Incidental Mutation 'R6511:Olfr1006'
| ID |
519902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfr1006
|
| Ensembl Gene |
ENSMUSG00000075211 |
| Gene Name |
olfactory receptor 1006 |
| Synonyms |
MOR213-4, GA_x6K02T2Q125-47154544-47153606 |
| MMRRC Submission |
044639-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
85673657-85678767 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85674840 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 104
(S104P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099917]
[ENSMUST00000216084]
|
| AlphaFold |
A2ALD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099917
AA Change: S104P
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097501
Gene: ENSMUSG00000075211
AA Change: S104P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
39 |
315 |
1.3e-51 |
PFAM |
|
Pfam:7tm_1
|
49 |
298 |
3.6e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216084
AA Change: S104P
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216207
|
| Meta Mutation Damage Score |
0.0769 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
100% (39/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,376,594 (GRCm38) |
H718Y |
probably damaging |
Het |
| Abcc8 |
G |
A |
7: 46,150,861 (GRCm38) |
T499I |
possibly damaging |
Het |
| Azin2 |
C |
A |
4: 128,934,466 (GRCm38) |
R316L |
probably damaging |
Het |
| Cep85l |
C |
T |
10: 53,278,092 (GRCm38) |
V702I |
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,617,220 (GRCm38) |
C442S |
probably damaging |
Het |
| Commd3 |
G |
A |
2: 18,674,839 (GRCm38) |
G148R |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,196,308 (GRCm38) |
T1252A |
probably benign |
Het |
| Cyp4a30b |
A |
T |
4: 115,456,708 (GRCm38) |
D162V |
probably damaging |
Het |
| Exoc3l |
G |
T |
8: 105,293,255 (GRCm38) |
T346K |
probably benign |
Het |
| Gas8 |
T |
C |
8: 123,524,157 (GRCm38) |
V123A |
probably benign |
Het |
| Gm8890 |
A |
G |
5: 11,257,308 (GRCm38) |
Y51C |
probably benign |
Het |
| Hmcn2 |
T |
G |
2: 31,356,342 (GRCm38) |
D774E |
possibly damaging |
Het |
| Itga1 |
G |
T |
13: 114,992,501 (GRCm38) |
S540R |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,329,727 (GRCm38) |
N1145S |
probably damaging |
Het |
| Kcnc2 |
C |
T |
10: 112,462,067 (GRCm38) |
|
probably benign |
Het |
| Lrp5 |
G |
A |
19: 3,652,296 (GRCm38) |
R174W |
probably damaging |
Het |
| Lrrn4 |
T |
G |
2: 132,870,326 (GRCm38) |
S526R |
probably benign |
Het |
| Map3k6 |
G |
A |
4: 133,248,078 (GRCm38) |
R708H |
probably damaging |
Het |
| Mefv |
T |
C |
16: 3,715,946 (GRCm38) |
T154A |
probably benign |
Het |
| Mkl2 |
T |
A |
16: 13,379,850 (GRCm38) |
S66R |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,536,949 (GRCm38) |
A320S |
possibly damaging |
Het |
| Nos2 |
A |
G |
11: 78,955,464 (GRCm38) |
|
probably null |
Het |
| Olfr725 |
A |
G |
14: 50,034,809 (GRCm38) |
L198P |
probably damaging |
Het |
| Pip5k1c |
T |
C |
10: 81,310,817 (GRCm38) |
Y44H |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,831,567 (GRCm38) |
E972G |
probably damaging |
Het |
| Prdm12 |
T |
C |
2: 31,640,309 (GRCm38) |
S71P |
probably damaging |
Het |
| Prkag2 |
G |
T |
5: 25,100,288 (GRCm38) |
|
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,346,820 (GRCm38) |
L1467P |
probably damaging |
Het |
| Rnf43 |
G |
A |
11: 87,732,163 (GRCm38) |
V697I |
probably benign |
Het |
| Rpl7 |
C |
A |
1: 16,103,665 (GRCm38) |
A12S |
probably benign |
Het |
| Slc25a54 |
T |
G |
3: 109,094,256 (GRCm38) |
I120S |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,283,788 (GRCm38) |
H370R |
probably damaging |
Het |
| Sv2c |
C |
T |
13: 96,048,525 (GRCm38) |
V215I |
probably benign |
Het |
| Synpo2l |
T |
C |
14: 20,662,450 (GRCm38) |
E34G |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,817,392 (GRCm38) |
C703* |
probably null |
Het |
| Vmn1r158 |
T |
C |
7: 22,790,691 (GRCm38) |
K31R |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,268,463 (GRCm38) |
C558Y |
probably damaging |
Het |
| Zfp2 |
A |
T |
11: 50,900,407 (GRCm38) |
C270S |
probably damaging |
Het |
|
| Other mutations in Olfr1006 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01139:Olfr1006
|
APN |
2 |
85,674,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01520:Olfr1006
|
APN |
2 |
85,674,357 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01939:Olfr1006
|
APN |
2 |
85,674,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02060:Olfr1006
|
APN |
2 |
85,674,834 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL02171:Olfr1006
|
APN |
2 |
85,674,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03058:Olfr1006
|
APN |
2 |
85,674,681 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03210:Olfr1006
|
APN |
2 |
85,674,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB002:Olfr1006
|
UTSW |
2 |
85,674,563 (GRCm38) |
missense |
|
|
|
BB012:Olfr1006
|
UTSW |
2 |
85,674,563 (GRCm38) |
missense |
|
|
|
R0294:Olfr1006
|
UTSW |
2 |
85,674,716 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1304:Olfr1006
|
UTSW |
2 |
85,674,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1476:Olfr1006
|
UTSW |
2 |
85,674,918 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4757:Olfr1006
|
UTSW |
2 |
85,674,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4793:Olfr1006
|
UTSW |
2 |
85,674,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5804:Olfr1006
|
UTSW |
2 |
85,674,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6146:Olfr1006
|
UTSW |
2 |
85,674,594 (GRCm38) |
nonsense |
probably null |
|
|
R6896:Olfr1006
|
UTSW |
2 |
85,674,933 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7075:Olfr1006
|
UTSW |
2 |
85,674,824 (GRCm38) |
missense |
|
|
|
R7344:Olfr1006
|
UTSW |
2 |
85,674,931 (GRCm38) |
nonsense |
probably null |
|
|
R7350:Olfr1006
|
UTSW |
2 |
85,674,845 (GRCm38) |
missense |
|
|
|
R7925:Olfr1006
|
UTSW |
2 |
85,674,563 (GRCm38) |
missense |
|
|
|
R8704:Olfr1006
|
UTSW |
2 |
85,674,218 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACCACAGAAAGTTAGCCGG -3'
(R):5'- GACATTGTCAGGGAACATGTTG -3'
Sequencing Primer
(F):5'- AAGGTGTTTGCAGTATGGGC -3'
(R):5'- AACATGTTGCTGGTTGTTTTAATCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation