Incidental Mutation 'IGL03374:Or9g4b'
ID |
420411 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or9g4b
|
Ensembl Gene |
ENSMUSG00000033850 |
Gene Name |
olfactory receptor family 9 subfamily G member 4B |
Synonyms |
GA_x6K02T2Q125-47264151-47265089, Olfr1015, MOR213-3 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.262)
|
Stock # |
IGL03374
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
85615818-85616833 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85616053 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 66
(L66P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047870]
[ENSMUST00000215945]
|
AlphaFold |
Q7TR94 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047870
AA Change: L66P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046301 Gene: ENSMUSG00000033850 AA Change: L66P
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
308 |
4.5e-49 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
4.2e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214726
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215945
AA Change: L66P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox3 |
G |
A |
1: 58,211,007 (GRCm39) |
R917Q |
probably damaging |
Het |
Atl1 |
T |
C |
12: 70,002,141 (GRCm39) |
Y367H |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,511,062 (GRCm39) |
E175G |
possibly damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,561,821 (GRCm39) |
D800E |
probably damaging |
Het |
Cdon |
T |
A |
9: 35,389,299 (GRCm39) |
F801L |
possibly damaging |
Het |
Dcaf13 |
C |
T |
15: 39,008,543 (GRCm39) |
Q382* |
probably null |
Het |
Dpy19l3 |
T |
C |
7: 35,411,633 (GRCm39) |
N367S |
possibly damaging |
Het |
F11 |
A |
G |
8: 45,714,111 (GRCm39) |
S3P |
possibly damaging |
Het |
Fhip1b |
T |
C |
7: 105,033,158 (GRCm39) |
E57G |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,267,624 (GRCm39) |
|
probably benign |
Het |
Gcnt3 |
A |
T |
9: 69,941,695 (GRCm39) |
M291K |
possibly damaging |
Het |
Glg1 |
T |
C |
8: 111,889,412 (GRCm39) |
D927G |
probably damaging |
Het |
Gm5862 |
C |
A |
5: 26,224,510 (GRCm39) |
R153L |
probably damaging |
Het |
Gucy2c |
T |
C |
6: 136,742,628 (GRCm39) |
T237A |
probably benign |
Het |
Helz |
A |
T |
11: 107,510,973 (GRCm39) |
I610F |
probably damaging |
Het |
Hpd |
T |
C |
5: 123,310,108 (GRCm39) |
E372G |
probably damaging |
Het |
Hsd17b13 |
A |
G |
5: 104,124,964 (GRCm39) |
|
probably benign |
Het |
Klhl32 |
G |
A |
4: 24,649,533 (GRCm39) |
|
probably benign |
Het |
Krt74 |
T |
A |
15: 101,668,937 (GRCm39) |
|
noncoding transcript |
Het |
Nopchap1 |
G |
A |
10: 83,201,571 (GRCm39) |
V115M |
probably damaging |
Het |
Or14a258 |
T |
A |
7: 86,035,574 (GRCm39) |
Q98L |
probably damaging |
Het |
Phyhipl |
A |
G |
10: 70,401,109 (GRCm39) |
V163A |
possibly damaging |
Het |
Pknox2 |
T |
A |
9: 36,834,966 (GRCm39) |
T168S |
probably damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,269,046 (GRCm39) |
|
probably benign |
Het |
Sgce |
G |
A |
6: 4,689,718 (GRCm39) |
R372* |
probably null |
Het |
Stard5 |
T |
C |
7: 83,285,980 (GRCm39) |
S102P |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,121,360 (GRCm39) |
K5941R |
possibly damaging |
Het |
Tas2r124 |
A |
T |
6: 132,732,081 (GRCm39) |
H130L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,546,027 (GRCm39) |
E32462G |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,415,974 (GRCm39) |
S1647P |
probably damaging |
Het |
Ube2d3 |
A |
G |
3: 135,165,844 (GRCm39) |
|
probably null |
Het |
Vps13d |
G |
T |
4: 144,835,145 (GRCm39) |
H1561Q |
possibly damaging |
Het |
|
Other mutations in Or9g4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00902:Or9g4b
|
APN |
2 |
85,616,461 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01716:Or9g4b
|
APN |
2 |
85,616,487 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03196:Or9g4b
|
APN |
2 |
85,616,365 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0329:Or9g4b
|
UTSW |
2 |
85,616,147 (GRCm39) |
nonsense |
probably null |
|
R0330:Or9g4b
|
UTSW |
2 |
85,616,147 (GRCm39) |
nonsense |
probably null |
|
R0714:Or9g4b
|
UTSW |
2 |
85,616,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R0965:Or9g4b
|
UTSW |
2 |
85,616,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R1078:Or9g4b
|
UTSW |
2 |
85,616,437 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3826:Or9g4b
|
UTSW |
2 |
85,616,559 (GRCm39) |
nonsense |
probably null |
|
R5031:Or9g4b
|
UTSW |
2 |
85,616,062 (GRCm39) |
nonsense |
probably null |
|
R5239:Or9g4b
|
UTSW |
2 |
85,616,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R6120:Or9g4b
|
UTSW |
2 |
85,616,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R6177:Or9g4b
|
UTSW |
2 |
85,616,004 (GRCm39) |
missense |
probably damaging |
0.99 |
R6726:Or9g4b
|
UTSW |
2 |
85,615,906 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6954:Or9g4b
|
UTSW |
2 |
85,616,726 (GRCm39) |
nonsense |
probably null |
|
R7766:Or9g4b
|
UTSW |
2 |
85,616,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R8193:Or9g4b
|
UTSW |
2 |
85,616,305 (GRCm39) |
missense |
probably benign |
0.34 |
R8245:Or9g4b
|
UTSW |
2 |
85,616,119 (GRCm39) |
missense |
probably benign |
0.02 |
R8339:Or9g4b
|
UTSW |
2 |
85,615,876 (GRCm39) |
missense |
probably damaging |
0.98 |
R9272:Or9g4b
|
UTSW |
2 |
85,616,088 (GRCm39) |
missense |
probably benign |
0.09 |
Z1176:Or9g4b
|
UTSW |
2 |
85,616,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |