Incidental Mutation 'R2441:Or13p10'
| ID |
249778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13p10
|
| Ensembl Gene |
ENSMUSG00000043698 |
| Gene Name |
olfactory receptor family 13 subfamily P member 10 |
| Synonyms |
MOR258-5, Olfr62, IH12, GA_x6K02T2QD9B-18877756-18876809 |
| MMRRC Submission |
040399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R2441 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118522716-118523663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118523332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 206
(G206D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102666]
[ENSMUST00000213189]
[ENSMUST00000217013]
|
| AlphaFold |
L7MU75 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102666
AA Change: G206D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099727
Gene: ENSMUSG00000043698
AA Change: G206D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
2.9e-53 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
308 |
1e-8 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
2.2e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213189
AA Change: G206D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217013
AA Change: G206D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,449 (GRCm39) |
N172S |
possibly damaging |
Het |
| AY358078 |
A |
G |
14: 52,037,546 (GRCm39) |
H15R |
probably benign |
Het |
| Boc |
A |
G |
16: 44,308,986 (GRCm39) |
V842A |
probably damaging |
Het |
| Chuk |
T |
A |
19: 44,085,360 (GRCm39) |
N262I |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,526,232 (GRCm39) |
L590Q |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,815,685 (GRCm39) |
H3806L |
possibly damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,952,761 (GRCm39) |
D224G |
probably damaging |
Het |
| Hgf |
A |
T |
5: 16,809,788 (GRCm39) |
H426L |
probably damaging |
Het |
| Nrxn2 |
G |
T |
19: 6,478,331 (GRCm39) |
G85W |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 77,952,410 (GRCm39) |
N602K |
probably damaging |
Het |
| Or5p51 |
T |
C |
7: 107,444,185 (GRCm39) |
T252A |
probably benign |
Het |
| P3h4 |
G |
A |
11: 100,304,594 (GRCm39) |
R216W |
probably damaging |
Het |
| Pced1b |
T |
A |
15: 97,282,166 (GRCm39) |
D68E |
possibly damaging |
Het |
| Pzp |
A |
T |
6: 128,466,731 (GRCm39) |
L1161* |
probably null |
Het |
| Rprd1a |
A |
T |
18: 24,640,257 (GRCm39) |
L173* |
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,103,509 (GRCm39) |
I127V |
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,631,210 (GRCm39) |
|
probably benign |
Het |
| Tbx15 |
T |
G |
3: 99,259,827 (GRCm39) |
M566R |
probably damaging |
Het |
| Tesmin |
G |
A |
19: 3,452,577 (GRCm39) |
|
probably null |
Het |
| Tmem132a |
A |
G |
19: 10,837,501 (GRCm39) |
V603A |
probably damaging |
Het |
| Tob2 |
G |
T |
15: 81,735,923 (GRCm39) |
Y15* |
probably null |
Het |
| Trim23 |
A |
T |
13: 104,328,583 (GRCm39) |
Q307L |
probably damaging |
Het |
| Trpc4 |
A |
T |
3: 54,129,704 (GRCm39) |
I157L |
probably damaging |
Het |
| Tsen34 |
A |
T |
7: 3,697,994 (GRCm39) |
K87N |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 37,989,589 (GRCm39) |
S2076P |
probably damaging |
Het |
| Vmn2r59 |
C |
T |
7: 41,695,570 (GRCm39) |
V281I |
probably benign |
Het |
| Vwa3b |
T |
C |
1: 37,182,150 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
C |
T |
6: 125,013,612 (GRCm39) |
P544L |
probably benign |
Het |
|
| Other mutations in Or13p10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Or13p10
|
APN |
4 |
118,523,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02203:Or13p10
|
APN |
4 |
118,523,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02259:Or13p10
|
APN |
4 |
118,523,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02523:Or13p10
|
APN |
4 |
118,523,238 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03324:Or13p10
|
APN |
4 |
118,523,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1215:Or13p10
|
UTSW |
4 |
118,523,496 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1656:Or13p10
|
UTSW |
4 |
118,523,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2085:Or13p10
|
UTSW |
4 |
118,523,301 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6277:Or13p10
|
UTSW |
4 |
118,523,520 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6306:Or13p10
|
UTSW |
4 |
118,523,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6418:Or13p10
|
UTSW |
4 |
118,522,808 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6700:Or13p10
|
UTSW |
4 |
118,523,609 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7410:Or13p10
|
UTSW |
4 |
118,523,629 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7723:Or13p10
|
UTSW |
4 |
118,522,914 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7991:Or13p10
|
UTSW |
4 |
118,523,489 (GRCm39) |
nonsense |
probably null |
|
|
R8222:Or13p10
|
UTSW |
4 |
118,523,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Or13p10
|
UTSW |
4 |
118,523,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Or13p10
|
UTSW |
4 |
118,523,502 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Or13p10
|
UTSW |
4 |
118,523,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACTGGTAGCCTTCTGTG -3'
(R):5'- AGAGCCAACTTCTTGTCCTC -3'
Sequencing Primer
(F):5'- CACTGGTAGCCTTCTGTGGGTTC -3'
(R):5'- CTCTTCTGGGGAGGACTCAGAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation