Incidental Mutation 'R4002:Or10al7'
| ID |
311326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10al7
|
| Ensembl Gene |
ENSMUSG00000081724 |
| Gene Name |
olfactory receptor family 10 subfamily AL member 7 |
| Synonyms |
MOR263-9, GA_x6K02T2PSCP-2503741-2502776, Olfr129 |
| MMRRC Submission |
041609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R4002 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
38365490-38370675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38365879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 193
(L193F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122318]
[ENSMUST00000174675]
[ENSMUST00000216476]
|
| AlphaFold |
Q8VEY1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122318
AA Change: L202F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113564
Gene: ENSMUSG00000081724
AA Change: L202F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
46 |
323 |
4.6e-56 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
50 |
319 |
1.1e-5 |
PFAM |
|
Pfam:7tm_1
|
56 |
305 |
3.2e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174675
AA Change: L193F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133865
Gene: ENSMUSG00000060017
AA Change: L193F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216476
AA Change: L193F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (29/30) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,274,964 (GRCm39) |
N222K |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,535,415 (GRCm39) |
M4680L |
probably benign |
Het |
| Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
| Afdn |
T |
C |
17: 14,104,179 (GRCm39) |
S1157P |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,629,479 (GRCm39) |
T63A |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,801,176 (GRCm39) |
|
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,383,048 (GRCm39) |
L277I |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,093 (GRCm39) |
D431V |
probably damaging |
Het |
| Dbx1 |
T |
C |
7: 49,286,265 (GRCm39) |
S67G |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,381,116 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,670,840 (GRCm39) |
T471S |
probably benign |
Het |
| Efcab8 |
A |
T |
2: 153,623,726 (GRCm39) |
K70N |
probably benign |
Het |
| Grcc10 |
A |
T |
6: 124,717,933 (GRCm39) |
M1K |
probably null |
Het |
| Higd2a |
G |
C |
13: 54,738,540 (GRCm39) |
C53S |
probably damaging |
Het |
| Kcna4 |
C |
T |
2: 107,126,259 (GRCm39) |
P331L |
probably damaging |
Het |
| Keg1 |
T |
A |
19: 12,696,307 (GRCm39) |
S164T |
possibly damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,617,154 (GRCm39) |
V1031A |
probably benign |
Het |
| Obsl1 |
G |
A |
1: 75,476,743 (GRCm39) |
T737I |
possibly damaging |
Het |
| Or7g33 |
C |
T |
9: 19,449,202 (GRCm39) |
R8K |
probably benign |
Het |
| Or7g35 |
T |
G |
9: 19,496,010 (GRCm39) |
M59R |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,854,630 (GRCm39) |
M202V |
probably damaging |
Het |
| Tcf19 |
A |
G |
17: 35,826,822 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
T |
C |
14: 50,599,984 (GRCm39) |
F657L |
probably benign |
Het |
| Ttf2 |
G |
A |
3: 100,855,541 (GRCm39) |
Q96* |
probably null |
Het |
| Ube2frt |
G |
A |
12: 36,140,635 (GRCm39) |
|
probably benign |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfp810 |
C |
T |
9: 22,190,188 (GRCm39) |
C240Y |
probably damaging |
Het |
|
| Other mutations in Or10al7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02140:Or10al7
|
APN |
17 |
38,366,481 (GRCm39) |
start codon destroyed |
probably null |
0.15 |
|
IGL02163:Or10al7
|
APN |
17 |
38,365,641 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02374:Or10al7
|
APN |
17 |
38,366,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0840:Or10al7
|
UTSW |
17 |
38,366,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1774:Or10al7
|
UTSW |
17 |
38,366,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3720:Or10al7
|
UTSW |
17 |
38,366,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3794:Or10al7
|
UTSW |
17 |
38,365,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3840:Or10al7
|
UTSW |
17 |
38,366,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4273:Or10al7
|
UTSW |
17 |
38,366,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Or10al7
|
UTSW |
17 |
38,366,467 (GRCm39) |
missense |
probably benign |
|
|
R5606:Or10al7
|
UTSW |
17 |
38,365,693 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6309:Or10al7
|
UTSW |
17 |
38,366,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Or10al7
|
UTSW |
17 |
38,366,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Or10al7
|
UTSW |
17 |
38,366,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7829:Or10al7
|
UTSW |
17 |
38,366,220 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8103:Or10al7
|
UTSW |
17 |
38,365,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8994:Or10al7
|
UTSW |
17 |
38,366,220 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9388:Or10al7
|
UTSW |
17 |
38,366,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGGTGAGTGGCTAGAC -3'
(R):5'- ATAACTGAGTGCTGCCTACTGG -3'
Sequencing Primer
(F):5'- GGGCCTCAAGTAGTTAATAGATCCTG -3'
(R):5'- ACCGCTGCATGGCCATATG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation