Incidental Mutation 'R5822:Or2t49'
| ID |
449988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2t49
|
| Ensembl Gene |
ENSMUSG00000058807 |
| Gene Name |
olfactory receptor family 2 subfamily T member 49 |
| Synonyms |
GA_x6K02T2NKPP-912840-913784, Olfr331, MOR275-4 |
| MMRRC Submission |
044052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5822 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58392424-58393398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58392464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 306
(L306Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081743]
[ENSMUST00000170501]
|
| AlphaFold |
Q5NC44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081743
AA Change: L312Q
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000080440
Gene: ENSMUSG00000058807
AA Change: L312Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
315 |
1e-42 |
PFAM |
|
Pfam:7tm_1
|
45 |
299 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170501
AA Change: L306Q
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132693
Gene: ENSMUSG00000058807
AA Change: L306Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
39 |
292 |
4.9e-28 |
PFAM |
|
Pfam:7tm_4
|
141 |
285 |
3.6e-42 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (54/56) |
| 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, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8a |
C |
T |
11: 109,921,705 (GRCm39) |
E1450K |
probably damaging |
Het |
| B4galnt2 |
T |
C |
11: 95,756,985 (GRCm39) |
Y482C |
probably damaging |
Het |
| Bud23 |
A |
G |
5: 135,092,775 (GRCm39) |
F9L |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 136,039,816 (GRCm39) |
E1214V |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,861,823 (GRCm39) |
M1T |
probably null |
Het |
| Chkb |
T |
C |
15: 89,313,715 (GRCm39) |
E30G |
probably benign |
Het |
| Crp |
A |
C |
1: 172,525,635 (GRCm39) |
|
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,708,670 (GRCm39) |
R375G |
probably null |
Het |
| Ddx11 |
C |
T |
17: 66,436,976 (GRCm39) |
S90L |
probably benign |
Het |
| Flnc |
A |
C |
6: 29,459,429 (GRCm39) |
I2510L |
probably damaging |
Het |
| Ftdc1 |
C |
A |
16: 58,436,075 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
T |
A |
15: 6,692,707 (GRCm39) |
|
probably benign |
Het |
| Gbp3 |
C |
T |
3: 142,272,239 (GRCm39) |
P247L |
probably benign |
Het |
| Ggn |
C |
T |
7: 28,871,981 (GRCm39) |
P454S |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,352,894 (GRCm39) |
S2127T |
probably benign |
Het |
| Ipo11 |
A |
G |
13: 106,984,926 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
G |
A |
2: 62,546,582 (GRCm39) |
R1000W |
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
| Klc3 |
C |
T |
7: 19,129,724 (GRCm39) |
|
probably null |
Het |
| Lst1 |
A |
T |
17: 35,407,359 (GRCm39) |
M3K |
unknown |
Het |
| Madd |
C |
T |
2: 90,982,878 (GRCm39) |
R1355Q |
probably damaging |
Het |
| Map3k10 |
A |
G |
7: 27,356,159 (GRCm39) |
L920P |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,109 (GRCm39) |
V423A |
probably damaging |
Het |
| Mogat2 |
T |
C |
7: 98,869,112 (GRCm39) |
D302G |
possibly damaging |
Het |
| Nkapl |
A |
C |
13: 21,652,593 (GRCm39) |
S7A |
unknown |
Het |
| Npas2 |
A |
G |
1: 39,386,647 (GRCm39) |
S639G |
probably benign |
Het |
| Nr1h5 |
T |
G |
3: 102,856,644 (GRCm39) |
H260P |
probably damaging |
Het |
| Or2g25 |
T |
C |
17: 37,971,122 (GRCm39) |
Y34C |
probably damaging |
Het |
| Or4c35 |
T |
C |
2: 89,808,787 (GRCm39) |
S222P |
probably damaging |
Het |
| Or7a36 |
C |
T |
10: 78,820,023 (GRCm39) |
T133I |
possibly damaging |
Het |
| Or8a1b |
T |
C |
9: 37,623,087 (GRCm39) |
M163V |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,156,249 (GRCm39) |
L1142P |
probably damaging |
Het |
| Pdik1l |
C |
T |
4: 134,014,474 (GRCm39) |
E11K |
possibly damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,172,727 (GRCm39) |
V555A |
probably damaging |
Het |
| Ppp6c |
G |
A |
2: 39,090,064 (GRCm39) |
Q81* |
probably null |
Het |
| Pramel18 |
A |
G |
4: 101,767,440 (GRCm39) |
M230V |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,001,444 (GRCm39) |
Y1178F |
probably benign |
Het |
| Relch |
G |
A |
1: 105,646,581 (GRCm39) |
V660M |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,339,886 (GRCm39) |
L860Q |
probably damaging |
Het |
| Sdr39u1 |
A |
G |
14: 56,135,196 (GRCm39) |
V249A |
probably benign |
Het |
| Serhl |
T |
C |
15: 83,000,528 (GRCm39) |
V305A |
probably benign |
Het |
| Slc5a11 |
T |
C |
7: 122,851,654 (GRCm39) |
I201T |
probably damaging |
Het |
| Stk32a |
A |
T |
18: 43,446,552 (GRCm39) |
E334V |
probably benign |
Het |
| Tmem217 |
A |
G |
17: 29,745,529 (GRCm39) |
L67P |
probably damaging |
Het |
| Tnnt1 |
A |
T |
7: 4,519,345 (GRCm39) |
L12* |
probably null |
Het |
| Trim80 |
C |
T |
11: 115,338,747 (GRCm39) |
R526C |
probably damaging |
Het |
| Unc5b |
A |
T |
10: 60,608,306 (GRCm39) |
F635I |
possibly damaging |
Het |
| Utp20 |
T |
G |
10: 88,653,147 (GRCm39) |
N311T |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,982,457 (GRCm39) |
T74A |
probably benign |
Het |
|
| Other mutations in Or2t49 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01124:Or2t49
|
APN |
11 |
58,393,020 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02458:Or2t49
|
APN |
11 |
58,393,073 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02971:Or2t49
|
APN |
11 |
58,393,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03346:Or2t49
|
APN |
11 |
58,392,581 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0416:Or2t49
|
UTSW |
11 |
58,393,222 (GRCm39) |
missense |
unknown |
|
|
R1547:Or2t49
|
UTSW |
11 |
58,392,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1697:Or2t49
|
UTSW |
11 |
58,392,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Or2t49
|
UTSW |
11 |
58,392,885 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1721:Or2t49
|
UTSW |
11 |
58,392,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2194:Or2t49
|
UTSW |
11 |
58,392,468 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3606:Or2t49
|
UTSW |
11 |
58,392,957 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4457:Or2t49
|
UTSW |
11 |
58,392,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Or2t49
|
UTSW |
11 |
58,392,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Or2t49
|
UTSW |
11 |
58,392,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Or2t49
|
UTSW |
11 |
58,392,431 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6337:Or2t49
|
UTSW |
11 |
58,392,838 (GRCm39) |
nonsense |
probably null |
|
|
R6416:Or2t49
|
UTSW |
11 |
58,393,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Or2t49
|
UTSW |
11 |
58,393,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7108:Or2t49
|
UTSW |
11 |
58,393,380 (GRCm39) |
missense |
probably benign |
|
|
R8327:Or2t49
|
UTSW |
11 |
58,392,942 (GRCm39) |
missense |
probably benign |
|
|
R9507:Or2t49
|
UTSW |
11 |
58,392,576 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
RF035:Or2t49
|
UTSW |
11 |
58,393,208 (GRCm39) |
small deletion |
probably benign |
|
|
Z1186:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Z1186:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1186:Or2t49
|
UTSW |
11 |
58,393,210 (GRCm39) |
small deletion |
probably benign |
|
|
Z1187:Or2t49
|
UTSW |
11 |
58,392,936 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1187:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1187:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Z1187:Or2t49
|
UTSW |
11 |
58,392,474 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2t49
|
UTSW |
11 |
58,392,927 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2t49
|
UTSW |
11 |
58,392,927 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2t49
|
UTSW |
11 |
58,392,474 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Z1188:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1188:Or2t49
|
UTSW |
11 |
58,392,936 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1189:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1189:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Z1190:Or2t49
|
UTSW |
11 |
58,392,927 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2t49
|
UTSW |
11 |
58,392,474 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Z1190:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1190:Or2t49
|
UTSW |
11 |
58,392,936 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1191:Or2t49
|
UTSW |
11 |
58,392,474 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Z1191:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1191:Or2t49
|
UTSW |
11 |
58,392,936 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1191:Or2t49
|
UTSW |
11 |
58,392,927 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1192:Or2t49
|
UTSW |
11 |
58,393,210 (GRCm39) |
small deletion |
probably benign |
|
|
Z1192:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAATGATAAGACCTTTGTCCCATG -3'
(R):5'- GTCACCCTCTACTATGGTGC -3'
Sequencing Primer
(F):5'- GACCTTTGTCCCATGAAATTAAACAG -3'
(R):5'- ACTATGGTGCTGCTATCTATACC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation