Incidental Mutation 'R6680:Or51a39'
| ID |
527450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51a39
|
| Ensembl Gene |
ENSMUSG00000066273 |
| Gene Name |
olfactory receptor family 51 subfamily A member 39 |
| Synonyms |
MTPCR33, MOR11-2, GA_x6K02T2PBJ9-5431102-5430146, Olfr33 |
| MMRRC Submission |
044799-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R6680 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102362662-102363618 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102363522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 33
(I33F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084817]
[ENSMUST00000094124]
[ENSMUST00000216312]
|
| AlphaFold |
Q8VGX7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084817
AA Change: I33F
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081877
Gene: ENSMUSG00000066273
AA Change: I33F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
317 |
2.1e-117 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
41 |
211 |
7.5e-11 |
PFAM |
|
Pfam:7tm_1
|
47 |
299 |
2.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094124
|
| SMART Domains |
Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
311 |
6.2e-117 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
308 |
2.4e-7 |
PFAM |
|
Pfam:7tm_1
|
43 |
293 |
2.4e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210002
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216312
AA Change: I33F
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.2%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
G |
17: 56,098,959 (GRCm39) |
K155R |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,967,117 (GRCm39) |
|
probably null |
Het |
| AW011738 |
A |
G |
4: 156,288,182 (GRCm39) |
|
probably benign |
Het |
| Btnl12 |
T |
C |
16: 37,676,536 (GRCm39) |
D77G |
probably benign |
Het |
| Ccl3 |
A |
G |
11: 83,539,132 (GRCm39) |
S76P |
probably benign |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,179,857 (GRCm39) |
L286P |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,684 (GRCm39) |
Y463* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,395,949 (GRCm39) |
T1915A |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,293,048 (GRCm39) |
Q4162R |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,331,859 (GRCm39) |
R293H |
probably damaging |
Het |
| Mipep |
A |
G |
14: 61,025,672 (GRCm39) |
I143V |
possibly damaging |
Het |
| Mrc2 |
C |
T |
11: 105,216,579 (GRCm39) |
R123C |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,824,540 (GRCm39) |
K223R |
probably null |
Het |
| Nudt16l2 |
A |
G |
9: 105,020,773 (GRCm39) |
S163P |
probably damaging |
Het |
| Nuf2 |
A |
C |
1: 169,342,578 (GRCm39) |
|
probably null |
Het |
| Omd |
T |
C |
13: 49,743,004 (GRCm39) |
V18A |
possibly damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,954 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or8k53 |
T |
A |
2: 86,177,589 (GRCm39) |
I174F |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,974,603 (GRCm39) |
S1384G |
probably damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,078,757 (GRCm39) |
S311P |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,076,218 (GRCm39) |
E765K |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,437 (GRCm39) |
I138K |
probably damaging |
Het |
| Tbx15 |
T |
A |
3: 99,220,389 (GRCm39) |
Y54* |
probably null |
Het |
| Tulp4 |
T |
G |
17: 6,189,312 (GRCm39) |
W45G |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,370,154 (GRCm39) |
Y433H |
probably damaging |
Het |
| Usp13 |
T |
C |
3: 32,935,618 (GRCm39) |
V348A |
probably damaging |
Het |
| Vezf1 |
T |
C |
11: 87,972,410 (GRCm39) |
I439T |
probably benign |
Het |
| Vmn2r93 |
C |
A |
17: 18,536,920 (GRCm39) |
Y534* |
probably null |
Het |
| Zfp579 |
A |
G |
7: 4,996,501 (GRCm39) |
L470P |
probably damaging |
Het |
| Zfp598 |
A |
G |
17: 24,897,660 (GRCm39) |
N327S |
probably benign |
Het |
| Zscan4d |
A |
T |
7: 10,896,366 (GRCm39) |
S335T |
possibly damaging |
Het |
|
| Other mutations in Or51a39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02064:Or51a39
|
APN |
7 |
102,362,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02349:Or51a39
|
APN |
7 |
102,363,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02739:Or51a39
|
APN |
7 |
102,363,521 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03110:Or51a39
|
APN |
7 |
102,363,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03014:Or51a39
|
UTSW |
7 |
102,362,753 (GRCm39) |
missense |
probably null |
0.91 |
|
R0158:Or51a39
|
UTSW |
7 |
102,363,162 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1455:Or51a39
|
UTSW |
7 |
102,363,205 (GRCm39) |
nonsense |
probably null |
|
|
R1996:Or51a39
|
UTSW |
7 |
102,362,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2032:Or51a39
|
UTSW |
7 |
102,363,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2152:Or51a39
|
UTSW |
7 |
102,362,788 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4852:Or51a39
|
UTSW |
7 |
102,362,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4965:Or51a39
|
UTSW |
7 |
102,362,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5264:Or51a39
|
UTSW |
7 |
102,363,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5464:Or51a39
|
UTSW |
7 |
102,362,889 (GRCm39) |
missense |
probably benign |
|
|
R7195:Or51a39
|
UTSW |
7 |
102,362,873 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7373:Or51a39
|
UTSW |
7 |
102,363,306 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7391:Or51a39
|
UTSW |
7 |
102,363,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7872:Or51a39
|
UTSW |
7 |
102,363,389 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7948:Or51a39
|
UTSW |
7 |
102,362,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8097:Or51a39
|
UTSW |
7 |
102,363,197 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8969:Or51a39
|
UTSW |
7 |
102,363,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9349:Or51a39
|
UTSW |
7 |
102,362,875 (GRCm39) |
nonsense |
probably null |
|
|
R9589:Or51a39
|
UTSW |
7 |
102,363,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGACAGGCATTGAAGTCG -3'
(R):5'- GACTTTTGACTCAATGCTATGTCAC -3'
Sequencing Primer
(F):5'- CATTGAAGTCGATGAAACGATAGTC -3'
(R):5'- GACTCAATGCTATGTCACTCTCTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation