Incidental Mutation 'R0060:Or2b4'
| ID |
64401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2b4
|
| Ensembl Gene |
ENSMUSG00000044985 |
| Gene Name |
olfactory receptor family 2 subfamily B member 4 |
| Synonyms |
MOR256-3, A3, Olfr124, SR1, GA_x6K02T2PSCP-2264806-2265753 |
| MMRRC Submission |
038353-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0060 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
38115960-38117081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38116891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 285
(L285P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053599]
[ENSMUST00000215168]
[ENSMUST00000216478]
[ENSMUST00000217365]
|
| AlphaFold |
Q8VGW6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053599
AA Change: L285P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000050544
Gene: ENSMUSG00000044985
AA Change: L285P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
9e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
7.3e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174446
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215168
AA Change: L285P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216478
AA Change: L285P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217365
AA Change: L285P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
98% (60/61) |
| 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]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a significantly reduced density of olfactory sensory neurons in the septal organ, and show altered patterns of odorant responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
A |
C |
11: 58,313,008 (GRCm39) |
|
probably benign |
Het |
| A630091E08Rik |
A |
G |
7: 98,192,875 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
T |
C |
11: 109,961,306 (GRCm39) |
T539A |
probably damaging |
Het |
| Ankrd60 |
A |
T |
2: 173,414,406 (GRCm39) |
M1K |
probably null |
Het |
| Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
| Cabcoco1 |
A |
T |
10: 68,369,692 (GRCm39) |
|
probably null |
Het |
| Capn7 |
T |
C |
14: 31,087,561 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
G |
A |
9: 78,610,389 (GRCm39) |
E1145K |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,806,399 (GRCm39) |
V2353D |
probably damaging |
Het |
| Cep350 |
C |
T |
1: 155,804,372 (GRCm39) |
D904N |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,688,019 (GRCm39) |
|
probably benign |
Het |
| Colec10 |
G |
A |
15: 54,302,542 (GRCm39) |
|
probably benign |
Het |
| Cst11 |
T |
A |
2: 148,612,322 (GRCm39) |
Q105L |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,786,857 (GRCm39) |
L11S |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,198,009 (GRCm39) |
I317T |
possibly damaging |
Het |
| Itgad |
T |
C |
7: 127,802,158 (GRCm39) |
S979P |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,791,442 (GRCm39) |
|
probably null |
Het |
| Nubpl |
T |
C |
12: 52,357,470 (GRCm39) |
|
probably benign |
Het |
| Or5be3 |
T |
C |
2: 86,864,118 (GRCm39) |
Y149C |
probably damaging |
Het |
| Pard3b |
G |
A |
1: 61,678,474 (GRCm39) |
E25K |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 42,836,197 (GRCm39) |
Y8* |
probably null |
Het |
| Phf14 |
T |
C |
6: 11,953,316 (GRCm39) |
S352P |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
| Prap1 |
G |
T |
7: 139,673,390 (GRCm39) |
|
probably benign |
Het |
| Prdm8 |
T |
A |
5: 98,333,119 (GRCm39) |
F229I |
probably benign |
Het |
| Rfx6 |
T |
C |
10: 51,553,936 (GRCm39) |
F11L |
probably benign |
Het |
| Rfx8 |
T |
A |
1: 39,757,565 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
C |
T |
2: 52,001,129 (GRCm39) |
R1528C |
probably damaging |
Het |
| Ripk4 |
G |
A |
16: 97,564,718 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
T |
A |
17: 52,047,231 (GRCm39) |
I695F |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,859,293 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
T |
A |
2: 122,527,104 (GRCm39) |
T381S |
probably benign |
Het |
| Suv39h2 |
T |
C |
2: 3,465,953 (GRCm39) |
Y134C |
probably damaging |
Het |
| Tcerg1 |
C |
T |
18: 42,657,073 (GRCm39) |
A185V |
unknown |
Het |
| Tep1 |
T |
A |
14: 51,103,486 (GRCm39) |
D268V |
probably damaging |
Het |
| Tmem89 |
T |
A |
9: 108,744,485 (GRCm39) |
V126D |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,098,121 (GRCm39) |
T46A |
probably benign |
Het |
| Trmt6 |
C |
T |
2: 132,648,689 (GRCm39) |
R415Q |
possibly damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,035,006 (GRCm39) |
K1625E |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,964,420 (GRCm39) |
I292N |
possibly damaging |
Het |
|
| Other mutations in Or2b4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Or2b4
|
APN |
17 |
38,116,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01512:Or2b4
|
APN |
17 |
38,116,503 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01986:Or2b4
|
APN |
17 |
38,116,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03151:Or2b4
|
APN |
17 |
38,116,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Or2b4
|
UTSW |
17 |
38,116,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1075:Or2b4
|
UTSW |
17 |
38,116,660 (GRCm39) |
nonsense |
probably null |
|
|
R1177:Or2b4
|
UTSW |
17 |
38,116,843 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1422:Or2b4
|
UTSW |
17 |
38,116,254 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1875:Or2b4
|
UTSW |
17 |
38,115,996 (GRCm39) |
start gained |
probably benign |
|
|
R2088:Or2b4
|
UTSW |
17 |
38,116,686 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4712:Or2b4
|
UTSW |
17 |
38,116,591 (GRCm39) |
nonsense |
probably null |
|
|
R6025:Or2b4
|
UTSW |
17 |
38,116,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6241:Or2b4
|
UTSW |
17 |
38,116,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6992:Or2b4
|
UTSW |
17 |
38,116,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7221:Or2b4
|
UTSW |
17 |
38,116,452 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7383:Or2b4
|
UTSW |
17 |
38,116,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7659:Or2b4
|
UTSW |
17 |
38,116,054 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7881:Or2b4
|
UTSW |
17 |
38,116,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8018:Or2b4
|
UTSW |
17 |
38,116,038 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R8341:Or2b4
|
UTSW |
17 |
38,116,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9638:Or2b4
|
UTSW |
17 |
38,116,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTCGCCGGAAGGCATTTAATAC -3'
(R):5'- GCTTCAGCTCAAGCATCCCATAAGG -3'
Sequencing Primer
(F):5'- CCGGAAGGCATTTAATACCTGTG -3'
(R):5'- AGCATCCCATAAGGTTATTGCC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation