Incidental Mutation 'R8040:Or6x1'
| ID |
618473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6x1
|
| Ensembl Gene |
ENSMUSG00000051095 |
| Gene Name |
olfactory receptor family 6 subfamily X member 1 |
| Synonyms |
MOR104-3, GA_x6K02T2PVTD-33886895-33887833, Olfr986 |
| MMRRC Submission |
067477-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R8040 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40098375-40099390 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40098717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 102
(H102R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026693]
[ENSMUST00000062229]
[ENSMUST00000168691]
[ENSMUST00000168832]
[ENSMUST00000214763]
[ENSMUST00000216720]
[ENSMUST00000218134]
|
| AlphaFold |
Q8VFN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026693
|
| SMART Domains |
Protein: ENSMUSP00000026693
Gene: ENSMUSG00000025602
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
42 |
154 |
1.19e-75 |
SMART |
|
KRAB
|
237 |
297 |
1.7e-17 |
SMART |
|
ZnF_C2H2
|
391 |
413 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
419 |
441 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
557 |
579 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
613 |
635 |
3.39e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062229
AA Change: H102R
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056713
Gene: ENSMUSG00000051095
AA Change: H102R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
5.1e-54 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
3.7e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168691
|
| SMART Domains |
Protein: ENSMUSP00000130163
Gene: ENSMUSG00000025602
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
42 |
132 |
1.03e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168832
|
| SMART Domains |
Protein: ENSMUSP00000132131
Gene: ENSMUSG00000025602
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
42 |
154 |
1.19e-75 |
SMART |
|
KRAB
|
237 |
277 |
5.32e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214763
AA Change: H102R
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216720
AA Change: H102R
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218134
AA Change: H102R
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.3411 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,765,035 (GRCm39) |
D675V |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,607,211 (GRCm39) |
R184G |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,379,593 (GRCm39) |
K952E |
probably damaging |
Het |
| Allc |
A |
T |
12: 28,605,351 (GRCm39) |
I316N |
probably damaging |
Het |
| Ano8 |
T |
C |
8: 71,934,812 (GRCm39) |
T432A |
probably benign |
Het |
| Cadps2 |
C |
A |
6: 23,412,942 (GRCm39) |
|
probably benign |
Het |
| Camsap2 |
T |
C |
1: 136,208,985 (GRCm39) |
S168G |
|
Het |
| Ccl19 |
T |
C |
4: 42,756,297 (GRCm39) |
S12G |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,140,733 (GRCm39) |
S407P |
possibly damaging |
Het |
| Cltc |
A |
G |
11: 86,616,031 (GRCm39) |
S412P |
probably damaging |
Het |
| Cwc25 |
A |
G |
11: 97,641,696 (GRCm39) |
|
probably null |
Het |
| Cxcr4 |
A |
G |
1: 128,517,535 (GRCm39) |
F42S |
probably damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,183,412 (GRCm39) |
Q177R |
probably benign |
Het |
| Dnal4 |
T |
C |
15: 79,646,169 (GRCm39) |
T112A |
probably benign |
Het |
| Dock9 |
C |
A |
14: 121,889,206 (GRCm39) |
G304C |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,113,758 (GRCm39) |
T1311A |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,035,815 (GRCm39) |
Y3156H |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,733,841 (GRCm39) |
I1070M |
possibly damaging |
Het |
| Hcls1 |
A |
G |
16: 36,771,511 (GRCm39) |
D139G |
probably damaging |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,390 (GRCm39) |
S26P |
probably benign |
Het |
| Il1r1 |
A |
T |
1: 40,352,509 (GRCm39) |
T563S |
