Incidental Mutation 'R5751:Or5an6'
| ID |
446025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5an6
|
| Ensembl Gene |
ENSMUSG00000046650 |
| Gene Name |
olfactory receptor family 5 subfamily AN member 6 |
| Synonyms |
MOR215-1, GA_x6K02T2RE5P-2725206-2726153, Olfr1440 |
| MMRRC Submission |
043201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5751 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12371629-12372576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12371780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 51
(R51K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054567]
[ENSMUST00000213657]
[ENSMUST00000213894]
[ENSMUST00000216145]
[ENSMUST00000217062]
|
| AlphaFold |
Q8VFV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054567
AA Change: R51K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000054798
Gene: ENSMUSG00000046650
AA Change: R51K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
7.5e-52 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
7.2e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208644
AA Change: R51K
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213657
AA Change: R51K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213894
AA Change: R51K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214082
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216145
AA Change: R51K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217062
AA Change: R51K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216773
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,368,893 (GRCm39) |
T1704A |
possibly damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,447 (GRCm39) |
D273E |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,670,355 (GRCm39) |
L1610F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 73,000,172 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
A |
12: 8,062,619 (GRCm39) |
Y87* |
probably null |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,508,144 (GRCm39) |
V599A |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,032,863 (GRCm39) |
I391F |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,360,453 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
G |
T |
5: 105,229,124 (GRCm39) |
Q508K |
probably benign |
Het |
| Grpel1 |
C |
T |
5: 36,626,811 (GRCm39) |
T31M |
probably benign |
Het |
| Gtf3c4 |
C |
T |
2: 28,717,511 (GRCm39) |
A790T |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,449,305 (GRCm39) |
C115R |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
| Ldc1 |
A |
C |
4: 130,114,234 (GRCm39) |
V61G |
probably benign |
Het |
| Lhx3 |
A |
G |
2: 26,091,173 (GRCm39) |
S379P |
probably benign |
Het |
| Mocs1 |
A |
G |
17: 49,756,766 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
C |
A |
14: 103,385,986 (GRCm39) |
V3457F |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,861 (GRCm39) |
I135L |
probably benign |
Het |
| Or4a2 |
A |
T |
2: 89,248,031 (GRCm39) |
I242N |
probably damaging |
Het |
| Orc5 |
C |
T |
5: 22,704,969 (GRCm39) |
|
probably null |
Het |
| Phf20 |
T |
C |
2: 156,109,261 (GRCm39) |
S203P |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,817,204 (GRCm39) |
S1815G |
possibly damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,871,790 (GRCm39) |
V11A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,300,086 (GRCm39) |
|
probably null |
Het |
| Ranbp3l |
A |
G |
15: 9,063,169 (GRCm39) |
D326G |
probably damaging |
Het |
| Rsph4a |
C |
T |
10: 33,781,789 (GRCm39) |
A213V |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,476,913 (GRCm39) |
S570P |
probably benign |
Het |
| Spata31d1b |
T |
A |
13: 59,866,787 (GRCm39) |
C1312S |
probably benign |
Het |
| Sphkap |
G |
T |
1: 83,253,618 (GRCm39) |
T1377K |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,438,085 (GRCm39) |
R195W |
possibly damaging |
Het |
| Tacr2 |
T |
C |
10: 62,088,769 (GRCm39) |
I58T |
probably damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,547 (GRCm39) |
K43N |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Uckl1 |
A |
G |
2: 181,216,245 (GRCm39) |
S167P |
possibly damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,954,128 (GRCm39) |
Y764C |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,408,423 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or5an6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02104:Or5an6
|
APN |
19 |
12,372,263 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02517:Or5an6
|
APN |
19 |
12,372,265 (GRCm39) |
missense |
probably benign |
|
|
IGL03173:Or5an6
|
APN |
19 |
12,372,410 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03412:Or5an6
|
APN |
19 |
12,371,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Or5an6
|
UTSW |
19 |
12,371,914 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0240:Or5an6
|
UTSW |
19 |
12,372,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0240:Or5an6
|
UTSW |
19 |
12,372,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1184:Or5an6
|
UTSW |
19 |
12,372,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1430:Or5an6
|
UTSW |
19 |
12,371,801 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4111:Or5an6
|
UTSW |
19 |
12,371,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6796:Or5an6
|
UTSW |
19 |
12,372,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7392:Or5an6
|
UTSW |
19 |
12,371,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8048:Or5an6
|
UTSW |
19 |
12,371,719 (GRCm39) |
missense |
not run |
|
|
R9612:Or5an6
|
UTSW |
19 |
12,371,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7580:Or5an6
|
UTSW |
19 |
12,371,914 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1088:Or5an6
|
UTSW |
19 |
12,371,663 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGGTTCAAAGTGCTCC -3'
(R):5'- AGCATACCGGTCATAAGCCATG -3'
Sequencing Primer
(F):5'- TTCAAAGTGCTCCGAGACG -3'
(R):5'- ATTCGGACAGACCCAGGCTTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation