Incidental Mutation 'R8380:Or10q1b'
| ID |
646924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10q1b
|
| Ensembl Gene |
ENSMUSG00000051156 |
| Gene Name |
olfactory receptor family 10 subfamily Q member 1B |
| Synonyms |
MOR266-8, Olfr1491, GA_x6K02T2RE5P-4037809-4038768 |
| MMRRC Submission |
067747-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8380 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
13682193-13683152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13682608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 139
(I139T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052737]
[ENSMUST00000214007]
[ENSMUST00000215493]
[ENSMUST00000216366]
[ENSMUST00000216377]
[ENSMUST00000216622]
|
| AlphaFold |
Q8VEZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052737
AA Change: I139T
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000057902
Gene: ENSMUSG00000051156
AA Change: I139T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
314 |
3.3e-52 |
PFAM |
|
Pfam:7tm_1
|
45 |
295 |
5.9e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214007
AA Change: I139T
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215493
AA Change: I139T
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216366
AA Change: I139T
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216377
AA Change: I139T
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216622
AA Change: I139T
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
C |
T |
14: 66,275,006 (GRCm39) |
V576I |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,995,219 (GRCm39) |
V5501A |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,250,467 (GRCm39) |
T426A |
probably benign |
Het |
| Armc7 |
G |
T |
11: 115,366,726 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
A |
G |
8: 69,556,042 (GRCm39) |
E239G |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,503,191 (GRCm39) |
D171G |
probably benign |
Het |
| Cenpc1 |
C |
A |
5: 86,194,275 (GRCm39) |
A164S |
probably benign |
Het |
| Cep131 |
T |
A |
11: 119,967,854 (GRCm39) |
R134W |
probably damaging |
Het |
| Chek1 |
T |
A |
9: 36,623,408 (GRCm39) |
N422I |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,531,651 (GRCm39) |
E718G |
probably damaging |
Het |
| Cyp2c70 |
C |
T |
19: 40,175,669 (GRCm39) |
C13Y |
probably benign |
Het |
| Dhx40 |
G |
A |
11: 86,697,411 (GRCm39) |
T52M |
probably damaging |
Het |
| Dnhd1 |
G |
T |
7: 105,327,073 (GRCm39) |
R674L |
probably benign |
Het |
| Lrrc36 |
T |
A |
8: 106,153,460 (GRCm39) |
V90E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,087,823 (GRCm39) |
Y5459H |
probably benign |
Het |
| Nt5c2 |
A |
T |
19: 46,877,489 (GRCm39) |
M484K |
probably damaging |
Het |
| Or10c1 |
T |
A |
17: 37,522,232 (GRCm39) |
N171Y |
possibly damaging |
Het |
| Or11g26 |
T |
C |
14: 50,753,297 (GRCm39) |
V212A |
probably benign |
Het |
| Papss1 |
C |
T |
3: 131,337,456 (GRCm39) |
P539L |
probably damaging |
Het |
| Pdlim3 |
A |
T |
8: 46,370,572 (GRCm39) |
M243L |
probably benign |
Het |
| Pls1 |
G |
A |
9: 95,657,438 (GRCm39) |
H303Y |
probably benign |
Het |
| Pomt1 |
A |
G |
2: 32,135,619 (GRCm39) |
T328A |
probably damaging |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Scaf4 |
A |
G |
16: 90,057,133 (GRCm39) |
S73P |
unknown |
Het |
| Snrpa |
G |
T |
7: 26,886,713 (GRCm39) |
Q261K |
possibly damaging |
Het |
| Top1 |
A |
G |
2: 160,559,315 (GRCm39) |
N613D |
probably benign |
Het |
| Vill |
A |
G |
9: 118,886,917 (GRCm39) |
T21A |
probably benign |
Het |
| Wdr1 |
C |
G |
5: 38,697,864 (GRCm39) |
D234H |
possibly damaging |
Het |
|
| Other mutations in Or10q1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Or10q1b
|
APN |
19 |
13,683,096 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02713:Or10q1b
|
APN |
19 |
13,682,553 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02822:Or10q1b
|
APN |
19 |
13,683,019 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0083:Or10q1b
|
UTSW |
19 |
13,683,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0108:Or10q1b
|
UTSW |
19 |
13,683,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0271:Or10q1b
|
UTSW |
19 |
13,682,499 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1364:Or10q1b
|
UTSW |
19 |
13,682,809 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1538:Or10q1b
|
UTSW |
19 |
13,682,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Or10q1b
|
UTSW |
19 |
13,682,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1579:Or10q1b
|
UTSW |
19 |
13,682,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2179:Or10q1b
|
UTSW |
19 |
13,682,758 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4393:Or10q1b
|
UTSW |
19 |
13,682,554 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5837:Or10q1b
|
UTSW |
19 |
13,682,324 (GRCm39) |
nonsense |
probably null |
|
|
R6001:Or10q1b
|
UTSW |
19 |
13,682,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8064:Or10q1b
|
UTSW |
19 |
13,682,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8132:Or10q1b
|
UTSW |
19 |
13,682,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8294:Or10q1b
|
UTSW |
19 |
13,683,010 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9608:Or10q1b
|
UTSW |
19 |
13,682,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or10q1b
|
UTSW |
19 |
13,682,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGTGGTACCCCTGATGCTTTC -3'
(R):5'- AATGGGACTGTCAGCACCAG -3'
Sequencing Primer
(F):5'- TCTAACATCTTTGGGACCCAGAAG -3'
(R):5'- CTGGTGCACATGAATGTCAGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation