Incidental Mutation 'R4449:Or52s1'
| ID |
328881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52s1
|
| Ensembl Gene |
ENSMUSG00000073955 |
| Gene Name |
olfactory receptor family 52 subfamily S member 1 |
| Synonyms |
MOR24-2, Olfr593, GA_x6K02T2PBJ9-5927412-5928362 |
| MMRRC Submission |
041710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4449 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102861069-102862052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102861687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 196
(I196F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098206]
[ENSMUST00000210686]
[ENSMUST00000214051]
|
| AlphaFold |
Q8VF28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098206
AA Change: I207F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095807
Gene: ENSMUSG00000073955
AA Change: I207F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
44 |
323 |
4.9e-106 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
48 |
320 |
2.6e-8 |
PFAM |
|
Pfam:7tm_1
|
54 |
305 |
6.8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210686
AA Change: I196F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214051
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (47/48) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap3 |
A |
T |
15: 83,218,759 (GRCm39) |
Y105N |
probably damaging |
Het |
| Arid3b |
T |
A |
9: 57,705,404 (GRCm39) |
K266* |
probably null |
Het |
| Bend3 |
A |
G |
10: 43,388,079 (GRCm39) |
E824G |
possibly damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
| Cadm1 |
T |
A |
9: 47,725,286 (GRCm39) |
|
probably benign |
Het |
| Cadm1 |
C |
T |
9: 47,441,735 (GRCm39) |
A22V |
possibly damaging |
Het |
| Cntrob |
C |
A |
11: 69,196,375 (GRCm39) |
D687Y |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,857,185 (GRCm39) |
|
probably benign |
Het |
| Ddc |
T |
C |
11: 11,785,802 (GRCm39) |
D295G |
probably damaging |
Het |
| Fut10 |
T |
A |
8: 31,726,285 (GRCm39) |
Y347N |
probably damaging |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Helz |
T |
C |
11: 107,494,989 (GRCm39) |
V321A |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,421,709 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
T |
A |
4: 59,617,692 (GRCm39) |
I353K |
possibly damaging |
Het |
| Igkv3-2 |
G |
A |
6: 70,675,825 (GRCm39) |
A45T |
probably benign |
Het |
| Kcnh6 |
A |
G |
11: 105,909,762 (GRCm39) |
Y429C |
probably damaging |
Het |
| Luzp1 |
T |
A |
4: 136,268,174 (GRCm39) |
N132K |
probably damaging |
Het |
| Mlycd |
T |
A |
8: 120,137,144 (GRCm39) |
Y455N |
probably damaging |
Het |
| Myl7 |
C |
T |
11: 5,847,354 (GRCm39) |
D115N |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,827 (GRCm39) |
T461A |
probably damaging |
Het |
| Pi4kb |
C |
T |
3: 94,892,046 (GRCm39) |
S254L |
probably benign |
Het |
| Pitpnc1 |
A |
G |
11: 107,107,535 (GRCm39) |
V257A |
probably benign |
Het |
| Prpf40b |
A |
G |
15: 99,212,544 (GRCm39) |
D596G |
probably damaging |
Het |
| Rngtt |
T |
C |
4: 33,330,865 (GRCm39) |
F156S |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,781,844 (GRCm39) |
|
probably benign |
Het |
| Shisa6 |
T |
C |
11: 66,416,244 (GRCm39) |
T183A |
probably benign |
Het |
| Skint3 |
T |
A |
4: 112,127,206 (GRCm39) |
V287E |
possibly damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
A |
T |
13: 24,040,715 (GRCm39) |
S392C |
probably damaging |
Het |
| Snx14 |
T |
C |
9: 88,305,052 (GRCm39) |
I81V |
probably benign |
Het |
| Tdrd6 |
C |
T |
17: 43,940,626 (GRCm39) |
G141S |
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,797,234 (GRCm39) |
D99E |
probably benign |
Het |
| Trim34b |
T |
C |
7: 103,984,935 (GRCm39) |
C318R |
probably benign |
Het |
| Ttc39a |
T |
C |
4: 109,299,500 (GRCm39) |
I449T |
possibly damaging |
Het |
| Twsg1 |
A |
C |
17: 66,233,305 (GRCm39) |
V215G |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,776,862 (GRCm39) |
V293A |
possibly damaging |
Het |
| Unk |
G |
A |
11: 115,944,460 (GRCm39) |
G404S |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,498,828 (GRCm39) |
|
probably null |
Het |
| Vps13b |
T |
C |
15: 35,876,939 (GRCm39) |
V2864A |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,818,040 (GRCm39) |
R1492W |
probably damaging |
Het |
| Zcchc3 |
G |
C |
2: 152,256,642 (GRCm39) |
P19R |
probably benign |
Het |
|
| Other mutations in Or52s1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00929:Or52s1
|
APN |
7 |
102,861,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01636:Or52s1
|
APN |
7 |
102,861,384 (GRCm39) |
missense |
probably benign |
|
|
IGL01637:Or52s1
|
APN |
7 |
102,861,384 (GRCm39) |
missense |
probably benign |
|
|
IGL02115:Or52s1
|
APN |
7 |
102,861,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02668:Or52s1
|
APN |
7 |
102,861,942 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03063:Or52s1
|
APN |
7 |
102,861,841 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03070:Or52s1
|
APN |
7 |
102,861,904 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03114:Or52s1
|
APN |
7 |
102,861,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0144:Or52s1
|
UTSW |
7 |
102,861,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Or52s1
|
UTSW |
7 |
102,861,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0238:Or52s1
|
UTSW |
7 |
102,861,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0239:Or52s1
|
UTSW |
7 |
102,861,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0239:Or52s1
|
UTSW |
7 |
102,861,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0309:Or52s1
|
UTSW |
7 |
102,861,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0602:Or52s1
|
UTSW |
7 |
102,861,787 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0677:Or52s1
|
UTSW |
7 |
102,862,005 (GRCm39) |
nonsense |
probably null |
|
|
R0783:Or52s1
|
UTSW |
7 |
102,861,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Or52s1
|
UTSW |
7 |
102,861,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3840:Or52s1
|
UTSW |
7 |
102,861,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3841:Or52s1
|
UTSW |
7 |
102,861,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Or52s1
|
UTSW |
7 |
102,861,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5197:Or52s1
|
UTSW |
7 |
102,861,207 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5285:Or52s1
|
UTSW |
7 |
102,862,005 (GRCm39) |
nonsense |
probably null |
|
|
R6548:Or52s1
|
UTSW |
7 |
102,861,111 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7353:Or52s1
|
UTSW |
7 |
102,861,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7362:Or52s1
|
UTSW |
7 |
102,861,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Or52s1
|
UTSW |
7 |
102,861,652 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7799:Or52s1
|
UTSW |
7 |
102,861,186 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8405:Or52s1
|
UTSW |
7 |
102,861,408 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8835:Or52s1
|
UTSW |
7 |
102,861,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9417:Or52s1
|
UTSW |
7 |
102,861,156 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9429:Or52s1
|
UTSW |
7 |
102,861,871 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
X0067:Or52s1
|
UTSW |
7 |
102,861,255 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACACTCAGCTATTTTGACACAC -3'
(R):5'- ATATGCACTTGGGGAGCCAC -3'
Sequencing Primer
(F):5'- TTTGACACACACTGTAACTGGAGG -3'
(R):5'- ACCTTGTGCCCAAATCTATGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation