Incidental Mutation 'R1073:Or8k41'
| ID |
85517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8k41
|
| Ensembl Gene |
ENSMUSG00000111772 |
| Gene Name |
olfactory receptor family 8 subfamily K member 41 |
| Synonyms |
Olfr228, Olfr1071, GA_x6K02T0101M-139-669, MOR189-3, GA_x6K02T2Q125-47962802-47962551 |
| MMRRC Submission |
039159-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R1073 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
86313143-86314084 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86313984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 34
(I34T)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000216534]
[ENSMUST00000217292]
|
| AlphaFold |
A0A1L1SR98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099883
AA Change: I34T
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097468
Gene: ENSMUSG00000075180
AA Change: I34T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
1.5e-54 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
5.6e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215705
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216534
AA Change: I34T
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217292
AA Change: I34T
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.3228 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.5%
|
| Validation Efficiency |
98% (40/41) |
| 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 |
|---|
| Asap3 |
T |
C |
4: 135,963,742 (GRCm39) |
I334T |
probably damaging |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
T |
A |
14: 28,767,580 (GRCm39) |
H765L |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,030,195 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 16,408,477 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
A |
T |
5: 136,281,395 (GRCm39) |
|
probably null |
Het |
| D7Ertd443e |
T |
C |
7: 133,871,947 (GRCm39) |
K232R |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,757,814 (GRCm39) |
S97P |
probably benign |
Het |
| Eml5 |
G |
A |
12: 98,797,232 (GRCm39) |
A1099V |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,466,368 (GRCm39) |
A472T |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,458,689 (GRCm39) |
D117V |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,887,595 (GRCm39) |
Y461C |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,118,251 (GRCm39) |
|
probably null |
Het |
| Mrtfb |
T |
A |
16: 13,230,182 (GRCm39) |
S956T |
possibly damaging |
Het |
| Msrb3 |
T |
A |
10: 120,620,041 (GRCm39) |
S93C |
possibly damaging |
Het |
| Ncl |
AAAGCCTCCC |
AAAGCCTCCCAAGCCTCCC |
1: 86,278,538 (GRCm39) |
|
probably benign |
Het |
| Osbpl10 |
C |
T |
9: 115,036,621 (GRCm39) |
Q381* |
probably null |
Het |
| Pelp1 |
A |
G |
11: 70,287,416 (GRCm39) |
L464P |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,226,431 (GRCm39) |
D216G |
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,372,943 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
T |
C |
6: 142,294,370 (GRCm39) |
|
probably null |
Het |
| Ros1 |
T |
A |
10: 51,922,221 (GRCm39) |
D2284V |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,634,717 (GRCm39) |
S178P |
possibly damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,836 (GRCm39) |
D401N |
probably damaging |
Het |
| Tas2r143 |
T |
C |
6: 42,377,694 (GRCm39) |
Y175H |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,989,693 (GRCm39) |
S502P |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,333,947 (GRCm39) |
H142R |
probably damaging |
Het |
| Tmem44 |
A |
G |
16: 30,333,651 (GRCm39) |
|
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Umod |
A |
G |
7: 119,063,964 (GRCm39) |
V614A |
possibly damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
| Wdr37 |
A |
T |
13: 8,855,876 (GRCm39) |
I489N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,246,831 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,220,272 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or8k41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Or8k41
|
APN |
2 |
86,313,562 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02136:Or8k41
|
APN |
2 |
86,313,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02419:Or8k41
|
APN |
2 |
86,313,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03008:Or8k41
|
APN |
2 |
86,313,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Or8k41
|
UTSW |
2 |
86,313,730 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0240:Or8k41
|
UTSW |
2 |
86,313,730 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1163:Or8k41
|
UTSW |
2 |
86,313,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1505:Or8k41
|
UTSW |
2 |
86,313,557 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1806:Or8k41
|
UTSW |
2 |
86,313,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1940:Or8k41
|
UTSW |
2 |
86,313,703 (GRCm39) |
nonsense |
probably null |
|
|
R3025:Or8k41
|
UTSW |
2 |
86,314,083 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R3037:Or8k41
|
UTSW |
2 |
86,313,987 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5156:Or8k41
|
UTSW |
2 |
86,313,362 (GRCm39) |
nonsense |
probably null |
|
|
R6459:Or8k41
|
UTSW |
2 |
86,313,573 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6472:Or8k41
|
UTSW |
2 |
86,313,534 (GRCm39) |
nonsense |
probably null |
|
|
R6493:Or8k41
|
UTSW |
2 |
86,313,565 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6880:Or8k41
|
UTSW |
2 |
86,314,069 (GRCm39) |
missense |
probably benign |
|
|
R7283:Or8k41
|
UTSW |
2 |
86,313,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8113:Or8k41
|
UTSW |
2 |
86,313,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9799:Or8k41
|
UTSW |
2 |
86,313,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Or8k41
|
UTSW |
2 |
86,313,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATAGCGGTCATAAGACATTGCAGACA -3'
(R):5'- TGAGACTGGATGACTTCTTGCCTAGAT -3'
Sequencing Primer
(F):5'- AACCAAGGTCAGTAGTAGCG -3'
(R):5'- TGGATGACTTCTTGCCTAGATATTAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation