Incidental Mutation 'R5147:Or5al7'
| ID |
395139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5al7
|
| Ensembl Gene |
ENSMUSG00000075201 |
| Gene Name |
olfactory receptor family 5 subfamily AL member 7 |
| Synonyms |
MOR185-7, GA_x6K02T2Q125-47631900-47630956, Olfr1043 |
| MMRRC Submission |
042731-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5147 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
85992347-85993291 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85992378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 305
(I305K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099907]
[ENSMUST00000099908]
[ENSMUST00000213886]
[ENSMUST00000213949]
[ENSMUST00000215624]
[ENSMUST00000216028]
|
| AlphaFold |
Q8VFK4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099907
AA Change: I305K
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201
AA Change: I305K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
6.9e-46 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099908
|
| SMART Domains |
Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.2e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.3e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213886
AA Change: I305K
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213949
AA Change: I305K
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215624
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216028
AA Change: I305K
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,851,149 (GRCm39) |
Y2121H |
probably benign |
Het |
| Adgrf2 |
A |
G |
17: 43,021,574 (GRCm39) |
Y417H |
probably damaging |
Het |
| Ap5z1 |
A |
C |
5: 142,452,265 (GRCm39) |
D66A |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,821,688 (GRCm39) |
Y422N |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,773,700 (GRCm39) |
G114D |
probably benign |
Het |
| Cgref1 |
C |
T |
5: 31,091,049 (GRCm39) |
G255E |
probably benign |
Het |
| Cyp2a22 |
A |
C |
7: 26,635,750 (GRCm39) |
L271R |
probably damaging |
Het |
| Dcp2 |
G |
T |
18: 44,550,662 (GRCm39) |
E379* |
probably null |
Het |
| Fhl3 |
T |
A |
4: 124,601,724 (GRCm39) |
D277E |
probably benign |
Het |
| Gm19684 |
C |
T |
17: 36,439,411 (GRCm39) |
V190M |
probably damaging |
Het |
| Hpse |
T |
C |
5: 100,867,375 (GRCm39) |
D29G |
probably benign |
Het |
| Il31 |
T |
C |
5: 123,620,121 (GRCm39) |
|
probably benign |
Het |
| Ilk |
T |
C |
7: 105,391,774 (GRCm39) |
C422R |
possibly damaging |
Het |
| Itga1 |
T |
G |
13: 115,121,678 (GRCm39) |
D777A |
possibly damaging |
Het |
| Kank3 |
A |
G |
17: 34,041,176 (GRCm39) |
D556G |
probably damaging |
Het |
| Lrit3 |
A |
G |
3: 129,597,574 (GRCm39) |
S36P |
possibly damaging |
Het |
| Magi1 |
C |
T |
6: 93,724,248 (GRCm39) |
E256K |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Mymk |
C |
T |
2: 26,952,299 (GRCm39) |
M148I |
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,290,003 (GRCm39) |
I170F |
possibly damaging |
Het |
| Odad3 |
T |
C |
9: 21,906,158 (GRCm39) |
E260G |
probably benign |
Het |
| Or5an11 |
T |
A |
19: 12,246,268 (GRCm39) |
S225T |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,799,003 (GRCm39) |
T1803I |
possibly damaging |
Het |
| Ppp2r2b |
C |
T |
18: 42,778,942 (GRCm39) |
V398I |
probably benign |
Het |
| Ppp2r5e |
T |
A |
12: 75,516,544 (GRCm39) |
R214S |
probably damaging |
Het |
| Prss16 |
T |
C |
13: 22,190,264 (GRCm39) |
D298G |
possibly damaging |
Het |
| Qprt |
G |
A |
7: 126,707,622 (GRCm39) |
R189W |
probably damaging |
Het |
| Rara |
C |
T |
11: 98,841,550 (GRCm39) |
S36F |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,264 (GRCm39) |
V465A |
probably damaging |
Het |
| Slc22a1 |
C |
T |
17: 12,869,838 (GRCm39) |
G508R |
probably damaging |
Het |
| Slco2a1 |
C |
A |
9: 102,927,468 (GRCm39) |
F120L |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,062,340 (GRCm39) |
L864* |
probably null |
Het |
| Tssk4 |
A |
G |
14: 55,888,430 (GRCm39) |
I100V |
possibly damaging |
Het |
| Vgll4 |
A |
G |
6: 114,867,576 (GRCm39) |
|
probably null |
Het |
| Vmn1r65 |
T |
G |
7: 6,011,818 (GRCm39) |
I139L |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,456,824 (GRCm39) |
P757S |
probably benign |
Het |
| Ythdc2 |
G |
A |
18: 44,977,359 (GRCm39) |
G385E |
probably damaging |
Het |
|
| Other mutations in Or5al7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00925:Or5al7
|
APN |
2 |
85,993,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02037:Or5al7
|
APN |
2 |
85,993,181 (GRCm39) |
missense |
probably benign |
|
|
IGL02174:Or5al7
|
APN |
2 |
85,992,442 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02511:Or5al7
|
APN |
2 |
85,992,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02578:Or5al7
|
APN |
2 |
85,993,073 (GRCm39) |
nonsense |
probably null |
|
|
IGL03084:Or5al7
|
APN |
2 |
85,992,569 (GRCm39) |
nonsense |
probably null |
|
|
R0278:Or5al7
|
UTSW |
2 |
85,992,923 (GRCm39) |
nonsense |
probably null |
|
|
R0633:Or5al7
|
UTSW |
2 |
85,992,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0972:Or5al7
|
UTSW |
2 |
85,992,648 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1033:Or5al7
|
UTSW |
2 |
85,993,194 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2116:Or5al7
|
UTSW |
2 |
85,993,073 (GRCm39) |
nonsense |
probably null |
|
|
R2998:Or5al7
|
UTSW |
2 |
85,992,364 (GRCm39) |
missense |
probably benign |
|
|
R3951:Or5al7
|
UTSW |
2 |
85,992,962 (GRCm39) |
nonsense |
probably null |
|
|
R6193:Or5al7
|
UTSW |
2 |
85,992,628 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7020:Or5al7
|
UTSW |
2 |
85,992,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7954:Or5al7
|
UTSW |
2 |
85,993,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8203:Or5al7
|
UTSW |
2 |
85,992,844 (GRCm39) |
missense |
probably benign |
|
|
R8390:Or5al7
|
UTSW |
2 |
85,993,266 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1177:Or5al7
|
UTSW |
2 |
85,992,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACTCAAGGACTTTGTTTCTAC -3'
(R):5'- AAAGTCTTCTCCACCTGTGC -3'
Sequencing Primer
(F):5'- TCAAGGACTTTGTTTCTACTTATCAC -3'
(R):5'- AAAGTCTTCTCCACCTGTGCTTCTC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation