Incidental Mutation 'R5128:Or2t48'
| ID |
394870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2t48
|
| Ensembl Gene |
ENSMUSG00000050818 |
| Gene Name |
olfactory receptor family 2 subfamily T member 48 |
| Synonyms |
Olfr330, MOR275-1, GA_x6K02T2NKPP-895420-896349 |
| MMRRC Submission |
042716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5128 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58419755-58425651 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58420248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 188
(V188E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134055]
[ENSMUST00000213188]
|
| AlphaFold |
Q8VGD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062869
AA Change: V188E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063194
Gene: ENSMUSG00000050818
AA Change: V188E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
312 |
1.6e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
309 |
4.4e-6 |
PFAM |
|
Pfam:7tm_1
|
45 |
294 |
2.3e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117184
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134055
AA Change: V188E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145126
Gene: ENSMUSG00000050818
AA Change: V188E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
312 |
1.6e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
309 |
4.4e-6 |
PFAM |
|
Pfam:7tm_1
|
45 |
294 |
2.3e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203550
|
| SMART Domains |
Protein: ENSMUSP00000145138
Gene: ENSMUSG00000050818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
130 |
1.1e-13 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
130 |
1.3e-4 |
PFAM |
|
Pfam:7tm_1
|
45 |
130 |
6.3e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213188
AA Change: V188E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.7054 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (48/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,639,070 (GRCm39) |
S958P |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,994,451 (GRCm39) |
L5245P |
probably damaging |
Het |
| Alg5 |
T |
A |
3: 54,649,558 (GRCm39) |
|
probably null |
Het |
| Anapc1 |
A |
G |
2: 128,501,837 (GRCm39) |
V735A |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,866,793 (GRCm39) |
T1099A |
probably benign |
Het |
| Cacna1e |
A |
C |
1: 154,277,767 (GRCm39) |
S2062A |
probably damaging |
Het |
| Chrna9 |
A |
G |
5: 66,128,565 (GRCm39) |
S258G |
probably benign |
Het |
| Ctcfl |
T |
C |
2: 172,959,189 (GRCm39) |
E179G |
probably benign |
Het |
| Dcdc2a |
C |
A |
13: 25,286,512 (GRCm39) |
A145E |
probably damaging |
Het |
| Dgkz |
A |
G |
2: 91,773,028 (GRCm39) |
I343T |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,018,152 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
T |
C |
6: 83,037,548 (GRCm39) |
L374P |
probably damaging |
Het |
| Entpd5 |
A |
T |
12: 84,441,464 (GRCm39) |
F101L |
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,567,468 (GRCm39) |
|
probably benign |
Het |
| Fgf1 |
C |
A |
18: 38,975,078 (GRCm39) |
V124L |
probably benign |
Het |
| Gm16380 |
C |
T |
9: 53,791,397 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
G |
A |
6: 64,642,982 (GRCm39) |
A915T |
probably benign |
Het |
| Inhbc |
A |
T |
10: 127,193,611 (GRCm39) |
M135K |
probably benign |
Het |
| Mertk |
C |
A |
2: 128,580,167 (GRCm39) |
T207K |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,983,187 (GRCm39) |
T498I |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,167,034 (GRCm39) |
|
probably null |
Het |
| Nlrp1c-ps |
G |
T |
11: 71,170,421 (GRCm39) |
|
noncoding transcript |
Het |
| Nphp4 |
T |
A |
4: 152,587,448 (GRCm39) |
I267N |
probably benign |
Het |
| Obox8 |
A |
G |
7: 14,066,015 (GRCm39) |
W168R |
probably damaging |
Het |
| Or4a74 |
A |
T |
2: 89,439,647 (GRCm39) |
D266E |
probably damaging |
Het |
| Or8c8 |
T |
C |
9: 38,164,866 (GRCm39) |
L48P |
probably damaging |
Het |
| Pafah1b1 |
A |
G |
11: 74,570,262 (GRCm39) |
|
probably benign |
Het |
| Palld |
T |
C |
8: 62,173,622 (GRCm39) |
T346A |
probably damaging |
Het |
| Pip4k2b |
A |
G |
11: 97,609,702 (GRCm39) |
S412P |
probably benign |
Het |
| Potefam1 |
G |
A |
2: 110,994,674 (GRCm39) |
Q251* |
probably null |
Het |
| Scn3a |
T |
C |
2: 65,338,862 (GRCm39) |
S606G |
probably benign |
Het |
| Slc12a7 |
G |
T |
13: 73,953,552 (GRCm39) |
S754I |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,081,736 (GRCm39) |
*489R |
probably null |
Het |
| Tnn |
A |
T |
1: 159,950,464 (GRCm39) |
V714E |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
| Ttc16 |
T |
A |
2: 32,653,009 (GRCm39) |
I550F |
probably benign |
Het |
| Vit |
T |
C |
17: 78,932,575 (GRCm39) |
S561P |
probably damaging |
Het |
| Zdhhc1 |
T |
A |
8: 106,210,268 (GRCm39) |
I50F |
probably benign |
Het |
| Zfp451 |
C |
T |
1: 33,842,014 (GRCm39) |
|
probably benign |
Het |
| Zfp597 |
G |
A |
16: 3,689,988 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or2t48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01484:Or2t48
|
APN |
11 |
58,420,222 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01672:Or2t48
|
APN |
11 |
58,419,948 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01782:Or2t48
|
APN |
11 |
58,419,985 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01998:Or2t48
|
APN |
11 |
58,420,403 (GRCm39) |
nonsense |
probably null |
|
|
IGL02538:Or2t48
|
APN |
11 |
58,420,816 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1670:Or2t48
|
UTSW |
11 |
58,420,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:Or2t48
|
UTSW |
11 |
58,420,342 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1768:Or2t48
|
UTSW |
11 |
58,420,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Or2t48
|
UTSW |
11 |
58,420,199 (GRCm39) |
nonsense |
probably null |
|
|
R2129:Or2t48
|
UTSW |
11 |
58,420,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2135:Or2t48
|
UTSW |
11 |
58,420,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2425:Or2t48
|
UTSW |
11 |
58,420,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3753:Or2t48
|
UTSW |
11 |
58,420,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4480:Or2t48
|
UTSW |
11 |
58,420,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4827:Or2t48
|
UTSW |
11 |
58,420,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4836:Or2t48
|
UTSW |
11 |
58,420,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4973:Or2t48
|
UTSW |
11 |
58,419,903 (GRCm39) |
missense |
probably benign |
|
|
R5288:Or2t48
|
UTSW |
11 |
58,420,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5326:Or2t48
|
UTSW |
11 |
58,420,710 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5542:Or2t48
|
UTSW |
11 |
58,420,710 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5620:Or2t48
|
UTSW |
11 |
58,420,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6210:Or2t48
|
UTSW |
11 |
58,420,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7163:Or2t48
|
UTSW |
11 |
58,419,994 (GRCm39) |
nonsense |
probably null |
|
|
R7886:Or2t48
|
UTSW |
11 |
58,419,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8201:Or2t48
|
UTSW |
11 |
58,419,865 (GRCm39) |
makesense |
noncoding transcript |
|
|
R8519:Or2t48
|
UTSW |
11 |
58,420,329 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8728:Or2t48
|
UTSW |
11 |
58,420,027 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9175:Or2t48
|
UTSW |
11 |
58,420,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Or2t48
|
UTSW |
11 |
58,420,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9190:Or2t48
|
UTSW |
11 |
58,420,161 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9471:Or2t48
|
UTSW |
11 |
58,420,355 (GRCm39) |
nonsense |
probably null |
|
|
RF003:Or2t48
|
UTSW |
11 |
58,419,983 (GRCm39) |
frame shift |
probably null |
|
|
RF004:Or2t48
|
UTSW |
11 |
58,419,983 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTAGGTATAGATAGCAGCACC -3'
(R):5'- TGTCCTACGACCGCTATGTG -3'
Sequencing Primer
(F):5'- CAGTCATGTGGGAGGAGC -3'
(R):5'- TACGACCGCTATGTGGCCATC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation