Incidental Mutation 'R4504:Or4c10'
| ID |
331916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c10
|
| Ensembl Gene |
ENSMUSG00000049149 |
| Gene Name |
olfactory receptor family 4 subfamily C member 10 |
| Synonyms |
GA_x6K02T2Q125-51361752-51362687, MOR232-3, Olfr1258 |
| MMRRC Submission |
041755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R4504 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89752288-89761090 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89760695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 181
(P181S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102609]
[ENSMUST00000111516]
[ENSMUST00000213720]
|
| AlphaFold |
Q8VGN6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102609
AA Change: P181S
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099669
Gene: ENSMUSG00000049149
AA Change: P181S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
2.6e-52 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
299 |
3.4e-5 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
6.4e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111516
AA Change: P181S
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107141
Gene: ENSMUSG00000049149
AA Change: P181S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
33 |
299 |
3.4e-5 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
4.9e-32 |
PFAM |
|
Pfam:7tm_4
|
137 |
278 |
2.7e-43 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213720
AA Change: P181S
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (45/45) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
G |
14: 44,407,899 (GRCm39) |
S45P |
probably damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,961,802 (GRCm39) |
R1124C |
possibly damaging |
Het |
| Anxa13 |
T |
C |
15: 58,228,052 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap32 |
C |
A |
9: 32,093,135 (GRCm39) |
|
probably null |
Het |
| Carm1 |
T |
C |
9: 21,480,822 (GRCm39) |
F99L |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,013,665 (GRCm39) |
E253G |
possibly damaging |
Het |
| Dsg4 |
A |
G |
18: 20,594,493 (GRCm39) |
I541V |
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,362,127 (GRCm39) |
T186A |
possibly damaging |
Het |
| Ear1 |
A |
T |
14: 44,056,721 (GRCm39) |
V49D |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Fndc8 |
T |
A |
11: 82,783,226 (GRCm39) |
M69K |
probably benign |
Het |
| Golga1 |
T |
C |
2: 38,913,466 (GRCm39) |
I482V |
probably benign |
Het |
| Hivep3 |
G |
A |
4: 119,590,990 (GRCm39) |
|
probably benign |
Het |
| Igkv13-85 |
A |
G |
6: 68,907,356 (GRCm39) |
F82L |
probably damaging |
Het |
| Itih1 |
G |
A |
14: 30,657,842 (GRCm39) |
R410C |
probably damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,291,699 (GRCm39) |
W296R |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 65,867,191 (GRCm39) |
Y817* |
probably null |
Het |
| Kif3b |
T |
C |
2: 153,165,564 (GRCm39) |
|
probably null |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,189 (GRCm39) |
V1022A |
probably benign |
Het |
| Npc1l1 |
A |
G |
11: 6,178,741 (GRCm39) |
L223S |
possibly damaging |
Het |
| Or11m3 |
T |
C |
15: 98,396,015 (GRCm39) |
F221L |
probably benign |
Het |
| Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,353,690 (GRCm39) |
D281G |
possibly damaging |
Het |
| Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,429,319 (GRCm39) |
C1553Y |
probably damaging |
Het |
| Pdgfc |
A |
C |
3: 81,082,298 (GRCm39) |
M164L |
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,333,880 (GRCm39) |
Y47C |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,150,945 (GRCm39) |
I633N |
probably damaging |
Het |
| Pkn1 |
G |
A |
8: 84,419,556 (GRCm39) |
R16* |
probably null |
Het |
| Pole2 |
A |
G |
12: 69,269,242 (GRCm39) |
V85A |
probably benign |
Het |
| Ppp4c |
A |
C |
7: 126,386,637 (GRCm39) |
L150R |
probably damaging |
Het |
| Pramel25 |
G |
C |
4: 143,520,553 (GRCm39) |
E102Q |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Rnf144a |
T |
A |
12: 26,377,302 (GRCm39) |
R92S |
probably benign |
Het |
| Sbno2 |
C |
A |
10: 79,896,326 (GRCm39) |
R898L |
possibly damaging |
Het |
| Scnn1b |
A |
C |
7: 121,511,698 (GRCm39) |
N370T |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,672,866 (GRCm39) |
E1302G |
possibly damaging |
Het |
|
| Other mutations in Or4c10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02386:Or4c10
|
APN |
2 |
89,760,888 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02552:Or4c10
|
APN |
2 |
89,760,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03300:Or4c10
|
APN |
2 |
89,760,571 (GRCm39) |
nonsense |
probably null |
|
|
R0081:Or4c10
|
UTSW |
2 |
89,760,423 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0197:Or4c10
|
UTSW |
2 |
89,760,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0701:Or4c10
|
UTSW |
2 |
89,760,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0883:Or4c10
|
UTSW |
2 |
89,760,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1163:Or4c10
|
UTSW |
2 |
89,760,449 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1833:Or4c10
|
UTSW |
2 |
89,760,645 (GRCm39) |
nonsense |
probably null |
|
|
R1846:Or4c10
|
UTSW |
2 |
89,761,010 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R4507:Or4c10
|
UTSW |
2 |
89,760,695 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4679:Or4c10
|
UTSW |
2 |
89,761,008 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4908:Or4c10
|
UTSW |
2 |
89,760,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5430:Or4c10
|
UTSW |
2 |
89,760,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6836:Or4c10
|
UTSW |
2 |
89,760,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Or4c10
|
UTSW |
2 |
89,761,064 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7709:Or4c10
|
UTSW |
2 |
89,760,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8060:Or4c10
|
UTSW |
2 |
89,760,693 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8349:Or4c10
|
UTSW |
2 |
89,760,878 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8449:Or4c10
|
UTSW |
2 |
89,760,878 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1177:Or4c10
|
UTSW |
2 |
89,760,942 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCATCCTGCTTACTGTG -3'
(R):5'- CAACAACTGTTATGTGGGAGACAC -3'
Sequencing Primer
(F):5'- ATGACCGCTATGTGGCAATC -3'
(R):5'- CACAAGTGGAGAGGGCTTTGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation