Incidental Mutation 'R5717:Or5an11'
| ID |
451247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5an11
|
| Ensembl Gene |
ENSMUSG00000060049 |
| Gene Name |
olfactory receptor family 5 subfamily AN member 11 |
| Synonyms |
Olfr245, GA_x6K02T2LL2P-1028-792, Olfr232, GA_x6K02T03CT6-1-477, GA_x6K02T057QT-4025-4642, MOR214-3, Olfr235, MOR214-3 |
| MMRRC Submission |
043337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R5717 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12245596-12246534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12246520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 309
(K309E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073507]
[ENSMUST00000207969]
[ENSMUST00000214551]
[ENSMUST00000214613]
[ENSMUST00000214638]
[ENSMUST00000215407]
|
| AlphaFold |
E9Q9Z6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073507
AA Change: K309E
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000073203
Gene: ENSMUSG00000060049
AA Change: K309E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
3.8e-56 |
PFAM |
|
Pfam:7tm_1
|
42 |
309 |
1.2e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207842
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207969
AA Change: K309E
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214551
AA Change: K309E
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214613
AA Change: K309E
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214638
AA Change: K309E
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215407
AA Change: K309E
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (48/49) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
A |
T |
19: 42,041,484 (GRCm39) |
H205L |
probably benign |
Het |
| Acss2 |
T |
C |
2: 155,403,073 (GRCm39) |
L617S |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,197,971 (GRCm39) |
V77A |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,171,479 (GRCm39) |
S977P |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,619,377 (GRCm39) |
K1492E |
possibly damaging |
Het |
| B4galt5 |
G |
A |
2: 167,148,549 (GRCm39) |
R190C |
probably damaging |
Het |
| Bbs1 |
A |
G |
19: 4,947,354 (GRCm39) |
V355A |
possibly damaging |
Het |
| Cenpj |
GTTTT |
GTTTTT |
14: 56,790,978 (GRCm39) |
|
probably null |
Het |
| Ckap2 |
T |
C |
8: 22,665,063 (GRCm39) |
E467G |
probably damaging |
Het |
| Cry1 |
A |
T |
10: 84,982,280 (GRCm39) |
H355Q |
probably damaging |
Het |
| Cspg4 |
G |
T |
9: 56,793,082 (GRCm39) |
M272I |
probably benign |
Het |
| Dicer1 |
T |
A |
12: 104,671,387 (GRCm39) |
Y961F |
probably damaging |
Het |
| Epha2 |
A |
T |
4: 141,049,382 (GRCm39) |
M689L |
probably benign |
Het |
| Foxc1 |
C |
T |
13: 31,991,471 (GRCm39) |
A94V |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,929,596 (GRCm39) |
V4000A |
possibly damaging |
Het |
| Frmd8 |
G |
T |
19: 5,923,396 (GRCm39) |
|
probably benign |
Het |
| Gm5218 |
A |
G |
15: 81,383,478 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7735 |
T |
C |
16: 88,966,430 (GRCm39) |
L18P |
unknown |
Het |
| Hr |
C |
T |
14: 70,803,616 (GRCm39) |
T808I |
probably benign |
Het |
| Hyal6 |
T |
C |
6: 24,743,690 (GRCm39) |
M462T |
probably benign |
Het |
| Igkv6-20 |
T |
A |
6: 70,313,412 (GRCm39) |
|
probably benign |
Het |
| Igkv8-27 |
T |
A |
6: 70,148,918 (GRCm39) |
T59S |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,659,531 (GRCm39) |
T428A |
probably benign |
Het |
| Klk1b16 |
A |
G |
7: 43,788,913 (GRCm39) |
I49V |
probably benign |
Het |
| Matn2 |
G |
T |
15: 34,399,237 (GRCm39) |
E375* |
probably null |
Het |
| Msgn1 |
T |
C |
12: 11,258,519 (GRCm39) |
Y144C |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,099,782 (GRCm39) |
N564S |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,963,555 (GRCm39) |
V972A |
probably damaging |
Het |
| Or4c29 |
T |
C |
2: 88,740,366 (GRCm39) |
I124V |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Ppp2r5d |
A |
G |
17: 46,998,820 (GRCm39) |
S81P |
probably damaging |
Het |
| Ptgis |
C |
T |
2: 167,050,284 (GRCm39) |
|
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,884,018 (GRCm39) |
N25S |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,944,623 (GRCm39) |
T456I |
probably damaging |
Het |
| Rpl6l |
T |
C |
10: 110,961,884 (GRCm39) |
|
noncoding transcript |
Het |
| Rps25 |
A |
G |
9: 44,320,047 (GRCm39) |
Y23C |
probably benign |
Het |
| Sec24a |
A |
G |
11: 51,598,037 (GRCm39) |
V879A |
probably benign |
Het |
| Sema6a |
G |
A |
18: 47,382,330 (GRCm39) |
A739V |
probably benign |
Het |
| Senp6 |
A |
T |
9: 79,999,594 (GRCm39) |
I4F |
probably damaging |
Het |
| Slc49a4 |
A |
G |
16: 35,539,799 (GRCm39) |
F341L |
probably benign |
Het |
| Stoml3 |
A |
T |
3: 53,412,937 (GRCm39) |
Q197L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,578,091 (GRCm39) |
K24267N |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,905 (GRCm39) |
S194G |
probably damaging |
Het |
| Vmn2r17 |
C |
T |
5: 109,575,140 (GRCm39) |
T149I |
possibly damaging |
Het |
| Wdr72 |
T |
A |
9: 74,055,487 (GRCm39) |
Y239N |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,413,187 (GRCm39) |
|
probably null |
Het |
| Zfp759 |
T |
A |
13: 67,286,772 (GRCm39) |
C114S |
probably damaging |
Het |
|
| Other mutations in Or5an11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02116:Or5an11
|
APN |
19 |
12,246,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03397:Or5an11
|
APN |
19 |
12,245,866 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1239:Or5an11
|
UTSW |
19 |
12,246,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Or5an11
|
UTSW |
19 |
12,246,258 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1441:Or5an11
|
UTSW |
19 |
12,245,750 (GRCm39) |
nonsense |
probably null |
|
|
R1694:Or5an11
|
UTSW |
19 |
12,246,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:Or5an11
|
UTSW |
19 |
12,246,365 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2422:Or5an11
|
UTSW |
19 |
12,246,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3439:Or5an11
|
UTSW |
19 |
12,245,759 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4545:Or5an11
|
UTSW |
19 |
12,246,188 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4605:Or5an11
|
UTSW |
19 |
12,246,532 (GRCm39) |
makesense |
probably null |
|
|
R5147:Or5an11
|
UTSW |
19 |
12,246,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5382:Or5an11
|
UTSW |
19 |
12,245,773 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6455:Or5an11
|
UTSW |
19 |
12,246,070 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6880:Or5an11
|
UTSW |
19 |
12,245,974 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7311:Or5an11
|
UTSW |
19 |
12,246,068 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7384:Or5an11
|
UTSW |
19 |
12,246,440 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8138:Or5an11
|
UTSW |
19 |
12,246,436 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9005:Or5an11
|
UTSW |
19 |
12,245,704 (GRCm39) |
missense |
probably benign |
|
|
R9118:Or5an11
|
UTSW |
19 |
12,246,263 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9484:Or5an11
|
UTSW |
19 |
12,245,735 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9549:Or5an11
|
UTSW |
19 |
12,246,408 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9691:Or5an11
|
UTSW |
19 |
12,246,379 (GRCm39) |
nonsense |
probably null |
|
|
R9738:Or5an11
|
UTSW |
19 |
12,245,869 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTCTCACCTGACAGCTG -3'
(R):5'- CCCTGCTGTTCTTAAAACTAATGTG -3'
Sequencing Primer
(F):5'- TGACAGCTGTTTCTCTCTTCTATAG -3'
(R):5'- GTTCATGTTGGCATACAGTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation