Incidental Mutation 'R2396:Or5m13b'
| ID |
248510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5m13b
|
| Ensembl Gene |
ENSMUSG00000042863 |
| Gene Name |
olfactory receptor family 5 subfamily M member 13B |
| Synonyms |
Olfr1026, MOR196-4, GA_x6K02T2Q125-47402610-47403533 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R2396 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
85753614-85754537 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85754269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 219
(I219T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056718]
[ENSMUST00000213474]
[ENSMUST00000217615]
[ENSMUST00000219615]
|
| AlphaFold |
Q7TR90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056718
AA Change: I219T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000049887
Gene: ENSMUSG00000042863
AA Change: I219T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
6.1e-58 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
9e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217615
AA Change: I219T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219615
AA Change: I219T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,261,356 (GRCm39) |
W1189* |
probably null |
Het |
| Col4a4 |
C |
G |
1: 82,484,793 (GRCm39) |
M491I |
unknown |
Het |
| Col5a1 |
C |
A |
2: 27,876,741 (GRCm39) |
D813E |
unknown |
Het |
| Cyp4b1 |
T |
C |
4: 115,498,843 (GRCm39) |
Y113C |
probably benign |
Het |
| Dmac1 |
A |
G |
4: 75,196,458 (GRCm39) |
F11L |
unknown |
Het |
| Dnah9 |
G |
T |
11: 65,975,984 (GRCm39) |
T1355K |
probably benign |
Het |
| Efemp1 |
G |
A |
11: 28,817,941 (GRCm39) |
R140Q |
possibly damaging |
Het |
| Elapor2 |
T |
C |
5: 9,485,395 (GRCm39) |
L519P |
possibly damaging |
Het |
| Fndc3a |
T |
C |
14: 72,921,123 (GRCm39) |
D17G |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,761,241 (GRCm39) |
A328T |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,590,725 (GRCm39) |
A101E |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,835,715 (GRCm39) |
N382S |
probably benign |
Het |
| Or10am5 |
C |
A |
7: 6,517,784 (GRCm39) |
V215F |
probably damaging |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Pigb |
T |
A |
9: 72,922,553 (GRCm39) |
R11* |
probably null |
Het |
| Prl8a1 |
C |
A |
13: 27,758,007 (GRCm39) |
R234L |
probably benign |
Het |
| Spred3 |
T |
C |
7: 28,866,059 (GRCm39) |
H80R |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,408,506 (GRCm39) |
I207T |
probably benign |
Het |
| Tll1 |
C |
A |
8: 64,523,324 (GRCm39) |
G463* |
probably null |
Het |
| Tm4sf4 |
T |
G |
3: 57,345,181 (GRCm39) |
C196G |
unknown |
Het |
| Tmem87a |
A |
T |
2: 120,234,540 (GRCm39) |
M1K |
probably null |
Het |
| Tmem92 |
A |
G |
11: 94,673,233 (GRCm39) |
L10P |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,071,978 (GRCm39) |
E215V |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,766,471 (GRCm39) |
D849E |
probably benign |
Het |
|
| Other mutations in Or5m13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01701:Or5m13b
|
APN |
2 |
85,754,421 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
PIT4151001:Or5m13b
|
UTSW |
2 |
85,754,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Or5m13b
|
UTSW |
2 |
85,754,362 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0601:Or5m13b
|
UTSW |
2 |
85,753,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0899:Or5m13b
|
UTSW |
2 |
85,753,731 (GRCm39) |
missense |
probably benign |
|
|
R1728:Or5m13b
|
UTSW |
2 |
85,754,466 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2004:Or5m13b
|
UTSW |
2 |
85,753,939 (GRCm39) |
splice site |
probably null |
|
|
R2020:Or5m13b
|
UTSW |
2 |
85,754,087 (GRCm39) |
missense |
probably benign |
|
|
R2519:Or5m13b
|
UTSW |
2 |
85,753,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Or5m13b
|
UTSW |
2 |
85,754,074 (GRCm39) |
missense |
probably benign |
|
|
R4696:Or5m13b
|
UTSW |
2 |
85,749,215 (GRCm39) |
splice site |
probably null |
|
|
R5034:Or5m13b
|
UTSW |
2 |
85,753,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5221:Or5m13b
|
UTSW |
2 |
85,754,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5334:Or5m13b
|
UTSW |
2 |
85,754,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Or5m13b
|
UTSW |
2 |
85,753,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7602:Or5m13b
|
UTSW |
2 |
85,754,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8075:Or5m13b
|
UTSW |
2 |
85,754,470 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8697:Or5m13b
|
UTSW |
2 |
85,754,200 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8971:Or5m13b
|
UTSW |
2 |
85,754,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Or5m13b
|
UTSW |
2 |
85,754,267 (GRCm39) |
nonsense |
probably null |
|
|
R9347:Or5m13b
|
UTSW |
2 |
85,753,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or5m13b
|
UTSW |
2 |
85,754,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGCCACACAGTACATTTACG -3'
(R):5'- AAAAGACAGCCACAATTTTCCCTTG -3'
Sequencing Primer
(F):5'- CACACAGTACATTTACGGCTTTG -3'
(R):5'- CCTTGTTCTACAGATGTCTCAGAGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation