Incidental Mutation 'R5393:Or2t46'
| ID |
425970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2t46
|
| Ensembl Gene |
ENSMUSG00000060765 |
| Gene Name |
olfactory receptor family 2 subfamily T member 46 |
| Synonyms |
MOR275-11_p, Olfr325, GA_x6K02T2NKPP-844642-843680, MOR275-5 |
| MMRRC Submission |
042965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R5393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58471663-58472703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 58471825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 52
(L52V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169428]
[ENSMUST00000203418]
|
| AlphaFold |
Q5NCD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169428
AA Change: L52V
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131257
Gene: ENSMUSG00000060765
AA Change: L52V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
312 |
2.3e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
290 |
1.4e-6 |
PFAM |
|
Pfam:7tm_1
|
45 |
294 |
1.6e-27 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203418
AA Change: L52V
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000145386
Gene: ENSMUSG00000060765
AA Change: L52V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
130 |
7.6e-14 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
130 |
1.1e-4 |
PFAM |
|
Pfam:7tm_1
|
45 |
130 |
2.6e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.4028 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (72/73) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110025L11Rik |
A |
T |
16: 88,860,653 (GRCm39) |
Y60* |
probably null |
Het |
| Abca6 |
T |
A |
11: 110,135,121 (GRCm39) |
E221D |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adi1 |
A |
G |
12: 28,725,274 (GRCm39) |
D8G |
probably benign |
Het |
| Adnp |
T |
C |
2: 168,024,869 (GRCm39) |
K809E |
possibly damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,574,011 (GRCm39) |
H4R |
probably benign |
Het |
| Atp6v0a1 |
T |
C |
11: 100,929,633 (GRCm39) |
S485P |
possibly damaging |
Het |
| C1galt1 |
T |
C |
6: 7,864,143 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
A |
T |
6: 119,216,015 (GRCm39) |
N94I |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,924 (GRCm39) |
N899S |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,067,997 (GRCm39) |
T463A |
probably benign |
Het |
| Coro2a |
A |
G |
4: 46,542,255 (GRCm39) |
S373P |
probably damaging |
Het |
| Cpsf6 |
G |
C |
10: 117,197,921 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,497,099 (GRCm39) |
N3099K |
probably damaging |
Het |
| Ctla2b |
T |
A |
13: 61,043,946 (GRCm39) |
E74D |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,391,683 (GRCm39) |
T671S |
probably benign |
Het |
| Drd5 |
T |
A |
5: 38,478,248 (GRCm39) |
S414T |
probably benign |
Het |
| Dyrk2 |
C |
T |
10: 118,695,753 (GRCm39) |
D502N |
probably damaging |
Het |
| Ecel1 |
A |
T |
1: 87,080,598 (GRCm39) |
L376Q |
possibly damaging |
Het |
| Efcab8 |
G |
A |
2: 153,622,903 (GRCm39) |
R24Q |
unknown |
Het |
| Eloc |
A |
C |
1: 16,718,192 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,515,819 (GRCm39) |
|
probably benign |
Het |
| Fam89b |
T |
C |
19: 5,778,733 (GRCm39) |
D152G |
probably damaging |
Het |
| Gm15455 |
G |
A |
1: 33,875,927 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
A |
G |
18: 10,458,312 (GRCm39) |
T30A |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,010,887 (GRCm39) |
Y238C |
probably damaging |
Het |
| Ighv2-5 |
T |
C |
12: 113,649,502 (GRCm39) |
T12A |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,718,007 (GRCm39) |
|
probably null |
Het |
| Irf9 |
T |
C |
14: 55,843,914 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,277,653 (GRCm39) |
C280* |
probably null |
Het |
| Kcnk18 |
T |
C |
19: 59,208,271 (GRCm39) |
C36R |
probably damaging |
Het |
| Khdc4 |
T |
A |
3: 88,603,913 (GRCm39) |
H243Q |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,785,051 (GRCm39) |
N125K |
probably benign |
Het |
| Lce1i |
T |
C |
3: 92,685,042 (GRCm39) |
S45G |
unknown |
Het |
| Lrmda |
A |
C |
14: 22,077,374 (GRCm39) |
D37A |
probably damaging |
Het |
| Marco |
A |
C |
1: 120,413,583 (GRCm39) |
D280E |
probably damaging |
Het |
| Meak7 |
T |
C |
8: 120,499,157 (GRCm39) |
I112V |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,450 (GRCm39) |
Q180* |
probably null |
Het |
| Npdc1 |
A |
T |
2: 25,298,682 (GRCm39) |
M265L |
probably damaging |
Het |
| Nudcd3 |
T |
C |
11: 6,063,274 (GRCm39) |
K205R |
probably damaging |
Het |
| Or2ak6 |
T |
A |
11: 58,593,326 (GRCm39) |
H266Q |
probably damaging |
Het |
| Pcdhga5 |
C |
T |
18: 37,829,720 (GRCm39) |
R723C |
probably benign |
Het |
| Pdlim5 |
T |
A |
3: 141,964,947 (GRCm39) |
E295D |
probably damaging |
Het |
| Poli |
C |
A |
18: 70,650,499 (GRCm39) |
E314* |
probably null |
Het |
| Ptpro |
A |
G |
6: 137,357,222 (GRCm39) |
N238D |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,159,084 (GRCm39) |
I920V |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,187,375 (GRCm39) |
V1338M |
probably damaging |
Het |
| Saa3 |
T |
C |
7: 46,362,085 (GRCm39) |
Y53C |
probably damaging |
Het |
| Septin14 |
T |
A |
5: 129,760,650 (GRCm39) |
E398D |
probably benign |
Het |
| Six3 |
T |
C |
17: 85,931,270 (GRCm39) |
S309P |
possibly damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,311,919 (GRCm39) |
S34P |
probably damaging |
Het |
| Smarca2 |
C |
A |
19: 26,617,829 (GRCm39) |
Q287K |
probably benign |
Het |
| Stard9 |
C |
T |
2: 120,533,387 (GRCm39) |
L522F |
possibly damaging |
Het |
| Sycp1 |
T |
C |
3: 102,748,363 (GRCm39) |
|
probably null |
Het |
| Tbc1d8 |
A |
T |
1: 39,465,169 (GRCm39) |
V73E |
probably damaging |
Het |
| Tmem120a |
T |
C |
5: 135,765,104 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,819,370 (GRCm39) |
E1251G |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wnt5b |
A |
C |
6: 119,417,394 (GRCm39) |
L157R |
probably damaging |
Het |
| Zbtb24 |
T |
A |
10: 41,340,578 (GRCm39) |
V536E |
probably damaging |
Het |
| Zfp593 |
G |
A |
4: 133,972,615 (GRCm39) |
A67V |
probably benign |
Het |
| Zfp995 |
A |
T |
17: 22,099,473 (GRCm39) |
F254I |
probably benign |
Het |
|
| Other mutations in Or2t46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Or2t46
|
APN |
11 |
58,472,636 (GRCm39) |
missense |
probably benign |
|
|
IGL01922:Or2t46
|
APN |
11 |
58,471,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02440:Or2t46
|
APN |
11 |
58,472,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02456:Or2t46
|
APN |
11 |
58,472,024 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03088:Or2t46
|
APN |
11 |
58,472,653 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03328:Or2t46
|
APN |
11 |
58,472,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0604:Or2t46
|
UTSW |
11 |
58,472,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1698:Or2t46
|
UTSW |
11 |
58,472,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2473:Or2t46
|
UTSW |
11 |
58,472,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2888:Or2t46
|
UTSW |
11 |
58,471,988 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4133:Or2t46
|
UTSW |
11 |
58,471,901 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4710:Or2t46
|
UTSW |
11 |
58,472,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Or2t46
|
UTSW |
11 |
58,472,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Or2t46
|
UTSW |
11 |
58,472,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Or2t46
|
UTSW |
11 |
58,472,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Or2t46
|
UTSW |
11 |
58,472,455 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5389:Or2t46
|
UTSW |
11 |
58,471,825 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6137:Or2t46
|
UTSW |
11 |
58,471,894 (GRCm39) |
missense |
probably benign |
|
|
R6302:Or2t46
|
UTSW |
11 |
58,472,464 (GRCm39) |
missense |
probably benign |
|
|
R6655:Or2t46
|
UTSW |
11 |
58,472,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6927:Or2t46
|
UTSW |
11 |
58,472,491 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7451:Or2t46
|
UTSW |
11 |
58,472,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7494:Or2t46
|
UTSW |
11 |
58,472,038 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7626:Or2t46
|
UTSW |
11 |
58,471,999 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7724:Or2t46
|
UTSW |
11 |
58,472,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7874:Or2t46
|
UTSW |
11 |
58,472,573 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8217:Or2t46
|
UTSW |
11 |
58,471,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8252:Or2t46
|
UTSW |
11 |
58,471,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Or2t46
|
UTSW |
11 |
58,471,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9376:Or2t46
|
UTSW |
11 |
58,472,636 (GRCm39) |
missense |
probably benign |
|
|
R9439:Or2t46
|
UTSW |
11 |
58,472,104 (GRCm39) |
missense |
probably benign |
0.38 |
|
Z1177:Or2t46
|
UTSW |
11 |
58,472,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Or2t46
|
UTSW |
11 |
58,472,122 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or2t46
|
UTSW |
11 |
58,472,483 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or2t46
|
UTSW |
11 |
58,471,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Or2t46
|
UTSW |
11 |
58,471,757 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or2t46
|
UTSW |
11 |
58,471,828 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2t46
|
UTSW |
11 |
58,471,828 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2t46
|
UTSW |
11 |
58,471,757 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2t46
|
UTSW |
11 |
58,471,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Or2t46
|
UTSW |
11 |
58,472,483 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2t46
|
UTSW |
11 |
58,472,122 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2t46
|
UTSW |
11 |
58,471,828 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2t46
|
UTSW |
11 |
58,471,757 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2t46
|
UTSW |
11 |
58,471,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Or2t46
|
UTSW |
11 |
58,472,483 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2t46
|
UTSW |
11 |
58,472,122 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or2t46
|
UTSW |
11 |
58,472,122 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or2t46
|
UTSW |
11 |
58,471,757 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or2t46
|
UTSW |
11 |
58,471,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Or2t46
|
UTSW |
11 |
58,472,483 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2t46
|
UTSW |
11 |
58,471,828 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2t46
|
UTSW |
11 |
58,471,757 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2t46
|
UTSW |
11 |
58,471,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Or2t46
|
UTSW |
11 |
58,472,483 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2t46
|
UTSW |
11 |
58,472,122 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2t46
|
UTSW |
11 |
58,471,828 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2t46
|
UTSW |
11 |
58,471,757 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2t46
|
UTSW |
11 |
58,471,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Or2t46
|
UTSW |
11 |
58,472,483 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2t46
|
UTSW |
11 |
58,472,122 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2t46
|
UTSW |
11 |
58,472,122 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2t46
|
UTSW |
11 |
58,471,757 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2t46
|
UTSW |
11 |
58,471,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Or2t46
|
UTSW |
11 |
58,472,483 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTGCCTAGGAGACAAAC -3'
(R):5'- ATAGCGGTCATAAGACATGGC -3'
Sequencing Primer
(F):5'- TTGCCTAGGAGACAAACATGGACC -3'
(R):5'- CTGACCCTGCTAATGTCAGGTAGAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation