probably damaging |
Het |
| Crocc |
T |
A |
4: 140,768,350 (GRCm39) |
T414S |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,158,744 (GRCm39) |
F620I |
possibly damaging |
Het |
| Eogt |
A |
G |
6: 97,102,545 (GRCm39) |
L256P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,039,397 (GRCm39) |
I2002M |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,922,493 (GRCm39) |
|
probably null |
Het |
| Fut8 |
A |
G |
12: 77,411,983 (GRCm39) |
D111G |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,719,051 (GRCm39) |
A319V |
probably benign |
Het |
| Hoxd3 |
C |
T |
2: 74,576,716 (GRCm39) |
R39C |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Pate8 |
T |
A |
9: 36,493,200 (GRCm39) |
N41Y |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,785 (GRCm39) |
Y586C |
probably damaging |
Het |
| Plcd1 |
G |
A |
9: 118,903,519 (GRCm39) |
Q442* |
probably null |
Het |
| Plppr5 |
A |
G |
3: 117,419,552 (GRCm39) |
T207A |
probably benign |
Het |
| Pomt1 |
C |
A |
2: 32,144,341 (GRCm39) |
A709E |
probably benign |
Het |
| Prmt8 |
A |
G |
6: 127,709,677 (GRCm39) |
M61T |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,214,506 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,021,747 (GRCm39) |
K493* |
probably null |
Het |
| Semp2l2a |
A |
G |
8: 13,886,844 (GRCm39) |
S416P |
possibly damaging |
Het |
| Tmc2 |
A |
T |
2: 130,076,738 (GRCm39) |
S355C |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,520,857 (GRCm39) |
S399P |
possibly damaging |
Het |
| Ttc14 |
T |
C |
3: 33,863,050 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,568,409 (GRCm39) |
S19168P |
probably damaging |
Het |
| Usp17lb |
A |
T |
7: 104,490,685 (GRCm39) |
S80T |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,804,120 (GRCm39) |
I457V |
possibly damaging |
Het |
| Wdr64 |
G |
T |
1: 175,553,979 (GRCm39) |
D170Y |
probably damaging |
Het |
| Zbtb42 |
T |
C |
12: 112,645,948 (GRCm39) |
V41A |
probably damaging |
Het |
|
| Other mutations in Or52b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01061:Or52b1
|
APN |
7 |
104,978,589 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01403:Or52b1
|
APN |
7 |
104,978,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01546:Or52b1
|
APN |
7 |
104,978,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02936:Or52b1
|
APN |
7 |
104,979,212 (GRCm39) |
nonsense |
probably null |
|
|
R0206:Or52b1
|
UTSW |
7 |
104,979,090 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0206:Or52b1
|
UTSW |
7 |
104,979,090 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1425:Or52b1
|
UTSW |
7 |
104,978,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Or52b1
|
UTSW |
7 |
104,978,590 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2126:Or52b1
|
UTSW |
7 |
104,978,459 (GRCm39) |
nonsense |
probably null |
|
|
R2511:Or52b1
|
UTSW |
7 |
104,978,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Or52b1
|
UTSW |
7 |
104,979,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3755:Or52b1
|
UTSW |
7 |
104,979,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4152:Or52b1
|
UTSW |
7 |
104,978,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4153:Or52b1
|
UTSW |
7 |
104,978,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Or52b1
|
UTSW |
7 |
104,978,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4247:Or52b1
|
UTSW |
7 |
104,979,355 (GRCm39) |
missense |
probably benign |
|
|
R5015:Or52b1
|
UTSW |
7 |
104,978,811 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5642:Or52b1
|
UTSW |
7 |
104,978,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6747:Or52b1
|
UTSW |
7 |
104,979,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6961:Or52b1
|
UTSW |
7 |
104,978,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Or52b1
|
UTSW |
7 |
104,978,475 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8066:Or52b1
|
UTSW |
7 |
104,978,761 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9273:Or52b1
|
UTSW |
7 |
104,978,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Or52b1
|
UTSW |
7 |
104,979,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAAGAATGTGCACATGG -3'
(R):5'- AAAATGACCCTGGCCATCTG -3'
Sequencing Primer
(F):5'- AATGTGCACATGGTGGGG -3'
(R):5'- CCTATCATATTTCTGCTGAAGAGGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation