Incidental Mutation 'R2865:Or8h10'
| ID |
253140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8h10
|
| Ensembl Gene |
ENSMUSG00000070875 |
| Gene Name |
olfactory receptor family 8 subfamily H member 10 |
| Synonyms |
Olfr1100, GA_x6K02T2Q125-48465387-48464422, MOR206-4 |
| MMRRC Submission |
040454-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R2865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
86808173-86809138 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86808805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 112
(C112S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094913]
[ENSMUST00000117211]
|
| AlphaFold |
Q8VFM1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094913
AA Change: C112S
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092517
Gene: ENSMUSG00000070875
AA Change: C112S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.7e-51 |
PFAM |
|
Pfam:7tm_1
|
41 |
314 |
2.3e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117211
AA Change: C112S
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.6350 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (30/30) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
G |
8: 12,329,635 (GRCm39) |
Q30R |
unknown |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Cic |
T |
A |
7: 24,972,646 (GRCm39) |
D792E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,537,343 (GRCm39) |
C192Y |
probably benign |
Het |
| Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,059,543 (GRCm39) |
K714R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,531,431 (GRCm39) |
Q844R |
possibly damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,170,117 (GRCm39) |
K495E |
probably benign |
Het |
| Gria2 |
C |
T |
3: 80,639,392 (GRCm39) |
V207I |
probably benign |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,905,611 (GRCm39) |
H2240R |
probably damaging |
Het |
| Ighv8-9 |
G |
A |
12: 115,432,066 (GRCm39) |
P82S |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,310,525 (GRCm39) |
V436A |
probably benign |
Het |
| Ldb3 |
T |
G |
14: 34,251,460 (GRCm39) |
D609A |
probably damaging |
Het |
| Lgalsl2 |
G |
T |
7: 5,362,668 (GRCm39) |
D100Y |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,335 (GRCm39) |
Q112K |
probably damaging |
Het |
| Marchf4 |
C |
T |
1: 72,491,734 (GRCm39) |
R179H |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,960,788 (GRCm39) |
T75A |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,198 (GRCm39) |
D34V |
probably benign |
Het |
| Parp4 |
C |
T |
14: 56,851,181 (GRCm39) |
T728M |
probably damaging |
Het |
| Ppp1r10 |
A |
G |
17: 36,239,384 (GRCm39) |
T398A |
possibly damaging |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,085,990 (GRCm39) |
G482D |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,991,765 (GRCm39) |
F388I |
probably benign |
Het |
| Slc12a6 |
G |
A |
2: 112,177,662 (GRCm39) |
V594I |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,836,942 (GRCm39) |
S134F |
probably damaging |
Het |
| Tead4 |
A |
T |
6: 128,225,062 (GRCm39) |
|
probably null |
Het |
| Usp40 |
G |
A |
1: 87,877,701 (GRCm39) |
Q1152* |
probably null |
Het |
|
| Other mutations in Or8h10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02387:Or8h10
|
APN |
2 |
86,808,193 (GRCm39) |
nonsense |
probably null |
|
|
R0102:Or8h10
|
UTSW |
2 |
86,808,549 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0477:Or8h10
|
UTSW |
2 |
86,808,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0586:Or8h10
|
UTSW |
2 |
86,809,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0743:Or8h10
|
UTSW |
2 |
86,808,843 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1163:Or8h10
|
UTSW |
2 |
86,809,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Or8h10
|
UTSW |
2 |
86,808,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4478:Or8h10
|
UTSW |
2 |
86,808,562 (GRCm39) |
missense |
probably benign |
|
|
R4548:Or8h10
|
UTSW |
2 |
86,809,014 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4618:Or8h10
|
UTSW |
2 |
86,808,618 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4829:Or8h10
|
UTSW |
2 |
86,808,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4858:Or8h10
|
UTSW |
2 |
86,808,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Or8h10
|
UTSW |
2 |
86,808,666 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5072:Or8h10
|
UTSW |
2 |
86,808,666 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5073:Or8h10
|
UTSW |
2 |
86,808,666 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5074:Or8h10
|
UTSW |
2 |
86,808,666 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5574:Or8h10
|
UTSW |
2 |
86,808,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5735:Or8h10
|
UTSW |
2 |
86,809,044 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5874:Or8h10
|
UTSW |
2 |
86,808,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6228:Or8h10
|
UTSW |
2 |
86,809,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6689:Or8h10
|
UTSW |
2 |
86,808,498 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6979:Or8h10
|
UTSW |
2 |
86,808,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7006:Or8h10
|
UTSW |
2 |
86,808,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7274:Or8h10
|
UTSW |
2 |
86,808,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7399:Or8h10
|
UTSW |
2 |
86,808,501 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7560:Or8h10
|
UTSW |
2 |
86,809,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7765:Or8h10
|
UTSW |
2 |
86,808,538 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8381:Or8h10
|
UTSW |
2 |
86,808,373 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8390:Or8h10
|
UTSW |
2 |
86,808,501 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8694:Or8h10
|
UTSW |
2 |
86,808,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGATGAATTACCTTGGTTCTGC -3'
(R):5'- GGCATGATGCTGATCATTCGTC -3'
Sequencing Primer
(F):5'- CCTTGGTTCTGCAGAAATATAAGGTG -3'
(R):5'- GCTGATCATTCGTCTAGATGCTCAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation