Incidental Mutation 'R6808:Or52j3'
| ID |
533653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52j3
|
| Ensembl Gene |
ENSMUSG00000073956 |
| Gene Name |
olfactory receptor family 52 subfamily J member 3 |
| Synonyms |
GA_x6K02T2PBJ9-5902266-5903204, MOR0-3P, MOR32-13, Olfr592, Olfr1525-ps1, MOR0-3P |
| MMRRC Submission |
044921-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R6808 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102835810-102836748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 102836511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 234
(D234E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098207]
[ENSMUST00000106893]
[ENSMUST00000218618]
|
| AlphaFold |
A0A2I3BPE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098207
AA Change: D234E
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000095808
Gene: ENSMUSG00000073956
AA Change: D234E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
38 |
309 |
1.4e-6 |
PFAM |
|
Pfam:7tm_1
|
44 |
294 |
2.6e-26 |
PFAM |
|
Pfam:7tm_4
|
141 |
287 |
2.3e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106893
AA Change: D234E
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102506
Gene: ENSMUSG00000073956
AA Change: D234E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
312 |
6.9e-112 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
309 |
1.4e-6 |
PFAM |
|
Pfam:7tm_1
|
44 |
294 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218618
AA Change: D234E
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
T |
17: 33,652,098 (GRCm39) |
I53F |
probably damaging |
Het |
| Apol7b |
T |
A |
15: 77,308,873 (GRCm39) |
D75V |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,741,528 (GRCm39) |
A387T |
probably damaging |
Het |
| Cacybp |
T |
C |
1: 160,036,169 (GRCm39) |
|
probably null |
Het |
| Calcoco1 |
T |
C |
15: 102,618,875 (GRCm39) |
K444E |
probably damaging |
Het |
| Cers2 |
G |
A |
3: 95,228,320 (GRCm39) |
R120H |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,099,086 (GRCm39) |
C1587S |
possibly damaging |
Het |
| Col11a1 |
A |
T |
3: 113,888,593 (GRCm39) |
K286N |
possibly damaging |
Het |
| Creld2 |
A |
G |
15: 88,709,413 (GRCm39) |
N308S |
probably damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,440,934 (GRCm39) |
S151P |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,955,242 (GRCm39) |
H642R |
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,665,206 (GRCm39) |
Y151C |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,079,462 (GRCm39) |
M1206K |
probably benign |
Het |
| Fam178b |
G |
A |
1: 36,639,216 (GRCm39) |
T361M |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,059,035 (GRCm39) |
F234S |
probably benign |
Het |
| Gcc2 |
A |
T |
10: 58,094,064 (GRCm39) |
E13D |
probably damaging |
Het |
| Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
| Gtf3c5 |
T |
C |
2: 28,460,499 (GRCm39) |
K367E |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,589,269 (GRCm39) |
E54G |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,848,346 (GRCm39) |
I492N |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,410,923 (GRCm39) |
N140S |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,229,528 (GRCm39) |
Y168H |
probably benign |
Het |
| Mbip |
A |
C |
12: 56,384,383 (GRCm39) |
|
probably null |
Het |
| Mcmdc2 |
C |
T |
1: 10,004,242 (GRCm39) |
T574I |
probably damaging |
Het |
| Or10a3b |
T |
C |
7: 108,444,747 (GRCm39) |
T157A |
probably benign |
Het |
| Or5w22 |
A |
T |
2: 87,363,285 (GRCm39) |
M303L |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,760,085 (GRCm39) |
I225N |
probably damaging |
Het |
| Or8g33 |
T |
C |
9: 39,337,836 (GRCm39) |
Y177C |
probably damaging |
Het |
| Or9s27 |
A |
T |
1: 92,516,768 (GRCm39) |
R239W |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,287,957 (GRCm39) |
*1148Q |
probably null |
Het |
| Phactr1 |
T |
A |
13: 43,286,445 (GRCm39) |
I582N |
probably damaging |
Het |
| Phf20l1 |
T |
G |
15: 66,502,762 (GRCm39) |
L714R |
probably damaging |
Het |
| Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
| Rcor3 |
T |
C |
1: 191,822,179 (GRCm39) |
E6G |
possibly damaging |
Het |
| Skic3 |
T |
C |
13: 76,333,298 (GRCm39) |
S1516P |
probably damaging |
Het |
| Sptlc2 |
G |
A |
12: 87,397,069 (GRCm39) |
T239I |
possibly damaging |
Het |
| Tmc1 |
A |
T |
19: 20,772,880 (GRCm39) |
V707D |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,971,734 (GRCm39) |
E827V |
probably benign |
Het |
| Triml1 |
A |
G |
8: 43,594,258 (GRCm39) |
S58P |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,347,687 (GRCm39) |
H2022R |
possibly damaging |
Het |
|
| Other mutations in Or52j3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01546:Or52j3
|
APN |
7 |
102,836,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01650:Or52j3
|
APN |
7 |
102,836,286 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02682:Or52j3
|
APN |
7 |
102,836,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0925:Or52j3
|
UTSW |
7 |
102,836,030 (GRCm39) |
nonsense |
probably null |
|
|
R1543:Or52j3
|
UTSW |
7 |
102,836,421 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1761:Or52j3
|
UTSW |
7 |
102,836,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Or52j3
|
UTSW |
7 |
102,836,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2152:Or52j3
|
UTSW |
7 |
102,835,847 (GRCm39) |
missense |
probably benign |
|
|
R4678:Or52j3
|
UTSW |
7 |
102,836,098 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4679:Or52j3
|
UTSW |
7 |
102,836,309 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5177:Or52j3
|
UTSW |
7 |
102,836,710 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5986:Or52j3
|
UTSW |
7 |
102,836,735 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7400:Or52j3
|
UTSW |
7 |
102,836,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8781:Or52j3
|
UTSW |
7 |
102,836,082 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9245:Or52j3
|
UTSW |
7 |
102,836,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9470:Or52j3
|
UTSW |
7 |
102,836,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF005:Or52j3
|
UTSW |
7 |
102,835,898 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGGTAATTCGTCCAGC -3'
(R):5'- CACACTGTAAATGATGGGATTGAGG -3'
Sequencing Primer
(F):5'- TGTCAAGCTCATGTAATAGCCC -3'
(R):5'- CTGTAAATGATGGGATTGAGGGAGGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation