Incidental Mutation 'R6639:Or1n2'
| ID |
525632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1n2
|
| Ensembl Gene |
ENSMUSG00000055088 |
| Gene Name |
olfactory receptor family 1 subfamily N member 2 |
| Synonyms |
GA_x6K02T2NLDC-33601476-33602429, MOR127-4, Olfr354 |
| MMRRC Submission |
044760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R6639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
36796960-36797913 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36797690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 244
(C244Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068475]
[ENSMUST00000217479]
|
| AlphaFold |
Q8VGJ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068475
AA Change: C244Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068986
Gene: ENSMUSG00000055088
AA Change: C244Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
310 |
2.1e-62 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
2.9e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121665
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217479
AA Change: C244Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218102
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
G |
10: 10,311,700 (GRCm39) |
I238L |
possibly damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,297,818 (GRCm39) |
Y313C |
probably damaging |
Het |
| Capn15 |
C |
T |
17: 26,179,152 (GRCm39) |
V940I |
probably benign |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Cfap20dc |
A |
G |
14: 8,536,530 (GRCm38) |
S226P |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,411,909 (GRCm39) |
E1245G |
probably benign |
Het |
| Depdc7 |
C |
T |
2: 104,555,098 (GRCm39) |
D271N |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,854,870 (GRCm39) |
D10G |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,708,243 (GRCm39) |
E158G |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,530,481 (GRCm39) |
G227D |
probably benign |
Het |
| Epha1 |
C |
A |
6: 42,342,869 (GRCm39) |
E227* |
probably null |
Het |
| Fbxo40 |
A |
T |
16: 36,790,937 (GRCm39) |
C58S |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,196,479 (GRCm39) |
T611A |
unknown |
Het |
| Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,813,571 (GRCm39) |
D3297N |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,879,537 (GRCm39) |
R930G |
possibly damaging |
Het |
| Hdac4 |
A |
T |
1: 91,898,670 (GRCm39) |
C695S |
probably damaging |
Het |
| Ier2 |
G |
A |
8: 85,388,791 (GRCm39) |
T197M |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,552,496 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,567,562 (GRCm39) |
D207G |
possibly damaging |
Het |
| Khdrbs2 |
A |
T |
1: 32,506,943 (GRCm39) |
R196* |
probably null |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,090,883 (GRCm39) |
Q225* |
probably null |
Het |
| Or14j3 |
A |
G |
17: 37,900,822 (GRCm39) |
C141R |
probably damaging |
Het |
| Pdrg1 |
T |
C |
2: 152,857,191 (GRCm39) |
E17G |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,676,200 (GRCm39) |
P354S |
probably benign |
Het |
| Sh3rf3 |
T |
A |
10: 58,919,289 (GRCm39) |
Y469N |
probably damaging |
Het |
| Thoc6 |
T |
A |
17: 23,889,428 (GRCm39) |
|
probably null |
Het |
| Tpm3 |
C |
G |
3: 89,987,109 (GRCm39) |
A24G |
probably damaging |
Het |
| Tuft1 |
T |
C |
3: 94,539,930 (GRCm39) |
M93V |
probably benign |
Het |
| Vmn1r22 |
T |
C |
6: 57,877,699 (GRCm39) |
I93V |
probably benign |
Het |
| Zfp383 |
T |
C |
7: 29,614,152 (GRCm39) |
S136P |
probably benign |
Het |
| Zfp748 |
T |
C |
13: 67,691,024 (GRCm39) |
K79E |
probably damaging |
Het |
|
| Other mutations in Or1n2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01942:Or1n2
|
APN |
2 |
36,797,869 (GRCm39) |
missense |
probably benign |
|
|
IGL02573:Or1n2
|
APN |
2 |
36,797,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0027:Or1n2
|
UTSW |
2 |
36,797,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0040:Or1n2
|
UTSW |
2 |
36,797,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Or1n2
|
UTSW |
2 |
36,797,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0760:Or1n2
|
UTSW |
2 |
36,797,233 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1727:Or1n2
|
UTSW |
2 |
36,797,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2972:Or1n2
|
UTSW |
2 |
36,797,416 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4671:Or1n2
|
UTSW |
2 |
36,797,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4750:Or1n2
|
UTSW |
2 |
36,797,728 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5043:Or1n2
|
UTSW |
2 |
36,796,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5400:Or1n2
|
UTSW |
2 |
36,797,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5543:Or1n2
|
UTSW |
2 |
36,797,369 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5792:Or1n2
|
UTSW |
2 |
36,797,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6876:Or1n2
|
UTSW |
2 |
36,797,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7965:Or1n2
|
UTSW |
2 |
36,796,953 (GRCm39) |
start gained |
probably benign |
|
|
R8351:Or1n2
|
UTSW |
2 |
36,797,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8859:Or1n2
|
UTSW |
2 |
36,797,516 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
T0722:Or1n2
|
UTSW |
2 |
36,797,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Or1n2
|
UTSW |
2 |
36,797,713 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTCTGCTGAAACTTGCC -3'
(R):5'- CACATCACAACCTGGAGGAG -3'
Sequencing Primer
(F):5'- CTGTTCTGACACCCACATTAATGAG -3'
(R):5'- GAATCACTGGAGAATCACAGTTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation