Incidental Mutation 'IGL01113:Or1j4'
| ID |
50549 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or1j4
|
| Ensembl Gene |
ENSMUSG00000050015 |
| Gene Name |
olfactory receptor family 1 subfamily J member 4 |
| Synonyms |
MOR136-13, Olfr350, GA_x6K02T2NLDC-33544602-33545540 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.266)
|
| Stock # |
IGL01113
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
36740060-36740998 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36740631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 191
(D191V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055130]
[ENSMUST00000214457]
[ENSMUST00000215100]
|
| AlphaFold |
Q8VFP8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055130
AA Change: D191V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053105
Gene: ENSMUSG00000050015
AA Change: D191V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
6.3e-61 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
1.3e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214457
AA Change: D191V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215100
AA Change: D191V
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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544L04Rik |
A |
G |
7: 134,998,871 (GRCm39) |
|
noncoding transcript |
Het |
| Adam34l |
T |
C |
8: 44,079,189 (GRCm39) |
H345R |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,147 (GRCm39) |
F3431L |
probably benign |
Het |
| Adk |
A |
G |
14: 21,142,461 (GRCm39) |
N21S |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 29,022,688 (GRCm39) |
|
probably benign |
Het |
| Camk2d |
C |
A |
3: 126,574,061 (GRCm39) |
A156E |
probably damaging |
Het |
| Ccdc171 |
G |
T |
4: 83,580,047 (GRCm39) |
W598L |
probably damaging |
Het |
| Cep85 |
C |
T |
4: 133,876,072 (GRCm39) |
V445I |
possibly damaging |
Het |
| Cftr |
A |
G |
6: 18,270,252 (GRCm39) |
Y814C |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,156,879 (GRCm39) |
S9P |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 50,045,818 (GRCm39) |
K2409R |
probably benign |
Het |
| Dnaaf1 |
T |
A |
8: 120,309,317 (GRCm39) |
I135N |
probably damaging |
Het |
| Eif3d |
G |
A |
15: 77,847,515 (GRCm39) |
T241M |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,831,791 (GRCm39) |
|
probably benign |
Het |
| Gdpd3 |
C |
A |
7: 126,366,997 (GRCm39) |
S182R |
probably benign |
Het |
| Gm12888 |
C |
A |
4: 121,175,521 (GRCm39) |
C87F |
probably damaging |
Het |
| Gml |
C |
A |
15: 74,685,576 (GRCm39) |
M136I |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,298,548 (GRCm39) |
T137A |
probably benign |
Het |
| Igkv6-25 |
C |
T |
6: 70,192,772 (GRCm39) |
P60S |
possibly damaging |
Het |
| Mak |
A |
T |
13: 41,195,619 (GRCm39) |
W396R |
probably damaging |
Het |
| Mast4 |
C |
A |
13: 102,910,744 (GRCm39) |
C441F |
probably damaging |
Het |
| Medag |
T |
C |
5: 149,353,372 (GRCm39) |
I189T |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,093,006 (GRCm39) |
T71A |
probably benign |
Het |
| Nin |
G |
T |
12: 70,078,553 (GRCm39) |
L1678M |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,115,749 (GRCm39) |
D1081G |
probably damaging |
Het |
| Or6f1 |
A |
T |
7: 85,970,361 (GRCm39) |
D266E |
probably benign |
Het |
| Ppp1r10 |
T |
A |
17: 36,240,451 (GRCm39) |
N580K |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,987,367 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
G |
A |
1: 106,978,789 (GRCm39) |
Q57* |
probably null |
Het |
| Thumpd3 |
T |
C |
6: 113,037,021 (GRCm39) |
S307P |
probably benign |
Het |
| Upf1 |
A |
C |
8: 70,790,934 (GRCm39) |
D577E |
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,614,518 (GRCm39) |
V746A |
probably benign |
Het |
| Wscd2 |
T |
C |
5: 113,708,800 (GRCm39) |
V268A |
probably damaging |
Het |
|
| Other mutations in Or1j4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Or1j4
|
APN |
2 |
36,740,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01393:Or1j4
|
APN |
2 |
36,740,553 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02302:Or1j4
|
APN |
2 |
36,740,715 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02316:Or1j4
|
APN |
2 |
36,740,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB007:Or1j4
|
UTSW |
2 |
36,740,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB017:Or1j4
|
UTSW |
2 |
36,740,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F6893:Or1j4
|
UTSW |
2 |
36,740,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4402001:Or1j4
|
UTSW |
2 |
36,740,316 (GRCm39) |
missense |
probably benign |
|
|
R0312:Or1j4
|
UTSW |
2 |
36,740,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0525:Or1j4
|
UTSW |
2 |
36,740,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0557:Or1j4
|
UTSW |
2 |
36,740,760 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0665:Or1j4
|
UTSW |
2 |
36,740,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Or1j4
|
UTSW |
2 |
36,740,418 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2107:Or1j4
|
UTSW |
2 |
36,740,355 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2108:Or1j4
|
UTSW |
2 |
36,740,355 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2848:Or1j4
|
UTSW |
2 |
36,740,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Or1j4
|
UTSW |
2 |
36,740,729 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4822:Or1j4
|
UTSW |
2 |
36,740,888 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4907:Or1j4
|
UTSW |
2 |
36,740,270 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5134:Or1j4
|
UTSW |
2 |
36,740,488 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5144:Or1j4
|
UTSW |
2 |
36,740,156 (GRCm39) |
missense |
probably benign |
|
|
R5702:Or1j4
|
UTSW |
2 |
36,740,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5727:Or1j4
|
UTSW |
2 |
36,740,544 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5786:Or1j4
|
UTSW |
2 |
36,740,061 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R6179:Or1j4
|
UTSW |
2 |
36,740,846 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6862:Or1j4
|
UTSW |
2 |
36,740,234 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7258:Or1j4
|
UTSW |
2 |
36,740,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7307:Or1j4
|
UTSW |
2 |
36,740,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7353:Or1j4
|
UTSW |
2 |
36,740,081 (GRCm39) |
missense |
probably benign |
|
|
R7412:Or1j4
|
UTSW |
2 |
36,740,478 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7851:Or1j4
|
UTSW |
2 |
36,740,428 (GRCm39) |
nonsense |
probably null |
|
|
R7930:Or1j4
|
UTSW |
2 |
36,740,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:Or1j4
|
UTSW |
2 |
36,740,156 (GRCm39) |
missense |
probably benign |
|
|
R8346:Or1j4
|
UTSW |
2 |
36,740,351 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8692:Or1j4
|
UTSW |
2 |
36,740,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9120:Or1j4
|
UTSW |
2 |
36,740,143 (GRCm39) |
nonsense |
probably null |
|
|
R9318:Or1j4
|
UTSW |
2 |
36,740,565 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Or1j4
|
UTSW |
2 |
36,740,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or1j4
|
UTSW |
2 |
36,740,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-21 |
Incidental Mutation