Incidental Mutation 'R4240:Or13a25'
| ID |
320169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13a25
|
| Ensembl Gene |
ENSMUSG00000059136 |
| Gene Name |
olfactory receptor family 13 subfamily A member 25 |
| Synonyms |
GA_x6K02T2PBJ9-42813436-42814368, Olfr539, MOR253-4 |
| MMRRC Submission |
041057-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4240 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140247202-140248161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140247496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 99
(N99D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078967]
[ENSMUST00000210973]
[ENSMUST00000218865]
|
| AlphaFold |
Q8VGL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078967
AA Change: N99D
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000077990
Gene: ENSMUSG00000059136
AA Change: N99D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
40 |
316 |
6.5e-50 |
PFAM |
|
Pfam:7tm_1
|
50 |
299 |
4.9e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210973
AA Change: N92D
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218865
AA Change: N92D
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219579
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219853
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
93% (50/54) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
| 4930488N24Rik |
A |
T |
17: 14,326,049 (GRCm39) |
|
noncoding transcript |
Het |
| Areg |
A |
T |
5: 91,291,375 (GRCm39) |
N106I |
probably damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,893,949 (GRCm39) |
E487K |
possibly damaging |
Het |
| Cfap46 |
G |
T |
7: 139,246,203 (GRCm39) |
Q387K |
possibly damaging |
Het |
| Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
| Cnot6l |
T |
C |
5: 96,225,221 (GRCm39) |
T491A |
probably benign |
Het |
| Cog7 |
C |
T |
7: 121,524,707 (GRCm39) |
V696M |
possibly damaging |
Het |
| Col22a1 |
C |
T |
15: 71,878,980 (GRCm39) |
G59D |
probably damaging |
Het |
| Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
| Eno1b |
T |
A |
18: 48,180,907 (GRCm39) |
S362T |
probably benign |
Het |
| Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
| Fam170a |
A |
T |
18: 50,414,734 (GRCm39) |
M127L |
possibly damaging |
Het |
| Gm1979 |
T |
C |
5: 26,206,119 (GRCm39) |
T154A |
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 106,001,513 (GRCm39) |
T378A |
possibly damaging |
Het |
| Irf2bpl |
C |
A |
12: 86,929,691 (GRCm39) |
Q327H |
possibly damaging |
Het |
| Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,742,452 (GRCm39) |
|
probably benign |
Het |
| Kplce |
T |
C |
3: 92,775,898 (GRCm39) |
I262V |
possibly damaging |
Het |
| Lad1 |
T |
A |
1: 135,755,033 (GRCm39) |
V103D |
possibly damaging |
Het |
| Mcm4 |
A |
T |
16: 15,445,570 (GRCm39) |
Y692* |
probably null |
Het |
| Med15 |
C |
T |
16: 17,473,358 (GRCm39) |
R497H |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,014,163 (GRCm39) |
V177A |
possibly damaging |
Het |
| Mr1 |
T |
C |
1: 155,012,413 (GRCm39) |
E167G |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,951,053 (GRCm39) |
|
probably null |
Het |
| Myom2 |
A |
G |
8: 15,182,895 (GRCm39) |
D1444G |
probably benign |
Het |
| Nes |
C |
A |
3: 87,886,666 (GRCm39) |
P1598T |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,115,243 (GRCm39) |
H479Q |
noncoding transcript |
Het |
| Nphp4 |
A |
G |
4: 152,640,141 (GRCm39) |
D1009G |
probably benign |
Het |
| Pate10 |
T |
A |
9: 35,653,449 (GRCm39) |
Y84* |
probably null |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,721,671 (GRCm39) |
I202V |
probably benign |
Het |
| Rsf1 |
C |
CGGCGGCGGT |
7: 97,229,142 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,895,983 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,950 (GRCm39) |
K290E |
probably damaging |
Het |
| Tbc1d17 |
T |
C |
7: 44,496,250 (GRCm39) |
Y84C |
probably damaging |
Het |
| Usp46 |
T |
G |
5: 74,192,928 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
T |
G |
5: 109,364,277 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
A |
T |
5: 108,945,369 (GRCm39) |
V746D |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,202,790 (GRCm39) |
V1120A |
possibly damaging |
Het |
| Zbtb38 |
CTCTTCTTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTCTTCTTC |
9: 96,568,155 (GRCm39) |
|
probably benign |
Het |
| Zfp791 |
T |
C |
8: 85,836,295 (GRCm39) |
H523R |
probably null |
Het |
| Zfp870 |
A |
G |
17: 33,104,710 (GRCm39) |
I53T |
probably benign |
Het |
|
| Other mutations in Or13a25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Or13a25
|
APN |
7 |
140,247,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01610:Or13a25
|
APN |
7 |
140,247,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Or13a25
|
APN |
7 |
140,247,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03406:Or13a25
|
APN |
7 |
140,247,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Or13a25
|
UTSW |
7 |
140,247,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Or13a25
|
UTSW |
7 |
140,248,048 (GRCm39) |
missense |
probably benign |
|
|
R1934:Or13a25
|
UTSW |
7 |
140,247,951 (GRCm39) |
nonsense |
probably null |
|
|
R1985:Or13a25
|
UTSW |
7 |
140,247,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2962:Or13a25
|
UTSW |
7 |
140,247,862 (GRCm39) |
missense |
probably benign |
|
|
R4239:Or13a25
|
UTSW |
7 |
140,247,496 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4360:Or13a25
|
UTSW |
7 |
140,247,730 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4841:Or13a25
|
UTSW |
7 |
140,247,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Or13a25
|
UTSW |
7 |
140,247,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Or13a25
|
UTSW |
7 |
140,247,226 (GRCm39) |
missense |
probably benign |
|
|
R5325:Or13a25
|
UTSW |
7 |
140,247,705 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5766:Or13a25
|
UTSW |
7 |
140,247,266 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6363:Or13a25
|
UTSW |
7 |
140,247,995 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6836:Or13a25
|
UTSW |
7 |
140,248,093 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7777:Or13a25
|
UTSW |
7 |
140,247,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7920:Or13a25
|
UTSW |
7 |
140,247,814 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8134:Or13a25
|
UTSW |
7 |
140,247,680 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8712:Or13a25
|
UTSW |
7 |
140,248,052 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9095:Or13a25
|
UTSW |
7 |
140,247,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9158:Or13a25
|
UTSW |
7 |
140,247,547 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9603:Or13a25
|
UTSW |
7 |
140,247,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTGTTCCTGACAGGCTG -3'
(R):5'- ACATGCATTCACAAGACCGATG -3'
Sequencing Primer
(F):5'- GACAGGCTGCTTCTTGTCC -3'
(R):5'- GCATTCACAAGACCGATGAACCATAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation