Incidental Mutation 'R4133:Or2t46'
ID |
314754 |
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 |
041637-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R4133 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58471663-58472703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58471901 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 77
(Y77F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169428]
[ENSMUST00000203418]
|
AlphaFold |
Q5NCD2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169428
AA Change: Y77F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000131257 Gene: ENSMUSG00000060765 AA Change: Y77F
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 |
probably damaging
Transcript: ENSMUST00000203418
AA Change: Y77F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000145386 Gene: ENSMUSG00000060765 AA Change: Y77F
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 |
0.4039 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (77/79) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700036A12Rik |
T |
A |
9: 60,677,280 (GRCm39) |
|
noncoding transcript |
Het |
Aldh3b1 |
A |
G |
19: 3,970,808 (GRCm39) |
I184T |
probably damaging |
Het |
Arhgap42 |
C |
T |
9: 9,011,300 (GRCm39) |
|
probably benign |
Het |
Arhgef4 |
A |
G |
1: 34,845,185 (GRCm39) |
D1463G |
probably damaging |
Het |
Arpc5 |
A |
G |
1: 152,644,622 (GRCm39) |
T52A |
probably benign |
Het |
Asb6 |
A |
G |
2: 30,718,247 (GRCm39) |
|
probably benign |
Het |
Ash1l |
T |
C |
3: 88,889,567 (GRCm39) |
V482A |
probably benign |
Het |
Bop1 |
T |
C |
15: 76,338,535 (GRCm39) |
N469S |
probably benign |
Het |
Btaf1 |
T |
A |
19: 36,939,138 (GRCm39) |
N266K |
probably benign |
Het |
Btla |
T |
C |
16: 45,059,661 (GRCm39) |
Y122H |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,323,370 (GRCm39) |
M1278T |
probably damaging |
Het |
Cdc42bpb |
A |
G |
12: 111,287,976 (GRCm39) |
S524P |
probably benign |
Het |
Cep78 |
A |
G |
19: 15,946,519 (GRCm39) |
S438P |
probably damaging |
Het |
Clca4a |
T |
G |
3: 144,675,113 (GRCm39) |
E171D |
probably benign |
Het |
Cldn6 |
A |
T |
17: 23,900,467 (GRCm39) |
I144F |
probably damaging |
Het |
Cpd |
G |
A |
11: 76,705,644 (GRCm39) |
Q363* |
probably null |
Het |
Cpn1 |
G |
A |
19: 43,974,723 (GRCm39) |
P2L |
possibly damaging |
Het |
Ddx31 |
A |
G |
2: 28,748,864 (GRCm39) |
D264G |
probably damaging |
Het |
Ddx39b |
C |
T |
17: 35,472,065 (GRCm39) |
S368L |
probably damaging |
Het |
Ddx60 |
A |
G |
8: 62,425,254 (GRCm39) |
K681E |
probably damaging |
Het |
Dennd1c |
A |
C |
17: 57,383,980 (GRCm39) |
W15G |
possibly damaging |
Het |
Dgkd |
T |
G |
1: 87,869,223 (GRCm39) |
|
probably null |
Het |
Dnah7c |
G |
T |
1: 46,705,150 (GRCm39) |
A2388S |
probably benign |
Het |
Etv4 |
C |
A |
11: 101,661,324 (GRCm39) |
K442N |
probably damaging |
Het |
Fam234a |
T |
C |
17: 26,432,532 (GRCm39) |
D539G |
probably damaging |
Het |
Fancm |
A |
G |
12: 65,167,304 (GRCm39) |
T1538A |
probably benign |
Het |
Fbn2 |
A |
T |
18: 58,229,034 (GRCm39) |
N725K |
possibly damaging |
Het |
Fcer2a |
T |
A |
8: 3,741,130 (GRCm39) |
N4I |
possibly damaging |
Het |
Fgd5 |
T |
C |
6: 92,046,418 (GRCm39) |
V1229A |
probably damaging |
Het |
Garin4 |
A |
T |
1: 190,895,205 (GRCm39) |
N479K |
probably benign |
Het |
Gm5471 |
A |
T |
15: 44,835,297 (GRCm39) |
|
noncoding transcript |
Het |
Gm5478 |
T |
A |
15: 101,553,080 (GRCm39) |
I331F |
probably damaging |
Het |
Gm6729 |
C |
A |
10: 86,377,030 (GRCm39) |
|
noncoding transcript |
Het |
Hectd4 |
G |
T |
5: 121,415,897 (GRCm39) |
|
probably null |
Het |
Hspb3 |
A |
C |
13: 113,800,027 (GRCm39) |
M1R |
probably null |
Het |
Igkv10-95 |
T |
C |
6: 68,657,601 (GRCm39) |
V19A |
probably damaging |
Het |
Il1rap |
A |
G |
16: 26,541,636 (GRCm39) |
S626G |
probably benign |
Het |
Ints9 |
A |
G |
14: 65,228,003 (GRCm39) |
H103R |
probably benign |
Het |
Itga4 |
T |
A |
2: 79,152,996 (GRCm39) |
D894E |
probably damaging |
Het |
Khsrp |
T |
C |
17: 57,332,605 (GRCm39) |
H225R |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,057,650 (GRCm39) |
Y575H |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,119,481 (GRCm39) |
I2653F |
probably damaging |
Het |
Map4k5 |
A |
T |
12: 69,892,497 (GRCm39) |
L144Q |
probably damaging |
Het |
Mcm5 |
A |
G |
8: 75,842,482 (GRCm39) |
Y252C |
probably damaging |
Het |
Mmgt2 |
A |
G |
11: 62,555,877 (GRCm39) |
E75G |
probably damaging |
Het |
Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
Nckap5 |
A |
G |
1: 126,150,443 (GRCm39) |
V162A |
probably benign |
Het |
Nr3c2 |
T |
C |
8: 77,636,378 (GRCm39) |
I493T |
probably damaging |
Het |
Or2ag16 |
A |
C |
7: 106,352,286 (GRCm39) |
L103R |
probably damaging |
Het |
Or9s15 |
T |
C |
1: 92,524,465 (GRCm39) |
F75L |
probably benign |
Het |
Papola |
A |
G |
12: 105,765,917 (GRCm39) |
T6A |
possibly damaging |
Het |
Ppp1cc |
G |
A |
5: 122,306,289 (GRCm39) |
R36Q |
probably benign |
Het |
Ptpro |
G |
T |
6: 137,397,370 (GRCm39) |
W81C |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,130,773 (GRCm39) |
S162P |
possibly damaging |
Het |
Rpusd2 |
T |
C |
2: 118,869,196 (GRCm39) |
S540P |
probably damaging |
Het |
Scn5a |
T |
A |
9: 119,315,438 (GRCm39) |
T1757S |
probably damaging |
Het |
Setbp1 |
T |
C |
18: 78,900,206 (GRCm39) |
I1154V |
probably benign |
Het |
Sirt1 |
T |
C |
10: 63,171,438 (GRCm39) |
I209V |
probably null |
Het |
Slco6c1 |
T |
A |
1: 97,009,218 (GRCm39) |
I406L |
probably benign |
Het |
Smc2 |
A |
G |
4: 52,450,947 (GRCm39) |
E255G |
probably damaging |
Het |
Snap91 |
C |
A |
9: 86,659,102 (GRCm39) |
G477V |
probably damaging |
Het |
Speg |
A |
G |
1: 75,404,548 (GRCm39) |
Q2780R |
probably benign |
Het |
Spmap2 |
T |
C |
10: 79,415,884 (GRCm39) |
T236A |
probably damaging |
Het |
Ssh2 |
A |
G |
11: 77,312,095 (GRCm39) |
Y196C |
probably damaging |
Het |
Ssxb9 |
A |
T |
X: 8,235,845 (GRCm39) |
T18S |
probably damaging |
Het |
Stxbp5l |
T |
C |
16: 37,028,481 (GRCm39) |
I527M |
possibly damaging |
Het |
Tex10 |
T |
C |
4: 48,468,968 (GRCm39) |
Y69C |
probably damaging |
Het |
Thoc3 |
T |
C |
13: 54,616,361 (GRCm39) |
D87G |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trps1 |
T |
C |
15: 50,694,783 (GRCm39) |
K213R |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,197,240 (GRCm39) |
L1221Q |
probably damaging |
Het |
Vmn2r3 |
T |
A |
3: 64,183,138 (GRCm39) |
Y187F |
probably damaging |
Het |
Washc2 |
G |
A |
6: 116,235,891 (GRCm39) |
E1121K |
probably damaging |
Het |
Zfx |
T |
C |
X: 93,124,464 (GRCm39) |
N360D |
probably damaging |
Het |
Znhit3 |
A |
G |
11: 84,807,139 (GRCm39) |
V10A |
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 |
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 |
R5393: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'- ACACAGTCAGATTTCACCCTG -3'
(R):5'- CACACCCTGTGGTTCATGAG -3'
Sequencing Primer
(F):5'- GGTGGGATTCTTCAGTCAATCCAAAC -3'
(R):5'- ACCCTGTGGTTCATGAGGACAG -3'
|
Posted On |
2015-05-14 |