probably benign |
Het |
| Kcna1 |
C |
T |
6: 126,619,703 (GRCm39) |
D206N |
probably benign |
Het |
| Kcnk4 |
A |
G |
19: 6,904,995 (GRCm39) |
Y219H |
probably damaging |
Het |
| Kcnt2 |
G |
A |
1: 140,377,955 (GRCm39) |
A403T |
probably damaging |
Het |
| Mdp1 |
T |
A |
14: 55,897,523 (GRCm39) |
N44I |
probably benign |
Het |
| Nceh1 |
A |
G |
3: 27,295,374 (GRCm39) |
N212D |
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,108,982 (GRCm39) |
G1363D |
probably benign |
Het |
| Or5d20-ps1 |
T |
A |
2: 87,931,703 (GRCm39) |
R209S |
unknown |
Het |
| Or6n1 |
T |
C |
1: 173,916,723 (GRCm39) |
I39T |
possibly damaging |
Het |
| Or8d1 |
T |
A |
9: 38,766,460 (GRCm39) |
I34N |
probably damaging |
Het |
| Parp2 |
T |
A |
14: 51,047,630 (GRCm39) |
M47K |
probably benign |
Het |
| Pfdn6 |
T |
C |
17: 34,158,951 (GRCm39) |
|
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plb1 |
T |
A |
5: 32,430,413 (GRCm39) |
H123Q |
possibly damaging |
Het |
| Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,205,836 (GRCm39) |
D238G |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,508,792 (GRCm39) |
S905T |
probably benign |
Het |
| Sclt1 |
C |
T |
3: 41,611,811 (GRCm39) |
R487H |
probably damaging |
Het |
| Serpina3b |
A |
G |
12: 104,097,335 (GRCm39) |
I205M |
probably benign |
Het |
| Sowahb |
A |
G |
5: 93,191,292 (GRCm39) |
S476P |
possibly damaging |
Het |
| Srgap3 |
C |
T |
6: 112,716,325 (GRCm39) |
R625H |
probably benign |
Het |
| Tent4a |
A |
G |
13: 69,648,600 (GRCm39) |
Y719H |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,935,532 (GRCm39) |
Y2611H |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,250,554 (GRCm39) |
E237G |
possibly damaging |
Het |
| Vmn1r87 |
T |
A |
7: 12,866,086 (GRCm39) |
Y67F |
possibly damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,808 (GRCm39) |
C787Y |
probably damaging |
Het |
| Zscan4-ps3 |
T |
A |
7: 11,346,600 (GRCm39) |
I212N |
probably damaging |
Het |
|
| Other mutations in Or6x1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01063:Or6x1
|
APN |
9 |
40,099,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02342:Or6x1
|
APN |
9 |
40,098,823 (GRCm39) |
missense |
probably benign |
|
|
IGL02961:Or6x1
|
APN |
9 |
40,098,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0379:Or6x1
|
UTSW |
9 |
40,098,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1411:Or6x1
|
UTSW |
9 |
40,098,435 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1712:Or6x1
|
UTSW |
9 |
40,099,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Or6x1
|
UTSW |
9 |
40,098,558 (GRCm39) |
missense |
probably benign |
|
|
R2249:Or6x1
|
UTSW |
9 |
40,098,980 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R3162:Or6x1
|
UTSW |
9 |
40,098,901 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3162:Or6x1
|
UTSW |
9 |
40,098,901 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5071:Or6x1
|
UTSW |
9 |
40,098,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5464:Or6x1
|
UTSW |
9 |
40,099,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Or6x1
|
UTSW |
9 |
40,099,005 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5695:Or6x1
|
UTSW |
9 |
40,098,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5878:Or6x1
|
UTSW |
9 |
40,098,867 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6978:Or6x1
|
UTSW |
9 |
40,099,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7252:Or6x1
|
UTSW |
9 |
40,098,657 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8410:Or6x1
|
UTSW |
9 |
40,098,732 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8726:Or6x1
|
UTSW |
9 |
40,098,663 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8829:Or6x1
|
UTSW |
9 |
40,099,209 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCGGGCAATGGACTCATTATTG -3'
(R):5'- TGACATTGTTGCCACAGAATG -3'
Sequencing Primer
(F):5'- GGCAATGGACTCATTATTGTCATTG -3'
(R):5'- GGCAACTGTACAATCAGCATTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation