Incidental Mutation 'R2391:Or10q3'
| ID |
247780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10q3
|
| Ensembl Gene |
ENSMUSG00000067545 |
| Gene Name |
olfactory receptor family 10 subfamily Q member 3 |
| Synonyms |
GA_x6K02T2RE5P-2222521-2221490, Olfr1419, MOR266-10 |
| MMRRC Submission |
040359-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R2391 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
11847510-11848669 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 11848180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 133
(Y133*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087857]
[ENSMUST00000213954]
[ENSMUST00000217617]
|
| AlphaFold |
Q7TQS2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000087857
AA Change: Y133*
|
| SMART Domains |
Protein: ENSMUSP00000085163
Gene: ENSMUSG00000067545
AA Change: Y133*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
309 |
3.8e-55 |
PFAM |
|
Pfam:7tm_1
|
41 |
291 |
2.8e-22 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213954
AA Change: Y133*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217617
AA Change: Y133*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (36/36) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
T |
A |
7: 115,703,461 (GRCm39) |
D24E |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,952,071 (GRCm39) |
H689R |
probably benign |
Het |
| Acss3 |
T |
G |
10: 106,959,348 (GRCm39) |
T33P |
probably benign |
Het |
| BC005537 |
T |
A |
13: 24,993,898 (GRCm39) |
Y124* |
probably null |
Het |
| Capn2 |
T |
C |
1: 182,306,174 (GRCm39) |
D524G |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,590,965 (GRCm39) |
Y1011C |
probably damaging |
Het |
| Cdk18 |
G |
T |
1: 132,043,212 (GRCm39) |
Q438K |
probably benign |
Het |
| Cimap1d |
A |
T |
10: 79,481,484 (GRCm39) |
V15E |
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,416,214 (GRCm39) |
M1047V |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,708,198 (GRCm39) |
I1306N |
probably damaging |
Het |
| Emp2 |
A |
T |
16: 10,102,452 (GRCm39) |
I120N |
probably damaging |
Het |
| Gm2888 |
A |
T |
14: 3,037,656 (GRCm38) |
D216V |
possibly damaging |
Het |
| Naa16 |
T |
A |
14: 79,607,489 (GRCm39) |
H287L |
probably benign |
Het |
| Olfm5 |
A |
G |
7: 103,810,041 (GRCm39) |
S107P |
probably benign |
Het |
| Or51e2 |
C |
A |
7: 102,391,581 (GRCm39) |
V210F |
possibly damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,664 (GRCm39) |
V194A |
probably benign |
Het |
| Ptpn2 |
A |
T |
18: 67,808,959 (GRCm39) |
|
probably null |
Het |
| Serpinb8 |
A |
G |
1: 107,534,799 (GRCm39) |
D290G |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,450,504 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Slc6a20a |
A |
T |
9: 123,493,686 (GRCm39) |
V65E |
probably damaging |
Het |
| Spon1 |
C |
T |
7: 113,486,080 (GRCm39) |
T210M |
probably damaging |
Het |
| Sugp1 |
T |
C |
8: 70,512,061 (GRCm39) |
|
probably null |
Het |
| Tas2r143 |
C |
A |
6: 42,377,810 (GRCm39) |
H213Q |
probably damaging |
Het |
| Terf1 |
C |
A |
1: 15,875,963 (GRCm39) |
S21* |
probably null |
Het |
| Trim12a |
T |
C |
7: 103,956,138 (GRCm39) |
E134G |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
T |
C |
15: 76,258,751 (GRCm39) |
Y45C |
probably benign |
Het |
| Usp29 |
T |
A |
7: 6,966,770 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,884,764 (GRCm39) |
M46K |
possibly damaging |
Het |
| Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
| Znhit6 |
T |
C |
3: 145,300,413 (GRCm39) |
S230P |
probably damaging |
Het |
|
| Other mutations in Or10q3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01845:Or10q3
|
APN |
19 |
11,847,888 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01979:Or10q3
|
APN |
19 |
11,848,587 (GRCm39) |
splice site |
probably benign |
|
|
IGL02961:Or10q3
|
APN |
19 |
11,847,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0285:Or10q3
|
UTSW |
19 |
11,848,502 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0347:Or10q3
|
UTSW |
19 |
11,847,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1577:Or10q3
|
UTSW |
19 |
11,847,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3977:Or10q3
|
UTSW |
19 |
11,847,869 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4660:Or10q3
|
UTSW |
19 |
11,848,412 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5201:Or10q3
|
UTSW |
19 |
11,847,995 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5995:Or10q3
|
UTSW |
19 |
11,848,226 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6393:Or10q3
|
UTSW |
19 |
11,848,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Or10q3
|
UTSW |
19 |
11,847,680 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7828:Or10q3
|
UTSW |
19 |
11,848,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8400:Or10q3
|
UTSW |
19 |
11,848,578 (GRCm39) |
start codon destroyed |
probably damaging |
0.96 |
|
R9644:Or10q3
|
UTSW |
19 |
11,848,574 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGAGCTGCCTGGTGTATATG -3'
(R):5'- TTGGCCACATTAGAGCTTGG -3'
Sequencing Primer
(F):5'- ATATGGGTATCTGTACAGGCCAG -3'
(R):5'- GGCCACATTAGAGCTTGGCTATTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation