Incidental Mutation 'R1017:Or8k27'
| ID |
96386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8k27
|
| Ensembl Gene |
ENSMUSG00000111306 |
| Gene Name |
olfactory receptor family 8 subfamily K member 27 |
| Synonyms |
Olfr1065, GA_x6K02T2Q125-47915274-47914333, MOR190-1 |
| MMRRC Submission |
039121-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R1017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
86275357-86276348 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86275772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 185
(L185I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000213789]
[ENSMUST00000216162]
[ENSMUST00000216165]
[ENSMUST00000217586]
|
| AlphaFold |
Q7TR70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099886
AA Change: L185I
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000097471
Gene: ENSMUSG00000075182
AA Change: L185I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
3.1e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213789
AA Change: L185I
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216162
AA Change: L185I
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216165
AA Change: L185I
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217586
AA Change: L185I
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.1008 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (47/48) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
C |
T |
6: 125,038,223 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,987,907 (GRCm39) |
I3064F |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,242,617 (GRCm39) |
R884L |
probably damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,145,443 (GRCm39) |
F317L |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,077,021 (GRCm39) |
I358N |
probably damaging |
Het |
| Ccin |
A |
G |
4: 43,985,222 (GRCm39) |
D543G |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,167,572 (GRCm39) |
D1806V |
probably damaging |
Het |
| Cdh6 |
C |
T |
15: 13,051,562 (GRCm39) |
R357Q |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,293,797 (GRCm39) |
M64V |
possibly damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,779,794 (GRCm39) |
F74I |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,307 (GRCm39) |
I302N |
probably damaging |
Het |
| Dnase1l2 |
C |
T |
17: 24,661,446 (GRCm39) |
A56T |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,634,633 (GRCm39) |
D190V |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,891,398 (GRCm39) |
|
probably null |
Het |
| Fscb |
T |
A |
12: 64,520,242 (GRCm39) |
D408V |
probably benign |
Het |
| Gm10306 |
A |
G |
4: 94,444,957 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,765,803 (GRCm39) |
M409K |
probably benign |
Het |
| Gsx2 |
T |
C |
5: 75,237,923 (GRCm39) |
S292P |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,718,097 (GRCm39) |
|
probably null |
Het |
| Hoxa3 |
G |
T |
6: 52,149,386 (GRCm39) |
|
probably null |
Het |
| Irak3 |
T |
C |
10: 119,978,789 (GRCm39) |
E554G |
possibly damaging |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
C |
T |
8: 95,832,413 (GRCm39) |
D379N |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,837,213 (GRCm39) |
V1032A |
probably damaging |
Het |
| Lmln |
T |
G |
16: 32,908,546 (GRCm39) |
I324R |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,005,501 (GRCm39) |
S1547P |
possibly damaging |
Het |
| Mdga1 |
T |
A |
17: 30,069,522 (GRCm39) |
T175S |
probably damaging |
Het |
| Mrps6 |
T |
A |
16: 91,855,346 (GRCm39) |
L8* |
probably null |
Het |
| Mtmr11 |
A |
C |
3: 96,071,794 (GRCm39) |
T203P |
probably damaging |
Het |
| Nat8f7 |
T |
C |
6: 85,684,552 (GRCm39) |
D96G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,889,179 (GRCm39) |
E7531G |
unknown |
Het |
| Or2k2 |
A |
T |
4: 58,785,115 (GRCm39) |
S202R |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,855 (GRCm39) |
D180E |
probably damaging |
Het |
| Osbpl6 |
A |
G |
2: 76,380,063 (GRCm39) |
Y69C |
probably damaging |
Het |
| Polrmt |
C |
T |
10: 79,579,343 (GRCm39) |
W136* |
probably null |
Het |
| Raver1 |
T |
C |
9: 20,990,886 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,021,116 (GRCm39) |
K2E |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,107,107 (GRCm39) |
T417I |
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,710,117 (GRCm39) |
K388R |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,583,277 (GRCm39) |
R88G |
probably damaging |
Het |
| Vldlr |
A |
C |
19: 27,218,733 (GRCm39) |
Y528S |
probably damaging |
Het |
| Zdhhc14 |
T |
A |
17: 5,543,924 (GRCm39) |
L68H |
probably damaging |
Het |
| Zfp605 |
C |
T |
5: 110,275,860 (GRCm39) |
T326I |
probably benign |
Het |
|
| Other mutations in Or8k27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03133:Or8k27
|
APN |
2 |
86,276,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03173:Or8k27
|
APN |
2 |
86,275,788 (GRCm39) |
nonsense |
probably null |
|
|
IGL03257:Or8k27
|
APN |
2 |
86,276,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
D4043:Or8k27
|
UTSW |
2 |
86,275,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0265:Or8k27
|
UTSW |
2 |
86,276,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0550:Or8k27
|
UTSW |
2 |
86,276,220 (GRCm39) |
nonsense |
probably null |
|
|
R0633:Or8k27
|
UTSW |
2 |
86,275,473 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0727:Or8k27
|
UTSW |
2 |
86,276,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1416:Or8k27
|
UTSW |
2 |
86,275,664 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1657:Or8k27
|
UTSW |
2 |
86,275,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Or8k27
|
UTSW |
2 |
86,275,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3919:Or8k27
|
UTSW |
2 |
86,275,762 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4345:Or8k27
|
UTSW |
2 |
86,276,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5382:Or8k27
|
UTSW |
2 |
86,275,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5757:Or8k27
|
UTSW |
2 |
86,275,922 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6530:Or8k27
|
UTSW |
2 |
86,275,826 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6765:Or8k27
|
UTSW |
2 |
86,275,580 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6856:Or8k27
|
UTSW |
2 |
86,276,251 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7156:Or8k27
|
UTSW |
2 |
86,275,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8239:Or8k27
|
UTSW |
2 |
86,275,473 (GRCm39) |
missense |
noncoding transcript |
|
|
R8338:Or8k27
|
UTSW |
2 |
86,275,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8909:Or8k27
|
UTSW |
2 |
86,276,082 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9469:Or8k27
|
UTSW |
2 |
86,275,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCTCAGCAGAGTTCATCCTAAG -3'
(R):5'- AGACACCTCGCTACTACTGACCTTG -3'
Sequencing Primer
(F):5'- CAGCAGAGTTCATCCTAAGTATAGC -3'
(R):5'- GCAATGTCCTATGACCGCTATG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation