Incidental Mutation 'R3855:Or2y10'
| ID |
276123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2y10
|
| Ensembl Gene |
ENSMUSG00000107645 |
| Gene Name |
olfactory receptor family 2 subfamily Y member 10 |
| Synonyms |
GA_x6K02T2QP88-5871967-5871032, MOR256-66_i, Olfr1380 |
| MMRRC Submission |
040901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R3855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
49454750-49455685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49454918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 57
(T57A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204300]
[ENSMUST00000215360]
|
| AlphaFold |
Q7TQT5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071426
AA Change: T57A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071373
Gene: ENSMUSG00000091308
AA Change: T57A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
5.4e-47 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
9.6e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188518
AA Change: T57A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140977
Gene: ENSMUSG00000100997
AA Change: T57A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
289 |
1.5e-31 |
PFAM |
|
Pfam:7tm_4
|
139 |
282 |
1.4e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204300
AA Change: T57A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145428
Gene: ENSMUSG00000107645
AA Change: T57A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
5.4e-47 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
9.6e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215360
AA Change: T57A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.4050 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
98% (45/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
A |
T |
4: 63,291,705 (GRCm39) |
S1144R |
probably damaging |
Het |
| Apbb1ip |
T |
C |
2: 22,765,187 (GRCm39) |
S623P |
unknown |
Het |
| Apex1 |
A |
G |
14: 51,163,714 (GRCm39) |
T109A |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,618,697 (GRCm39) |
G107S |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,013 (GRCm39) |
N159S |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,983,543 (GRCm39) |
|
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,256,742 (GRCm39) |
|
probably null |
Het |
| Dennd4c |
G |
A |
4: 86,698,084 (GRCm39) |
V191M |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,984,472 (GRCm39) |
H392Q |
probably benign |
Het |
| Dthd1 |
T |
C |
5: 63,045,366 (GRCm39) |
V710A |
probably benign |
Het |
| Galnt7 |
T |
C |
8: 57,985,658 (GRCm39) |
|
probably benign |
Het |
| Gm4868 |
A |
G |
5: 125,925,609 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
T |
C |
11: 97,232,260 (GRCm39) |
E648G |
probably damaging |
Het |
| Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
| Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
| Itgb3bp |
T |
C |
4: 99,686,957 (GRCm39) |
E76G |
possibly damaging |
Het |
| Khk |
A |
G |
5: 31,084,401 (GRCm39) |
D82G |
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,018,821 (GRCm39) |
S533G |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,741,796 (GRCm39) |
|
probably benign |
Het |
| Kmt5c |
T |
C |
7: 4,749,255 (GRCm39) |
F104S |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Mdh1 |
C |
T |
11: 21,509,281 (GRCm39) |
V234I |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,329,415 (GRCm39) |
I120N |
possibly damaging |
Het |
| Nfia |
A |
G |
4: 97,951,259 (GRCm39) |
H362R |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
| Nme5 |
A |
G |
18: 34,702,884 (GRCm39) |
S135P |
possibly damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,583,715 (GRCm39) |
V543A |
probably damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,835 (GRCm39) |
I204F |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,923,184 (GRCm39) |
S1020P |
possibly damaging |
Het |
| Pear1 |
T |
C |
3: 87,659,228 (GRCm39) |
H814R |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,915,047 (GRCm39) |
|
probably null |
Het |
| Pla2g4a |
T |
A |
1: 149,705,928 (GRCm39) |
I711F |
possibly damaging |
Het |
| Ppig |
G |
A |
2: 69,579,719 (GRCm39) |
V418I |
unknown |
Het |
| Prg4 |
T |
C |
1: 150,327,751 (GRCm39) |
Y234C |
probably damaging |
Het |
| Prmt9 |
G |
A |
8: 78,294,894 (GRCm39) |
V413I |
probably benign |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sepsecs |
G |
A |
5: 52,821,616 (GRCm39) |
R74C |
probably damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,411,125 (GRCm39) |
V580A |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,785,361 (GRCm39) |
|
probably benign |
Het |
| Sox11 |
C |
A |
12: 27,391,501 (GRCm39) |
G303C |
probably damaging |
Het |
| Usp54 |
C |
A |
14: 20,638,488 (GRCm39) |
M197I |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,311,665 (GRCm39) |
F95L |
probably benign |
Het |
| Xylt1 |
T |
G |
7: 117,192,777 (GRCm39) |
L361R |
probably damaging |
Het |
| Zfp512 |
A |
G |
5: 31,637,593 (GRCm39) |
R505G |
possibly damaging |
Het |
|
| Other mutations in Or2y10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Or2y10
|
APN |
11 |
49,454,747 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01354:Or2y10
|
APN |
11 |
49,455,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0183:Or2y10
|
UTSW |
11 |
49,455,675 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0849:Or2y10
|
UTSW |
11 |
49,455,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3904:Or2y10
|
UTSW |
11 |
49,455,585 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4598:Or2y10
|
UTSW |
11 |
49,455,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4599:Or2y10
|
UTSW |
11 |
49,455,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5089:Or2y10
|
UTSW |
11 |
49,455,240 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6029:Or2y10
|
UTSW |
11 |
49,455,428 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6551:Or2y10
|
UTSW |
11 |
49,454,816 (GRCm39) |
missense |
probably benign |
|
|
R6953:Or2y10
|
UTSW |
11 |
49,455,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Or2y10
|
UTSW |
11 |
49,454,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7343:Or2y10
|
UTSW |
11 |
49,455,329 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7725:Or2y10
|
UTSW |
11 |
49,455,359 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7762:Or2y10
|
UTSW |
11 |
49,455,588 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8881:Or2y10
|
UTSW |
11 |
49,455,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9361:Or2y10
|
UTSW |
11 |
49,455,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9380:Or2y10
|
UTSW |
11 |
49,454,904 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9421:Or2y10
|
UTSW |
11 |
49,455,201 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9733:Or2y10
|
UTSW |
11 |
49,454,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCACAGGTGAAAGACTATGG -3'
(R):5'- GTGACACACAGCAGCATAGC -3'
Sequencing Primer
(F):5'- AAGACTATGGAATATTTGAACACCAG -3'
(R):5'- GCAGCATAGCGATCTATAGCCATTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation